#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
AAK1	22848	genome.wustl.edu	37	2	69704074	69704074	+	Missense_Mutation	SNP	G	G	A	rs367891079		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:69704074G>A	ENST00000409085.4	-	21	3105	c.2729C>T	c.(2728-2730)tCg>tTg	p.S910L	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	910					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CACCTTGTCCGAGCCCTCAGG	0.438																																						dbGAP											0													101.0	97.0	98.0					2																	69704074		1882	4102	5984	-	-	-	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2729C>T	2.37:g.69704074G>A	ENSP00000386456:p.Ser910Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ3|Q53RX6|Q9UPV4	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	p.S910L	ENST00000409085.4	37	c.2729	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943731	0.73672	.	.	ENSG00000115977	ENST00000409085	T	0.28069	1.63	5.71	4.84	0.62591	.	.	.	.	.	T	0.20251	0.0487	N	0.14661	0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.02736	-1.1117	9	0.44086	T	0.13	.	13.7765	0.63057	0.0734:0.0:0.9266:0.0	.	910	Q2M2I8	AAK1_HUMAN	L	910	ENSP00000386456:S910L	ENSP00000386456:S910L	S	-	2	0	AAK1	69557578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.895000	0.63214	1.421000	0.47157	0.655000	0.94253	TCG	AAK1	-	NULL	ENSG00000115977		0.438	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	383	0.26	1	G	NM_014911		69704074	69704074	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	missense	291	40.85	201	SNP	1.000	A
AASDH	132949	genome.wustl.edu	37	4	57217581	57217581	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:57217581T>C	ENST00000205214.6	-	10	1799	c.1619A>G	c.(1618-1620)tAc>tGc	p.Y540C	AASDH_ENST00000451613.1_Missense_Mutation_p.Y540C|AASDH_ENST00000602986.1_Missense_Mutation_p.Y387C|AASDH_ENST00000513376.1_Missense_Mutation_p.Y440C|AASDH_ENST00000502617.1_Missense_Mutation_p.Y540C|AASDH_ENST00000434343.2_Missense_Mutation_p.Y55C	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	540					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAAGTTTATGTAGTTTAAATA	0.259																																						dbGAP											0													46.0	51.0	49.0					4																	57217581		2198	4263	6461	-	-	-	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1619A>G	4.37:g.57217581T>C	ENSP00000205214:p.Tyr540Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.Y540C	ENST00000205214.6	37	c.1619	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550726	0.65311	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.49720	0.77;0.77;2.84;2.84;0.77	5.19	4.0	0.46444	.	0.377731	0.31145	N	0.008171	T	0.54175	0.1842	L	0.46157	1.445	0.29540	N	0.852125	D;D;D;D	0.69078	0.997;0.988;0.978;0.979	P;P;P;P	0.56514	0.773;0.725;0.8;0.533	T	0.55749	-0.8092	10	0.56958	D	0.05	-3.5787	12.5616	0.56283	0.0:0.0:0.1391:0.8609	.	387;540;540;540	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	C	540;440;55;540;387;540	ENSP00000205214:Y540C;ENSP00000423760:Y440C;ENSP00000392158:Y55C;ENSP00000409656:Y540C;ENSP00000421171:Y540C	ENSP00000205214:Y540C	Y	-	2	0	AASDH	56912338	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	2.113000	0.41902	0.902000	0.36520	0.533000	0.62120	TAC	AASDH	-	NULL	ENSG00000157426		0.259	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	74	0.00	0	T	NM_181806		57217581	57217581	-1	no_errors	ENST00000205214	ensembl	human	known	69_37n	missense	80	32.77	39	SNP	0.982	C
ABCA1	19	genome.wustl.edu	37	9	107580945	107580945	+	Splice_Site	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:107580945delT	ENST00000374736.3	-	23	3855	c.3461delA	c.(3460-3462)aag>ag	p.K1154fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1154					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCAGCTCACCTTTTTCAGGTA	0.522																																						dbGAP											0													113.0	100.0	105.0					9																	107580945		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3462+1A>-	9.37:g.107580945delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K1154fs	ENST00000374736.3	37	c.3461	CCDS6762.1	9																																																																																			ABCA1	-	NULL	ENSG00000165029		0.522	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	169	0.00	0	T	NM_005502	Frame_Shift_Del	107580945	107580945	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	frame_shift_del	135	33.01	69	DEL	1.000	-
ABCA13	154664	genome.wustl.edu	37	7	48313381	48313381	+	Missense_Mutation	SNP	G	G	A	rs201391209	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:48313381G>A	ENST00000435803.1	+	17	4142	c.4118G>A	c.(4117-4119)cGt>cAt	p.R1373H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1373					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGATGTTACGTATTCTAGAC	0.338																																						dbGAP											0													53.0	49.0	50.0					7																	48313381		1856	4083	5939	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4118G>A	7.37:g.48313381G>A	ENSP00000411096:p.Arg1373His	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1373H	ENST00000435803.1	37	c.4118	CCDS47584.1	7	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.008	-1.923313	0.00498	.	.	ENSG00000179869	ENST00000435803	D	0.86366	-2.11	4.85	-7.04	0.01578	.	1.056680	0.07491	N	0.905531	T	0.67562	0.2906	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.56655	-0.7943	9	.	.	.	.	14.5908	0.68362	0.2734:0.0:0.7266:0.0	.	1373	Q86UQ4	ABCAD_HUMAN	H	1373	ENSP00000411096:R1373H	.	R	+	2	0	ABCA13	48283927	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.607000	0.05648	-1.084000	0.03092	-0.253000	0.11424	CGT	ABCA13	-	NULL	ENSG00000179869		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	136	0.73	1	G	NM_152701		48313381	48313381	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	61	42.45	45	SNP	0.000	A
ABCA13	154664	genome.wustl.edu	37	7	48626866	48626866	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:48626866A>G	ENST00000435803.1	+	57	14646	c.14622A>G	c.(14620-14622)aaA>aaG	p.K4874K	ABCA13_ENST00000544596.1_Silent_p.K604K	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4874	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGTGGGGAAACCTGACATTC	0.463																																						dbGAP											0													31.0	33.0	33.0					7																	48626866		1912	4155	6067	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14622A>G	7.37:g.48626866A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1140A	ENST00000435803.1	37	c.3418	CCDS47584.1	7																																																																																			ABCA13	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	84	0.00	0	A	NM_152701		48626866	48626866	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453246	ensembl	human	known	69_37n	missense	55	42.11	40	SNP	0.366	G
ABCA9	10350	genome.wustl.edu	37	17	67047217	67047217	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:67047217G>A	ENST00000340001.4	-	2	262	c.51C>T	c.(49-51)tgC>tgT	p.C17C	ABCA9_ENST00000370732.2_Silent_p.C17C|ABCA9_ENST00000495634.1_Silent_p.C17C|ABCA9_ENST00000453985.2_Silent_p.C17C	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	17					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GACAGTTCTTGCAGAGAAGAG	0.373																																						dbGAP											0													136.0	126.0	129.0					17																	67047217		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.51C>T	17.37:g.67047217G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C17	ENST00000340001.4	37	c.51	CCDS11681.1	17																																																																																			ABCA9	-	NULL	ENSG00000154258		0.373	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	358	0.28	1	G	NM_172386		67047217	67047217	-1	no_errors	ENST00000340001	ensembl	human	known	69_37n	silent	652	18.30	146	SNP	0.522	A
ABCA5	23461	genome.wustl.edu	37	17	67309421	67309421	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:67309421A>G	ENST00000392676.3	-	3	183	c.119T>C	c.(118-120)cTa>cCa	p.L40P	ABCA5_ENST00000588877.1_Missense_Mutation_p.L40P|ABCA5_ENST00000392677.2_Missense_Mutation_p.L40P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	40					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TAAAAAAAATAGTGGAAAAAG	0.259																																						dbGAP											0													19.0	21.0	20.0					17																	67309421		2148	4252	6400	-	-	-	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.119T>C	17.37:g.67309421A>G	ENSP00000376443:p.Leu40Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L40P	ENST00000392676.3	37	c.119	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368669	0.61624	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.89415	-2.51;-2.51	5.11	5.11	0.69529	.	0.000000	0.48767	D	0.000166	D	0.93413	0.7899	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	D	0.93285	0.6663	9	.	.	.	.	9.1852	0.37165	0.9169:0.0:0.0831:0.0	.	40;40	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	P	40	ENSP00000376444:L40P;ENSP00000376443:L40P	.	L	-	2	0	ABCA5	64821016	0.998000	0.40836	0.987000	0.45799	0.994000	0.84299	5.218000	0.65257	1.921000	0.55644	0.477000	0.44152	CTA	ABCA5	-	NULL	ENSG00000154265		0.259	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	66	0.00	0	A	NM_018672		67309421	67309421	-1	no_errors	ENST00000392677	ensembl	human	known	69_37n	missense	185	13.55	29	SNP	0.972	G
ABCB4	5244	genome.wustl.edu	37	7	87051504	87051504	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:87051504T>C	ENST00000265723.4	-	18	2360	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	ABCB4_ENST00000545634.1_Missense_Mutation_p.K750R|ABCB4_ENST00000453593.1_Missense_Mutation_p.K750R|ABCB4_ENST00000359206.3_Missense_Mutation_p.K750R|ABCB4_ENST00000358400.3_Missense_Mutation_p.K750R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	750	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TATGTTGCACTTCTGCTGCTT	0.363																																						dbGAP											0													58.0	58.0	58.0					7																	87051504		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2249A>G	7.37:g.87051504T>C	ENSP00000265723:p.Lys750Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.K750R	ENST00000265723.4	37	c.2249	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358010	0.24598	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	6.17	6.17	0.99709	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.143021	0.64402	D	0.000008	T	0.74222	0.3688	N	0.04655	-0.195	0.35928	D	0.83229	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.17979	0.011;0.011;0.02	T	0.71991	-0.4425	10	0.29301	T	0.29	-18.4821	6.7524	0.23495	0.0:0.0759:0.1543:0.7698	.	750;750;750	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	R	750	ENSP00000352135:K750R;ENSP00000351172:K750R;ENSP00000265723:K750R;ENSP00000392983:K750R;ENSP00000437465:K750R	ENSP00000265723:K750R	K	-	2	0	ABCB4	86889440	0.999000	0.42202	0.997000	0.53966	0.922000	0.55478	2.104000	0.41815	2.371000	0.80710	0.533000	0.62120	AAG	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000005471		0.363	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	90	0.00	0	T	NM_000443		87051504	87051504	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	missense	74	33.93	38	SNP	0.985	C
ABCC10	89845	genome.wustl.edu	37	6	43416708	43416708	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:43416708G>A	ENST00000372530.4	+	19	4264	c.4049G>A	c.(4048-4050)aGg>aAg	p.R1350K	ABCC10_ENST00000244533.3_Missense_Mutation_p.R1322K	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1350	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CATAAGGACAGGGCCTTGTGG	0.572																																						dbGAP											0													59.0	60.0	60.0					6																	43416708		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4049G>A	6.37:g.43416708G>A	ENSP00000361608:p.Arg1350Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.R1350K	ENST00000372530.4	37	c.4049	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970440	0.34754	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.90069	-2.61;-2.61	5.7	-0.519	0.11939	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.789026	0.12403	N	0.471957	T	0.55768	0.1941	N	0.16016	0.355	0.09310	N	1	B;B	0.14805	0.007;0.011	B;B	0.22386	0.039;0.024	T	0.48581	-0.9023	10	0.22706	T	0.39	-0.1001	2.1589	0.03819	0.3058:0.3356:0.2546:0.104	.	1322;1350	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	K	1350;1322;101	ENSP00000361608:R1350K;ENSP00000244533:R1322K	ENSP00000244533:R1322K	R	+	2	0	ABCC10	43524686	0.000000	0.05858	0.028000	0.17463	0.637000	0.38172	-0.147000	0.10234	0.321000	0.23259	0.585000	0.79938	AGG	ABCC10	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000124574		0.572	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	233	0.43	1	G	NM_033450		43416708	43416708	+1	no_errors	ENST00000372530	ensembl	human	known	69_37n	missense	144	37.93	88	SNP	0.000	A
ABCD3	5825	genome.wustl.edu	37	1	94933479	94933479	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:94933479G>A	ENST00000370214.4	+	4	275	c.251G>A	c.(250-252)gGt>gAt	p.G84D	ABCD3_ENST00000315713.5_Missense_Mutation_p.G84D|ABCD3_ENST00000454898.2_Missense_Mutation_p.G108D|ABCD3_ENST00000394233.2_Missense_Mutation_p.G84D|ABCD3_ENST00000536817.1_Missense_Mutation_p.G11D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	84	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTAGACAGGTTACTTGGTA	0.308																																						dbGAP											0													162.0	160.0	161.0					1																	94933479		2203	4298	6501	-	-	-	SO:0001583	missense	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.251G>A	1.37:g.94933479G>A	ENSP00000359233:p.Gly84Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.G108D	ENST00000370214.4	37	c.323	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922311	0.73213	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99691	-6.42;-6.42;-6.42;-6.42;-6.42	5.51	5.51	0.81932	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);	0.174094	0.50627	D	0.000114	D	0.99775	0.9907	M	0.89095	3.005	0.58432	D	0.999995	D;D;P;D	0.89917	0.961;1.0;0.93;0.999	P;D;P;D	0.79108	0.908;0.992;0.908;0.989	D	0.97510	1.0066	10	0.72032	D	0.01	-14.4764	19.4088	0.94660	0.0:0.0:1.0:0.0	.	108;84;84;84	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	D	84;108;11;84;84	ENSP00000377780:G84D;ENSP00000403357:G108D;ENSP00000440692:G11D;ENSP00000359233:G84D;ENSP00000326880:G84D	ENSP00000326880:G84D	G	+	2	0	ABCD3	94706067	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.163000	0.77524	2.580000	0.87095	0.561000	0.74099	GGT	ABCD3	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,tigrfam_FA_transporter	ENSG00000117528		0.308	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	480	0.00	0	G	NM_002858		94933479	94933479	+1	no_errors	ENST00000454898	ensembl	human	known	69_37n	missense	354	37.89	216	SNP	1.000	A
ABLIM2	84448	genome.wustl.edu	37	4	7968787	7968787	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:7968787C>T	ENST00000341937.5	-	20	1830	c.1766G>A	c.(1765-1767)aGc>aAc	p.S589N	ABLIM2_ENST00000514025.1_Missense_Mutation_p.S324N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.S551N|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S509N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S549N|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S499N|ABLIM2_ENST00000318888.4_Missense_Mutation_p.S324N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S550N|ABLIM2_ENST00000361737.5_Missense_Mutation_p.S509N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S537N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S623N	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	589	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTCCTCGATGCTCATCCCAAA	0.542																																						dbGAP											0													207.0	226.0	220.0					4																	7968787		2132	4276	6408	-	-	-	SO:0001583	missense	0			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1766G>A	4.37:g.7968787C>T	ENSP00000342813:p.Ser589Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.S623N	ENST00000341937.5	37	c.1868	CCDS47013.1	4	.	.	.	.	.	.	.	.	.	.	c	10.97	1.501169	0.26861	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872	T;T;T;T;T;T;T;T;T;T;T	0.47528	1.53;1.8;1.71;1.53;0.84;0.84;1.69;1.78;1.73;1.47;1.51	4.51	2.71	0.32032	Villin headpiece (5);	0.250004	0.38959	N	0.001519	T	0.38957	0.1060	L	0.53249	1.67	0.41228	D	0.986557	B;B;B;B;B;B;B;B	0.25609	0.0;0.001;0.13;0.001;0.013;0.001;0.0;0.006	B;B;B;B;B;B;B;B	0.26517	0.002;0.018;0.037;0.012;0.07;0.007;0.005;0.046	T	0.30765	-0.9967	10	0.51188	T	0.08	.	6.0505	0.19783	0.0:0.5132:0.3657:0.121	.	499;550;509;589;537;324;551;623	Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;.;.;ABLM2_HUMAN;.;.;.;.	N	509;622;551;549;509;324;324;623;589;550;499;537	ENSP00000354887:S509N;ENSP00000296372:S551N;ENSP00000441255:S549N;ENSP00000444365:S509N;ENSP00000317020:S324N;ENSP00000423661:S324N;ENSP00000393511:S623N;ENSP00000342813:S589N;ENSP00000355003:S550N;ENSP00000384658:S499N;ENSP00000421283:S537N	ENSP00000296372:S551N	S	-	2	0	ABLIM2	8019687	0.994000	0.37717	0.668000	0.29813	0.187000	0.23431	2.285000	0.43487	0.888000	0.36160	0.457000	0.33378	AGC	ABLIM2	-	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000163995		0.542	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	HGNC	protein_coding	OTTHUMT00000358862.2	165	0.00	0	C	NM_001130083		7968787	7968787	-1	no_errors	ENST00000447017	ensembl	human	known	69_37n	missense	109	27.81	42	SNP	0.983	T
ABLIM2	84448	genome.wustl.edu	37	4	7994611	7994611	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:7994611C>A	ENST00000341937.5	-	16	1624	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N	ABLIM2_ENST00000514025.1_Missense_Mutation_p.K255N|ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000318888.4_Missense_Mutation_p.K255N|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.K468N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.K554N	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	520					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCAAGCCATTCTTTCCATGTC	0.562																																						dbGAP											0													57.0	56.0	56.0					4																	7994611		1568	3582	5150	-	-	-	SO:0001583	missense	0			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1560G>T	4.37:g.7994611C>A	ENSP00000342813:p.Lys520Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.K554N	ENST00000341937.5	37	c.1662	CCDS47013.1	4	.	.	.	.	.	.	.	.	.	.	c	14.36	2.513386	0.44660	.	.	ENSG00000163995	ENST00000400045;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000505872	T;T;T;T;T	0.50548	0.74;0.74;1.67;1.67;1.42	3.77	2.91	0.33838	.	0.300501	0.30142	N	0.010310	T	0.50939	0.1645	L	0.54323	1.7	0.36231	D	0.852638	B;P;P;P	0.52061	0.435;0.95;0.95;0.774	B;P;P;B	0.51918	0.275;0.684;0.635;0.423	T	0.61850	-0.6978	10	0.66056	D	0.02	.	9.8878	0.41272	0.2045:0.7955:0.0:0.0	.	520;468;255;554	Q6H8Q1;Q19VH0;Q6H8Q1-4;E9PF39	ABLM2_HUMAN;.;.;.	N	553;255;255;554;520;468	ENSP00000317020:K255N;ENSP00000423661:K255N;ENSP00000393511:K554N;ENSP00000342813:K520N;ENSP00000421283:K468N	ENSP00000317020:K255N	K	-	3	2	ABLIM2	8045511	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.951000	0.40333	0.903000	0.36546	0.643000	0.83706	AAG	ABLIM2	-	NULL	ENSG00000163995		0.562	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	HGNC	protein_coding	OTTHUMT00000358862.2	214	0.00	0	C	NM_001130083		7994611	7994611	-1	no_errors	ENST00000447017	ensembl	human	known	69_37n	missense	120	36.17	68	SNP	1.000	A
ACO2	50	genome.wustl.edu	37	22	41903928	41903928	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:41903928G>T	ENST00000216254.4	+	3	329	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	ACO2_ENST00000396512.3_Missense_Mutation_p.A103S	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	103					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGATGCGACGGCCCAGATGGC	0.622																																						dbGAP											0													50.0	45.0	47.0					22																	41903928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.307G>T	22.37:g.41903928G>T	ENSP00000216254:p.Ala103Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like	p.A103S	ENST00000216254.4	37	c.307	CCDS14017.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.166058	0.94768	.	.	ENSG00000100412	ENST00000216254;ENST00000396512	T;T	0.40476	1.03;1.03	4.81	4.81	0.61882	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.93150	3.385	0.80722	D	1	D;D	0.76494	0.988;0.999	D;D	0.83275	0.951;0.996	T	0.82671	-0.0342	10	0.87932	D	0	.	18.2301	0.89933	0.0:0.0:1.0:0.0	.	103;103	A2A274;Q99798	.;ACON_HUMAN	S	103	ENSP00000216254:A103S;ENSP00000379769:A103S	ENSP00000216254:A103S	A	+	1	0	ACO2	40233874	1.000000	0.71417	0.985000	0.45067	0.952000	0.60782	9.397000	0.97276	2.361000	0.80049	0.491000	0.48974	GCC	ACO2	-	pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like	ENSG00000100412		0.622	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO2	HGNC	protein_coding	OTTHUMT00000259151.1	47	0.00	0	G	NM_001098		41903928	41903928	+1	no_errors	ENST00000216254	ensembl	human	known	69_37n	missense	31	44.64	25	SNP	0.999	T
ACSBG1	23205	genome.wustl.edu	37	15	78465994	78465994	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:78465994T>C	ENST00000258873.4	-	13	2235	c.2030A>G	c.(2029-2031)tAc>tGc	p.Y677C	ACSBG1_ENST00000541759.1_Missense_Mutation_p.Y435C|ACSBG1_ENST00000560817.1_Missense_Mutation_p.Y435C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	677					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGGATGTGGTAGGGCCGGGC	0.557																																						dbGAP											0													82.0	70.0	74.0					15																	78465994		2196	4293	6489	-	-	-	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2030A>G	15.37:g.78465994T>C	ENSP00000258873:p.Tyr677Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Y677C	ENST00000258873.4	37	c.2030	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784071	0.70222	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.09350	2.99;2.99	5.25	5.25	0.73442	.	0.184403	0.38111	N	0.001810	T	0.17365	0.0417	L	0.29908	0.895	0.44762	D	0.997765	D;P	0.57571	0.98;0.915	P;P	0.55391	0.775;0.719	T	0.00787	-1.1566	10	0.87932	D	0	-27.8949	14.4837	0.67599	0.0:0.0:0.0:1.0	.	673;677	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	C	677;435	ENSP00000258873:Y677C;ENSP00000439955:Y435C	ENSP00000258873:Y677C	Y	-	2	0	ACSBG1	76253049	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.971000	0.70440	2.203000	0.70933	0.482000	0.46254	TAC	ACSBG1	-	NULL	ENSG00000103740		0.557	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	169	0.00	0	T	NM_015162		78465994	78465994	-1	no_errors	ENST00000258873	ensembl	human	known	69_37n	missense	94	43.71	73	SNP	1.000	C
ACSF3	197322	genome.wustl.edu	37	16	89178653	89178653	+	Splice_Site	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:89178653A>G	ENST00000317447.4	+	5	1353	c.976A>G	c.(976-978)Agg>Ggg	p.R326G	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Splice_Site_p.R61G|ACSF3_ENST00000406948.3_Splice_Site_p.R326G	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	326					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		AGAAAAAATTAGGTAAGTGAA	0.418																																						dbGAP											0													112.0	118.0	116.0					16																	89178653		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.977+1A>G	16.37:g.89178653A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R326G	ENST00000317447.4	37	c.976	CCDS10974.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.83|11.83	1.757007|1.757007	0.31137|0.31137	.|.	.|.	ENSG00000176715|ENSG00000176715	ENST00000537895;ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543;ENST00000538340|ENST00000543676	T;T;T;T;T;T;D|.	0.86366|.	0.49;0.49;0.49;0.49;0.49;0.49;-2.11|.	4.35|4.35	3.23|3.23	0.37069|0.37069	AMP-dependent synthetase/ligase (1);|.	0.049154|.	0.85682|.	D|.	0.000000|.	D|.	0.85478|.	0.5706|.	H|H	0.96996|0.96996	3.92|3.92	0.47584|0.47584	D|D	0.999467|0.999467	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|.	0.86992|.	0.2111|.	10|.	0.87932|.	D|.	0|.	-21.3033|-21.3033	10.4875|10.4875	0.44731|0.44731	0.6888:0.3112:0.0:0.0|0.6888:0.3112:0.0:0.0	.|.	326|.	Q4G176|.	ACSF3_HUMAN|.	G|W	61;326;61;326;61;61;101|73	ENSP00000439201:R61G;ENSP00000320646:R326G;ENSP00000445397:R61G;ENSP00000384627:R326G;ENSP00000367596:R61G;ENSP00000442781:R61G;ENSP00000445870:R101G|.	ENSP00000320646:R326G|.	R|X	+|+	1|2	2|0	ACSF3|ACSF3	87706154|87706154	1.000000|1.000000	0.71417|0.71417	0.319000|0.319000	0.25293|0.25293	0.106000|0.106000	0.19336|0.19336	3.911000|3.911000	0.56378|0.56378	0.520000|0.520000	0.28426|0.28426	0.456000|0.456000	0.33151|0.33151	AGG|TAG	ACSF3	-	pfam_AMP-dep_Synth/Lig	ENSG00000176715		0.418	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1	134	0.00	0	A	NM_174917	Missense_Mutation	89178653	89178653	+1	no_errors	ENST00000317447	ensembl	human	known	69_37n	missense	94	29.85	40	SNP	0.995	G
ACTA2	59	genome.wustl.edu	37	10	90706831	90706831	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:90706831T>C	ENST00000458208.1	-	3	733				STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Intron|ACTA2_ENST00000480297.1_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta						glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		catgaactcatcattttttat	0.388																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.258+183A>G	10.37:g.90706831T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8A4|P03996|P04108|Q6FI19	RNA	SNP	-	NULL	ENST00000458208.1	37	NULL	CCDS7392.1	10																																																																																			ACTA2	-	-	ENSG00000107796		0.388	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	27	0.00	0	T	NM_001613		90706831	90706831	-1	no_errors	ENST00000488967	ensembl	human	known	69_37n	rna	25	30.56	11	SNP	0.092	C
ACTR1A	10121	genome.wustl.edu	37	10	104240642	104240642	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:104240642G>A	ENST00000369905.4	-	11	1172	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Missense_Mutation_p.S323F|ACTR1A_ENST00000545684.1_Missense_Mutation_p.S296F|ACTR1A_ENST00000487599.1_3'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	370					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCTGTGGATGGATCGGGCACC	0.488																																						dbGAP											0													147.0	131.0	136.0					10																	104240642		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.1109C>T	10.37:g.104240642G>A	ENSP00000358921:p.Ser370Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B0|P42024	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S370F	ENST00000369905.4	37	c.1109	CCDS7536.1	10	.	.	.	.	.	.	.	.	.	.	G	15.32	2.800072	0.50208	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.94232	-3.38;-3.38;-3.38	5.22	5.22	0.72569	.	0.082244	0.50627	D	0.000102	D	0.88998	0.6590	N	0.05230	-0.09	0.45261	D	0.998262	B	0.20780	0.048	B	0.36134	0.218	D	0.85812	0.1380	10	0.87932	D	0	.	18.9683	0.92706	0.0:0.0:1.0:0.0	.	370	P61163	ACTZ_HUMAN	F	370;296;323	ENSP00000358921:S370F;ENSP00000438890:S296F;ENSP00000406028:S323F	ENSP00000358921:S370F	S	-	2	0	ACTR1A	104230632	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.598000	0.74122	2.722000	0.93159	0.462000	0.41574	TCC	ACTR1A	-	pfam_Actin-like,smart_Actin-like	ENSG00000138107		0.488	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1A	HGNC	protein_coding	OTTHUMT00000050053.1	305	0.00	0	G			104240642	104240642	-1	no_errors	ENST00000369905	ensembl	human	known	69_37n	missense	195	36.27	111	SNP	1.000	A
ACTR5	79913	genome.wustl.edu	37	20	37383735	37383735	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:37383735G>A	ENST00000243903.4	+	4	948	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	304					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAATTGCGGCGGCTGCAGGAG	0.572																																						dbGAP											0													30.0	34.0	33.0					20																	37383735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.911G>A	20.37:g.37383735G>A	ENSP00000243903:p.Arg304Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like	p.R304Q	ENST00000243903.4	37	c.911	CCDS13308.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.671037	0.96754	.	.	ENSG00000101442	ENST00000243903	D	0.97430	-4.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.91459	3.21	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98997	1.0810	10	0.56958	D	0.05	-39.5943	20.1726	0.98160	0.0:0.0:1.0:0.0	.	304	Q9H9F9	ARP5_HUMAN	Q	304	ENSP00000243903:R304Q	ENSP00000243903:R304Q	R	+	2	0	ACTR5	36817149	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	8.956000	0.93066	2.777000	0.95525	0.655000	0.94253	CGG	ACTR5	-	pfam_Actin-like,smart_Actin-like	ENSG00000101442		0.572	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	90	0.00	0	G	NM_024855		37383735	37383735	+1	no_errors	ENST00000243903	ensembl	human	known	69_37n	missense	85	33.59	43	SNP	1.000	A
ACTR6	64431	genome.wustl.edu	37	12	100613799	100613799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:100613799delT	ENST00000188312.2	+	10	1701	c.936delT	c.(934-936)catfs	p.H312fs	ACTR6_ENST00000551617.1_Intron|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.H230fs|ACTR6_ENST00000552376.1_Intron	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	312						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGCAGCCGCATTTTTTTAAGA	0.378																																						dbGAP											0													67.0	68.0	68.0					12																	100613799		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.936delT	12.37:g.100613799delT	ENSP00000188312:p.His312fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like	p.F314fs	ENST00000188312.2	37	c.936	CCDS9074.1	12																																																																																			ACTR6	-	pfam_Actin-like,smart_Actin-like	ENSG00000075089		0.378	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	186	0.00	0	T	NM_022496		100613799	100613799	+1	no_errors	ENST00000188312	ensembl	human	known	69_37n	frame_shift_del	135	34.27	73	DEL	1.000	-
ADAD2	161931	genome.wustl.edu	37	16	84228109	84228109	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:84228109T>C	ENST00000315906.5	+	2	532	c.480T>C	c.(478-480)acT>acC	p.T160T	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Silent_p.T232T|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	160	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTGCGGGCACTGCGAATAGCA	0.652																																						dbGAP											0													37.0	36.0	36.0					16																	84228109		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.480T>C	16.37:g.84228109T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.L85P	ENST00000315906.5	37	c.254	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	T	0.234	-1.018581	0.02078	.	.	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	0.999997	B	0.12630	0.006	B	0.12156	0.007	T	0.28618	-1.0038	7	0.87932	D	0	-11.6529	1.8421	0.03152	0.1957:0.1268:0.1895:0.488	.	85	Q6ZW55	.	R	71	.	ENSP00000444170:Q71R	Q	-	2	0	AC009123.1	82785610	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.606000	0.00888	-2.612000	0.00445	-0.473000	0.04963	CAG	ADAD2	-	pfam_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000140955		0.652	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	75	0.00	0	T	NM_139174		84228109	84228109	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000567685	ensembl	human	novel	69_37n	missense	57	42.42	42	SNP	0.000	C
ADAM15	8751	genome.wustl.edu	37	1	155035024	155035024	+	3'UTR	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155035024A>G	ENST00000356955.2	+	0	2739				ADAM15_ENST00000531455.1_3'UTR|ADAM15_ENST00000449910.2_3'UTR|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000359280.4_3'UTR|ADAM15_ENST00000368413.1_3'UTR|EFNA4_ENST00000427683.2_5'Flank|EFNA3_ENST00000505139.1_5'Flank|EFNA4_ENST00000368409.3_5'Flank|ADAM15_ENST00000271836.6_3'UTR|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000360674.4_3'UTR|ADAM15_ENST00000368410.2_3'UTR|ADAM15_ENST00000355956.2_3'UTR|EFNA3_ENST00000556931.1_5'Flank|ADAM15_ENST00000368412.3_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15						angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TAGGGCTTCAAGAGGCGGGCG	0.647											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													17.0	17.0	17.0					1																	155035024		2201	4299	6500	-	-	-	SO:0001624	3_prime_UTR_variant	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.*46A>G	1.37:g.155035024A>G		Somatic	1767	WXS	Illumina GAIIx	Phase_IV	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	RNA	SNP	-	NULL	ENST00000356955.2	37	NULL	CCDS1087.1	1																																																																																			ADAM15	-	-	ENSG00000143537		0.647	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	38	0.00	0	A	NM_003815		155035024	155035024	+1	no_errors	ENST00000461234	ensembl	human	known	69_37n	rna	33	34.00	17	SNP	0.047	G
ADAMDEC1	27299	genome.wustl.edu	37	8	24262916	24262916	+	3'UTR	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:24262916T>G	ENST00000256412.4	+	0	1738				ADAMDEC1_ENST00000519953.1_3'UTR|ADAMDEC1_ENST00000538205.1_3'UTR|ADAMDEC1_ENST00000522298.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1						immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGTCTTTCACTTGTCATTCTA	0.378																																					Ovarian(147;687 1849 3699 25981 31337)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.*105T>G	8.37:g.24262916T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAK5	RNA	SNP	-	NULL	ENST00000256412.4	37	NULL	CCDS6044.1	8																																																																																			ADAMDEC1	-	-	ENSG00000134028		0.378	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	125	0.00	0	T	NM_014479		24262916	24262916	+1	no_errors	ENST00000519953	ensembl	human	putative	69_37n	rna	77	35.29	42	SNP	0.000	G
ADAMTS15	170689	genome.wustl.edu	37	11	130342942	130342942	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:130342942G>A	ENST00000299164.2	+	8	2079	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	693	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCCCGCCAGGCATGGCTACA	0.577																																						dbGAP											0													52.0	58.0	56.0					11																	130342942		2199	4297	6496	-	-	-	SO:0001630	splice_region_variant	0			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2079-1G>A	11.37:g.130342942G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MI6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.M693I	ENST00000299164.2	37	c.2079	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760391	0.31137	.	.	ENSG00000166106	ENST00000299164	T	0.50813	0.73	5.67	5.67	0.87782	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.26122	0.0637	N	0.05230	-0.09	0.54753	D	0.999983	B	0.02656	0.0	B	0.04013	0.001	T	0.14090	-1.0485	8	.	.	.	.	13.0243	0.58806	0.0736:0.0:0.9264:0.0	.	693	Q8TE58	ATS15_HUMAN	I	693	ENSP00000299164:M693I	.	M	+	3	0	ADAMTS15	129848152	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	1.200000	0.32247	2.686000	0.91538	0.561000	0.74099	ATG	ADAMTS15	-	pfam_ADAM_spacer1	ENSG00000166106		0.577	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	65	0.00	0	G	NM_139055	Missense_Mutation	130342942	130342942	+1	no_errors	ENST00000299164	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	A
ADAMTS17	170691	genome.wustl.edu	37	15	100514630	100514630	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:100514630G>A	ENST00000268070.4	-	22	3370	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	CTD-3076O17.1_ENST00000528696.3_RNA|CTD-3076O17.2_ENST00000559400.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	1089						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1089C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTGGCTGGCGCATCTTGTTT	0.592																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											63.0	60.0	61.0					15																	100514630		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.3265C>T	15.37:g.100514630G>A	ENSP00000268070:p.Arg1089Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1089C	ENST00000268070.4	37	c.3265	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.329595	0.95733	.	.	ENSG00000140470	ENST00000268070	T	0.62788	0.0	5.7	5.7	0.88788	.	0.355468	0.27482	N	0.019170	T	0.49440	0.1557	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	B	0.44315	0.446	T	0.59225	-0.7494	10	0.56958	D	0.05	.	19.8288	0.96627	0.0:0.0:1.0:0.0	.	1089	Q8TE56	ATS17_HUMAN	C	1089	ENSP00000268070:R1089C	ENSP00000268070:R1089C	R	-	1	0	ADAMTS17	98332153	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.006000	0.76329	2.679000	0.91253	0.650000	0.86243	CGC	ADAMTS17	-	NULL	ENSG00000140470		0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	142	0.70	1	G	NM_139057		100514630	100514630	-1	no_errors	ENST00000268070	ensembl	human	known	69_37n	missense	70	47.10	65	SNP	1.000	A
ADAMTS20	80070	genome.wustl.edu	37	12	43822533	43822533	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:43822533C>A	ENST00000389420.3	-	25	3558	c.3559G>T	c.(3559-3561)Gca>Tca	p.A1187S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1187S|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A305S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1187	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GATTCATCTGCTATTCTATCA	0.468																																						dbGAP											0													107.0	99.0	102.0					12																	43822533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3559G>T	12.37:g.43822533C>A	ENSP00000374071:p.Ala1187Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.A1187S	ENST00000389420.3	37	c.3559	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479760	0.84747	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.09	4.17	0.49024	.	0.129251	0.34291	N	0.004099	T	0.69913	0.3164	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73662	-0.3912	10	0.72032	D	0.01	.	15.4215	0.75015	0.1406:0.8594:0.0:0.0	.	1187;305	P59510;E9PBD5	ATS20_HUMAN;.	S	1187;317;305;1187;1187	ENSP00000374071:A1187S;ENSP00000447427:A317S;ENSP00000378911:A305S;ENSP00000448341:A1187S	ENSP00000374068:A1187S	A	-	1	0	ADAMTS20	42108800	1.000000	0.71417	0.813000	0.32504	0.960000	0.62799	5.572000	0.67411	1.413000	0.46997	0.585000	0.79938	GCA	ADAMTS20	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.468	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	167	0.00	0	C	NM_025003		43822533	43822533	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	138	33.33	69	SNP	1.000	A
ADCY7	113	genome.wustl.edu	37	16	50324419	50324419	+	Missense_Mutation	SNP	G	G	A	rs373203691		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:50324419G>A	ENST00000394697.2	+	3	563	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	ADCY7_ENST00000538642.1_Missense_Mutation_p.V75M|ADCY7_ENST00000254235.3_Missense_Mutation_p.V75M|ADCY7_ENST00000566433.2_Missense_Mutation_p.V75M|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Missense_Mutation_p.V75M			P51828	ADCY7_HUMAN	adenylate cyclase 7	75					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GGTGCTGGCGGTGTTTGCGGC	0.652																																						dbGAP											0													87.0	79.0	82.0					16																	50324419		2198	4300	6498	-	-	-	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.223G>A	16.37:g.50324419G>A	ENSP00000378187:p.Val75Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V75M	ENST00000394697.2	37	c.223	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723421	0.15439	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.82619	-1.13;-1.63;-1.14;-1.63	4.81	0.275	0.15659	.	1.579080	0.04501	N	0.381185	T	0.70281	0.3206	N	0.17082	0.46	0.20196	N	0.99992	B;B	0.29136	0.033;0.234	B;B	0.29716	0.049;0.106	T	0.58618	-0.7605	10	0.36615	T	0.2	.	5.5405	0.17036	0.2455:0.281:0.4735:0.0	.	75;75	P51828;F5H4D1	ADCY7_HUMAN;.	M	75	ENSP00000445046:V75M;ENSP00000378187:V75M;ENSP00000437788:V75M;ENSP00000254235:V75M	ENSP00000254235:V75M	V	+	1	0	ADCY7	48881920	0.624000	0.27102	0.155000	0.22561	0.005000	0.04900	0.722000	0.25925	0.223000	0.20920	0.455000	0.32223	GTG	ADCY7	-	NULL	ENSG00000121281		0.652	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	174	0.00	0	G			50324419	50324419	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	missense	117	37.10	69	SNP	0.141	A
ADCY7	113	genome.wustl.edu	37	16	50324499	50324499	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:50324499G>T	ENST00000394697.2	+	3	643	c.303G>T	c.(301-303)tgG>tgT	p.W101C	ADCY7_ENST00000538642.1_Missense_Mutation_p.W101C|ADCY7_ENST00000254235.3_Missense_Mutation_p.W101C|ADCY7_ENST00000566433.2_Missense_Mutation_p.W101C|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Missense_Mutation_p.W101C			P51828	ADCY7_HUMAN	adenylate cyclase 7	101					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGCTCACCTGGGCCTGCTTGG	0.647																																						dbGAP											0													76.0	69.0	72.0					16																	50324499		2198	4300	6498	-	-	-	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.303G>T	16.37:g.50324499G>T	ENSP00000378187:p.Trp101Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.W101C	ENST00000394697.2	37	c.303	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049013	0.55110	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.82893	-1.18;-1.66;-1.13;-1.66	4.82	4.82	0.62117	.	0.000000	0.39274	U	0.001419	D	0.88869	0.6554	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72982	0.94;0.979	D	0.88583	0.3138	10	0.49607	T	0.09	.	12.6606	0.56811	0.0:0.1669:0.8331:0.0	.	101;101	P51828;F5H4D1	ADCY7_HUMAN;.	C	101	ENSP00000445046:W101C;ENSP00000378187:W101C;ENSP00000437788:W101C;ENSP00000254235:W101C	ENSP00000254235:W101C	W	+	3	0	ADCY7	48882000	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.103000	0.57783	2.495000	0.84180	0.462000	0.41574	TGG	ADCY7	-	NULL	ENSG00000121281		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	212	0.00	0	G			50324499	50324499	+1	no_errors	ENST00000254235	ensembl	human	known	69_37n	missense	114	44.98	94	SNP	1.000	T
ADH1A	124	genome.wustl.edu	37	4	100200633	100200633	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:100200633T>C	ENST00000209668.2	-	8	1166	c.1053A>G	c.(1051-1053)ttA>ttG	p.L351L	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	351					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTCAAAAGGTAAAACATGGG	0.328																																						dbGAP											0													92.0	94.0	94.0					4																	100200633		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.1053A>G	4.37:g.100200633T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3E3|Q17R68	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.L351	ENST00000209668.2	37	c.1053	CCDS3648.1	4																																																																																			ADH1A	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000187758		0.328	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1A	HGNC	protein_coding	OTTHUMT00000253669.1	323	0.31	1	T	NM_000667		100200633	100200633	-1	no_errors	ENST00000209668	ensembl	human	known	69_37n	silent	209	37.17	126	SNP	1.000	C
ADRA1D	146	genome.wustl.edu	37	20	4229077	4229077	+	Silent	SNP	G	G	A	rs200594819		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:4229077G>A	ENST00000379453.4	-	1	644	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	176					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AGCACAGCACGTCCACGGCGG	0.657													g|||	1	0.000199681	0.0	0.0014	5008	,	,		13697	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													32.0	39.0	37.0					20																	4229077		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.528C>T	20.37:g.4229077G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPY0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A1A,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.D176	ENST00000379453.4	37	c.528	CCDS13079.1	20																																																																																			ADRA1D	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000171873		0.657	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	47	0.00	0	G	NM_000678		4229077	4229077	-1	no_errors	ENST00000379453	ensembl	human	known	69_37n	silent	33	34.00	17	SNP	1.000	A
ADRB2	154	genome.wustl.edu	37	5	148206709	148206709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:148206709G>A	ENST00000305988.4	+	1	554	c.315G>A	c.(313-315)tgG>tgA	p.W105*		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	105					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GCAACTTCTGGTGCGAGTTTT	0.527																																						dbGAP											0													129.0	117.0	121.0					5																	148206709		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.315G>A	5.37:g.148206709G>A	ENSP00000305372:p.Trp105*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adrgc_rcpt_B2,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.W105*	ENST00000305988.4	37	c.315	CCDS4292.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.933610	0.97122	.	.	ENSG00000169252	ENST00000305988	.	.	.	5.4	5.4	0.78164	.	0.120124	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3757	0.94508	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000305372:W105X	W	+	3	0	ADRB2	148186902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.320000	0.43797	2.814000	0.96858	0.655000	0.94253	TGG	ADRB2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169252		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	303	0.00	0	G	NM_000024		148206709	148206709	+1	no_errors	ENST00000305988	ensembl	human	known	69_37n	nonsense	181	35.69	101	SNP	1.000	A
ADRB3	155	genome.wustl.edu	37	8	37823790	37823790	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:37823790C>T	ENST00000345060.3	-	1	693	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	66					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	TCTGGAGTCTCGGAGTCCAGG	0.697																																						dbGAP											0													29.0	30.0	30.0					8																	37823790		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.198G>A	8.37:g.37823790C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4JFT4	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adrgc_rcpt_B3,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.P66	ENST00000345060.3	37	c.198	CCDS6099.1	8																																																																																			ADRB3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188778		0.697	ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB3	HGNC	protein_coding	OTTHUMT00000376826.1	37	0.00	0	C	NM_000025		37823790	37823790	-1	no_errors	ENST00000345060	ensembl	human	known	69_37n	silent	19	34.48	10	SNP	0.970	T
AFF2	2334	genome.wustl.edu	37	X	148037681	148037681	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:148037681G>T	ENST00000370460.2	+	11	2585	c.2106G>T	c.(2104-2106)aaG>aaT	p.K702N	AFF2_ENST00000286437.5_Missense_Mutation_p.K343N|AFF2_ENST00000370457.5_Missense_Mutation_p.K669N|AFF2_ENST00000342251.3_Missense_Mutation_p.K669N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	702					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGCAAGATTGTGCCAA	0.502																																						dbGAP											0													94.0	96.0	95.0					X																	148037681		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2106G>T	X.37:g.148037681G>T	ENSP00000359489:p.Lys702Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K702N	ENST00000370460.2	37	c.2106	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510912	0.44660	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.67	1.88	0.25563	.	0.104802	0.64402	D	0.000007	T	0.72011	0.3408	M	0.71581	2.175	0.43230	D	0.995127	P;P;P;P;P;P	0.51537	0.946;0.934;0.934;0.934;0.934;0.946	P;P;P;P;P;P	0.56916	0.809;0.71;0.71;0.71;0.71;0.809	T	0.69510	-0.5126	10	0.48119	T	0.1	.	7.1763	0.25747	0.558:0.0:0.442:0.0	.	343;667;669;663;692;702	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	702;669;669;343	ENSP00000359489:K702N;ENSP00000359486:K669N;ENSP00000345459:K669N;ENSP00000286437:K343N	ENSP00000286437:K343N	K	+	3	2	AFF2	147845381	1.000000	0.71417	0.273000	0.24645	0.978000	0.69477	1.941000	0.40233	0.545000	0.28902	0.600000	0.82982	AAG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.502	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	154	0.00	0	G	NM_002025		148037681	148037681	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	99	42.44	73	SNP	0.959	T
AGAP7P	653268	genome.wustl.edu	37	10	51465003	51465003	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:51465003T>C	ENST00000374095.5	-	7	1578	c.1453A>G	c.(1453-1455)Agt>Ggt	p.S485G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		485	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GTGCCAAGACTGCGGTGGATA	0.532																																						dbGAP											0													28.0	31.0	30.0					10																	51465003		2047	4192	6239	-	-	-	SO:0001583	missense	0																														ENST00000374095.5:c.1453A>G	10.37:g.51465003T>C	ENSP00000363208:p.Ser485Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S485G	ENST00000374095.5	37	c.1453	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	12.51	1.958708	0.34565	.	.	ENSG00000204169	ENST00000374095	T	0.43688	0.94	.	.	.	.	0.047565	0.85682	D	0.000000	T	0.27313	0.0670	N	0.16903	0.455	0.26199	N	0.979474	B	0.22276	0.067	B	0.36608	0.229	T	0.26985	-1.0087	9	0.72032	D	0.01	.	4.6093	0.12395	0.0:5.0E-4:0.0:0.9995	.	485	Q5VUJ5	AGAP7_HUMAN	G	485	ENSP00000363208:S485G	ENSP00000363208:S485G	S	-	1	0	AGAP7	51135009	1.000000	0.71417	0.005000	0.12908	0.005000	0.04900	5.375000	0.66173	0.149000	0.19098	0.147000	0.16070	AGT	AGAP7	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	ENSG00000204169		0.532	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	463	0.00	0	T			51465003	51465003	-1	no_errors	ENST00000374095	ensembl	human	known	69_37n	missense	377	17.47	80	SNP	1.000	C
AGFG2	3268	genome.wustl.edu	37	7	100150976	100150976	+	Frame_Shift_Del	DEL	C	C	-	rs200613398		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:100150976delC	ENST00000300176.4	+	4	560	c.438delC	c.(436-438)gtcfs	p.V146fs	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	146	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGGTATGTCCCCCCAGACC	0.517																																						dbGAP											0													103.0	108.0	106.0					7																	100150976		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.438delC	7.37:g.100150976delC	ENSP00000300176:p.Val146fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75429|Q96AB9|Q96GL4	Frame_Shift_Del	DEL	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.P148fs	ENST00000300176.4	37	c.438	CCDS5697.1	7																																																																																			AGFG2	-	superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000106351		0.517	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	293	0.00	0	C	NM_006076		100150976	100150976	+1	no_errors	ENST00000300176	ensembl	human	known	69_37n	frame_shift_del	164	35.82	96	DEL	0.999	-
AGBL3	340351	genome.wustl.edu	37	7	134719638	134719638	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:134719638A>G	ENST00000436302.2	+	7	1549	c.1296A>G	c.(1294-1296)gaA>gaG	p.E432E	AGBL3_ENST00000458078.1_Silent_p.E406E|AGBL3_ENST00000435976.2_Silent_p.E432E	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	432						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						TCCTGAAGGAATCTTTTCCTT	0.388																																						dbGAP											0													128.0	105.0	112.0					7																	134719638		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.1296A>G	7.37:g.134719638A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z827|Q9H965	Silent	SNP	pfam_Peptidase_M14	p.E406	ENST00000436302.2	37	c.1218	CCDS47718.1	7																																																																																			AGBL3	-	pfam_Peptidase_M14	ENSG00000146856		0.388	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	183	0.00	0	A	NM_178563		134719638	134719638	+1	no_errors	ENST00000458078	ensembl	human	known	69_37n	silent	207	10.39	24	SNP	0.108	G
AGTR2	186	genome.wustl.edu	37	X	115303928	115303928	+	Frame_Shift_Del	DEL	T	T	-	rs387906503		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:115303928delT	ENST00000371906.4	+	3	585	c.395delT	c.(394-396)attfs	p.I132fs		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	132					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TTTGCAAGCATTTTTTTTATC	0.393																																						dbGAP											0										2,0,3717		0,0,2,0,0,0,1589,537	180.0	172.0	174.0			3.5	1.0	X		176	4,11,6467		0,0,4,0,4,7,2348,1763	no	codingComplex	AGTR2	NM_000686.4		0,0,6,0,4,7,3937,2300	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		0.2314,0.0538,0.1667			115303928	6,11,10184	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.395delT	X.37:g.115303928delT	ENSP00000360973:p.Ile132fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9V1|Q13016|Q6FGY7	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_ATII_AT2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt	p.F134fs	ENST00000371906.4	37	c.395	CCDS14569.1	X																																																																																			AGTR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Chemokine_rcpt	ENSG00000180772		0.393	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	HGNC	protein_coding	OTTHUMT00000057984.1	497	0.00	0	T	NM_000686		115303928	115303928	+1	no_errors	ENST00000371906	ensembl	human	known	69_37n	frame_shift_del	389	32.71	191	DEL	1.000	-
AHRR	57491	genome.wustl.edu	37	5	353994	353994	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:353994T>C	ENST00000505113.1	+	3	268	c.224T>C	c.(223-225)gTc>gCc	p.V75A	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000515206.1_Missense_Mutation_p.V71A|AHRR_ENST00000316418.5_Missense_Mutation_p.V75A	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	75	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CGCCTCAGTGTCAGTTACCTC	0.597																																						dbGAP											0													112.0	122.0	119.0					5																	353994		2125	4239	6364	-	-	-	SO:0001583	missense	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.224T>C	5.37:g.353994T>C	ENSP00000424601:p.Val75Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.V75A	ENST00000505113.1	37	c.224	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	t	22.1	4.238176	0.79800	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000510400;ENST00000515206;ENST00000504625	D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96	5.05	5.05	0.67936	Helix-loop-helix DNA-binding (4);	0.135165	0.49305	D	0.000157	D	0.98623	0.9539	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99081	1.0837	9	.	.	.	.	12.7179	0.57125	0.0:0.0:0.0:1.0	.	75;75	A9YTQ3;A9YTQ3-2	AHRR_HUMAN;.	A	75;75;71;71;71	ENSP00000424601:V75A;ENSP00000323816:V75A;ENSP00000428893:V71A;ENSP00000430842:V71A;ENSP00000429944:V71A	.	V	+	2	0	AHRR	406994	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	7.491000	0.81471	1.884000	0.54569	0.459000	0.35465	GTC	AHRR	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000063438		0.597	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	173	0.00	0	T	NM_020731		353994	353994	+1	no_errors	ENST00000316418	ensembl	human	known	69_37n	missense	125	36.87	73	SNP	1.000	C
PHYKPL	85007	genome.wustl.edu	37	5	177642316	177642316	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:177642316C>A	ENST00000308158.5	-	9	1277	c.1043G>T	c.(1042-1044)gGg>gTg	p.G348V	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	348						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TTTTTGCTGCCCGAGGAGCTG	0.592																																						dbGAP											0													46.0	40.0	42.0					5																	177642316		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1043G>T	5.37:g.177642316C>A	ENSP00000310978:p.Gly348Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	p.G348V	ENST00000308158.5	37	c.1043	CCDS4434.1	5	.	.	.	.	.	.	.	.	.	.	C	8.698	0.908939	0.17833	.	.	ENSG00000175309	ENST00000308158	D	0.85556	-2.0	5.3	-1.74	0.08056	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.681390	0.02424	N	0.082908	T	0.76169	0.3950	N	0.25380	0.74	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.61063	-0.7138	10	0.49607	T	0.09	-15.6622	5.8438	0.18652	0.0:0.2468:0.1589:0.5944	.	348;348	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	V	348	ENSP00000310978:G348V	ENSP00000310978:G348V	G	-	2	0	AGXT2L2	177574922	0.000000	0.05858	0.019000	0.16419	0.510000	0.34073	0.021000	0.13489	-0.227000	0.09884	0.561000	0.74099	GGG	AGXT2L2	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000175309		0.592	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2L2	HGNC	protein_coding	OTTHUMT00000253477.1	42	0.00	0	C	NM_032921		177642316	177642316	-1	no_errors	ENST00000308158	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	0.000	A
AKAP13	11214	genome.wustl.edu	37	15	86227941	86227941	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:86227941delA	ENST00000394518.2	+	16	5251				AKAP13_ENST00000394510.2_Intron|AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000560579.1_Intron	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTAGCCCTTTAAAAAAAATCA	0.363																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													28.0	28.0	28.0					15																	86227941		2196	4293	6489	-	-	-	SO:0001627	intron_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5157-31A>-	15.37:g.86227941delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	RNA	DEL	-	NULL	ENST00000394518.2	37	NULL	CCDS32319.1	15																																																																																			AKAP13	-	-	ENSG00000170776		0.363	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	94	0.00	0	A	NM_007200		86227941	86227941	+1	no_errors	ENST00000558092	ensembl	human	putative	69_37n	rna	66	36.45	39	DEL	0.013	-
AKAP14	158798	genome.wustl.edu	37	X	119037309	119037309	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:119037309A>G	ENST00000371431.3	+	3	397	c.123A>G	c.(121-123)ctA>ctG	p.L41L	AKAP14_ENST00000371425.4_Silent_p.L41L|AKAP14_ENST00000394594.2_Silent_p.L41L|AKAP14_ENST00000371423.2_Silent_p.L41L|AKAP14_ENST00000371422.1_Silent_p.L41L|AKAP14_ENST00000334356.2_Silent_p.L41L	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	41	RII-binding.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						AAGTAGCTCTAGCTCTGGTTG	0.393																																						dbGAP											0													203.0	147.0	166.0					X																	119037309		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.123A>G	X.37:g.119037309A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNZ0|Q86UN4|Q86UN5	Silent	SNP	NULL	p.L41	ENST00000371431.3	37	c.123	CCDS14591.1	X																																																																																			AKAP14	-	NULL	ENSG00000186471		0.393	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP14	HGNC	protein_coding	OTTHUMT00000058078.1	380	0.00	0	A	NM_178813		119037309	119037309	+1	no_errors	ENST00000371431	ensembl	human	known	69_37n	silent	220	44.72	178	SNP	0.000	G
AKR1C1	1645	genome.wustl.edu	37	10	5009171	5009171	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:5009171C>T	ENST00000380872.4	+	3	497	c.305C>T	c.(304-306)tCa>tTa	p.S102L	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.S102L|AKR1C1_ENST00000380859.1_Missense_Mutation_p.S104L	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	102					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TTGGAAAGGTCACTGAAAAAT	0.403																																					Colon(130;2054 2316 13360 15380)	dbGAP											0													119.0	111.0	114.0					10																	5009171		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.305C>T	10.37:g.5009171C>T	ENSP00000370254:p.Ser102Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.S102L	ENST00000380872.4	37	c.305	CCDS7061.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.935380|3.935380	0.73442|0.73442	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000442997|ENST00000434459;ENST00000380872;ENST00000380859	.|T;T;T	.|0.62639	.|0.01;0.01;0.01	2.95|2.95	2.95|2.95	0.34219|0.34219	.|NADP-dependent oxidoreductase domain (3);	.|0.119027	.|0.36703	.|N	.|0.002452	T|T	0.75428|0.75428	0.3848|0.3848	M|M	0.74546|0.74546	2.27|2.27	0.19775|0.19775	N|N	0.99996|0.99996	.|P;D	.|0.76494	.|0.867;0.999	.|P;D	.|0.70716	.|0.697;0.97	T|T	0.66023|0.66023	-0.6026|-0.6026	5|10	.|0.87932	.|D	.|0	.|.	11.6769|11.6769	0.51434|0.51434	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|102;102	.|B4E0M1;Q04828	.|.;AK1C1_HUMAN	Y|L	69|102;102;104	.|ENSP00000412248:S102L;ENSP00000370254:S102L;ENSP00000370240:S104L	.|ENSP00000370240:S104L	H|S	+|+	1|2	0|0	AKR1C1|AKR1C1	4999171|4999171	0.913000|0.913000	0.31002|0.31002	0.003000|0.003000	0.11579|0.11579	0.163000|0.163000	0.22366|0.22366	4.505000|4.505000	0.60421|0.60421	1.658000|1.658000	0.50742|0.50742	0.305000|0.305000	0.20034|0.20034	CAC|TCA	AKR1C1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000187134		0.403	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	423	0.24	1	C	NM_001353		5009171	5009171	+1	no_errors	ENST00000380872	ensembl	human	known	69_37n	missense	268	34.31	140	SNP	0.185	T
AKR1C1	1645	genome.wustl.edu	37	10	5009412	5009412	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:5009412C>T	ENST00000380872.4	+	3	561				AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Intron|AKR1C1_ENST00000380859.1_Intron	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	TCCATACTTCCGTGATTGCAT	0.373																																					Colon(130;2054 2316 13360 15380)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.369+177C>T	10.37:g.5009412C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P52896|Q5SR15|Q7M4N2|Q9UCX2	RNA	SNP	-	NULL	ENST00000380872.4	37	NULL	CCDS7061.1	10																																																																																			AKR1C1	-	-	ENSG00000187134		0.373	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C1	HGNC	protein_coding	OTTHUMT00000046523.2	47	0.00	0	C	NM_001353		5009412	5009412	+1	no_errors	ENST00000477661	ensembl	human	known	69_37n	rna	21	41.67	15	SNP	0.000	T
ALDH1A1	216	genome.wustl.edu	37	9	75542080	75542080	+	Frame_Shift_Del	DEL	A	A	-	rs139374917	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:75542080delA	ENST00000297785.3	-	5	510	c.456delT	c.(454-456)tttfs	p.F152fs	ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.F152fs|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	152					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTGTATATGTAAAAAAATTTC	0.299																																						dbGAP											0													51.0	56.0	54.0					9																	75542080		2201	4294	6495	-	-	-	SO:0001589	frameshift_variant	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.456delT	9.37:g.75542080delA	ENSP00000297785:p.Phe152fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00768|Q5SYR1	Frame_Shift_Del	DEL	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.F152fs	ENST00000297785.3	37	c.456	CCDS6644.1	9																																																																																			ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.299	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	135	0.00	0	A			75542080	75542080	-1	no_errors	ENST00000297785	ensembl	human	known	69_37n	frame_shift_del	109	24.83	36	DEL	0.782	-
ALDH3A1	218	genome.wustl.edu	37	17	19641648	19641649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:19641648_19641649insG	ENST00000457500.2	-	9	1663_1664	c.1334_1335insC	c.(1333-1335)ccgfs	p.P445fs	ALDH3A1_ENST00000395555.3_Frame_Shift_Ins_p.P381fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Ins_p.P445fs|ALDH3A1_ENST00000444455.1_Frame_Shift_Ins_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Frame_Shift_Ins_p.P372fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	445					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGGCCGGGCTCGGGGGGTATCT	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1335dupC	17.37:g.19641654_19641654dupG	ENSP00000411821:p.Pro445fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K828|Q9BT37	Frame_Shift_Ins	INS	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.S446fs	ENST00000457500.2	37	c.1335_1334	CCDS11212.1	17																																																																																			ALDH3A1	-	superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.624	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4	81	0.00	0	-	NM_000691		19641648	19641649	-1	no_errors	ENST00000225740	ensembl	human	known	69_37n	frame_shift_ins	41	30.51	18	INS	0.002:0.889	G
ALDOA	226	genome.wustl.edu	37	16	30080962	30080962	+	Missense_Mutation	SNP	C	C	T	rs201658390		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:30080962C>T	ENST00000566897.1	+	10	1919	c.767C>T	c.(766-768)gCg>gTg	p.A256V	ALDOA_ENST00000564546.1_Missense_Mutation_p.A256V|ALDOA_ENST00000569798.1_Missense_Mutation_p.A256V|ALDOA_ENST00000395248.1_Missense_Mutation_p.A310V|ALDOA_ENST00000412304.2_Missense_Mutation_p.A256V|ALDOA_ENST00000338110.5_Missense_Mutation_p.A256V|ALDOA_ENST00000569545.1_Missense_Mutation_p.A256V|ALDOA_ENST00000563060.2_Missense_Mutation_p.A256V|ALDOA_ENST00000564595.2_Missense_Mutation_p.A310V|ALDOA_ENST00000395240.3_Missense_Mutation_p.A260V			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	256					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						ACCGTCACAGCGCTGCGCCGC	0.567																																						dbGAP											0													68.0	61.0	63.0					16																	30080962		2197	4300	6497	-	-	-	SO:0001583	missense	0			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.767C>T	16.37:g.30080962C>T	ENSP00000455724:p.Ala256Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.A256V	ENST00000566897.1	37	c.767	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278318	0.80692	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.86627	-2.12;-2.12;-2.12;-2.15	5.91	5.91	0.95273	Aldolase-type TIM barrel (1);	0.047613	0.85682	N	0.000000	D	0.89962	0.6867	N	0.26092	0.79	0.80722	D	1	B;D;P	0.89917	0.379;1.0;0.585	B;D;B	0.79108	0.084;0.992;0.084	D	0.90661	0.4590	10	0.66056	D	0.02	.	19.0678	0.93119	0.0:1.0:0.0:0.0	.	115;138;256	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	V	310;256;256;256	ENSP00000378669:A310V;ENSP00000336927:A256V;ENSP00000400452:A256V;ENSP00000378661:A256V	ENSP00000336927:A256V	A	+	2	0	ALDOA	29988463	1.000000	0.71417	0.873000	0.34254	0.978000	0.69477	7.693000	0.84214	2.813000	0.96785	0.655000	0.94253	GCG	ALDOA	-	pfam_Aldolase_I	ENSG00000149925		0.567	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	134	0.00	0	C	NM_000034		30080962	30080962	+1	no_errors	ENST00000338110	ensembl	human	known	69_37n	missense	65	39.81	43	SNP	1.000	T
ALKBH8	91801	genome.wustl.edu	37	11	107393128	107393128	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:107393128G>A	ENST00000428149.2	-	10	1335	c.1184C>T	c.(1183-1185)cCg>cTg	p.P395L	ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000389568.3_Missense_Mutation_p.P395L|ALKBH8_ENST00000417449.2_Missense_Mutation_p.P398L	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	395					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CACAATGTGCGGCCAAGGGGT	0.453																																						dbGAP											0													180.0	139.0	151.0					11																	107393128		692	1591	2283	-	-	-	SO:0001583	missense	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1184C>T	11.37:g.107393128G>A	ENSP00000415885:p.Pro395Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.P398L	ENST00000428149.2	37	c.1193	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617614	0.66787	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.44083	0.93;0.93;0.93	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77096	0.4080	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.84328	0.0520	10	0.87932	D	0	-8.2551	18.7888	0.91965	0.0:0.0:1.0:0.0	.	395;398	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	L	395;395;398	ENSP00000415885:P395L;ENSP00000374219:P395L;ENSP00000397673:P398L	ENSP00000374219:P395L	P	-	2	0	ALKBH8	106898338	1.000000	0.71417	0.963000	0.40424	0.037000	0.13140	9.450000	0.97607	2.689000	0.91719	0.585000	0.79938	CCG	ALKBH8	-	pfam_Methyltransferase-rel	ENSG00000137760		0.453	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	416	0.00	0	G	NM_138775		107393128	107393128	-1	no_errors	ENST00000417449	ensembl	human	known	69_37n	missense	287	33.79	147	SNP	1.000	A
ALOX15B	247	genome.wustl.edu	37	17	7942706	7942706	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7942706G>T	ENST00000380183.4	+	2	289	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ALOX15B_ENST00000572022.1_Missense_Mutation_p.E50D|ALOX15B_ENST00000380173.2_Missense_Mutation_p.E50D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.E50D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	50	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.E50D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CCCCTCAGGAGGAGGACTTCC	0.692																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											27.0	27.0	27.0					17																	7942706		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.150G>T	17.37:g.7942706G>T	ENSP00000369530:p.Glu50Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.E50D	ENST00000380183.4	37	c.150	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718496	0.30503	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.66099	-0.19;-0.19	3.58	2.58	0.30949	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.670290	0.14327	N	0.326635	T	0.56441	0.1985	L	0.57536	1.79	0.29922	N	0.822638	B;B;B;B	0.20550	0.012;0.01;0.037;0.046	B;B;B;B	0.19148	0.014;0.008;0.014;0.024	T	0.57670	-0.7771	10	0.62326	D	0.03	-18.9338	9.6718	0.40017	0.1137:0.0:0.8862:0.0	.	50;50;50;50	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	D	50	ENSP00000369520:E50D;ENSP00000369530:E50D	ENSP00000344337:E50D	E	+	3	2	ALOX15B	7883431	0.571000	0.26659	1.000000	0.80357	0.886000	0.51366	1.373000	0.34272	0.755000	0.32990	0.591000	0.81541	GAG	ALOX15B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000179593		0.692	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	58	0.00	0	G			7942706	7942706	+1	no_errors	ENST00000380183	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	1.000	T
CARF	79800	genome.wustl.edu	37	2	203848327	203848327	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:203848327A>G	ENST00000402905.3	+	16	2479	c.2158A>G	c.(2158-2160)Aag>Gag	p.K720E	CARF_ENST00000414439.1_Missense_Mutation_p.K618E|CARF_ENST00000545253.1_Missense_Mutation_p.K632E|CARF_ENST00000438828.2_Missense_Mutation_p.K720E|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.K644E|CARF_ENST00000320443.8_Missense_Mutation_p.K720E|CARF_ENST00000428585.1_Missense_Mutation_p.K644E	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	720					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTGGACTATAAGAAATTATC	0.353																																						dbGAP											0													79.0	79.0	79.0					2																	203848327		1806	4069	5875	-	-	-	SO:0001583	missense	0			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.2158A>G	2.37:g.203848327A>G	ENSP00000384006:p.Lys720Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.K720E	ENST00000402905.3	37	c.2158	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	A	12.63	1.994871	0.35226	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.02	2.45	0.29901	.	0.305959	0.28026	N	0.016882	T	0.39226	0.1070	L	0.57536	1.79	0.21675	N	0.999598	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.004;0.004;0.004	T	0.38950	-0.9637	9	0.66056	D	0.02	-9.3338	5.5772	0.17231	0.6417:0.2625:0.0958:0.0	.	632;644;720	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	E	720;618;644;632;644;720;720	.	ENSP00000316224:K720E	K	+	1	0	ALS2CR8	203556572	1.000000	0.71417	0.982000	0.44146	0.740000	0.42216	2.311000	0.43717	0.864000	0.35578	0.528000	0.53228	AAG	ALS2CR8	-	NULL	ENSG00000138380		0.353	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CR8	HGNC	protein_coding	OTTHUMT00000335768.5	163	0.00	0	A	NM_001104586		203848327	203848327	+1	no_errors	ENST00000320443	ensembl	human	known	69_37n	missense	173	15.12	31	SNP	0.578	G
ALPP	250	genome.wustl.edu	37	2	233244618	233244618	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:233244618C>T	ENST00000392027.2	+	5	898	c.629C>T	c.(628-630)aCg>aTg	p.T210M	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	210					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.T210M(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACATCGCTACGCAGCTCATC	0.677																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											70.0	71.0	71.0					2																	233244618		2203	4299	6502	-	-	-	SO:0001583	missense	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.629C>T	2.37:g.233244618C>T	ENSP00000375881:p.Thr210Met	Somatic		WXS	Illumina GAIIx	Phase_IV	P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.T210M	ENST00000392027.2	37	c.629	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	6.201	0.405192	0.11754	.	.	ENSG00000163283	ENST00000392027	D	0.96830	-4.14	2.31	0.138	0.14793	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.049910	0.07399	N	0.890517	D	0.95984	0.8692	L	0.58510	1.815	0.09310	N	1	D	0.67145	0.996	P	0.59357	0.856	D	0.87768	0.2603	10	0.34782	T	0.22	.	3.6095	0.08055	0.4832:0.2837:0.0:0.2331	.	210	P05187	PPB1_HUMAN	M	210	ENSP00000375881:T210M	ENSP00000375881:T210M	T	+	2	0	ALPP	232952862	0.000000	0.05858	0.017000	0.16124	0.018000	0.09664	-1.487000	0.02310	-0.133000	0.11537	0.298000	0.19748	ACG	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.677	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	58	0.00	0	C	NM_001632		233244618	233244618	+1	no_errors	ENST00000392027	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.000	T
ALX4	60529	genome.wustl.edu	37	11	44289131	44289131	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:44289131C>T	ENST00000329255.3	-	3	922	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	273					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCCAAAACGCTCCCGCTTCC	0.597																																						dbGAP											0													178.0	146.0	157.0					11																	44289131		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.819G>A	11.37:g.44289131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JN7|Q9H198|Q9HAY9	Silent	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.E273	ENST00000329255.3	37	c.819	CCDS31468.1	11																																																																																			ALX4	-	superfamily_Homeodomain-like,smart_Homeodomain	ENSG00000052850		0.597	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1	264	0.38	1	C			44289131	44289131	-1	no_errors	ENST00000329255	ensembl	human	known	69_37n	silent	194	35.22	106	SNP	1.000	T
AMBRA1	55626	genome.wustl.edu	37	11	46568609	46568609	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:46568609delA	ENST00000458649.2	-	4	797				AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000528950.1_Intron|AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000426438.1_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		actccgtctcaaaaaaaaaaa	0.463																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.378+53T>-	11.37:g.46568609delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	RNA	DEL	-	NULL	ENST00000458649.2	37	NULL		11																																																																																			AMBRA1	-	-	ENSG00000110497		0.463	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	49	0.00	0	A	NM_017749		46568609	46568609	-1	no_errors	ENST00000524783	ensembl	human	known	69_37n	rna	38	39.06	25	DEL	0.881	-
AMOT	154796	genome.wustl.edu	37	X	112048215	112048215	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:112048215A>G	ENST00000524145.1	-	6	1810	c.1736T>C	c.(1735-1737)cTg>cCg	p.L579P	AMOT_ENST00000371958.1_Missense_Mutation_p.L347P|AMOT_ENST00000304758.1_Missense_Mutation_p.L170P|AMOT_ENST00000371962.1_Missense_Mutation_p.L347P|AMOT_ENST00000371959.3_Missense_Mutation_p.L579P			Q4VCS5	AMOT_HUMAN	angiomotin	579					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGCATTACTCAGGGCCTGATC	0.562																																						dbGAP											0													240.0	196.0	211.0					X																	112048215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1736T>C	X.37:g.112048215A>G	ENSP00000429013:p.Leu579Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.L579P	ENST00000524145.1	37	c.1736	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	a	25.4	4.639066	0.87760	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64778	-0.6327	10	0.87932	D	0	-11.7598	14.4321	0.67257	1.0:0.0:0.0:0.0	.	579	Q4VCS5	AMOT_HUMAN	P	170;579;347;579;347	ENSP00000305557:L170P;ENSP00000361027:L579P;ENSP00000361030:L347P;ENSP00000429013:L579P;ENSP00000361026:L347P	ENSP00000305557:L170P	L	-	2	0	AMOT	111934871	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	9.317000	0.96327	2.007000	0.58848	0.483000	0.47432	CTG	AMOT	-	NULL	ENSG00000126016		0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	385	0.00	0	A	NM_133265		112048215	112048215	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	277	39.65	182	SNP	0.949	G
ANAPC1	64682	genome.wustl.edu	37	2	112592360	112592360	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:112592360A>G	ENST00000341068.3	-	19	2977	c.2205T>C	c.(2203-2205)gcT>gcC	p.A735A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	735					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCATCTGTGAAGCTTCTGAAG	0.378																																						dbGAP											0													20.0	21.0	20.0					2																	112592360		2164	4240	6404	-	-	-	SO:0001819	synonymous_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2205T>C	2.37:g.112592360A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.F270L	ENST00000341068.3	37	c.808	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	A	6.808	0.518171	0.13005	.	.	ENSG00000153107	ENST00000427997	.	.	.	5.16	1.45	0.22620	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-0.258	1.4303	0.02332	0.5144:0.1346:0.2211:0.1299	.	.	.	.	L	270	.	.	F	-	1	0	ANAPC1	112308831	0.000000	0.05858	0.005000	0.12908	0.850000	0.48378	0.718000	0.25866	0.019000	0.15079	0.456000	0.33151	TTC	ANAPC1	-	NULL	ENSG00000153107		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	173	0.00	0	A	NM_022662		112592360	112592360	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427997	ensembl	human	novel	69_37n	missense	106	43.32	81	SNP	0.002	G
ANK2	287	genome.wustl.edu	37	4	114223960	114223960	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:114223960C>T	ENST00000357077.4	+	23	2566	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	ANK2_ENST00000509550.1_Missense_Mutation_p.T47M|ANK2_ENST00000264366.6_Missense_Mutation_p.T838M|ANK2_ENST00000394537.3_Missense_Mutation_p.T838M|ANK2_ENST00000506722.1_Missense_Mutation_p.T817M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	838					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTACCTGAGACGATGACTGAG	0.338																																						dbGAP											0													122.0	122.0	122.0					4																	114223960		2203	4300	6503	-	-	-	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2513C>T	4.37:g.114223960C>T	ENSP00000349588:p.Thr838Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	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.T838M	ENST00000357077.4	37	c.2513	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803221	0.90623	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.79141	-0.19;-0.14;-0.29;-0.2;-0.28;-0.34;-0.38;-1.24	4.87	4.87	0.63330	Ankyrin repeat-containing domain (1);	0.000000	0.48286	D	0.000181	D	0.89413	0.6708	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;D	0.91635	0.997;0.996;0.99;0.999;0.996;0.964	D	0.91280	0.5051	10	0.72032	D	0.01	.	18.0239	0.89263	0.0:1.0:0.0:0.0	.	47;838;838;838;817;817	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	M	817;784;817;853;838;838;838;817;47	ENSP00000423799:T817M;ENSP00000421011:T784M;ENSP00000421067:T817M;ENSP00000424722:T853M;ENSP00000378044:T838M;ENSP00000349588:T838M;ENSP00000264366:T838M;ENSP00000426944:T47M	ENSP00000264366:T838M	T	+	2	0	ANK2	114443409	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.818000	0.86416	2.240000	0.73641	0.563000	0.77884	ACG	ANK2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145362		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	294	0.00	0	C	NM_001148		114223960	114223960	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	missense	221	36.31	126	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	62038606	62038606	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:62038606C>T	ENST00000280772.2	-	4	531	c.340G>A	c.(340-342)Gca>Aca	p.A114T	ANK3_ENST00000373827.2_Missense_Mutation_p.A108T|ANK3_ENST00000503366.1_Missense_Mutation_p.A97T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	114					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCCAAAGATGCGATGTGCAAT	0.413																																						dbGAP											0													207.0	177.0	187.0					10																	62038606		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.340G>A	10.37:g.62038606C>T	ENSP00000280772:p.Ala114Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	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.A114T	ENST00000280772.2	37	c.340	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828014	0.90955	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.25	5.25	0.73442	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000798	D	0.93680	0.7981	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.996;0.983;0.826	D	0.94846	0.8009	10	0.87932	D	0	.	19.0309	0.92957	0.0:1.0:0.0:0.0	.	97;108;114	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	T	114;108;97;76;88	ENSP00000280772:A114T;ENSP00000362933:A108T;ENSP00000425236:A97T;ENSP00000426011:A88T	ENSP00000280772:A114T	A	-	1	0	ANK3	61708612	1.000000	0.71417	0.997000	0.53966	0.801000	0.45260	5.779000	0.68948	2.744000	0.94065	0.561000	0.74099	GCA	ANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	410	0.00	0	C	NM_020987		62038606	62038606	-1	no_errors	ENST00000280772	ensembl	human	known	69_37n	missense	291	35.96	164	SNP	1.000	T
ANKHD1	54882	genome.wustl.edu	37	5	139818109	139818109	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:139818109T>C	ENST00000360839.2	+	3	678	c.524T>C	c.(523-525)cTg>cCg	p.L175P	ANKHD1_ENST00000297183.6_Missense_Mutation_p.L175P|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L164P|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L175P|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L175P	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	175			L -> M (in dbSNP:rs17850570). {ECO:0000269|PubMed:15489334}.			cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGAGACTGACATCCTCA	0.473																																						dbGAP											0													209.0	187.0	195.0					5																	139818109		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.524T>C	5.37:g.139818109T>C	ENSP00000354085:p.Leu175Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.L175P	ENST00000360839.2	37	c.524	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524842	0.64747	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.80214	-0.53;-0.57;-0.52;-0.33;-0.69;-1.35;-0.57	5.43	5.43	0.79202	.	0.196948	0.33364	N	0.004993	D	0.84696	0.5529	L	0.34521	1.04	0.80722	D	1	P;D;D;P;D	0.71674	0.917;0.998;0.998;0.917;0.987	P;D;D;P;D	0.81914	0.622;0.995;0.995;0.805;0.921	D	0.86708	0.1934	10	0.87932	D	0	.	15.4961	0.75653	0.0:0.0:0.0:1.0	.	175;175;175;164;175	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	P	175;189;175;175;175;175;161;164;175	ENSP00000354085:L175P;ENSP00000297183:L175P;ENSP00000394489:L175P;ENSP00000378212:L175P;ENSP00000421069:L161P;ENSP00000378211:L164P;ENSP00000432016:L175P	ENSP00000432016:L175P	L	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139798293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.895000	0.87343	2.062000	0.61559	0.528000	0.53228	CTG	ANKHD1	-	NULL	ENSG00000131503		0.473	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	264	0.00	0	T	NM_017747		139818109	139818109	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	missense	204	36.45	117	SNP	1.000	C
ANKMY1	51281	genome.wustl.edu	37	2	241496666	241496666	+	5'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:241496666G>A	ENST00000391987.1	-	0	186				ANKMY1_ENST00000536462.1_Intron|DUSP28_ENST00000343217.2_5'Flank|ANKMY1_ENST00000405523.3_Silent_p.G29G|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000406958.1_Silent_p.G29G|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000361678.4_Silent_p.G29G|ANKMY1_ENST00000403283.1_Silent_p.G108G|ANKMY1_ENST00000373318.2_Silent_p.G29G|ANKMY1_ENST00000401804.1_Silent_p.G29G	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CAGGGGTCTCGCCGCCCTTCC	0.672																																						dbGAP											0													43.0	47.0	46.0					2																	241496666		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000391987.1:c.-181C>T	2.37:g.241496666G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.G29	ENST00000391987.1	37	c.87	CCDS2536.1	2																																																																																			ANKMY1	-	NULL	ENSG00000144504		0.672	ANKMY1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding		19	0.00	0	G	NM_017844		241496666	241496666	-1	no_errors	ENST00000361678	ensembl	human	known	69_37n	silent	13	46.15	12	SNP	0.000	A
ANKRD11	29123	genome.wustl.edu	37	16	89347283	89347283	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:89347283T>C	ENST00000301030.4	-	9	6127	c.5667A>G	c.(5665-5667)aaA>aaG	p.K1889K	ANKRD11_ENST00000378330.2_Silent_p.K1889K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1889	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGGGGAAGGTTTTGCTTGTA	0.652																																						dbGAP											0													49.0	55.0	53.0					16																	89347283		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5667A>G	16.37:g.89347283T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K1889	ENST00000301030.4	37	c.5667	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.652	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	63	0.00	0	T	NM_013275		89347283	89347283	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	silent	35	42.65	29	SNP	0.993	C
ANKRD11	29123	genome.wustl.edu	37	16	89348127	89348127	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:89348127A>G	ENST00000301030.4	-	9	5283	c.4823T>C	c.(4822-4824)aTg>aCg	p.M1608T	ANKRD11_ENST00000378330.2_Missense_Mutation_p.M1608T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1608	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCTTCTCCATTTGCTTCAT	0.592																																						dbGAP											0													92.0	91.0	91.0					16																	89348127		2198	4300	6498	-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4823T>C	16.37:g.89348127A>G	ENSP00000301030:p.Met1608Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1608T	ENST00000301030.4	37	c.4823	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	A	11.82	1.752206	0.31046	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39229	1.09;1.09	5.08	5.08	0.68730	.	0.049981	0.85682	D	0.000000	T	0.31040	0.0784	L	0.32530	0.975	0.80722	D	1	P	0.48764	0.915	B	0.36922	0.236	T	0.13791	-1.0496	10	0.46703	T	0.11	.	14.4971	0.67698	1.0:0.0:0.0:0.0	.	1608	Q6UB99	ANR11_HUMAN	T	1608	ENSP00000301030:M1608T;ENSP00000367581:M1608T	ENSP00000301030:M1608T	M	-	2	0	ANKRD11	87875628	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	6.744000	0.74854	1.906000	0.55180	0.379000	0.24179	ATG	ANKRD11	-	NULL	ENSG00000167522		0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	136	0.00	0	A	NM_013275		89348127	89348127	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	64	48.80	61	SNP	1.000	G
ANKRD12	23253	genome.wustl.edu	37	18	9256207	9256207	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:9256207delA	ENST00000262126.4	+	9	3182	c.2942delA	c.(2941-2943)gaafs	p.E981fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.E958fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.E958fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	981						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATACAGGAAGAAAAAAAATCA	0.299																																						dbGAP											0													35.0	41.0	39.0					18																	9256207		2166	4248	6414	-	-	-	SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2942delA	18.37:g.9256207delA	ENSP00000262126:p.Glu981fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K983fs	ENST00000262126.4	37	c.2942	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	41	0.00	0	A	NM_015208		9256207	9256207	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	frame_shift_del	18	45.45	15	DEL	1.000	-
ANKRD30A	91074	genome.wustl.edu	37	10	37466667	37466667	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:37466667T>A	ENST00000602533.1	+	19	2069	c.1970T>A	c.(1969-1971)aTa>aAa	p.I657K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I776K|ANKRD30A_ENST00000361713.1_Intron			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	713					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATAGATAAAATAAATGGAAAA	0.313																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1970T>A	10.37:g.37466667T>A	ENSP00000473551:p.Ile657Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I776K	ENST00000602533.1	37	c.2327		10	.	.	.	.	.	.	.	.	.	.	.	4.811	0.150865	0.09185	.	.	ENSG00000148513	ENST00000374660	T	0.06068	3.35	0.906	-0.858	0.10689	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42498	-0.9448	6	0.35671	T	0.21	.	3.5442	0.07823	0.0:0.0:0.4192:0.5808	.	.	.	.	K	776	ENSP00000363792:I776K	ENSP00000363792:I776K	I	+	2	0	ANKRD30A	37506673	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	0.008000	0.13197	-0.225000	0.09913	0.138000	0.15974	ATA	ANKRD30A	-	NULL	ENSG00000148513		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	34	0.00	0	T	NM_052997		37466667	37466667	+1	no_errors	ENST00000374660	ensembl	human	putative	69_37n	missense	21	32.26	10	SNP	0.001	A
ANKRD2	26287	genome.wustl.edu	37	10	99343450	99343450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:99343450C>T	ENST00000307518.5	+	9	1318	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.R324*|HOGA1_ENST00000370646.4_5'Flank|HOGA1_ENST00000370647.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000455090.1_Nonsense_Mutation_p.R291*|ANKRD2_ENST00000298808.5_Nonsense_Mutation_p.R318*|PI4K2A_ENST00000555577.1_5'Flank			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	351					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TGATAGTGGGCGAGAGACCCC	0.662																																						dbGAP											0													33.0	28.0	30.0					10																	99343450		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.1051C>T	10.37:g.99343450C>T	ENSP00000306163:p.Arg351*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R351*	ENST00000307518.5	37	c.1051	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379242	0.82682	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	.	.	.	5.27	2.19	0.27852	.	0.859514	0.09985	N	0.730486	.	.	.	.	.	.	0.27046	N	0.963898	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-2.6196	4.7011	0.12827	0.1357:0.5623:0.2153:0.0867	.	.	.	.	X	351;318;324;291	.	ENSP00000298808:R318X	R	+	1	2	ANKRD2	99333440	0.000000	0.05858	0.003000	0.11579	0.252000	0.25951	0.579000	0.23788	0.715000	0.32103	0.561000	0.74099	CGA	ANKRD2	-	NULL	ENSG00000165887		0.662	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		27	0.00	0	C			99343450	99343450	+1	no_errors	ENST00000307518	ensembl	human	known	69_37n	nonsense	19	36.67	11	SNP	0.000	T
ANKRD36B	57730	genome.wustl.edu	37	2	98197016	98197016	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:98197016G>A	ENST00000443455.1	-	0	644							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GCAAGTAACAGTGGCTGATAT	0.313																																						dbGAP											0													153.0	117.0	128.0					2																	98197016		692	1591	2283	-	-	-			0			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98197016G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	SNP	-	NULL	ENST00000443455.1	37	NULL		2																																																																																			ANKRD36B	-	-	ENSG00000196912		0.313	ANKRD36B-003	KNOWN	basic	processed_transcript	ANKRD36B	HGNC	pseudogene	OTTHUMT00000328967.2	501	0.00	0	G	NM_025190		98197016	98197016	-1	no_errors	ENST00000443455	ensembl	human	known	69_37n	rna	362	36.14	206	SNP	0.046	A
ANO10	55129	genome.wustl.edu	37	3	43408450	43408450	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:43408450G>A	ENST00000292246.3	-	13	2101	c.1931C>T	c.(1930-1932)aCc>aTc	p.T644I	ANO10_ENST00000451430.2_Missense_Mutation_p.T533I|ANO10_ENST00000396091.3_Missense_Mutation_p.T578I|ANO10_ENST00000350459.4_Missense_Mutation_p.T454I|ANO10_ENST00000414522.2_3'UTR	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	644					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CAGGTTCTCGGTCACGAGCTT	0.577																																						dbGAP											0													127.0	84.0	99.0					3																	43408450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.1931C>T	3.37:g.43408450G>A	ENSP00000292246:p.Thr644Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.T644I	ENST00000292246.3	37	c.1931	CCDS2710.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.045|5.045	0.194025|0.194025	0.09599|0.09599	.|.	.|.	ENSG00000160746|ENSG00000160746	ENST00000448045|ENST00000292246;ENST00000350459;ENST00000396091;ENST00000451430	.|T;T;T;T	.|0.70516	.|0.26;-0.49;0.26;0.09	3.54|3.54	2.66|2.66	0.31614|0.31614	.|.	.|1.976770	.|0.02848	.|U	.|0.128701	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999986|0.999986	.|B;B;B;B	.|0.06786	.|0.0;0.0;0.001;0.001	.|B;B;B;B	.|0.10450	.|0.0;0.0;0.005;0.001	T|T	0.45160|0.45160	-0.9280|-0.9280	5|10	.|0.42905	.|T	.|0.14	.|.	7.2252|7.2252	0.26012|0.26012	0.123:0.0:0.877:0.0|0.123:0.0:0.877:0.0	.|.	.|533;454;578;644	.|Q9NW15-4;Q9NW15-2;Q9NW15-3;Q9NW15	.|.;.;.;ANO10_HUMAN	S|I	172|644;454;578;533	.|ENSP00000292246:T644I;ENSP00000327767:T454I;ENSP00000379398:T578I;ENSP00000394119:T533I	.|ENSP00000292246:T644I	P|T	-|-	1|2	0|0	ANO10|ANO10	43383454|43383454	0.133000|0.133000	0.22466|0.22466	0.507000|0.507000	0.27676|0.27676	0.039000|0.039000	0.13416|0.13416	2.217000|2.217000	0.42880|0.42880	1.042000|1.042000	0.40150|0.40150	0.655000|0.655000	0.94253|0.94253	CCG|ACC	ANO10	-	NULL	ENSG00000160746		0.577	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	305	0.00	0	G	NM_018075		43408450	43408450	-1	no_errors	ENST00000292246	ensembl	human	known	69_37n	missense	55	68.39	119	SNP	0.555	A
ANO9	338440	genome.wustl.edu	37	11	418575	418575	+	Silent	SNP	G	G	A	rs569363672		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:418575G>A	ENST00000332826.6	-	23	2229	c.2145C>T	c.(2143-2145)tgC>tgT	p.C715C	SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	715					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAGCTTGATGCACAAGGCCA	0.622																																						dbGAP											0													78.0	70.0	73.0					11																	418575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2145C>T	11.37:g.418575G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.C715	ENST00000332826.6	37	c.2145	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin	ENSG00000185101		0.622	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	69	0.00	0	G	NM_001012302		418575	418575	-1	no_errors	ENST00000332826	ensembl	human	known	69_37n	silent	48	39.24	31	SNP	0.991	A
ANXA13	312	genome.wustl.edu	37	8	124710747	124710747	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:124710747G>A	ENST00000419625.1	-	4	311	c.239C>T	c.(238-240)gCg>gTg	p.A80V	ANXA13_ENST00000262219.6_Missense_Mutation_p.A121V	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	80					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGGCCAACGCTGTCTTCTC	0.587																																						dbGAP											0													129.0	121.0	124.0					8																	124710747		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.239C>T	8.37:g.124710747G>A	ENSP00000390809:p.Ala80Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQR5	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.A121V	ENST00000419625.1	37	c.362	CCDS47917.1	8	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575786	0.45902	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.02837	4.14;4.14;4.14	5.67	5.67	0.87782	Annexin repeat, conserved site (1);	0.194104	0.56097	D	0.000037	T	0.01558	0.0050	N	0.02192	-0.645	0.39408	D	0.966704	B;P	0.51351	0.443;0.944	B;B	0.36378	0.167;0.223	T	0.72697	-0.4215	10	0.25106	T	0.35	.	18.5538	0.91075	0.0:0.0:1.0:0.0	.	80;121	P27216;P27216-2	ANX13_HUMAN;.	V	121;80;51	ENSP00000262219:A121V;ENSP00000390809:A80V;ENSP00000429358:A51V	ENSP00000262219:A121V	A	-	2	0	ANXA13	124779928	1.000000	0.71417	0.981000	0.43875	0.966000	0.64601	4.069000	0.57541	2.677000	0.91161	0.561000	0.74099	GCG	ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin	ENSG00000104537		0.587	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	132	0.00	0	G	NM_004306		124710747	124710747	-1	no_errors	ENST00000262219	ensembl	human	known	69_37n	missense	87	36.96	51	SNP	0.989	A
AP3B1	8546	genome.wustl.edu	37	5	77334907	77334907	+	Frame_Shift_Del	DEL	T	T	-	rs201179527	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:77334907delT	ENST00000255194.6	-	23	2944	c.2769delA	c.(2767-2769)aaafs	p.K923fs	AP3B1_ENST00000519295.1_Frame_Shift_Del_p.K874fs|AP3B1_ENST00000523204.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	923					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.K923fs*4(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTATAGGAAGTTTTTTTTCCC	0.289									Hermansky-Pudlak syndrome																													dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											103.0	98.0	100.0					5																	77334907		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2769delA	5.37:g.77334907delT	ENSP00000255194:p.Lys923fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	p.K923fs	ENST00000255194.6	37	c.2769	CCDS4041.1	5																																																																																			AP3B1	-	pirsf_AP3_complex_bsu	ENSG00000132842		0.289	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	431	0.23	1	T			77334907	77334907	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	frame_shift_del	303	33.19	155	DEL	0.419	-
APBA2	321	genome.wustl.edu	37	15	29406115	29406115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:29406115delG	ENST00000558402.1	+	15	2673	c.2074delG	c.(2074-2076)gggfs	p.G693fs	APBA2_ENST00000558259.1_Frame_Shift_Del_p.G693fs|APBA2_ENST00000411764.1_Frame_Shift_Del_p.G681fs|APBA2_ENST00000561069.1_Frame_Shift_Del_p.G693fs|APBA2_ENST00000558330.1_Frame_Shift_Del_p.G681fs			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	693	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGCTGAGCGAGGGGGCGTCCG	0.632																																						dbGAP											0													89.0	76.0	80.0					15																	29406115		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2074delG	15.37:g.29406115delG	ENSP00000453293:p.Gly693fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGI4|O60571|Q5XKC0	Frame_Shift_Del	DEL	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.G693fs	ENST00000558402.1	37	c.2074	CCDS10022.1	15																																																																																			APBA2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000034053		0.632	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	84	0.00	0	G	NM_005503		29406115	29406115	+1	no_errors	ENST00000558259	ensembl	human	known	69_37n	frame_shift_del	40	35.48	22	DEL	1.000	-
APC	324	genome.wustl.edu	37	5	112176648	112176648	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:112176648G>T	ENST00000457016.1	+	16	5737	c.5357G>T	c.(5356-5358)aGg>aTg	p.R1786M	APC_ENST00000508376.2_Missense_Mutation_p.R1786M|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R1786M			P25054	APC_HUMAN	adenomatous polyposis coli	1786	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ACTGAATATAGGACACGTGTA	0.323		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	dbGAP	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)											38.0	39.0	39.0					5																	112176648		2202	4296	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5357G>T	5.37:g.112176648G>T	ENSP00000413133:p.Arg1786Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1786M	ENST00000457016.1	37	c.5357	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964155	0.53507	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89746	-2.56;-2.56;-2.56	6.07	5.2	0.72013	.	0.113919	0.64402	D	0.000008	D	0.86234	0.5884	L	0.27053	0.805	0.47183	D	0.999344	P;D	0.63046	0.924;0.992	P;P	0.52710	0.514;0.707	D	0.84778	0.0771	9	.	.	.	-12.8562	11.2991	0.49295	0.1386:0.0:0.8614:0.0	.	1788;1786	Q4LE70;P25054	.;APC_HUMAN	M	1786	ENSP00000413133:R1786M;ENSP00000257430:R1786M;ENSP00000427089:R1786M	.	R	+	2	0	APC	112204547	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	5.846000	0.69444	1.572000	0.49736	0.650000	0.86243	AGG	APC	-	NULL	ENSG00000134982		0.323	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	97	0.00	0	G	NM_000038		112176648	112176648	+1	no_errors	ENST00000257430	ensembl	human	known	69_37n	missense	40	48.72	38	SNP	1.000	T
APC2	10297	genome.wustl.edu	37	19	1456366	1456366	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:1456366A>G	ENST00000535453.1	+	7	2492	c.779A>G	c.(778-780)cAc>cGc	p.H260R	APC2_ENST00000238483.4_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.H260R			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCCCACACACCCTGAGGAT	0.677																																						dbGAP											0													31.0	31.0	31.0					19																	1456366		2191	4294	6485	-	-	-	SO:0001583	missense	0				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.779A>G	19.37:g.1456366A>G	ENSP00000442954:p.His260Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.H260R	ENST00000535453.1	37	c.779	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276994	0.59758	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	D;D	0.92397	-3.03;-3.03	4.66	4.66	0.58398	.	0.435365	0.21019	N	0.081543	D	0.92443	0.7601	L	0.36672	1.1	0.80722	D	1	P;D	0.57899	0.642;0.981	B;D	0.67231	0.165;0.95	D	0.90873	0.4747	10	0.36615	T	0.2	-38.7902	10.4777	0.44674	1.0:0.0:0.0:0.0	.	259;260	O95996-3;O95996	.;APC2_HUMAN	R	260	ENSP00000233607:H260R;ENSP00000442954:H260R	ENSP00000233607:H260R	H	+	2	0	APC2	1407366	0.868000	0.29978	1.000000	0.80357	0.948000	0.59901	2.043000	0.41231	1.734000	0.51633	0.374000	0.22700	CAC	APC2	-	NULL	ENSG00000115266		0.677	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	25	0.00	0	A	NM_005883		1456366	1456366	+1	no_errors	ENST00000233607	ensembl	human	known	69_37n	missense	18	32.14	9	SNP	0.998	G
API5	8539	genome.wustl.edu	37	11	43342374	43342374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:43342374C>T	ENST00000531273.1	+	3	374	c.235C>T	c.(235-237)Cga>Tga	p.R79*	API5_ENST00000420461.2_Nonsense_Mutation_p.R25*|API5_ENST00000455725.2_Nonsense_Mutation_p.R68*|API5_ENST00000534695.1_Intron|API5_ENST00000534600.1_Nonsense_Mutation_p.R79*|API5_ENST00000378852.3_Nonsense_Mutation_p.R79*			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	79	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGCCCAGATTCGACGTCAAGC	0.333																																					Pancreas(1;98 122 5625 20895 49453)	dbGAP											0													95.0	100.0	98.0					11																	43342374		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.235C>T	11.37:g.43342374C>T	ENSP00000431391:p.Arg79*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Nonsense_Mutation	SNP	pfam_API5,superfamily_ARM-type_fold	p.R79*	ENST00000531273.1	37	c.235	CCDS44572.1	11	.	.	.	.	.	.	.	.	.	.	C	38	7.021399	0.98010	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	.	.	.	6.13	4.1	0.47936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.2155	12.9641	0.58473	0.1224:0.8114:0.0:0.0662	.	.	.	.	X	68;79;25;79;79	.	ENSP00000368129:R79X	R	+	1	2	API5	43298950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.797000	0.62503	1.623000	0.50342	0.650000	0.86243	CGA	API5	-	pfam_API5,superfamily_ARM-type_fold	ENSG00000166181		0.333	API5-002	KNOWN	basic|CCDS	protein_coding	API5	HGNC	protein_coding	OTTHUMT00000389545.1	323	0.00	0	C	NM_006595		43342374	43342374	+1	no_errors	ENST00000531273	ensembl	human	known	69_37n	nonsense	173	40.82	120	SNP	1.000	T
APOA1	335	genome.wustl.edu	37	11	116707832	116707832	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:116707832delG	ENST00000236850.4	-	3	450	c.85delC	c.(85-87)cagfs	p.Q29fs	APOA1_ENST00000375323.1_Frame_Shift_Del_p.Q29fs|APOA1_ENST00000359492.2_Frame_Shift_Del_p.Q29fs|APOA1_ENST00000375329.2_Intron|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375320.1_Frame_Shift_Del_p.Q29fs	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	29					adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGGGGCTCTGGGGGGGTTCA	0.602																																						dbGAP											0			GRCh37	CD961783	APOA1	D							61.0	68.0	65.0					11																	116707832		2201	4296	6497	-	-	-	SO:0001589	frameshift_variant	0			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.85delC	11.37:g.116707832delG	ENSP00000236850:p.Gln29fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Frame_Shift_Del	DEL	pfam_ApoA1_A4_E	p.Q29fs	ENST00000236850.4	37	c.85	CCDS8378.1	11																																																																																			APOA1	-	NULL	ENSG00000118137		0.602	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2	103	0.00	0	G	NM_000039		116707832	116707832	-1	no_errors	ENST00000236850	ensembl	human	known	69_37n	frame_shift_del	61	36.63	37	DEL	0.896	-
ARFGAP2	84364	genome.wustl.edu	37	11	47186970	47186970	+	3'UTR	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:47186970A>G	ENST00000524782.1	-	0	1857				ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_3'UTR|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000426335.2_3'UTR|ARFGAP2_ENST00000319543.6_3'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGCATCCCCAGCCTGGGAAC	0.577																																						dbGAP											0													74.0	68.0	70.0					11																	47186970		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.*63T>C	11.37:g.47186970A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	RNA	SNP	-	NULL	ENST00000524782.1	37	NULL	CCDS7926.1	11																																																																																			ARFGAP2	-	-	ENSG00000149182		0.577	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	HGNC	protein_coding	OTTHUMT00000391425.1	194	0.00	0	A	NM_032389		47186970	47186970	-1	no_errors	ENST00000395449	ensembl	human	known	69_37n	rna	121	36.98	71	SNP	0.000	G
ARAP1	116985	genome.wustl.edu	37	11	72422518	72422518	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:72422518A>G	ENST00000393609.3	-	8	1251	c.1049T>C	c.(1048-1050)gTg>gCg	p.V350A	ARAP1_ENST00000455638.2_Missense_Mutation_p.V350A|ARAP1_ENST00000359373.5_Missense_Mutation_p.V350A|ARAP1_ENST00000426523.1_Missense_Mutation_p.V105A|ARAP1_ENST00000334211.8_Missense_Mutation_p.V105A|ARAP1_ENST00000393605.3_Missense_Mutation_p.V110A|ARAP1_ENST00000429686.1_Missense_Mutation_p.V105A	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	350	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATCCAGTCTCACCCATCGTTT	0.562																																					Ovarian(102;1198 1520 13195 17913 37529)	dbGAP											0													136.0	114.0	121.0					11																	72422518		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1049T>C	11.37:g.72422518A>G	ENSP00000377233:p.Val350Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.V350A	ENST00000393609.3	37	c.1049	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	A	29.0	4.971207	0.92919	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.11	5.11	0.69529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000005	T	0.35451	0.0932	M	0.66378	2.025	0.45762	D	0.998651	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.998;0.99;0.98;1.0	T	0.09729	-1.0661	10	0.72032	D	0.01	.	13.7452	0.62870	1.0:0.0:0.0:0.0	.	105;105;350;350;110	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	A	350;350;110;105;350;105;105;139	ENSP00000352332:V350A;ENSP00000390461:V350A;ENSP00000377230:V110A;ENSP00000335506:V105A;ENSP00000377233:V350A;ENSP00000392264:V105A;ENSP00000403127:V105A	ENSP00000335506:V105A	V	-	2	0	ARAP1	72100166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.282000	0.95840	1.929000	0.55896	0.533000	0.62120	GTG	ARAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000186635		0.562	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	167	0.00	0	A	NM_001040118		72422518	72422518	-1	no_errors	ENST00000393609	ensembl	human	known	69_37n	missense	108	38.07	67	SNP	1.000	G
ARFGAP3	26286	genome.wustl.edu	37	22	43213780	43213780	+	Frame_Shift_Del	DEL	T	T	-	rs552164906		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:43213780delT	ENST00000263245.5	-	10	1115	c.896delA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGAGTCAACATTTTTTTTGCC	0.363																																					GBM(58;544 1030 21460 27159 48838)	dbGAP											0													317.0	285.0	296.0					22																	43213780		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.896delA	22.37:g.43213780delT	ENSP00000263245:p.Asn299fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,prints_ArfGAP,pfscan_ArfGAP	p.N299fs	ENST00000263245.5	37	c.896	CCDS14042.1	22																																																																																			ARFGAP3	-	NULL	ENSG00000242247		0.363	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP3	HGNC	protein_coding	OTTHUMT00000319747.2	865	0.35	3	T	NM_014570		43213780	43213780	-1	no_errors	ENST00000263245	ensembl	human	known	69_37n	frame_shift_del	545	37.63	336	DEL	0.002	-
ARFGEF1	10565	genome.wustl.edu	37	8	68137173	68137173	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:68137173A>G	ENST00000262215.3	-	29	4562	c.4173T>C	c.(4171-4173)tgT>tgC	p.C1391C	ARFGEF1_ENST00000520381.1_Silent_p.C845C|ARFGEF1_ENST00000518230.1_Silent_p.C229C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1391					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGATGATACAGGATAACT	0.343																																						dbGAP											0													118.0	106.0	110.0					8																	68137173		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4173T>C	8.37:g.68137173A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.C1391	ENST00000262215.3	37	c.4173	CCDS6199.1	8																																																																																			ARFGEF1	-	superfamily_ARM-type_fold	ENSG00000066777		0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	225	0.00	0	A	NM_006421		68137173	68137173	-1	no_errors	ENST00000262215	ensembl	human	known	69_37n	silent	158	37.30	94	SNP	1.000	G
ARHGAP24	83478	genome.wustl.edu	37	4	86852113	86852113	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:86852113C>T	ENST00000395184.1	+	4	857				ARHGAP24_ENST00000503995.1_Intron|ARHGAP24_ENST00000264343.4_Silent_p.C10C|ARHGAP24_ENST00000395183.2_Intron	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CTGGGGGGTGCCCGGCTGGTG	0.478																																						dbGAP											0													79.0	86.0	84.0					4																	86852113		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.391+7190C>T	4.37:g.86852113C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.C10	ENST00000395184.1	37	c.30	CCDS34025.1	4																																																																																			ARHGAP24	-	NULL	ENSG00000138639		0.478	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	125	0.00	0	C	NM_031305		86852113	86852113	+1	no_errors	ENST00000264343	ensembl	human	known	69_37n	silent	112	40.43	76	SNP	0.933	T
ARHGAP26	23092	genome.wustl.edu	37	5	142593593	142593593	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:142593593G>A	ENST00000274498.4	+	22	2674	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.A711T|ARHGAP26_ENST00000486650.1_3'UTR	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	766	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTTGTATGCCTGCAAAGC	0.468																																						dbGAP											0													56.0	44.0	48.0					5																	142593593		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.2296G>A	5.37:g.142593593G>A	ENSP00000274498:p.Ala766Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A766T	ENST00000274498.4	37	c.2296	CCDS4277.1	5	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	35|35|35	5.419492|5.419492|5.419492	0.96111|0.96111|0.96111	.|.|.	.|.|.	ENSG00000145819|ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004|ENST00000421521|ENST00000443674;ENST00000418236;ENST00000425417	T;T|.|.	0.50001|.|.	0.76;0.76|.|.	5.37|5.37|5.37	5.37|5.37|5.37	0.77165|0.77165|0.77165	Src homology-3 domain (4);|.|.	0.118775|.|.	0.56097|.|.	D|.|.	0.000028|.|.	T|T|T	0.68100|0.68100|0.68100	0.2964|0.2964|0.2964	L|L|L	0.43757|0.43757|0.43757	1.38|1.38|1.38	0.51767|0.51767|0.51767	D|D|D	0.999937|0.999937|0.999937	D;D|.|.	0.69078|.|.	0.997;0.996|.|.	D;D|.|.	0.80764|.|.	0.994;0.981|.|.	T|T|T	0.64024|0.64024|0.64024	-0.6504|-0.6504|-0.6504	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	.|.|.	19.113|19.113|19.113	0.93326|0.93326|0.93326	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	766;711|.|.	Q9UNA1;Q9UNA1-2|.|.	RHG26_HUMAN;.|.|.	T|Y|I	766;711|103|339;245;47	ENSP00000274498:A766T;ENSP00000367243:A711T|.|.	ENSP00000274498:A766T|.|.	A|C|M	+|+|+	1|2|3	0|0|0	ARHGAP26|ARHGAP26|ARHGAP26	142573786|142573786|142573786	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	9.170000|9.170000|9.170000	0.94795|0.94795|0.94795	2.494000|2.494000|2.494000	0.84150|0.84150|0.84150	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCC|TGC|ATG	ARHGAP26	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000145819		0.468	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	94	0.00	0	G	NM_015071		142593593	142593593	+1	no_errors	ENST00000274498	ensembl	human	known	69_37n	missense	62	39.22	40	SNP	1.000	A
ARHGAP29	9411	genome.wustl.edu	37	1	94649793	94649793	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:94649793C>G	ENST00000260526.6	-	19	2343	c.2161G>C	c.(2161-2163)Gct>Cct	p.A721P	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	721	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTCCAAAGCTTGACACAAT	0.294																																						dbGAP											0													114.0	116.0	115.0					1																	94649793		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2161G>C	1.37:g.94649793C>G	ENSP00000260526:p.Ala721Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A721P	ENST00000260526.6	37	c.2161	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375071	0.82682	.	.	ENSG00000137962	ENST00000260526	T	0.21932	1.98	5.82	4.83	0.62350	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.217807	0.23330	N	0.049356	T	0.57140	0.2033	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.925;0.999	T	0.71978	-0.4429	10	0.72032	D	0.01	-13.4689	17.629	0.88102	0.1316:0.8684:0.0:0.0	.	721;721	F8VWZ8;Q52LW3	.;RHG29_HUMAN	P	721	ENSP00000260526:A721P	ENSP00000260526:A721P	A	-	1	0	ARHGAP29	94422381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.447000	0.66606	2.736000	0.93811	0.650000	0.86243	GCT	ARHGAP29	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000137962		0.294	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	222	0.00	0	C	NM_004815		94649793	94649793	-1	no_errors	ENST00000260526	ensembl	human	known	69_37n	missense	181	34.66	96	SNP	1.000	G
ARHGAP35	2909	genome.wustl.edu	37	19	47422332	47422332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:47422332delT	ENST00000404338.3	+	1	400	c.400delT	c.(400-402)tttfs	p.F134fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	134					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										ACTCATGTACTTTTGCACTGA	0.483																																						dbGAP											0													64.0	61.0	62.0					19																	47422332		1928	4131	6059	-	-	-	SO:0001589	frameshift_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.400delT	19.37:g.47422332delT	ENSP00000385720:p.Phe134fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.C135fs	ENST00000404338.3	37	c.400	CCDS46127.1	19																																																																																			ARHGAP35	-	NULL	ENSG00000160007		0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	157	0.00	0	T	NM_004491		47422332	47422332	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	frame_shift_del	116	33.52	61	DEL	1.000	-
ARHGAP35	2909	genome.wustl.edu	37	19	47423374	47423374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:47423374delA	ENST00000404338.3	+	1	1442	c.1442delA	c.(1441-1443)caafs	p.Q481fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	481	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GGCAAACACCAAAAGCAAATT	0.403																																						dbGAP											0													41.0	41.0	41.0					19																	47423374		1813	4073	5886	-	-	-	SO:0001589	frameshift_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1442delA	19.37:g.47423374delA	ENSP00000385720:p.Gln481fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K482fs	ENST00000404338.3	37	c.1442	CCDS46127.1	19																																																																																			ARHGAP35	-	superfamily_FF_domain,smart_FF_domain	ENSG00000160007		0.403	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	60	0.00	0	A	NM_004491		47423374	47423374	+1	no_errors	ENST00000404338	ensembl	human	known	69_37n	frame_shift_del	55	36.67	33	DEL	1.000	-
ARHGAP36	158763	genome.wustl.edu	37	X	130222619	130222619	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:130222619G>A	ENST00000276211.5	+	12	1849	c.1504G>A	c.(1504-1506)Gct>Act	p.A502T	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A366T|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A490T	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	502					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGAGGAGCCAGCTGTGCCTTC	0.522																																						dbGAP											0													50.0	44.0	46.0					X																	130222619		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1504G>A	X.37:g.130222619G>A	ENSP00000276211:p.Ala502Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A502T	ENST00000276211.5	37	c.1504	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	G	7.033	0.561030	0.13498	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.11169	2.8;2.82;2.81;2.8	4.31	4.31	0.51392	.	0.164826	0.29846	N	0.011059	T	0.05777	0.0151	N	0.08118	0	0.25578	N	0.986829	B;B;B	0.30281	0.13;0.275;0.079	B;B;B	0.29353	0.101;0.101;0.047	T	0.34354	-0.9832	10	0.35671	T	0.21	.	11.0842	0.48078	0.0:0.0:1.0:0.0	.	471;490;502	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	T	502;490;471;366	ENSP00000276211:A502T;ENSP00000359960:A490T;ENSP00000408515:A471T;ENSP00000359959:A366T	ENSP00000276211:A502T	A	+	1	0	ARHGAP36	130050300	0.993000	0.37304	0.996000	0.52242	0.031000	0.12232	2.288000	0.43514	2.383000	0.81215	0.600000	0.82982	GCT	ARHGAP36	-	NULL	ENSG00000147256		0.522	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	139	0.00	0	G	NM_144967		130222619	130222619	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	missense	108	34.94	58	SNP	0.994	A
ARHGAP4	393	genome.wustl.edu	37	X	153184655	153184655	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153184655G>A	ENST00000350060.5	-	6	805	c.764C>T	c.(763-765)gCt>gTt	p.A255V	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A234V|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.A295V|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A232V	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	255					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGACAGCAGCGTTGACACT	0.557																																						dbGAP											0													221.0	141.0	168.0					X																	153184655		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.764C>T	X.37:g.153184655G>A	ENSP00000203786:p.Ala255Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A255V	ENST00000350060.5	37	c.764	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754636	0.69648	.	.	ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	4.44	4.44	0.53790	.	0.000000	0.38548	N	0.001645	T	0.64371	0.2592	M	0.86097	2.795	0.39002	D	0.959375	P;P	0.49307	0.922;0.922	P;P	0.50136	0.632;0.511	T	0.73427	-0.3986	10	0.87932	D	0	.	10.7267	0.46072	0.0:0.0:0.8092:0.1908	.	295;255	Q86UY3;P98171	.;RHG04_HUMAN	V	295;255;234;232;30	ENSP00000359045:A295V;ENSP00000203786:A255V;ENSP00000359033:A234V;ENSP00000444169:A232V;ENSP00000398019:A30V	ENSP00000203786:A255V	A	-	2	0	ARHGAP4	152837849	0.968000	0.33430	0.399000	0.26333	0.868000	0.49771	5.140000	0.64807	1.946000	0.56461	0.479000	0.44913	GCT	ARHGAP4	-	NULL	ENSG00000089820		0.557	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	283	0.35	1	G	NM_001666		153184655	153184655	-1	no_errors	ENST00000350060	ensembl	human	known	69_37n	missense	145	38.24	91	SNP	0.488	A
ARHGAP5	394	genome.wustl.edu	37	14	32561797	32561797	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:32561797C>A	ENST00000345122.3	+	2	2237	c.1922C>A	c.(1921-1923)tCg>tAg	p.S641*	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.S641*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.S641*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.S641*|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	641					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GATGCCAAATCGCCTTACTTT	0.393																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											0													141.0	139.0	140.0					14																	32561797		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1922C>A	14.37:g.32561797C>A	ENSP00000371897:p.Ser641*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.S641*	ENST00000345122.3	37	c.1922	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	40	8.114721	0.98662	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	5.48	4.58	0.56647	.	0.051776	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	14.8751	0.70488	0.0:0.9301:0.0:0.0699	.	.	.	.	X	641	.	ENSP00000371897:S641X	S	+	2	0	ARHGAP5	31631548	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.826000	0.62715	1.426000	0.47256	0.650000	0.86243	TCG	ARHGAP5	-	NULL	ENSG00000100852		0.393	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	223	0.00	0	C	NM_001030055		32561797	32561797	+1	no_errors	ENST00000345122	ensembl	human	known	69_37n	nonsense	178	29.37	74	SNP	1.000	A
ARHGAP6	395	genome.wustl.edu	37	X	11160421	11160421	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:11160421T>A	ENST00000337414.4	-	12	3061	c.2189A>T	c.(2188-2190)gAg>gTg	p.E730V	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E527V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E555V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E527V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	730					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATCGAAAGGCTCCTCTGACAG	0.328																																						dbGAP											0													88.0	86.0	87.0					X																	11160421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2189A>T	X.37:g.11160421T>A	ENSP00000338967:p.Glu730Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E730V	ENST00000337414.4	37	c.2189	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	T	16.69	3.192897	0.58017	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414	T;T;T;T	0.29655	1.66;1.59;1.59;1.56	5.24	5.24	0.73138	.	0.111709	0.39083	N	0.001463	T	0.44603	0.1301	M	0.65975	2.015	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.51701	0.677;0.677	T	0.48328	-0.9045	10	0.72032	D	0.01	.	14.2873	0.66254	0.0:0.0:0.0:1.0	.	730;730	O43182;A8KAL3	RHG06_HUMAN;.	V	555;527;527;730	ENSP00000438135:E555V;ENSP00000370112:E527V;ENSP00000302312:E527V;ENSP00000338967:E730V	ENSP00000302312:E527V	E	-	2	0	ARHGAP6	11070342	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	6.664000	0.74437	1.752000	0.51891	0.481000	0.45027	GAG	ARHGAP6	-	NULL	ENSG00000047648		0.328	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	307	0.00	0	T	NM_013427		11160421	11160421	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	missense	219	36.96	129	SNP	0.996	A
ARHGAP6	395	genome.wustl.edu	37	X	11308542	11308542	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:11308542T>C	ENST00000337414.4	-	2	1461				AMELX_ENST00000348912.4_5'Flank|ARHGAP6_ENST00000380732.3_Silent_p.T215T|AMELX_ENST00000380712.3_5'Flank|AMELX_ENST00000380714.3_5'Flank|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTACGATGTGTATCGGAAT	0.393																																						dbGAP											0													139.0	134.0	136.0					X																	11308542		1853	4088	5941	-	-	-	SO:0001627	intron_variant	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.589-35715A>G	X.37:g.11308542T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T215	ENST00000337414.4	37	c.645	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL	ENSG00000047648		0.393	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	300	0.00	0	T	NM_013427		11308542	11308542	-1	no_errors	ENST00000380732	ensembl	human	known	69_37n	silent	221	39.07	143	SNP	0.001	C
ARHGEF10L	55160	genome.wustl.edu	37	1	17953903	17953903	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:17953903G>A	ENST00000361221.3	+	15	1648	c.1489G>A	c.(1489-1491)Gct>Act	p.A497T	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A458T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A458T|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A205T|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A275T|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.A255T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A497T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	497	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					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)		GGAGACGCTGGCTGAGAAGCT	0.622																																						dbGAP											0													43.0	45.0	44.0					1																	17953903		2202	4300	6502	-	-	-	SO:0001583	missense	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.1489G>A	1.37:g.17953903G>A	ENSP00000355060:p.Ala497Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.A497T	ENST00000361221.3	37	c.1489	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.063299	0.93898	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;1.45	4.94	4.94	0.65067	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	M	0.71871	2.18	0.26969	N	0.965636	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0	T	0.74890	-0.3510	10	0.72032	D	0.01	-20.8051	16.8823	0.86066	0.0:0.0:1.0:0.0	.	275;255;497;205;263;458;458;497	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	T	497;458;497;458;255;275;275;205	ENSP00000355060:A497T;ENSP00000399401:A458T;ENSP00000394621:A497T;ENSP00000364564:A458T;ENSP00000364569:A255T;ENSP00000364557:A275T;ENSP00000167825:A205T	ENSP00000167825:A205T	A	+	1	0	ARHGEF10L	17826490	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.203000	0.95033	2.568000	0.86640	0.462000	0.41574	GCT	ARHGEF10L	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000074964		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	30	0.00	0	G	NM_018125		17953903	17953903	+1	no_errors	ENST00000361221	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	A
ARMC2	84071	genome.wustl.edu	37	6	109282824	109282824	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:109282824G>A	ENST00000392644.4	+	14	2133	c.1965G>A	c.(1963-1965)gcG>gcA	p.A655A	ARMC2_ENST00000368972.3_Silent_p.A490A|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	655										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATGCTACAGCGACAATCAACA	0.373																																						dbGAP											0													88.0	86.0	86.0					6																	109282824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1965G>A	6.37:g.109282824G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.A655	ENST00000392644.4	37	c.1965	CCDS5069.2	6																																																																																			ARMC2	-	superfamily_ARM-type_fold	ENSG00000118690		0.373	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	186	0.00	0	G	NM_032131		109282824	109282824	+1	no_errors	ENST00000392644	ensembl	human	known	69_37n	silent	164	35.69	91	SNP	0.996	A
ARID1B	57492	genome.wustl.edu	37	6	157505482	157505482	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:157505482A>T	ENST00000350026.5	+	12	3425	c.3424A>T	c.(3424-3426)Aag>Tag	p.K1142*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.K1195*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.K1137*|ARID1B_ENST00000346085.5_Nonsense_Mutation_p.K1155*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1142	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTTTGAGTGCAAGATCGAACG	0.582																																						dbGAP											0													76.0	74.0	75.0					6																	157505482		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3424A>T	6.37:g.157505482A>T	ENSP00000055163:p.Lys1142*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.K1195*	ENST00000350026.5	37	c.3583	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	A	39	7.507981	0.98325	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000414678;ENST00000319584;ENST00000400790	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	X	1155;1142;1195;1137;612;664;617;209	.	ENSP00000275248:K1137X	K	+	1	0	ARID1B	157547174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.329000	0.96413	2.254000	0.74563	0.533000	0.62120	AAG	ARID1B	-	superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000049618		0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	119	0.00	0	A	NM_020732		157505482	157505482	+1	no_errors	ENST00000367148	ensembl	human	known	69_37n	nonsense	24	76.92	80	SNP	1.000	T
ARR3	407	genome.wustl.edu	37	X	69495968	69495968	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:69495968G>A	ENST00000307959.8	+	6	233	c.182G>A	c.(181-183)cGt>cAt	p.R61H	ARR3_ENST00000374495.3_Missense_Mutation_p.R61H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	61					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CGCTATGGCCGTGATGACTTG	0.542																																						dbGAP											0													131.0	84.0	100.0					X																	69495968		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.182G>A	X.37:g.69495968G>A	ENSP00000311538:p.Arg61His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.R61H	ENST00000307959.8	37	c.182	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549659	0.45383	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.50277	0.75;0.75;0.75	4.23	-1.47	0.08772	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.156520	0.64402	N	0.000020	T	0.46776	0.1410	M	0.83953	2.67	0.34818	D	0.738388	B;B	0.17038	0.008;0.02	B;B	0.10450	0.001;0.005	T	0.49908	-0.8889	10	0.62326	D	0.03	1.8107	10.3945	0.44192	0.3082:0.0:0.6918:0.0	.	61;61	P36575;P36575-2	ARRC_HUMAN;.	H	61;61;10;61	ENSP00000363619:R61H;ENSP00000425505:R10H;ENSP00000311538:R61H	ENSP00000311538:R61H	R	+	2	0	ARR3	69412693	0.973000	0.33851	0.964000	0.40570	0.985000	0.73830	1.732000	0.38146	-0.474000	0.06862	-0.268000	0.10319	CGT	ARR3	-	pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin	ENSG00000120500		0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2	249	0.40	1	G	NM_004312		69495968	69495968	+1	no_errors	ENST00000307959	ensembl	human	known	69_37n	missense	179	30.35	78	SNP	0.998	A
ASAP2	8853	genome.wustl.edu	37	2	9525431	9525431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:9525431C>T	ENST00000281419.3	+	21	2414	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	ASAP2_ENST00000315273.4_Nonsense_Mutation_p.R692*	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	692					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATATGAATGGCGACTACTCCA	0.453																																						dbGAP											0													166.0	136.0	146.0					2																	9525431		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2074C>T	2.37:g.9525431C>T	ENSP00000281419:p.Arg692*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y8	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.R692*	ENST00000281419.3	37	c.2074	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.433845	0.99169	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.75	5.75	0.90469	.	0.193423	0.46145	D	0.000314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.7604	0.69602	0.1444:0.8556:0.0:0.0	.	.	.	.	X	692	.	ENSP00000281419:R692X	R	+	1	2	ASAP2	9442882	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	1.041000	0.30291	2.716000	0.92895	0.655000	0.94253	CGA	ASAP2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000151693		0.453	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	317	0.00	0	C	NM_003887		9525431	9525431	+1	no_errors	ENST00000281419	ensembl	human	known	69_37n	nonsense	209	31.48	96	SNP	1.000	T
ASB13	79754	genome.wustl.edu	37	10	5693197	5693197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:5693197delG	ENST00000357700.6	-	3	387	c.361delC	c.(361-363)ctgfs	p.L121fs	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	121					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCCTCGTGCAGGGGGGACGCT	0.627																																						dbGAP											0													66.0	69.0	68.0					10																	5693197		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.361delC	10.37:g.5693197delG	ENSP00000350331:p.Leu121fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L121fs	ENST00000357700.6	37	c.361	CCDS7070.1	10																																																																																			ASB13	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000196372		0.627	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB13	HGNC	protein_coding	OTTHUMT00000046564.1	39	0.00	0	G			5693197	5693197	-1	no_errors	ENST00000357700	ensembl	human	known	69_37n	frame_shift_del	31	30.43	14	DEL	0.997	-
ASH1L	55870	genome.wustl.edu	37	1	155450676	155450676	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155450676A>G	ENST00000368346.3	-	3	2624	c.1985T>C	c.(1984-1986)aTt>aCt	p.I662T	ASH1L_ENST00000392403.3_Missense_Mutation_p.I662T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	662					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATAGTATGAATGCTGGATTC	0.338																																						dbGAP											0													54.0	57.0	56.0					1																	155450676		2188	4294	6482	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1985T>C	1.37:g.155450676A>G	ENSP00000357330:p.Ile662Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.I662T	ENST00000368346.3	37	c.1985		1	.	.	.	.	.	.	.	.	.	.	A	9.104	1.004902	0.19199	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90444	-2.67;-2.67	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	N	0.14661	0.345	0.80722	D	1	B;B	0.27732	0.118;0.187	B;B	0.28011	0.039;0.085	T	0.69363	-0.5165	10	0.26408	T	0.33	.	6.7756	0.23619	0.7689:0.1544:0.0767:0.0	.	662;662	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	T	662	ENSP00000357330:I662T;ENSP00000376204:I662T	ENSP00000357330:I662T	I	-	2	0	ASH1L	153717300	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.631000	0.46502	2.324000	0.78689	0.533000	0.62120	ATT	ASH1L	-	NULL	ENSG00000116539		0.338	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	86	0.00	0	A	NM_018489		155450676	155450676	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	134	18.29	30	SNP	1.000	G
ASMTL	8623	genome.wustl.edu	37	X	1536899	1536900	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:1536899_1536900insG	ENST00000381317.3	-	11	1520_1521	c.1488_1489insC	c.(1486-1491)cccggafs	p.G497fs	ASMTL_ENST00000381333.4_Frame_Shift_Ins_p.G481fs|ASMTL_ENST00000416733.2_Frame_Shift_Ins_p.G421fs|ASMTL_ENST00000534940.1_Frame_Shift_Ins_p.G439fs	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	497	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCTGCGGTCCGGGGGGTTGGA	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1489dupC	X.37:g.1536905_1536905dupG	ENSP00000370718:p.Gly497fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Frame_Shift_Ins	INS	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.G496fs	ENST00000381317.3	37	c.1489_1488	CCDS43917.1	X																																																																																			ASMTL	-	pfam_O_MeTrfase_2	ENSG00000169093		0.599	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	464	0.00	0	-	NM_004192		1536899	1536900	-1	no_errors	ENST00000381317	ensembl	human	known	69_37n	frame_shift_ins	328	30.06	141	INS	0.038:0.003	G
ASPH	444	genome.wustl.edu	37	8	62588724	62588726	+	Intron	DEL	TTC	TTC	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000517847.2_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4800GAA>-	8.37:g.62588733_62588735delTTC		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	pfam_Asp-B-hydro/Triadin_dom	p.E174in_frame_del	ENST00000379454.4	37	c.522_520	CCDS34898.1	8																																																																																			ASPH	-	NULL	ENSG00000198363		0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	323	0.62	2	TTC	NM_004318		62588724	62588726	-1	no_errors	ENST00000379449	ensembl	human	putative	69_37n	in_frame_del	237	26.75	88	DEL	1.000:1.000:1.000	-
ASPM	259266	genome.wustl.edu	37	1	197060006	197060006	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:197060006A>T	ENST00000367409.4	-	23	9866	c.9610T>A	c.(9610-9612)Ttc>Atc	p.F3204I	ASPM_ENST00000294732.7_Missense_Mutation_p.F1619I|ASPM_ENST00000367408.1_Missense_Mutation_p.F869I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3204	IQ 38. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 39. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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						CCACTAGTGAATTTTTCCTGC	0.353																																						dbGAP											0													86.0	86.0	86.0					1																	197060006		2203	4299	6502	-	-	-	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.9610T>A	1.37:g.197060006A>T	ENSP00000356379:p.Phe3204Ile	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.F3204I	ENST00000367409.4	37	c.9610	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	A	0.128	-1.116540	0.01799	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.71103	-0.54;-0.54;1.35	5.05	-10.1	0.00402	.	1.220510	0.05729	N	0.599298	T	0.40297	0.1111	N	0.17474	0.49	0.09310	N	1	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.10450	0.002;0.0;0.005	T	0.25882	-1.0119	10	0.07644	T	0.81	.	2.9091	0.05731	0.1034:0.2802:0.3376:0.2789	.	1190;1619;3204	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	I	3204;1619;869;1190	ENSP00000356379:F3204I;ENSP00000294732:F1619I;ENSP00000356378:F869I	ENSP00000294732:F1619I	F	-	1	0	ASPM	195326629	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.174000	0.00571	-2.215000	0.00733	-0.589000	0.04120	TTC	ASPM	-	superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	192	0.00	0	A	NM_018136		197060006	197060006	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	393	16.91	80	SNP	0.000	T
ASTN2	23245	genome.wustl.edu	37	9	119737556	119737556	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:119737556T>C	ENST00000313400.4	-	10	1920	c.1820A>G	c.(1819-1821)gAg>gGg	p.E607G	ASTN2_ENST00000361209.2_Missense_Mutation_p.E556G|ASTN2_ENST00000373996.3_Missense_Mutation_p.E603G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	607					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GATGGACAGCTCCACAGGCGG	0.547																																						dbGAP											0													84.0	81.0	82.0					9																	119737556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1820A>G	9.37:g.119737556T>C	ENSP00000314038:p.Glu607Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.E607G	ENST00000313400.4	37	c.1820		9	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054833	0.75960	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15017	2.63;2.63;2.46;2.66	5.79	5.79	0.91817	.	0.179891	0.47852	D	0.000217	T	0.30541	0.0768	L	0.29908	0.895	0.80722	D	1	D;P;D	0.89917	1.0;0.457;0.97	D;B;P	0.85130	0.997;0.11;0.857	T	0.02301	-1.1180	9	.	.	.	-31.098	16.1282	0.81408	0.0:0.0:0.0:1.0	.	556;607;603	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	G	607;603;330;556	ENSP00000314038:E607G;ENSP00000363108:E603G;ENSP00000363098:E330G;ENSP00000354504:E556G	.	E	-	2	0	ASTN2	118777377	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	2.209000	0.71365	0.459000	0.35465	GAG	ASTN2	-	NULL	ENSG00000148219		0.547	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		90	0.00	0	T	NM_014010		119737556	119737556	-1	no_errors	ENST00000313400	ensembl	human	known	69_37n	missense	75	29.91	32	SNP	1.000	C
ASXL2	55252	genome.wustl.edu	37	2	25967093	25967093	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:25967093C>A	ENST00000435504.4	-	13	2406	c.2113G>T	c.(2113-2115)Ggt>Tgt	p.G705C	ASXL2_ENST00000336112.4_Missense_Mutation_p.G677C|ASXL2_ENST00000272341.4_Missense_Mutation_p.G445C|ASXL2_ENST00000404843.1_Missense_Mutation_p.G445C			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	705	Gly-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCCTTCACCACCCTCTCCT	0.647																																						dbGAP											0													96.0	95.0	95.0					2																	25967093		1977	4162	6139	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2113G>T	2.37:g.25967093C>A	ENSP00000391447:p.Gly705Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.G705C	ENST00000435504.4	37	c.2113		2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216694	0.39201	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.27402	1.67;1.67;1.75;1.75	5.94	4.14	0.48551	.	0.270495	0.31922	N	0.006850	T	0.41396	0.1157	M	0.62723	1.935	0.09310	N	0.999991	D;P	0.58268	0.982;0.938	P;B	0.52267	0.694;0.319	T	0.30909	-0.9962	10	0.59425	D	0.04	-2.4015	11.9931	0.53186	0.0:0.8563:0.0:0.1437	.	445;705	Q76L83-2;Q76L83	.;ASXL2_HUMAN	C	705;677;445;445	ENSP00000391447:G705C;ENSP00000337250:G677C;ENSP00000383920:G445C;ENSP00000272341:G445C	ENSP00000272341:G445C	G	-	1	0	ASXL2	25820597	0.000000	0.05858	0.973000	0.42090	0.949000	0.60115	0.308000	0.19314	1.527000	0.49086	0.563000	0.77884	GGT	ASXL2	-	NULL	ENSG00000143970		0.647	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	124	0.00	0	C	NM_018263		25967093	25967093	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	86	41.89	62	SNP	0.093	A
ATF4P4	100127952	genome.wustl.edu	37	11	113661260	113661260	+	RNA	SNP	G	G	A	rs557285778		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:113661260G>A	ENST00000393544.2	+	0	1308									activating transcription factor 4 pseudogene 4																		TCCAATAACAGCAAGGAGGAT	0.517																																						dbGAP											0																																										-	-	-			0					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113661260G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-	ENSG00000256167		0.517	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	85	0.00	0	G	NG_021835		113661260	113661260	+1	no_errors	ENST00000393544	ensembl	human	known	69_37n	rna	44	48.84	42	SNP	0.864	A
ATL1	51062	genome.wustl.edu	37	14	51058288	51058288	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:51058288T>C	ENST00000358385.6	+	4	694	c.453T>C	c.(451-453)ttT>ttC	p.F151F	ATL1_ENST00000441560.2_Silent_p.F151F|ATL1_ENST00000357032.3_Silent_p.F151F|ATL1_ENST00000354525.4_Silent_p.F151F	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	151	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGGGAACCTTTGATAGTCAGT	0.373																																						dbGAP											0													143.0	135.0	138.0					14																	51058288		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.453T>C	14.37:g.51058288T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.F151	ENST00000358385.6	37	c.453	CCDS9700.1	14																																																																																			ATL1	-	pfam_Guanylate-bd_N	ENSG00000198513		0.373	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	356	0.28	1	T			51058288	51058288	+1	no_errors	ENST00000357032	ensembl	human	known	69_37n	silent	245	34.75	131	SNP	1.000	C
ATM	472	genome.wustl.edu	37	11	108235935	108235935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:108235935C>T	ENST00000452508.2	+	63	9166	c.8977C>T	c.(8977-8979)Cga>Tga	p.R2993*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R2993*|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2993					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGAATGCAAACGAAATCTCAG	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			GRCh37	CM960113	ATM	M							128.0	121.0	123.0					11																	108235935		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8977C>T	11.37:g.108235935C>T	ENSP00000388058:p.Arg2993*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2993*	ENST00000452508.2	37	c.8977	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	50	16.580870	0.99867	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.52	3.44	0.39384	.	0.338429	0.29594	N	0.011712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6939	0.40145	0.2678:0.6297:0.1025:0.0	.	.	.	.	X	2993	.	ENSP00000278616:R2993X	R	+	1	2	ATM	107741145	1.000000	0.71417	0.986000	0.45419	0.835000	0.47333	1.651000	0.37302	1.333000	0.45449	-0.171000	0.13296	CGA	ATM	-	smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	300	0.33	1	C	NM_000051		108235935	108235935	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	nonsense	217	36.26	124	SNP	1.000	T
ATN1	1822	genome.wustl.edu	37	12	7050587	7050587	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:7050587G>A	ENST00000356654.4	+	9	3646	c.3409G>A	c.(3409-3411)Gct>Act	p.A1137T	C12orf57_ENST00000540506.2_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000544681.1_5'Flank|RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000229281.5_5'Flank|ATN1_ENST00000396684.2_Missense_Mutation_p.A1137T|C12orf57_ENST00000537087.1_5'Flank	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1137					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GATGTCAGCAGCTCATCAGCT	0.617																																						dbGAP											0													64.0	66.0	65.0					12																	7050587		2202	4298	6500	-	-	-	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3409G>A	12.37:g.7050587G>A	ENSP00000349076:p.Ala1137Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.A1137T	ENST00000356654.4	37	c.3409	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.080470	0.94050	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.60920	0.15;0.15;0.15	4.32	4.32	0.51571	.	0.000000	0.33772	U	0.004567	T	0.73837	0.3638	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77664	-0.2503	10	0.87932	D	0	.	17.4047	0.87470	0.0:0.0:1.0:0.0	.	1137	P54259	ATN1_HUMAN	T	1137;1137;1137;722	ENSP00000349076:A1137T;ENSP00000379915:A1137T;ENSP00000441744:A1137T	ENSP00000229279:A722T	A	+	1	0	ATN1	6920848	1.000000	0.71417	0.991000	0.47740	0.811000	0.45836	9.657000	0.98554	2.420000	0.82092	0.655000	0.94253	GCT	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.617	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	14	0.00	0	G	NM_001940		7050587	7050587	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	missense	11	47.62	10	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160047421	160047421	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:160047421G>A	ENST00000327245.5	-	15	3195	c.2349C>T	c.(2347-2349)ggC>ggT	p.G783G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	783					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAACAATCTCGCCAGTCAGTG	0.592																																						dbGAP											0													52.0	56.0	54.0					5																	160047421		2094	4205	6299	-	-	-	SO:0001819	synonymous_variant	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2349C>T	5.37:g.160047421G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G783	ENST00000327245.5	37	c.2349	CCDS43394.1	5																																																																																			ATP10B	-	superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000118322		0.592	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	90	0.00	0	G	NM_025153		160047421	160047421	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	silent	59	39.80	39	SNP	0.000	A
ATP1A1	476	genome.wustl.edu	37	1	116942043	116942043	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:116942043T>C	ENST00000295598.5	+	18	2702	c.2450T>C	c.(2449-2451)gTt>gCt	p.V817A	ATP1A1_ENST00000369496.4_Splice_Site_p.V786A|ATP1A1_ENST00000537345.1_Splice_Site_p.V817A	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	817					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CCTTCCCAGGTTCCTGCCATC	0.428																																						dbGAP											0													60.0	59.0	59.0					1																	116942043		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2449-1T>C	1.37:g.116942043T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V817A	ENST00000295598.5	37	c.2450	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096867	0.56075	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.95756	-3.8;-3.8;-3.8	4.94	3.8	0.43715	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.056715	0.64402	D	0.000001	D	0.94522	0.8236	L	0.58669	1.825	0.80722	D	1	P;B	0.36065	0.535;0.361	P;P	0.51193	0.532;0.662	D	0.93933	0.7216	10	0.59425	D	0.04	.	11.8892	0.52620	0.0:0.0:0.1462:0.8537	.	817;817	F5H3A1;P05023	.;AT1A1_HUMAN	A	817;817;786	ENSP00000295598:V817A;ENSP00000445306:V817A;ENSP00000358508:V786A	ENSP00000295598:V817A	V	+	2	0	ATP1A1	116743566	1.000000	0.71417	0.965000	0.40720	0.396000	0.30629	7.868000	0.87116	0.882000	0.36016	-0.313000	0.08912	GTT	ATP1A1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.428	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	195	0.00	0	T	NM_001160233	Missense_Mutation	116942043	116942043	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	127	32.45	61	SNP	0.997	C
ATP1A2	477	genome.wustl.edu	37	1	160093075	160093075	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:160093075A>G	ENST00000361216.3	+	4	339	c.250A>G	c.(250-252)Acc>Gcc	p.T84A	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T84A	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	84					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACCTCCCACAACCCCTGAGTG	0.637																																						dbGAP											0													160.0	159.0	159.0					1																	160093075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.250A>G	1.37:g.160093075A>G	ENSP00000354490:p.Thr84Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.T84A	ENST00000361216.3	37	c.250	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225805	0.58668	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79454	-1.27;-1.27	5.24	5.24	0.73138	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80407	0.4617	M	0.83312	2.635	0.80722	D	1	B	0.32893	0.389	P	0.44921	0.464	D	0.83855	0.0265	10	0.87932	D	0	.	14.2733	0.66164	1.0:0.0:0.0:0.0	.	84	P50993	AT1A2_HUMAN	A	84	ENSP00000354490:T84A;ENSP00000376066:T84A	ENSP00000354490:T84A	T	+	1	0	ATP1A2	158359699	1.000000	0.71417	0.661000	0.29709	0.378000	0.30076	9.139000	0.94554	2.200000	0.70718	0.459000	0.35465	ACC	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000018625		0.637	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	190	0.52	1	A	NM_000702		160093075	160093075	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	missense	361	17.96	81	SNP	1.000	G
ATP1A3	478	genome.wustl.edu	37	19	42474445	42474445	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:42474445G>A	ENST00000302102.5	-	18	2584	c.2434C>T	c.(2434-2436)Ctg>Ttg	p.L812L	ATP1A3_ENST00000543770.1_Silent_p.L823L|ATP1A3_ENST00000602133.1_Silent_p.L782L|ATP1A3_ENST00000545399.1_Silent_p.L825L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	812					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCGTACGCCAGTGAGATGGCA	0.637																																						dbGAP											0													66.0	56.0	60.0					19																	42474445		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2434C>T	19.37:g.42474445G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.L825	ENST00000302102.5	37	c.2473	CCDS12594.1	19																																																																																			ATP1A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105409		0.637	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	224	0.44	1	G	NM_152296		42474445	42474445	-1	no_errors	ENST00000545399	ensembl	human	known	69_37n	silent	146	35.68	81	SNP	0.095	A
ATP1A4	480	genome.wustl.edu	37	1	160124898	160124898	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:160124898delC	ENST00000368081.4	+	3	742	c.271delC	c.(271-273)cccfs	p.P92fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	92	Interaction with phosphoinositide-3 kinase. {ECO:0000250}.				ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTACCCCACCCCCCACCAC	0.527																																						dbGAP											0													114.0	113.0	114.0					1																	160124898		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.271delC	1.37:g.160124898delC	ENSP00000357060:p.Pro92fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.T93fs	ENST00000368081.4	37	c.271	CCDS1197.1	1																																																																																			ATP1A4	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000132681		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	215	0.00	0	C	NM_144699		160124898	160124898	+1	no_errors	ENST00000368081	ensembl	human	known	69_37n	frame_shift_del	463	12.41	67	DEL	1.000	-
ATP1B4	23439	genome.wustl.edu	37	X	119500623	119500623	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:119500623G>A	ENST00000218008.3	+	2	364	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	ATP1B4_ENST00000539306.1_Missense_Mutation_p.A103T|ATP1B4_ENST00000361319.3_Missense_Mutation_p.A103T	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	103					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GATGTTTCTGGCCCGAACAGG	0.512																																						dbGAP											0													93.0	76.0	82.0					X																	119500623		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.307G>A	X.37:g.119500623G>A	ENSP00000218008:p.Ala103Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RR0|Q9UN41	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.A103T	ENST00000218008.3	37	c.307	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145725	0.77888	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.29655	1.56;1.56;1.8	5.36	4.48	0.54585	.	0.187863	0.56097	D	0.000024	T	0.31734	0.0806	N	0.14661	0.345	0.36234	D	0.852854	P;D;D	0.54601	0.956;0.967;0.96	P;P;P	0.55713	0.549;0.782;0.675	T	0.45366	-0.9266	10	0.66056	D	0.02	-41.2609	13.6386	0.62237	0.0:0.0:0.8442:0.1558	.	103;103;103	B7ZKW0;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	T	103	ENSP00000218008:A103T;ENSP00000355346:A103T;ENSP00000443334:A103T	ENSP00000218008:A103T	A	+	1	0	ATP1B4	119384651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.203000	0.89739	1.103000	0.41568	0.589000	0.80489	GCC	ATP1B4	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000101892		0.512	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	HGNC	protein_coding	OTTHUMT00000058095.1	121	0.00	0	G	NM_001142447		119500623	119500623	+1	no_errors	ENST00000218008	ensembl	human	known	69_37n	missense	84	30.33	37	SNP	1.000	A
ATP2B1	490	genome.wustl.edu	37	12	89996933	89996933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:89996933G>A	ENST00000428670.3	-	18	3403	c.2947C>T	c.(2947-2949)Caa>Taa	p.Q983*	ATP2B1_ENST00000261173.2_Nonsense_Mutation_p.Q983*|ATP2B1_ENST00000359142.3_Nonsense_Mutation_p.Q983*|ATP2B1_ENST00000348959.3_Nonsense_Mutation_p.Q983*|ATP2B1_ENST00000393164.2_Nonsense_Mutation_p.Q726*			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	983					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTGAAAAGTTGCATCAGCACA	0.353																																						dbGAP											0													75.0	72.0	73.0					12																	89996933		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2947C>T	12.37:g.89996933G>A	ENSP00000392043:p.Gln983*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.Q983*	ENST00000428670.3	37	c.2947	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	41	9.030511	0.99042	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.6834	19.1442	0.93458	0.0:0.0:1.0:0.0	.	.	.	.	X	983;983;983;983;726	.	ENSP00000261173:Q983X	Q	-	1	0	ATP2B1	88521064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.589000	0.87451	0.655000	0.94253	CAA	ATP2B1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000070961		0.353	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	238	0.00	0	G	NM_001682		89996933	89996933	-1	no_errors	ENST00000261173	ensembl	human	known	69_37n	nonsense	214	34.76	114	SNP	1.000	A
ATP5L	10632	genome.wustl.edu	37	11	118279788	118279788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:118279788delG	ENST00000300688.3	+	3	799	c.287delG	c.(286-288)cggfs	p.R96fs	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Intron	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	96					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		ATAGGCAAGCGGGGCATCATT	0.393																																						dbGAP											0													121.0	110.0	114.0					11																	118279788		2200	4296	6496	-	-	-	SO:0001589	frameshift_variant	0			AF092124	CCDS8397.1	11q23.3	2012-10-12	2010-06-11		ENSG00000167283	ENSG00000167283		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	14247	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G"""			11230166, 11042152	Standard	NR_033759		Approved	ATP5JG	uc001psx.3	O75964		ENST00000300688.3:c.287delG	11.37:g.118279788delG	ENSP00000300688:p.Arg96fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0K3|Q96BV6|Q9UBZ7	Frame_Shift_Del	DEL	pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met	p.G97fs	ENST00000300688.3	37	c.287	CCDS8397.1	11																																																																																			ATP5L	-	pfam_ATPase_F0-cplx_gsu_mt,pirsf_ATP-Synthase_su_G_mt_met	ENSG00000167283		0.393	ATP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5L	HGNC	protein_coding	OTTHUMT00000389220.1	412	0.00	0	G	NM_006476		118279788	118279788	+1	no_errors	ENST00000300688	ensembl	human	known	69_37n	frame_shift_del	316	27.17	122	DEL	1.000	-
ATP6V0A1	535	genome.wustl.edu	37	17	40666400	40666400	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:40666400C>T	ENST00000343619.4	+	21	2465	c.2342C>T	c.(2341-2343)gCc>gTc	p.A781V	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A732V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A781V|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A427V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A775V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A738V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A782V|RP11-400F19.18_ENST00000591237.1_RNA|MIR5010_ENST00000582846.1_RNA	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	781					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCTTCACTGCCTTTGCCACC	0.607																																						dbGAP											0													238.0	206.0	217.0					17																	40666400		2203	4300	6503	-	-	-	SO:0001583	missense	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2342C>T	17.37:g.40666400C>T	ENSP00000342951:p.Ala781Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.A782V	ENST00000343619.4	37	c.2345	CCDS45684.1	17	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445277	0.25987	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	4.57	3.55	0.40652	.	0.054064	0.64402	D	0.000001	T	0.70842	0.3270	N	0.10664	0.02	0.51012	D	0.999906	P;B;B;P;B	0.35307	0.494;0.012;0.012;0.488;0.009	B;B;B;B;B	0.36092	0.217;0.021;0.057;0.174;0.019	T	0.69409	-0.5153	10	0.14656	T	0.56	-10.315	16.0374	0.80640	0.0:0.854:0.146:0.0	.	732;738;782;781;775	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	V	781;781;775;782;732;427	ENSP00000342951:A781V;ENSP00000444676:A781V;ENSP00000377415:A775V;ENSP00000264649:A782V;ENSP00000443991:A732V;ENSP00000446377:A427V	ENSP00000264649:A782V	A	+	2	0	ATP6V0A1	37919926	1.000000	0.71417	0.997000	0.53966	0.793000	0.44817	3.878000	0.56130	2.390000	0.81377	0.561000	0.74099	GCC	ATP6V0A1	-	pfam_ATPase_V0/A0_a	ENSG00000033627		0.607	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	346	0.00	0	C	NM_001130020		40666400	40666400	+1	no_errors	ENST00000264649	ensembl	human	known	69_37n	missense	74	61.54	120	SNP	0.999	T
ATP6V1B1	525	genome.wustl.edu	37	2	71185491	71185491	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:71185491C>T	ENST00000234396.4	+	4	375	c.302C>T	c.(301-303)gCc>gTc	p.A101V	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A101V	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	101					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GGGATCGATGCCAGGAAGACC	0.587																																						dbGAP											0													87.0	78.0	81.0					2																	71185491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.302C>T	2.37:g.71185491C>T	ENSP00000234396:p.Ala101Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FY0|Q6P4H6	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.A101V	ENST00000234396.4	37	c.302	CCDS1912.1	2	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653255	0.47362	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000454446	D;D;D	0.85171	-1.95;-1.95;-1.95	4.58	4.58	0.56647	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);	0.084638	0.48767	D	0.000161	T	0.73171	0.3553	N	0.12569	0.235	0.51767	D	0.999934	B;B;B	0.17667	0.023;0.003;0.001	B;B;B	0.26517	0.07;0.011;0.013	T	0.66991	-0.5783	10	0.13853	T	0.58	-5.0262	15.2537	0.73568	0.0:1.0:0.0:0.0	.	76;101;101	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	V	101;76;101;118	ENSP00000234396:A101V;ENSP00000388353:A101V;ENSP00000408361:A118V	ENSP00000234396:A101V	A	+	2	0	ATP6V1B1	71038999	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.581000	0.82535	2.539000	0.85634	0.650000	0.86243	GCC	ATP6V1B1	-	pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.587	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	152	0.00	0	C	NM_001692		71185491	71185491	+1	no_errors	ENST00000234396	ensembl	human	known	69_37n	missense	130	35.32	71	SNP	1.000	T
ATP7A	538	genome.wustl.edu	37	X	77245410	77245410	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:77245410T>C	ENST00000341514.6	+	4	1447	c.1292T>C	c.(1291-1293)tTg>tCg	p.L431S	ATP7A_ENST00000343533.5_Missense_Mutation_p.L431S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	431	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCAGAAACGTTGAGAGGAGCA	0.388																																						dbGAP											0													76.0	70.0	72.0					X																	77245410		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1292T>C	X.37:g.77245410T>C	ENSP00000345728:p.Leu431Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.L431S	ENST00000341514.6	37	c.1292	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818254	0.71028	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.90900	-2.75;-2.75	5.95	5.95	0.96441	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.64402	D	0.000001	D	0.97040	0.9033	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98272	1.0504	10	0.87932	D	0	-13.078	15.3627	0.74492	0.0:0.0:0.0:1.0	.	431;441	Q04656;Q59HD1	ATP7A_HUMAN;.	S	431;431;441	ENSP00000343026:L431S;ENSP00000345728:L431S	ENSP00000345728:L431S	L	+	2	0	ATP7A	77132066	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.040000	0.89188	2.011000	0.59026	0.481000	0.45027	TTG	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd	ENSG00000165240		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	135	0.00	0	T	NM_000052		77245410	77245410	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	103	37.20	61	SNP	1.000	C
ATP8B2	57198	genome.wustl.edu	37	1	154320943	154320943	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154320943G>A	ENST00000368489.3	+	27	3322	c.3322G>A	c.(3322-3324)Gtc>Atc	p.V1108I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1094					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCACCACAGTCGTCTGCAT	0.607																																						dbGAP											0													92.0	76.0	81.0					1																	154320943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3322G>A	1.37:g.154320943G>A	ENSP00000357475:p.Val1108Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V1108I	ENST00000368489.3	37	c.3322	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173678	0.38413	.	.	ENSG00000143515	ENST00000368489	T	0.47177	0.85	4.55	4.55	0.56014	.	0.429611	0.22757	N	0.056005	T	0.22666	0.0547	L	0.35644	1.08	0.80722	D	1	B	0.19445	0.036	B	0.23150	0.044	T	0.06303	-1.0834	10	0.13470	T	0.59	.	16.0268	0.80550	0.0:0.0:1.0:0.0	.	1108	P98198-3	.	I	1108	ENSP00000357475:V1108I	ENSP00000357475:V1108I	V	+	1	0	ATP8B2	152587567	0.942000	0.31987	0.667000	0.29798	0.755000	0.42902	4.654000	0.61469	2.349000	0.79799	0.491000	0.48974	GTC	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000143515		0.607	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	113	0.00	0	G	NM_020452		154320943	154320943	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	199	15.68	37	SNP	0.792	A
ATRNL1	26033	genome.wustl.edu	37	10	116887435	116887435	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:116887435delT	ENST00000355044.3	+	4	696	c.570delT	c.(568-570)catfs	p.H190fs	ATRNL1_ENST00000527407.1_Frame_Shift_Del_p.H190fs|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	190	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CACTGTTACATTTTTTTAGTG	0.313																																						dbGAP											0													149.0	131.0	137.0					10																	116887435		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.570delT	10.37:g.116887435delT	ENSP00000347152:p.His190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EGF-like,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F192fs	ENST00000355044.3	37	c.570	CCDS7592.1	10																																																																																			ATRNL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107518		0.313	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	512	0.00	0	T	XM_049349		116887435	116887435	+1	no_errors	ENST00000355044	ensembl	human	known	69_37n	frame_shift_del	379	37.58	230	DEL	1.000	-
ATRX	546	genome.wustl.edu	37	X	76939856	76939858	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:76939856_76939858delTCT	ENST00000373344.5	-	9	1104_1106	c.890_892delAGA	c.(889-894)aagata>ata	p.K297del	ATRX_ENST00000395603.3_In_Frame_Del_p.K259del|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	297					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAACTTTTATCTTCTTCTTATT	0.335			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								-	-	-	SO:0001651	inframe_deletion	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.890_892delAGA	X.37:g.76939862_76939864delTCT	ENSP00000362441:p.Lys297del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K297in_frame_del	ENST00000373344.5	37	c.892_890	CCDS14434.1	X																																																																																			ATRX	-	NULL	ENSG00000085224		0.335	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	416	0.00	0	TCT	NM_000489		76939856	76939858	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	in_frame_del	341	27.91	132	DEL	0.998:0.996:1.000	-
ATXN10	25814	genome.wustl.edu	37	22	46202974	46202974	+	Intron	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:46202974A>C	ENST00000252934.5	+	10	1502				ATXN10_ENST00000381061.4_Intron|ATXN10_ENST00000402380.3_Intron	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10						cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CCCTTGCCTCATGTTCATTCA	0.438																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1237+72A>C	22.37:g.46202974A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain	p.H136P	ENST00000252934.5	37	c.407	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	A	2.738	-0.262860	0.05754	.	.	ENSG00000130638	ENST00000451241	.	.	.	3.35	-6.71	0.01760	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21177	-1.0253	4	.	.	.	.	2.5506	0.04748	0.3744:0.1157:0.3932:0.1167	.	.	.	.	P	136	.	.	H	+	2	0	ATXN10	44581638	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.226000	0.02953	-1.840000	0.01184	-2.115000	0.00351	CAT	ATXN10	-	NULL	ENSG00000130638		0.438	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	176	0.00	0	A	NM_013236		46202974	46202974	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000451241	ensembl	human	putative	69_37n	missense	101	44.20	80	SNP	0.000	C
ATXN2	6311	genome.wustl.edu	37	12	111895157	111895157	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:111895157G>A	ENST00000377617.3	-	22	3538	c.3377C>T	c.(3376-3378)aCg>aTg	p.T1126M	ATXN2_ENST00000608853.1_Missense_Mutation_p.T966M|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.T861M|ATXN2_ENST00000389153.4_Missense_Mutation_p.T863M|ATXN2_ENST00000535949.1_Missense_Mutation_p.T819M	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1126					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AAGGGAGCCCGTGGAAACTAA	0.512																																						dbGAP											0													160.0	140.0	147.0					12																	111895157		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3377C>T	12.37:g.111895157G>A	ENSP00000366843:p.Thr1126Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.T1126M	ENST00000377617.3	37	c.3377	CCDS31902.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.271179|4.271179	0.80469|0.80469	.|.	.|.	ENSG00000204842|ENSG00000204842	ENST00000550889|ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	.|T	.|0.67345	.|-0.26	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.245170	.|0.40385	.|N	.|0.001104	T|T	0.72036|0.72036	0.3411|0.3411	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;1.0;0.999	.|D;D;P;D;P	.|0.65773	.|0.938;0.925;0.747;0.92;0.843	T|T	0.69072|0.69072	-0.5242|-0.5242	6|10	0.87932|0.33141	D|T	0|0.24	-11.7245|-11.7245	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127;1126;819;861;863	.|Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.|.;ATX2_HUMAN;.;.;.	W|M	11|181;863;1126;127;861;819;51	.|ENSP00000366843:T1126M	ENSP00000449162:R11W|ENSP00000366843:T1126M	R|T	-|-	1|2	2|0	ATXN2|ATXN2	110379540|110379540	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	5.092000|5.092000	0.64511|0.64511	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	CGG|ACG	ATXN2	-	NULL	ENSG00000204842		0.512	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	605	0.16	1	G	NM_002973		111895157	111895157	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	428	36.20	244	SNP	0.995	A
CEP131	22994	genome.wustl.edu	37	17	79170839	79170839	+	Missense_Mutation	SNP	G	G	A	rs573786538		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:79170839G>A	ENST00000269392.4	-	14	1920	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	AZI1_ENST00000450824.2_Missense_Mutation_p.A555V|AZI1_ENST00000374782.3_Missense_Mutation_p.A555V|AZI1_ENST00000575907.1_Missense_Mutation_p.A558V|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000570482.2_5'Flank	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		558					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCCCGGCCCCGCCTCCGGCAC	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		12947	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													17.0	15.0	16.0					17																	79170839		2155	4259	6414	-	-	-	SO:0001583	missense	0																														ENST00000269392.4:c.1673C>T	17.37:g.79170839G>A	ENSP00000269392:p.Ala558Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.A558V	ENST00000269392.4	37	c.1673		17	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833610	0.32421	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.15487	2.45;2.42;2.45	5.13	-1.56	0.08532	.	0.605063	0.15960	N	0.236265	T	0.09598	0.0236	L	0.36672	1.1	0.22675	N	0.998867	B;B;B;B	0.22211	0.054;0.025;0.066;0.025	B;B;B;B	0.19148	0.011;0.011;0.024;0.004	T	0.23511	-1.0186	10	0.31617	T	0.26	-5.5561	2.9158	0.05752	0.17:0.0846:0.4572:0.2881	.	555;558;555;555	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	555;555;558	ENSP00000393583:A555V;ENSP00000363914:A555V;ENSP00000269392:A558V	ENSP00000269392:A558V	A	-	2	0	AZI1	76785434	0.354000	0.24912	0.063000	0.19743	0.020000	0.10135	0.869000	0.27996	-0.129000	0.11620	0.313000	0.20887	GCG	AZI1	-	NULL	ENSG00000141577		0.706	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	61	0.00	0	G			79170839	79170839	-1	no_errors	ENST00000269392	ensembl	human	known	69_37n	missense	91	20.33	25	SNP	0.348	A
B4GALNT4	338707	genome.wustl.edu	37	11	375759	375759	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:375759A>G	ENST00000329962.6	+	10	971	c.971A>G	c.(970-972)gAt>gGt	p.D324G		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	324					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCCAGGGATACCTTTTTC	0.716																																						dbGAP											0													20.0	23.0	22.0					11																	375759		2180	4285	6465	-	-	-	SO:0001583	missense	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.971A>G	11.37:g.375759A>G	ENSP00000328277:p.Asp324Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LV2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.D324G	ENST00000329962.6	37	c.971	CCDS7694.1	11	.	.	.	.	.	.	.	.	.	.	a	16.97	3.269951	0.59540	.	.	ENSG00000182272	ENST00000329962	T	0.77358	-1.09	3.4	3.4	0.38934	.	0.265229	0.32736	N	0.005714	D	0.85561	0.5725	M	0.72353	2.195	0.53688	D	0.999979	D	0.89917	1.0	D	0.80764	0.994	D	0.86862	0.2030	10	0.72032	D	0.01	-32.001	11.9491	0.52944	1.0:0.0:0.0:0.0	.	324	Q76KP1	B4GN4_HUMAN	G	324	ENSP00000328277:D324G	ENSP00000328277:D324G	D	+	2	0	B4GALNT4	365759	1.000000	0.71417	0.992000	0.48379	0.429000	0.31625	6.719000	0.74718	1.547000	0.49401	0.402000	0.26972	GAT	B4GALNT4	-	NULL	ENSG00000182272		0.716	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	15	0.00	0	A	NM_178537		375759	375759	+1	no_errors	ENST00000329962	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	1.000	G
B9D1	27077	genome.wustl.edu	37	17	19246897	19246897	+	Intron	DEL	C	C	-	rs543618525	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:19246897delC	ENST00000261499.4	-	7	616				B9D1_ENST00000395615.1_Intron|B9D1_ENST00000395616.3_Intron|B9D1_ENST00000477478.2_Frame_Shift_Del_p.G202fs|B9D1_ENST00000461069.2_Intron|MIR1180_ENST00000408613.1_RNA|B9D1_ENST00000575403.1_Intron	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1						camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ctgacccaagcccctcactgg	0.587																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.473-123G>-	17.37:g.19246897delC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BU22	Frame_Shift_Del	DEL	NULL	p.G202fs	ENST00000261499.4	37	c.605	CCDS11205.1	17																																																																																			B9D1	-	NULL	ENSG00000108641		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1	31	0.00	0	C	NM_015681		19246897	19246897	-1	no_errors	ENST00000477478	ensembl	human	putative	69_37n	frame_shift_del	11	42.11	8	DEL	0.000	-
BACE2	25825	genome.wustl.edu	37	21	42647649	42647649	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:42647649G>A	ENST00000330333.6	+	0	2118				BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.5_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TTTCTCCTGTGCCCACCCGTC	0.478																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.*98G>A	21.37:g.42647649G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	RNA	SNP	-	NULL	ENST00000330333.6	37	NULL	CCDS13668.1	21																																																																																			BACE2	-	-	ENSG00000182240		0.478	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	35	0.00	0	G			42647649	42647649	+1	no_errors	ENST00000466122	ensembl	human	known	69_37n	rna	27	37.21	16	SNP	0.000	A
BAHCC1	57597	genome.wustl.edu	37	17	79428464	79428464	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:79428464C>T	ENST00000307745.7	+	30	6775	c.6775C>T	c.(6775-6777)Cgg>Tgg	p.R2259W	RP11-1055B8.8_ENST00000572590.1_RNA																							CAAGAAGGGGCGGGCACCCAT	0.692																																						dbGAP											0													7.0	10.0	9.0					17																	79428464		1898	4093	5991	-	-	-	SO:0001583	missense	0																														ENST00000307745.7:c.6775C>T	17.37:g.79428464C>T	ENSP00000303486:p.Arg2259Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R2259W	ENST00000307745.7	37	c.6775		17	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115893	0.37339	.	.	ENSG00000171282	ENST00000307745	T	0.15603	2.41	4.98	4.98	0.66077	.	0.148255	0.29152	N	0.012990	T	0.32376	0.0827	L	0.46614	1.455	0.27165	N	0.961068	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.06075	-1.0847	10	0.87932	D	0	.	10.9147	0.47129	0.1878:0.8122:0.0:0.0	.	2259;2259	Q9P281;F8WBW8	BAHC1_HUMAN;.	W	2259	ENSP00000303486:R2259W	ENSP00000303486:R2259W	R	+	1	2	AC110285.1	77043059	0.809000	0.29036	0.992000	0.48379	0.122000	0.20287	1.928000	0.40104	2.316000	0.78162	0.313000	0.20887	CGG	BAHCC1	-	NULL	ENSG00000171282		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		16	0.00	0	C			79428464	79428464	+1	no_errors	ENST00000307745	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.797	T
BAX	581	genome.wustl.edu	37	19	49458970	49458971	+	Frame_Shift_Ins	INS	-	-	G	rs141306106|rs398122842|rs398122841|rs398122840		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:49458970_49458971insG	ENST00000345358.7	+	3	165_166	c.113_114insG	c.(112-117)atggggfs	p.MG38fs	BAX_ENST00000391871.3_Frame_Shift_Ins_p.W21fs|BAX_ENST00000293288.8_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000415969.2_Frame_Shift_Ins_p.MG38fs|BAX_ENST00000539787.1_Frame_Shift_Ins_p.MG38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594																																						dbGAP											1	Deletion - Frameshift(1)	lung(1)							,,,	38,4226		0,38,2094					,,,	4.0	0.3			58	42,8212		0,42,4085	no	frameshift,intron,frameshift,frameshift	BAX	NM_138764.4,NM_138763.3,NM_138761.3,NM_004324.3	,,,	0,80,6179	A1A1,A1R,RR		0.5088,0.8912,0.6391	,,,	,,,		80,12438				-	-	-	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.121dupG	19.37:g.49458978_49458978dupG	ENSP00000263262:p.Met38fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Ins	INS	pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH	p.E41fs	ENST00000345358.7	37	c.113_114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.594	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	142	0.00	0	-	NM_138763		49458970	49458971	+1	no_errors	ENST00000293288	ensembl	human	known	69_37n	frame_shift_ins	103	28.97	42	INS	0.585:0.588	G
BAZ1B	9031	genome.wustl.edu	37	7	72907202	72907202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:72907202delT	ENST00000339594.4	-	5	959	c.621delA	c.(619-621)aaafs	p.K207fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.K207fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	207	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTTTCTCCTTTTTTTAATG	0.323																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0													129.0	125.0	126.0					7																	72907202		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.621delA	7.37:g.72907202delT	ENSP00000342434:p.Lys207fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Del	DEL	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.G208fs	ENST00000339594.4	37	c.621	CCDS5549.1	7																																																																																			BAZ1B	-	NULL	ENSG00000009954		0.323	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	590	0.00	0	T	NM_032408		72907202	72907202	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	frame_shift_del	428	32.87	213	DEL	0.998	-
BBX	56987	genome.wustl.edu	37	3	107497243	107497244	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:107497243_107497244insA	ENST00000325805.8	+	13	2367_2368	c.2080_2081insA	c.(2080-2082)gaafs	p.E694fs	BBX_ENST00000406780.1_Frame_Shift_Ins_p.E694fs|BBX_ENST00000402543.1_Frame_Shift_Ins_p.E694fs|BBX_ENST00000415149.2_Frame_Shift_Ins_p.E694fs|BBX_ENST00000416476.2_Frame_Shift_Ins_p.K358fs|BBX_ENST00000473542.1_3'UTR			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	694	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGAAGAATTTGAAAAAAAATTC	0.381																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2088dupA	3.37:g.107497251_107497251dupA	ENSP00000319974:p.Glu694fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Frame_Shift_Ins	INS	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.F697fs	ENST00000325805.8	37	c.2080_2081	CCDS46881.1	3																																																																																			BBX	-	NULL	ENSG00000114439		0.381	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	91	0.00	0	-	NM_020235		107497243	107497244	+1	no_errors	ENST00000325805	ensembl	human	known	69_37n	frame_shift_ins	114	21.38	31	INS	1.000:1.000	A
BCAN	63827	genome.wustl.edu	37	1	156618499	156618499	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:156618499A>G	ENST00000329117.5	+	6	1245	c.909A>G	c.(907-909)ccA>ccG	p.P303P	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.P303P	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	303	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTGCAGCCCAGGGTGGCTAG	0.642																																						dbGAP											0													86.0	79.0	81.0					1																	156618499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.909A>G	1.37:g.156618499A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.P303	ENST00000329117.5	37	c.909	CCDS1149.1	1																																																																																			BCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000132692		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	45	0.00	0	A	NM_021948		156618499	156618499	+1	no_errors	ENST00000329117	ensembl	human	known	69_37n	silent	67	19.28	16	SNP	0.001	G
BCAN	63827	genome.wustl.edu	37	1	156626738	156626738	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:156626738T>G	ENST00000329117.5	+	10	2395	c.2059T>G	c.(2059-2061)Ttc>Gtc	p.F687V	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	687					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCCTCCGCTTCTGCAACCC	0.657																																						dbGAP											0													33.0	35.0	34.0					1																	156626738		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2059T>G	1.37:g.156626738T>G	ENSP00000331210:p.Phe687Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.F687V	ENST00000329117.5	37	c.2059	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	T	0.723	-0.782976	0.02907	.	.	ENSG00000132692	ENST00000329117	T	0.16196	2.36	5.11	3.98	0.46160	C-type lectin-like (1);	0.317743	0.26594	N	0.023508	T	0.01421	0.0046	N	0.01188	-0.97	0.23501	N	0.997543	B	0.17038	0.02	B	0.16722	0.016	T	0.47182	-0.9137	10	0.16420	T	0.52	-6.714	7.7177	0.28715	0.0:0.0944:0.0:0.9056	.	687	Q96GW7	PGCB_HUMAN	V	687	ENSP00000331210:F687V	ENSP00000331210:F687V	F	+	1	0	BCAN	154893362	.	.	0.697000	0.30258	0.033000	0.12548	.	.	0.955000	0.37878	0.459000	0.35465	TTC	BCAN	-	prints_AntifreezeII	ENSG00000132692		0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	41	0.00	0	T	NM_021948		156626738	156626738	+1	no_errors	ENST00000329117	ensembl	human	known	69_37n	missense	30	72.97	81	SNP	0.197	G
BCAP31	10134	genome.wustl.edu	37	X	152967532	152967532	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:152967532G>A	ENST00000345046.6	-	7	1039	c.632C>T	c.(631-633)gCc>gTc	p.A211V	BCAP31_ENST00000458587.2_Missense_Mutation_p.A278V|BCAP31_ENST00000441714.1_Missense_Mutation_p.A211V	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	211					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCGCATGGCCAGAACCTG	0.522																																						dbGAP											0													46.0	40.0	42.0					X																	152967532		2203	4297	6500	-	-	-	SO:0001583	missense	0			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.632C>T	X.37:g.152967532G>A	ENSP00000343458:p.Ala211Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	pfam_Bap31	p.A278V	ENST00000345046.6	37	c.833	CCDS14727.1	X	.	.	.	.	.	.	.	.	.	.	g	23.0	4.356837	0.82243	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587	T;T;T	0.32988	1.43;1.43;1.43	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.60779	0.2295	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.64706	-0.6344	10	0.45353	T	0.12	-13.2016	16.9065	0.86130	0.0:0.0:1.0:0.0	.	211;278	P51572;B3KQ79	BAP31_HUMAN;.	V	211;211;278;278	ENSP00000405417:A211V;ENSP00000343458:A211V;ENSP00000392330:A278V	ENSP00000343458:A211V	A	-	2	0	BCAP31	152620726	1.000000	0.71417	0.998000	0.56505	0.456000	0.32438	6.563000	0.73964	2.254000	0.74563	0.525000	0.51046	GCC	BCAP31	-	pfam_Bap31	ENSG00000185825		0.522	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	172	0.00	0	G	NM_005745		152967532	152967532	-1	no_errors	ENST00000458587	ensembl	human	known	69_37n	missense	89	39.86	59	SNP	1.000	A
BCAR1	9564	genome.wustl.edu	37	16	75271166	75271166	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:75271166G>A	ENST00000162330.5	-	3	836	c.710C>T	c.(709-711)cCg>cTg	p.P237L	BCAR1_ENST00000418647.3_Missense_Mutation_p.P283L|BCAR1_ENST00000546196.1_Missense_Mutation_p.P208L|BCAR1_ENST00000538440.2_Missense_Mutation_p.P237L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P255L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P237L|BCAR1_ENST00000535626.2_Missense_Mutation_p.P89L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.P255L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P235L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	237	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAGGTGTCGCGGGATGTCGTA	0.682																																						dbGAP											0													22.0	22.0	22.0					16																	75271166		2177	4278	6455	-	-	-	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.710C>T	16.37:g.75271166G>A	ENSP00000162330:p.Pro237Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.P283L	ENST00000162330.5	37	c.848	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648481	0.87958	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.69	4.69	0.59074	.	0.691915	0.12653	N	0.450339	T	0.79470	0.4451	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.973;0.996;0.992;0.996;0.993;0.946;0.996;0.963;0.992	T	0.79783	-0.1658	10	0.87932	D	0	-19.8259	16.5646	0.84575	0.0:0.0:1.0:0.0	.	255;89;283;235;237;255;237;237;27	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	L	237;255;255;237;283;89;237;235;208	ENSP00000162330:P237L;ENSP00000377074:P255L;ENSP00000392708:P255L;ENSP00000443841:P237L;ENSP00000391669:P283L;ENSP00000440370:P89L;ENSP00000377072:P237L;ENSP00000440415:P235L;ENSP00000442161:P208L	ENSP00000162330:P237L	P	-	2	0	BCAR1	73828667	1.000000	0.71417	0.991000	0.47740	0.891000	0.51852	6.998000	0.76277	2.349000	0.79799	0.655000	0.94253	CCG	BCAR1	-	NULL	ENSG00000050820		0.682	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	40	0.00	0	G	NM_014567		75271166	75271166	-1	no_errors	ENST00000418647	ensembl	human	known	69_37n	missense	21	41.03	16	SNP	0.996	A
BCKDHA	593	genome.wustl.edu	37	19	41925061	41925061	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:41925061A>G	ENST00000269980.2	+	5	874	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	BCKDHA_ENST00000595085.1_Missense_Mutation_p.Y203C|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.Y203C|BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.Y147C	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	169					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TATCGGGACTACCCCCTGGAA	0.592																																						dbGAP											0													149.0	124.0	132.0					19																	41925061		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.506A>G	19.37:g.41925061A>G	ENSP00000269980:p.Tyr169Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.Y169C	ENST00000269980.2	37	c.506	CCDS12581.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.18|19.18	3.778672|3.778672	0.70107|0.70107	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000541315|ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	.|D;D;D;D	.|0.99121	.|-5.45;-5.45;-5.45;-5.45	5.51|5.51	4.49|4.49	0.54785|0.54785	.|Dehydrogenase, E1 component (1);	.|0.123586	.|0.56097	.|D	.|0.000030	D|D	0.98972|0.98972	0.9650|0.9650	M|M	0.73598|0.73598	2.24|2.24	0.49798|0.49798	D|D	0.99982|0.99982	.|D;B;D;P	.|0.76494	.|0.994;0.156;0.999;0.832	.|P;B;D;B	.|0.68039	.|0.886;0.196;0.955;0.363	D|D	0.99236|0.99236	1.0883|1.0883	5|10	.|0.87932	.|D	.|0	-29.177|-29.177	10.9809|10.9809	0.47494|0.47494	0.8599:0.0:0.0:0.1401|0.8599:0.0:0.0:0.1401	.|.	.|147;169;169;203	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	A|C	136|203;169;140;147;169	.|ENSP00000443246:Y203C;ENSP00000269980:Y169C;ENSP00000440345:Y140C;ENSP00000416000:Y147C	.|ENSP00000269980:Y169C	T|Y	+|+	1|2	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46616901|46616901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	4.936000|4.936000	0.63506|0.63506	0.897000|0.897000	0.36392|0.36392	0.533000|0.533000	0.62120|0.62120	ACC|TAC	BCKDHA	-	pfam_DH_E1	ENSG00000248098		0.592	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	200	0.99	2	A	NM_000709		41925061	41925061	+1	no_errors	ENST00000269980	ensembl	human	known	69_37n	missense	154	32.61	75	SNP	1.000	G
BCL9	607	genome.wustl.edu	37	1	147096678	147096678	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:147096678T>C	ENST00000234739.3	+	10	4939	c.4199T>C	c.(4198-4200)aTg>aCg	p.M1400T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1400					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCCACAGATGAGGCCCCGG	0.577			T	"""IGH@, IGL@"""	B-ALL																																	dbGAP		Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													39.0	43.0	41.0					1																	147096678		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.4199T>C	1.37:g.147096678T>C	ENSP00000234739:p.Met1400Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.M1400T	ENST00000234739.3	37	c.4199	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023060	0.35701	.	.	ENSG00000116128	ENST00000234739	T	0.59224	0.28	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	N	0.19112	0.55	0.58432	D	0.999998	D;D	0.53885	0.963;0.963	P;P	0.50570	0.644;0.644	T	0.53641	-0.8410	10	0.87932	D	0	-10.4171	15.2752	0.73737	0.0:0.0:0.0:1.0	.	1400;1400	Q1JQ81;O00512	.;BCL9_HUMAN	T	1400	ENSP00000234739:M1400T	ENSP00000234739:M1400T	M	+	2	0	BCL9	145563302	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.990000	0.88215	2.011000	0.59026	0.528000	0.53228	ATG	BCL9	-	NULL	ENSG00000116128		0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	53	0.00	0	T	NM_004326		147096678	147096678	+1	no_errors	ENST00000234739	ensembl	human	known	69_37n	missense	104	18.11	23	SNP	1.000	C
BCOR	54880	genome.wustl.edu	37	X	39913235	39913235	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:39913235T>C	ENST00000378444.4	-	14	5108	c.4880A>G	c.(4879-4881)gAt>gGt	p.D1627G	BCOR_ENST00000378463.1_Missense_Mutation_p.D470G|BCOR_ENST00000397354.3_Missense_Mutation_p.D1593G|BCOR_ENST00000378455.4_Missense_Mutation_p.D1575G|BCOR_ENST00000342274.4_Missense_Mutation_p.D1593G	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1627	Poly-Asp.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTCATCATCATCCTGGTCTTC	0.448			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													70.0	54.0	59.0					X																	39913235		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4880A>G	X.37:g.39913235T>C	ENSP00000367705:p.Asp1627Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1627G	ENST00000378444.4	37	c.4880	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144265	0.37825	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70516	-0.49;0.91;0.99;0.96;0.97;0.96;-0.4	5.52	5.52	0.82312	.	.	.	.	.	T	0.60843	0.2300	L	0.38531	1.155	0.26156	N	0.98008	B;B;B	0.28713	0.023;0.22;0.023	B;B;B	0.28709	0.016;0.093;0.016	T	0.53570	-0.8420	9	0.33940	T	0.23	-11.0488	10.9357	0.47243	0.0:0.0:0.0:1.0	.	1575;1627;1593	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	G	497;470;1575;1593;1627;1593;300	ENSP00000408006:D497G;ENSP00000367724:D470G;ENSP00000367716:D1575G;ENSP00000380512:D1593G;ENSP00000367705:D1627G;ENSP00000345923:D1593G;ENSP00000387552:D300G	ENSP00000345923:D1593G	D	-	2	0	BCOR	39798179	0.994000	0.37717	0.084000	0.20598	0.934000	0.57294	3.640000	0.54350	1.852000	0.53769	0.486000	0.48141	GAT	BCOR	-	NULL	ENSG00000183337		0.448	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	195	0.00	0	T	NM_017745		39913235	39913235	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	163	35.06	88	SNP	0.364	C
BCORL1	63035	genome.wustl.edu	37	X	129171439	129171439	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:129171439G>T	ENST00000218147.7	+	9	4600	c.4403G>T	c.(4402-4404)tGg>tTg	p.W1468L	BCORL1_ENST00000303743.5_Missense_Mutation_p.W1542L|BCORL1_ENST00000540052.1_Missense_Mutation_p.W1468L|BCORL1_ENST00000359304.2_Missense_Mutation_p.W1338L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1468					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCCCGGGGCTGGACCGACATC	0.597																																						dbGAP											0													127.0	94.0	105.0					X																	129171439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4403G>T	X.37:g.129171439G>T	ENSP00000218147:p.Trp1468Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.W1542L	ENST00000218147.7	37	c.4625	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574164	0.86542	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.69806	-0.05;-0.43;-0.43;-0.05;-0.43	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.30999	N	0.008445	T	0.65228	0.2671	N	0.03608	-0.345	0.58432	D	0.999993	D;D	0.67145	0.996;0.991	P;D	0.67548	0.895;0.952	T	0.76397	-0.2974	10	0.72032	D	0.01	-7.6188	18.8292	0.92130	0.0:0.0:1.0:0.0	.	1542;1468	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	L	1468;1542;1338;1468;1142	ENSP00000218147:W1468L;ENSP00000307541:W1542L;ENSP00000352253:W1338L;ENSP00000437775:W1468L;ENSP00000399483:W1142L	ENSP00000218147:W1468L	W	+	2	0	BCORL1	128999120	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	7.598000	0.82745	2.392000	0.81423	0.600000	0.82982	TGG	BCORL1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000085185		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	104	0.00	0	G	NM_021946		129171439	129171439	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	missense	66	38.89	42	SNP	1.000	T
BFSP2	8419	genome.wustl.edu	37	3	133167374	133167374	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:133167374A>G	ENST00000302334.2	+	3	703	c.614A>G	c.(613-615)gAa>gGa	p.E205G	BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	205	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCAGAAGAGGAAATTAACTCT	0.368																																						dbGAP											0													61.0	63.0	62.0					3																	133167374		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.614A>G	3.37:g.133167374A>G	ENSP00000304987:p.Glu205Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D32|Q9HBW5	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E205G	ENST00000302334.2	37	c.614	CCDS33859.1	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264411	0.80358	.	.	ENSG00000170819	ENST00000302334	D	0.90261	-2.64	5.17	5.17	0.71159	Filament (1);	0.000000	0.64402	D	0.000018	D	0.91549	0.7331	M	0.66506	2.035	0.80722	D	1	P	0.44946	0.846	P	0.47118	0.538	D	0.92584	0.6077	10	0.87932	D	0	-10.2217	14.999	0.71455	1.0:0.0:0.0:0.0	.	205	Q13515	BFSP2_HUMAN	G	205	ENSP00000304987:E205G	ENSP00000304987:E205G	E	+	2	0	BFSP2	134650064	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.580000	0.90784	1.960000	0.56953	0.454000	0.30748	GAA	BFSP2	-	pfam_F,prints_Keratin_I	ENSG00000170819		0.368	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP2	HGNC	protein_coding	OTTHUMT00000357031.1	181	0.00	0	A			133167374	133167374	+1	no_errors	ENST00000302334	ensembl	human	known	69_37n	missense	120	35.14	65	SNP	1.000	G
BHLHE41	79365	genome.wustl.edu	37	12	26275895	26275895	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:26275895G>T	ENST00000242728.4	-	5	900	c.553C>A	c.(553-555)Cct>Act	p.P185T	RP11-283G6.3_ENST00000545819.1_RNA|RP11-283G6.3_ENST00000535914.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	185					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						TTGCTCAGAGGGACCTGTTGA	0.706																																						dbGAP											0													14.0	19.0	17.0					12																	26275895		2173	4243	6416	-	-	-	SO:0001583	missense	0			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.553C>A	12.37:g.26275895G>T	ENSP00000242728:p.Pro185Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2I2N8	Missense_Mutation	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.P185T	ENST00000242728.4	37	c.553	CCDS8706.1	12	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705706	0.30232	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	T	0.58506	0.33	2.34	1.38	0.22167	.	2.129670	0.03568	U	0.228143	T	0.39963	0.1098	N	0.08118	0	0.58432	D	0.999996	B	0.12013	0.005	B	0.09377	0.004	T	0.08086	-1.0739	10	0.45353	T	0.12	-13.2468	9.0941	0.36629	0.0:0.0:0.7801:0.2199	.	185	Q9C0J9	BHE41_HUMAN	T	185	ENSP00000242728:P185T	ENSP00000242728:P185T	P	-	1	0	BHLHE41	26167162	1.000000	0.71417	0.028000	0.17463	0.852000	0.48524	1.844000	0.39269	0.278000	0.22164	0.313000	0.20887	CCT	BHLHE41	-	NULL	ENSG00000123095		0.706	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE41	HGNC	protein_coding	OTTHUMT00000402714.1	41	0.00	0	G	NM_030762		26275895	26275895	-1	no_errors	ENST00000242728	ensembl	human	known	69_37n	missense	32	37.25	19	SNP	0.685	T
BID	637	genome.wustl.edu	37	22	18226752	18226752	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:18226752C>T	ENST00000399774.3	-	3	209	c.40G>A	c.(40-42)Gag>Aag	p.E14K	BID_ENST00000399767.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.E14K|BID_ENST00000317361.7_Missense_Mutation_p.E60K|BID_ENST00000473439.1_5'UTR|BID_ENST00000551952.1_Missense_Mutation_p.E14K|BID_ENST00000399765.1_Intron	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	14					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GTGATGCACTCATCCCTGAGG	0.587																																						dbGAP											0													110.0	105.0	107.0					22																	18226752		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.40G>A	22.37:g.18226752C>T	ENSP00000382674:p.Glu14Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	pfam_BID	p.E60K	ENST00000399774.3	37	c.178	CCDS13748.1	22	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401939	0.62288	.	.	ENSG00000015475	ENST00000317361;ENST00000399774;ENST00000342111;ENST00000551952	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.48	3.35	0.38373	.	0.359901	0.23803	N	0.044407	T	0.46425	0.1392	L	0.61218	1.895	0.19945	N	0.999945	D;D	0.69078	0.993;0.997	D;D	0.66716	0.925;0.946	T	0.18587	-1.0332	10	0.51188	T	0.08	.	8.8282	0.35067	0.0:0.8166:0.0:0.1833	.	14;60	P55957;P55957-2	BID_HUMAN;.	K	60;14;14;14	ENSP00000318822:E60K;ENSP00000382674:E14K;ENSP00000344594:E14K;ENSP00000449236:E14K	ENSP00000318822:E60K	E	-	1	0	BID	16606752	0.423000	0.25482	0.028000	0.17463	0.013000	0.08279	2.307000	0.43682	1.443000	0.47586	0.561000	0.74099	GAG	BID	-	pfam_BID	ENSG00000015475		0.587	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BID	HGNC	protein_coding	OTTHUMT00000316178.1	87	0.00	0	C	NM_197966		18226752	18226752	-1	no_errors	ENST00000317361	ensembl	human	known	69_37n	missense	100	10.71	12	SNP	0.010	T
BIRC6	57448	genome.wustl.edu	37	2	32740628	32740628	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:32740628G>A	ENST00000421745.2	+	55	11274	c.11140G>A	c.(11140-11142)Gca>Aca	p.A3714T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3714					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTATGGACAGCACTTCTGTT	0.433																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													130.0	114.0	120.0					2																	32740628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11140G>A	2.37:g.32740628G>A	ENSP00000393596:p.Ala3714Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.A3714T	ENST00000421745.2	37	c.11140	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538777	0.65085	.	.	ENSG00000115760	ENST00000421745	T	0.74842	-0.88	5.5	5.5	0.81552	.	0.058367	0.64402	D	0.000002	T	0.72542	0.3473	L	0.57536	1.79	0.58432	D	0.999993	B	0.34103	0.437	B	0.30401	0.115	T	0.73600	-0.3931	10	0.52906	T	0.07	.	19.4028	0.94637	0.0:0.0:1.0:0.0	.	3714	Q9NR09	BIRC6_HUMAN	T	3714	ENSP00000393596:A3714T	ENSP00000393596:A3714T	A	+	1	0	BIRC6	32594132	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.537000	0.60643	2.592000	0.87571	0.585000	0.79938	GCA	BIRC6	-	NULL	ENSG00000115760		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	222	0.00	0	G	NM_016252		32740628	32740628	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	168	29.11	69	SNP	1.000	A
BRPF3	27154	genome.wustl.edu	37	6	36179276	36179276	+	Frame_Shift_Del	DEL	G	G	-	rs79041393		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:36179276delG	ENST00000357641.6	+	7	2674	c.2421delG	c.(2419-2421)cagfs	p.Q807fs	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000534400.1_Frame_Shift_Del_p.Q807fs|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	807					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGGGCCCCAGGGGGATGCAG	0.607																																						dbGAP											0													15.0	14.0	14.0					6																	36179276		2187	4287	6474	-	-	-	SO:0001589	frameshift_variant	0			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2421delG	6.37:g.36179276delG	ENSP00000350267:p.Gln807fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.D809fs	ENST00000357641.6	37	c.2421	CCDS34437.1	6																																																																																			BRPF3	-	NULL	ENSG00000096070		0.607	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	70	0.00	0	G	NM_015695		36179276	36179276	+1	no_errors	ENST00000357641	ensembl	human	known	69_37n	frame_shift_del	52	24.64	17	DEL	0.490	-
BSDC1	55108	genome.wustl.edu	37	1	32849565	32849565	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:32849565T>C	ENST00000455895.2	-	4	256	c.223A>G	c.(223-225)Aag>Gag	p.K75E	BSDC1_ENST00000446293.2_Missense_Mutation_p.K92E|BSDC1_ENST00000449308.1_Missense_Mutation_p.K75E|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000341071.7_Missense_Mutation_p.K92E|BSDC1_ENST00000413080.1_Missense_Mutation_p.K75E|BSDC1_ENST00000526031.1_Intron	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	75										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACCCTTTCTTCATCTTCTCT	0.552																																						dbGAP											0													163.0	150.0	154.0					1																	32849565		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.223A>G	1.37:g.32849565T>C	ENSP00000412173:p.Lys75Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.K92E	ENST00000455895.2	37	c.274	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755913	0.89843	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000325745;ENST00000446293;ENST00000449308;ENST00000530485	.	.	.	5.12	5.12	0.69794	.	0.137275	0.64402	D	0.000003	T	0.76357	0.3976	M	0.71581	2.175	0.58432	D	0.999992	P;D;P	0.60575	0.913;0.988;0.917	P;D;P	0.64776	0.779;0.929;0.606	T	0.79208	-0.1898	9	0.66056	D	0.02	-19.1119	14.7934	0.69860	0.0:0.0:0.0:1.0	.	92;92;75	Q9NW68-7;Q9NW68-3;Q9NW68	.;.;BSDC1_HUMAN	E	75;75;92;75;92;75;36	.	ENSP00000317670:K75E	K	-	1	0	BSDC1	32622152	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.902000	0.87389	2.230000	0.72887	0.460000	0.39030	AAG	BSDC1	-	NULL	ENSG00000160058		0.552	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	266	0.00	0	T	NM_018045		32849565	32849565	-1	no_errors	ENST00000341071	ensembl	human	known	69_37n	missense	189	36.45	109	SNP	1.000	C
BTAF1	9044	genome.wustl.edu	37	10	93787059	93787059	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:93787059T>C	ENST00000265990.6	+	37	5714		c.e37+2		BTAF1_ENST00000544642.1_Splice_Site	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa						negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTTGATAAGGTAAAGAACTTA	0.368																																						dbGAP											0													139.0	143.0	142.0					10																	93787059		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5406+2T>C	10.37:g.93787059T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0W6|O43578	Splice_Site	SNP	-	e37+2	ENST00000265990.6	37	c.5406+2	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326948	0.81690	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9359	0.79707	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTAF1	93777039	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.997000	0.88414	2.225000	0.72522	0.459000	0.35465	.	BTAF1	-	-	ENSG00000095564		0.368	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	306	0.32	1	T	NM_003972	Intron	93787059	93787059	+1	no_errors	ENST00000265990	ensembl	human	known	69_37n	splice_site	220	43.59	170	SNP	1.000	C
BTBD18	643376	genome.wustl.edu	37	11	57518546	57518546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:57518546G>A	ENST00000436147.3	-	1	302	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	CTNND1_ENST00000399039.4_5'Flank|CTNND1_ENST00000529919.1_5'Flank|CTNND1_ENST00000524630.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|RP11-691N7.6_ENST00000531074.1_Intron|BTBD18_ENST00000422652.1_Nonsense_Mutation_p.Q39*			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	39	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(3)|kidney(1)	4						CCTTCTGCCTGCAGAAGGACA	0.453																																						dbGAP											0													57.0	57.0	57.0					11																	57518546		692	1591	2283	-	-	-	SO:0001587	stop_gained	0				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.115C>T	11.37:g.57518546G>A	ENSP00000397020:p.Gln39*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.Q39*	ENST00000436147.3	37	c.115	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.198825	0.97371	.	.	ENSG00000233436	ENST00000422652;ENST00000436147;ENST00000527995	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.616	0.76767	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	ENSP00000394472:Q39X	Q	-	1	0	BTBD18	57275122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.283000	0.51701	2.427000	0.82271	0.655000	0.94253	CAG	BTBD18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000233436		0.453	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2	107	0.00	0	G	NM_001145101		57518546	57518546	-1	no_errors	ENST00000422652	ensembl	human	known	69_37n	nonsense	78	33.90	40	SNP	1.000	A
BTBD3	22903	genome.wustl.edu	37	20	11903955	11903955	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:11903955A>G	ENST00000405977.1	+	5	1835	c.1210A>G	c.(1210-1212)Aga>Gga	p.R404G	BTBD3_ENST00000254977.3_Missense_Mutation_p.R343G|BTBD3_ENST00000399006.2_Missense_Mutation_p.R343G|BTBD3_ENST00000378226.2_Missense_Mutation_p.R404G	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	404					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGTTGATAAAAGAGTGTTCAT	0.537																																						dbGAP											0													83.0	69.0	74.0					20																	11903955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1210A>G	20.37:g.11903955A>G	ENSP00000384545:p.Arg404Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW19|Q5JY73	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R404G	ENST00000405977.1	37	c.1210	CCDS13113.1	20	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715156	0.68844	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.80304	-1.31;-1.31;-1.36;-1.36	6.16	6.16	0.99307	PHR (1);	0.000000	0.85682	D	0.000000	D	0.91566	0.7336	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92916	0.6351	10	0.72032	D	0.01	.	15.9872	0.80168	1.0:0.0:0.0:0.0	.	404	Q9Y2F9	BTBD3_HUMAN	G	343;343;404;404	ENSP00000254977:R343G;ENSP00000381971:R343G;ENSP00000384545:R404G;ENSP00000367471:R404G	ENSP00000254977:R343G	R	+	1	2	BTBD3	11851955	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	3.899000	0.56288	2.367000	0.80283	0.528000	0.53228	AGA	BTBD3	-	pfam_PHR	ENSG00000132640		0.537	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD3	HGNC	protein_coding	OTTHUMT00000078021.3	152	0.65	1	A			11903955	11903955	+1	no_errors	ENST00000378226	ensembl	human	known	69_37n	missense	112	41.15	79	SNP	1.000	G
BTNL9	153579	genome.wustl.edu	37	5	180475112	180475112	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:180475112G>A	ENST00000327705.9	+	3	526	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	BTNL9_ENST00000515271.1_Missense_Mutation_p.A30T|BTNL9_ENST00000376841.2_Missense_Mutation_p.A99T|BTNL9_ENST00000376842.3_Missense_Mutation_p.A99T	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	99	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGATGCCGGCGTTCCGGAA	0.587																																						dbGAP											0													63.0	53.0	56.0					5																	180475112		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.295G>A	5.37:g.180475112G>A	ENSP00000330200:p.Ala99Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.A99T	ENST00000327705.9	37	c.295	CCDS4460.2	5	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506521	0.26949	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.02606	4.23;4.23;4.23;4.23	5.01	3.2	0.36748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.006700	0.08009	N	0.990077	T	0.03827	0.0108	L	0.28115	0.83	0.22424	N	0.999117	B;B	0.27679	0.185;0.011	B;B	0.28139	0.086;0.063	T	0.48703	-0.9012	10	0.56958	D	0.05	.	14.1936	0.65654	0.0:0.3138:0.6862:0.0	.	30;99	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	T	99;99;99;99;30	ENSP00000366037:A99T;ENSP00000330200:A99T;ENSP00000366038:A99T;ENSP00000427345:A30T	ENSP00000330200:A99T	A	+	1	0	BTNL9	180407718	0.058000	0.20735	0.293000	0.24932	0.000000	0.00434	0.315000	0.19451	0.752000	0.32923	-0.219000	0.12488	GCG	BTNL9	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000165810		0.587	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTNL9	HGNC	protein_coding	OTTHUMT00000157342.3	92	0.00	0	G	NM_152547		180475112	180475112	+1	no_errors	ENST00000376842	ensembl	human	known	69_37n	missense	69	34.58	37	SNP	0.833	A
BUB1B	701	genome.wustl.edu	37	15	40512768	40512768	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:40512768delA	ENST00000287598.6	+	23	3156	c.2961delA	c.(2959-2961)ctafs	p.L987fs	PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Frame_Shift_Del_p.L1001fs|PAK6_ENST00000453867.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	987	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTTTTAGGCTAAAAGATGGTG	0.353			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													dbGAP	yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													77.0	81.0	80.0					15																	40512768		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2961delA	15.37:g.40512768delA	ENSP00000287598:p.Leu987fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Frame_Shift_Del	DEL	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.D1003fs	ENST00000287598.6	37	c.3003	CCDS10053.1	15																																																																																			BUB1B	-	NULL	ENSG00000156970		0.353	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	200	0.00	0	A			40512768	40512768	+1	no_errors	ENST00000412359	ensembl	human	known	69_37n	frame_shift_del	136	37.44	85	DEL	0.976	-
C10orf99	387695	genome.wustl.edu	37	10	85933676	85933676	+	Splice_Site	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:85933676A>T	ENST00000372126.3	+	1	183	c.69A>T	c.(67-69)gaA>gaT	p.E23D		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	23						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						TCTCCACAGAAGGTAGGGCAG	0.562																																						dbGAP											0													183.0	147.0	159.0					10																	85933676		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.70+1A>T	10.37:g.85933676A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E23D	ENST00000372126.3	37	c.69	CCDS7371.1	10	.	.	.	.	.	.	.	.	.	.	A	11.25	1.584447	0.28268	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	T	0.70465	0.3227	.	.	.	0.80722	D	1	D	0.64830	0.994	D	0.64410	0.925	T	0.73480	-0.3969	7	0.87932	D	0	.	9.0619	0.36440	1.0:0.0:0.0:0.0	.	23	Q6UWK7	CJ099_HUMAN	D	23	.	ENSP00000361199:E23D	E	+	3	2	C10orf99	85923656	1.000000	0.71417	0.997000	0.53966	0.085000	0.17905	3.765000	0.55272	1.909000	0.55274	0.528000	0.53228	GAA	C10orf99	-	NULL	ENSG00000188373		0.562	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf99	HGNC	protein_coding	OTTHUMT00000049114.1	494	0.00	0	A	NM_207373	Missense_Mutation	85933676	85933676	+1	no_errors	ENST00000372126	ensembl	human	known	69_37n	missense	321	31.78	150	SNP	0.998	T
C10orf90	118611	genome.wustl.edu	37	10	128193497	128193497	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:128193497C>T	ENST00000284694.7	-	3	392	c.272G>A	c.(271-273)cGc>cAc	p.R91H	C10orf90_ENST00000356858.3_Missense_Mutation_p.R44H|C10orf90_ENST00000454341.1_Missense_Mutation_p.R91H|C10orf90_ENST00000392694.1_Missense_Mutation_p.R44H|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.R188H	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	91					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GACTCCGCTGCGGTTAGCCAG	0.552																																						dbGAP											0													151.0	119.0	130.0					10																	128193497		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.272G>A	10.37:g.128193497C>T	ENSP00000284694:p.Arg91His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.R188H	ENST00000284694.7	37	c.563	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665414	0.29604	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23147	2.25;2.25;2.25;2.25;1.92	4.76	-6.15	0.02105	.	0.969423	0.08504	N	0.935924	T	0.13628	0.0330	L	0.45581	1.43	0.09310	N	1	B;B;B;B;B	0.33379	0.011;0.41;0.011;0.011;0.004	B;B;B;B;B	0.21708	0.002;0.036;0.002;0.002;0.001	T	0.11227	-1.0596	10	0.37606	T	0.19	-0.857	2.1737	0.03856	0.1099:0.1713:0.2205:0.4983	.	188;188;44;91;91	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	H	44;91;91;188;91;44;44	ENSP00000284694:R91H;ENSP00000398786:R91H;ENSP00000444369:R188H;ENSP00000405995:R91H;ENSP00000376459:R44H	ENSP00000284694:R91H	R	-	2	0	C10orf90	128183487	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.512000	0.02258	-1.353000	0.02191	0.561000	0.74099	CGC	C10orf90	-	NULL	ENSG00000154493		0.552	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		201	0.00	0	C	NM_001004298		128193497	128193497	-1	no_errors	ENST00000544758	ensembl	human	known	69_37n	missense	128	38.16	79	SNP	0.000	T
C11orf49	79096	genome.wustl.edu	37	11	47182742	47182745	+	Splice_Site	DEL	GTAA	GTAA	-	rs34737621|rs78089169|rs200603540		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:47182742_47182745delGTAA	ENST00000278460.7	+	8	880		c.e8+1		C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000395460.2_Stop_Codon_Del|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TGGAACGGCTGTAAGTGTCAAGTG	0.569											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0									,,,	2,4262		0,2,2130					,,,	5.8	1.0		dbSNP_126	81	2,8252		0,2,4125	no	splice-5,splice-5,splice-5,frameshift	C11orf49	NM_024113.3,NM_001003678.1,NM_001003677.1,NM_001003676.1	,,,	0,4,6255	A1A1,A1R,RR		0.0242,0.0469,0.032	,,,	,,,		4,12514				-	-	-	SO:0001630	splice_region_variant	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.821+1GTAA>-	11.37:g.47182742_47182745delGTAA		Somatic	944	WXS	Illumina GAIIx	Phase_IV	D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Frame_Shift_Del	DEL	NULL	p.*275fs	ENST00000278460.7	37	c.822_825	CCDS7925.1	11																																																																																			C11orf49	-	NULL	ENSG00000149179		0.569	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	121	0.00	0	GTAA	NM_024113	Intron	47182742	47182745	+1	no_errors	ENST00000395460	ensembl	human	known	69_37n	frame_shift_del	122	20.78	32	DEL	1.000:1.000:1.000:1.000	-
C11orf80	79703	genome.wustl.edu	37	11	66529727	66529727	+	Intron	SNP	C	C	T	rs529710248		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:66529727C>T	ENST00000360962.4	+	4	530				C11orf80_ENST00000346672.4_Intron|C11orf80_ENST00000532565.2_Intron|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000540737.1_Intron|C11orf80_ENST00000525449.2_Intron|C11orf80_ENST00000527634.1_Intron	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80											autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AGAACACGCGCGCAAACTGAG	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		10889	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	ENST00000360962.4:c.523+3160C>T	11.37:g.66529727C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H677	RNA	SNP	-	NULL	ENST00000360962.4	37	NULL	CCDS53664.1	11																																																																																			C11orf80	-	-	ENSG00000173715		0.726	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf80	HGNC	protein_coding		34	0.00	0	C	NM_024650		66529727	66529727	+1	no_errors	ENST00000527368	ensembl	human	known	69_37n	rna	9	50.00	9	SNP	0.001	T
RBM7	10179	genome.wustl.edu	37	11	114270753	114270753	+	5'UTR	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:114270753G>T	ENST00000540163.1	+	0	2				RP11-212D19.4_ENST00000544347.1_5'Flank|C11orf71_ENST00000325636.4_Missense_Mutation_p.L101I|RBM7_ENST00000545678.1_5'Flank|RBM7_ENST00000544582.1_5'Flank|RBM7_ENST00000375490.5_5'Flank|RBM7_ENST00000541475.1_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7						meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CTTCTTAGGAGATCGGGTTCA	0.552																																						dbGAP											0													60.0	60.0	60.0					11																	114270753		1937	4134	6071	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.-641G>T	11.37:g.114270753G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6K8|Q9NUT4	Missense_Mutation	SNP	NULL	p.L101I	ENST00000540163.1	37	c.301	CCDS8370.1	11	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431227	0.62844	.	.	ENSG00000180425	ENST00000325636	.	.	.	4.74	4.74	0.60224	.	0.426434	0.17484	N	0.172590	T	0.63733	0.2536	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65443	0.935;0.935	T	0.65734	-0.6096	9	0.87932	D	0	-2.9716	13.4356	0.61082	0.0:0.0:1.0:0.0	.	101;101	Q6IPW1;Q6IPW1-2	CK071_HUMAN;.	I	101	.	ENSP00000325508:L101I	L	-	1	0	C11orf71	113775963	0.418000	0.25440	0.010000	0.14722	0.007000	0.05969	3.784000	0.55416	2.617000	0.88574	0.655000	0.94253	CTC	C11orf71	-	NULL	ENSG00000180425		0.552	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	C11orf71	HGNC	protein_coding	OTTHUMT00000399010.1	80	0.00	0	G	NM_016090		114270753	114270753	-1	no_errors	ENST00000325636	ensembl	human	known	69_37n	missense	61	26.51	22	SNP	0.011	T
C14orf37	145407	genome.wustl.edu	37	14	58599980	58599980	+	Silent	SNP	A	A	T	rs368240070		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:58599980A>T	ENST00000267485.7	-	3	1643	c.1449T>A	c.(1447-1449)gcT>gcA	p.A483A	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	483						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GCTCGAGGGTAGCAACCTGCT	0.478																																						dbGAP											0													131.0	133.0	132.0					14																	58599980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1449T>A	14.37:g.58599980A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z8|Q6P5Q1|Q86TY1	Silent	SNP	NULL	p.A483	ENST00000267485.7	37	c.1449	CCDS32089.1	14																																																																																			C14orf37	-	NULL	ENSG00000139971		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	223	0.00	0	A	NM_001001872		58599980	58599980	-1	no_errors	ENST00000267485	ensembl	human	known	69_37n	silent	158	38.13	98	SNP	0.020	T
HEATR4	399671	genome.wustl.edu	37	14	73959452	73959452	+	Intron	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:73959452T>A	ENST00000553558.1	-	17	3166				HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCCGTGTGTATCATCTGGAAG	0.498																																						dbGAP											0													61.0	64.0	63.0					14																	73959452		1919	4125	6044	-	-	-	SO:0001627	intron_variant	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+317A>T	14.37:g.73959452T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7V9|E9KL41	RNA	SNP	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-	ENSG00000255242		0.498	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2	175	0.00	0	T	NM_203309		73959452	73959452	+1	no_errors	ENST00000531973	ensembl	human	known	69_37n	rna	90	40.00	60	SNP	1.000	A
ELMSAN1	91748	genome.wustl.edu	37	14	74194160	74194160	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:74194160C>T	ENST00000286523.5	-	5	2945		c.e5+1		ELMSAN1_ENST00000394071.2_Splice_Site	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCTGCACTTACGGCTCGATGC	0.627																																						dbGAP											0													48.0	46.0	47.0					14																	74194160		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2162+1G>A	14.37:g.74194160C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Splice_Site	SNP	-	e4+1	ENST00000286523.5	37	c.2162+1	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734254	0.89482	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6528	0.95823	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C14orf43	73263913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	2.646000	0.89796	0.655000	0.94253	.	C14orf43	-	-	ENSG00000156030		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf43	HGNC	protein_coding	OTTHUMT00000317793.1	69	0.00	0	C	NM_194278	Intron	74194160	74194160	-1	no_errors	ENST00000286523	ensembl	human	known	69_37n	splice_site	40	24.53	13	SNP	1.000	T
CDIP1	29965	genome.wustl.edu	37	16	4563017	4563017	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:4563017delG	ENST00000399599.3	-	4	838	c.290delC	c.(289-291)ccafs	p.P97fs	CDIP1_ENST00000563332.2_Frame_Shift_Del_p.P97fs|CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000567695.1_Frame_Shift_Del_p.P97fs|CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000562334.1_Intron			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	97	Pro-rich.				apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)											GTAGGGCCCTGGGGGGTAGTA	0.667																																						dbGAP											0													9.0	10.0	9.0					16																	4563017		1819	4043	5862	-	-	-	SO:0001589	frameshift_variant	0			AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"""cell death involved p53-target"", ""lipopolysaccharide-induced TNF factor-like"""	610503	"""chromosome 16 open reading frame 5"""	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.290delC	16.37:g.4563017delG	ENSP00000382508:p.Pro97fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Frame_Shift_Del	DEL	pfam_LITAF,smart_LITAF	p.P97fs	ENST00000399599.3	37	c.290	CCDS42114.1	16																																																																																			C16orf5	-	NULL	ENSG00000089486		0.667	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C16orf5	HGNC	protein_coding	OTTHUMT00000435718.2	29	0.00	0	G	NM_013399		4563017	4563017	-1	no_errors	ENST00000399599	ensembl	human	known	69_37n	frame_shift_del	22	25.81	8	DEL	0.740	-
PAGR1	79447	genome.wustl.edu	37	16	29828310	29828312	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:29828310_29828312delAAG	ENST00000320330.6	+	1	1026_1028	c.464_466delAAG	c.(463-468)aaagaa>aaa	p.E160del	AC009133.12_ENST00000569809.1_RNA|AC009133.12_ENST00000564980.1_RNA|AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000609618.1_In_Frame_Del_p.E160del			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	160	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											CCGGAGGCCAAAGAAGAGGAAGA	0.626											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.464_466delAAG	16.37:g.29828313_29828315delAAG	ENSP00000326519:p.Glu160del	Somatic	812	WXS	Illumina GAIIx	Phase_IV	A2ICR6	In_Frame_Del	DEL	NULL	p.E159in_frame_del	ENST00000320330.6	37	c.464_466	CCDS10655.1	16																																																																																			C16orf53	-	NULL	ENSG00000185928		0.626	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	C16orf53	HGNC	protein_coding	OTTHUMT00000473165.1	92	0.00	0	AAG	NM_024516		29828310	29828312	+1	no_errors	ENST00000320330	ensembl	human	known	69_37n	in_frame_del	55	30.49	25	DEL	0.998:1.000:1.000	-
C17orf104	284071	genome.wustl.edu	37	17	42744742	42744742	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:42744742C>T	ENST00000409122.2	+	5	1605	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	C17orf104_ENST00000359945.3_Missense_Mutation_p.P488L|C17orf104_ENST00000409464.1_Missense_Mutation_p.P322L	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	488										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AATAACACTCCTATTCCTTAT	0.318																																						dbGAP											0													60.0	63.0	62.0					17																	42744742		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1463C>T	17.37:g.42744742C>T	ENSP00000386452:p.Pro488Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	NULL	p.P488L	ENST00000409122.2	37	c.1463	CCDS45703.2	17	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202183	0.22121	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.33216	1.42;1.43;1.44	5.67	3.69	0.42338	.	0.159187	0.44688	D	0.000436	T	0.24774	0.0601	L	0.38175	1.15	0.38433	D	0.946501	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.07908	-1.0748	10	0.72032	D	0.01	-16.071	11.0487	0.47874	0.0:0.8556:0.0:0.1444	.	488;488;322	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	L	488;488;322	ENSP00000353028:P488L;ENSP00000386452:P488L;ENSP00000386586:P322L	ENSP00000353028:P488L	P	+	2	0	C17orf104	40100268	0.983000	0.35010	0.997000	0.53966	0.871000	0.50021	0.836000	0.27545	0.751000	0.32900	0.655000	0.94253	CCT	C17orf104	-	NULL	ENSG00000180336		0.318	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2	138	0.00	0	C	NM_001145080		42744742	42744742	+1	no_errors	ENST00000409122	ensembl	human	known	69_37n	missense	35	60.23	53	SNP	0.994	T
C1R	715	genome.wustl.edu	37	12	7242820	7242820	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:7242820C>A	ENST00000542285.1	-	3	402	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	C1R_ENST00000602298.1_5'Flank			P00736	C1R_HUMAN	complement component 1, r subcomponent	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGAACCTCCCCAGGCTTTTC	0.552																																						dbGAP											0													20.0	21.0	21.0					12																	7242820		1929	4129	6058	-	-	-	SO:0001583	missense	0			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.253G>T	12.37:g.7242820C>A	ENSP00000438615:p.Gly85Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.G100W	ENST00000542285.1	37	c.298		12	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553257	0.86127	.	.	ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000290575;ENST00000542285;ENST00000540242	T;T	0.29397	1.57;1.57	5.33	5.33	0.75918	CUB (5);	0.000000	0.64402	D	0.000001	T	0.59742	0.2216	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64296	-0.6441	9	0.87932	D	0	.	19.0362	0.92980	0.0:1.0:0.0:0.0	.	100;86	B4DPQ0;P00736	.;C1R_HUMAN	W	86;100;100;85;86	ENSP00000438615:G85W;ENSP00000442946:G86W	ENSP00000290575:G100W	G	-	1	0	C1R	7133961	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.307000	0.72815	2.488000	0.83962	0.462000	0.41574	GGG	C1R	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000159403		0.552	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		103	0.00	0	C	NM_001733		7242820	7242820	-1	no_errors	ENST00000290575	ensembl	human	known	69_37n	missense	58	46.79	51	SNP	1.000	A
C1orf111	284680	genome.wustl.edu	37	1	162346433	162346434	+	Intron	INS	-	-	A	rs558695730|rs150155141	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:162346433_162346434insA	ENST00000367935.5	-	1	183				RP11-565P22.6_ENST00000431696.1_Intron|C1orf226_ENST00000426197.2_5'Flank	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111											central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTAAAAGCTTCAAAAAAAACCA	0.436																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.103+43->T	1.37:g.162346441_162346441dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X961|Q8NEC3	RNA	INS	-	NULL	ENST00000367935.5	37	NULL	CCDS1238.1	1																																																																																			C1orf111	-	-	ENSG00000171722		0.436	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2	128	0.00	0	-	NM_182581		162346433	162346434	-1	no_errors	ENST00000493255	ensembl	human	known	69_37n	rna	248	16.22	48	INS	0.001:0.001	A
CFAP74	85452	genome.wustl.edu	37	1	1857266	1857266	+	IGR	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:1857266T>C								TMEM52 (6554 upstream) : C1orf222 (62296 downstream)																							ACATAGCCCATGTTGAGGACG	0.602																																						dbGAP											0													83.0	67.0	72.0					1																	1857266		2200	4288	6488	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.1857266T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	superfamily_PapD-like	p.M637V		37	c.1909		1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924604	0.34002	.	.	ENSG00000142609	ENST00000493964	T	0.26518	1.73	4.45	4.45	0.53987	.	0.127402	0.51477	D	0.000087	T	0.45597	0.1350	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	D	0.72982	0.979	T	0.40776	-0.9545	10	0.54805	T	0.06	.	11.7583	0.51888	0.0:0.0:0.0:1.0	.	20	Q69YW0	CA222_HUMAN	V	637	ENSP00000417061:M637V	ENSP00000417061:M637V	M	-	1	0	C1orf222	1847126	1.000000	0.71417	0.998000	0.56505	0.389000	0.30415	1.637000	0.37155	1.795000	0.52594	0.397000	0.26171	ATG	C1orf222	-	NULL	ENSG00000142609	0	0.602					C1orf222	HGNC			59	0.00	0	T			1857266	1857266	-1	no_start_codon	ENST00000493964	ensembl	human	putative	69_37n	missense	52	26.76	19	SNP	1.000	C
C1orf228	339541	genome.wustl.edu	37	1	45169767	45169767	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:45169767A>G	ENST00000458657.2	+	7	953	c.646A>G	c.(646-648)Att>Gtt	p.I216V	C1orf228_ENST00000535358.1_Missense_Mutation_p.I216V|C1orf228_ENST00000444751.1_3'UTR			Q6PIY5	CA228_HUMAN	chromosome 1 open reading frame 228	216										central_nervous_system(1)	1						TCAGCCAATCATTGGGACCAC	0.537																																						dbGAP											0													63.0	57.0	59.0					1																	45169767		692	1591	2283	-	-	-	SO:0001583	missense	0			AL122004, AY254217, BC026115	CCDS53311.1	1p34.1	2011-02-22	2009-03-17	2009-03-17	ENSG00000198520	ENSG00000198520			34345	protein-coding gene	gene with protein product			"""non-protein coding RNA 82"""	NCRNA00082		12477932	Standard	NM_001145636		Approved	MGC33556, p40	uc001cmf.2	Q6PIY5	OTTHUMG00000007834	ENST00000458657.2:c.646A>G	1.37:g.45169767A>G	ENSP00000420716:p.Ile216Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1KXE5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I216V	ENST00000458657.2	37	c.646	CCDS53311.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.009|8.009	0.757128|0.757128	0.15846|0.15846	.|.	.|.	ENSG00000198520|ENSG00000198520	ENST00000434068|ENST00000458657;ENST00000441519;ENST00000535358	.|T;T	.|0.47869	.|0.83;0.83	5.24|5.24	-5.06|-5.06	0.02946|0.02946	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.602490	.|0.17956	.|N	.|0.156354	T|T	0.13372|0.13372	0.0324|0.0324	N|N	0.00707|0.00707	-1.245|-1.245	0.09310|0.09310	N|N	0.999997|0.999997	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.28933|0.28933	-1.0028|-1.0028	5|10	.|0.02654	.|T	.|1	-11.1425|-11.1425	17.2181|17.2181	0.86950|0.86950	0.1943:0.0:0.8057:0.0|0.1943:0.0:0.8057:0.0	.|.	.|216	.|Q6PIY5	.|CA228_HUMAN	R|V	82|216	.|ENSP00000420716:I216V;ENSP00000440524:I216V	.|ENSP00000420664:I216V	H|I	+|+	2|1	0|0	C1orf228|C1orf228	44942354|44942354	0.045000|0.045000	0.20229|0.20229	0.014000|0.014000	0.15608|0.15608	0.772000|0.772000	0.43724|0.43724	-0.508000|-0.508000	0.06344|0.06344	-0.898000|-0.898000	0.03906|0.03906	0.369000|0.369000	0.22263|0.22263	CAT|ATT	C1orf228	-	superfamily_ARM-type_fold	ENSG00000198520		0.537	C1orf228-013	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf228	HGNC	protein_coding	OTTHUMT00000023125.2	92	0.00	0	A	NM_001145636		45169767	45169767	+1	no_errors	ENST00000458657	ensembl	human	known	69_37n	missense	72	27.27	27	SNP	0.372	G
MROH9	80133	genome.wustl.edu	37	1	170940891	170940891	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:170940891A>G	ENST00000367758.3	+	8	582	c.483A>G	c.(481-483)atA>atG	p.I161M	MROH9_ENST00000367759.4_Missense_Mutation_p.I161M	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	161				I -> L (in Ref. 1; BAB15690). {ECO:0000305}.													TCCATTAGATAAGTGTTGATG	0.408																																						dbGAP											0													299.0	267.0	277.0					1																	170940891		1943	4137	6080	-	-	-	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.483A>G	1.37:g.170940891A>G	ENSP00000356732:p.Ile161Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I161M	ENST00000367758.3	37	c.483	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	A	6.376	0.437437	0.12104	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.67523	-0.27;2.57	5.25	3.85	0.44370	.	1.972690	0.02158	N	0.058560	T	0.29620	0.0739	N	0.08118	0	0.09310	N	0.999993	B;B	0.29862	0.249;0.259	B;B	0.34301	0.179;0.103	T	0.36841	-0.9731	10	0.46703	T	0.11	1.7354	6.3399	0.21316	0.8472:0.0:0.1528:0.0	.	161;161	F5GWX6;Q5TGP6	.;CA129_HUMAN	M	161	ENSP00000356733:I161M;ENSP00000356732:I161M	ENSP00000356732:I161M	I	+	3	3	C1orf129	169207515	0.206000	0.23470	0.254000	0.24359	0.065000	0.16274	0.413000	0.21148	0.616000	0.30141	0.533000	0.62120	ATA	C1orf129	-	superfamily_ARM-type_fold	ENSG00000117501		0.408	MROH9-001	KNOWN	basic|CCDS	protein_coding	C1orf129	HGNC	protein_coding	OTTHUMT00000099327.1	318	0.62	2	A	NM_025063		170940891	170940891	+1	no_errors	ENST00000367759	ensembl	human	known	69_37n	missense	718	17.55	153	SNP	0.678	G
NOL4L	140688	genome.wustl.edu	37	20	31041556	31041556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:31041556delG	ENST00000359676.5	-	4	538	c.396delC	c.(394-396)cccfs	p.P132fs	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		132						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CAGAGCTGTAGGGGGGGGACT	0.637																																						dbGAP											0													22.0	19.0	20.0					20																	31041556		2163	4219	6382	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.396delC	20.37:g.31041556delG	ENSP00000352704:p.Pro132fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Del	DEL	NULL	p.Y133fs	ENST00000359676.5	37	c.396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.637	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	220	0.45	1	G			31041556	31041556	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	frame_shift_del	148	30.23	65	DEL	0.034	-
CNBD2	140894	genome.wustl.edu	37	20	34618401	34618402	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:34618401_34618402delAG	ENST00000373973.3	+	12	1735_1736	c.1562_1563delAG	c.(1561-1563)aagfs	p.K521fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Del_p.K517fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	521																	CGGCCCAAGAAGAGAGAGATCT	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1562_1563delAG	20.37:g.34618407_34618408delAG	ENSP00000363084:p.Lys521fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E523fs	ENST00000373973.3	37	c.1562_1563		20																																																																																			C20orf152	-	NULL	ENSG00000149646		0.485	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf152	HGNC	protein_coding	OTTHUMT00000078960.2	273	0.00	0	AG	NM_080834		34618401	34618402	+1	no_errors	ENST00000373973	ensembl	human	known	69_37n	frame_shift_del	180	35.31	101	DEL	0.899:0.903	-
B3GALT5	10317	genome.wustl.edu	37	21	40969873	40969873	+	Intron	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:40969873C>G	ENST00000380620.4	+	2	69				C21orf88_ENST00000489821.1_5'UTR|C21orf88_ENST00000380612.4_Missense_Mutation_p.V66L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ccttgagagacgaagcacaga	0.498																																						dbGAP											0													82.0	97.0	92.0					21																	40969873		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.-523-7148C>G	21.37:g.40969873C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	NULL	p.V66L	ENST00000380620.4	37	c.196	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	C	6.985	0.551759	0.13374	.	.	ENSG00000184809	ENST00000380612	.	.	.	1.06	1.06	0.20224	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.21147	N	0.999774	.	.	.	.	.	.	T	0.37842	-0.9688	5	0.87932	D	0	.	5.4907	0.16774	0.0:1.0:0.0:0.0	.	.	.	.	L	66	.	ENSP00000369986:V66L	V	-	1	0	C21orf88	39891743	0.687000	0.27671	0.176000	0.23000	0.284000	0.27059	0.973000	0.29422	0.873000	0.35799	0.650000	0.86243	GTC	C21orf88	-	NULL	ENSG00000184809		0.498	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf88	HGNC	protein_coding	OTTHUMT00000195008.2	200	0.00	0	C	NM_033170		40969873	40969873	-1	no_errors	ENST00000380612	ensembl	human	putative	69_37n	missense	90	52.13	98	SNP	0.277	G
C21orf33	8209	genome.wustl.edu	37	21	45553575	45553575	+	5'UTR	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:45553575C>T	ENST00000291577.6	+	0	89				C21orf33_ENST00000348499.5_5'UTR|C21orf33_ENST00000427803.2_5'UTR|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33							mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GCTGTCCTCACCGCAATGGCG	0.692																																						dbGAP											0													27.0	22.0	24.0					21																	45553575		2200	4296	6496	-	-	-	SO:0001623	5_prime_UTR_variant	0			Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.-5C>T	21.37:g.45553575C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	RNA	SNP	-	NULL	ENST00000291577.6	37	NULL	CCDS33580.1	21																																																																																			C21orf33	-	-	ENSG00000160221		0.692	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C21orf33	HGNC	protein_coding	OTTHUMT00000195824.1	48	0.00	0	C	NM_004649		45553575	45553575	+1	no_errors	ENST00000493883	ensembl	human	known	69_37n	rna	33	40.00	22	SNP	0.001	T
C21orf2	755	genome.wustl.edu	37	21	45752960	45752960	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:45752960G>T	ENST00000339818.4	-	4	536	c.329C>A	c.(328-330)aCc>aAc	p.T110N	C21orf2_ENST00000397956.3_Missense_Mutation_p.T110N|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Missense_Mutation_p.T110N|AP001062.7_ENST00000448927.1_RNA	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	110	LRRCT.				cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GCGCAGCACGGTCATGCGGTA	0.677																																						dbGAP											0													12.0	14.0	13.0					21																	45752960		2194	4294	6488	-	-	-	SO:0001583	missense	0			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.329C>A	21.37:g.45752960G>T	ENSP00000344566:p.Thr110Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.T110N	ENST00000339818.4	37	c.329	CCDS13709.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018558	0.75275	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.24151	1.87;1.87;1.87	4.99	4.99	0.66335	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.052028	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58925	1.835	0.47778	D	0.999518	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.72075	0.963;0.959;0.948;0.976	T	0.14811	-1.0459	10	0.25751	T	0.34	-50.0689	15.5737	0.76359	0.0:0.0:1.0:0.0	.	110;110;110;69	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	N	110;146;110;110	ENSP00000344566:T110N;ENSP00000381047:T110N;ENSP00000317302:T110N	ENSP00000317302:T110N	T	-	2	0	C21orf2	44577388	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.058000	0.76676	2.482000	0.83794	0.655000	0.94253	ACC	C21orf2	-	smart_U2A'_phosphoprotein32A_C	ENSG00000160226		0.677	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C21orf2	HGNC	protein_coding	OTTHUMT00000195799.1	11	0.00	0	G	NM_004928		45752960	45752960	-1	no_errors	ENST00000339818	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
C22orf31	25770	genome.wustl.edu	37	22	29455033	29455033	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:29455033A>G	ENST00000216071.4	-	3	621	c.570T>C	c.(568-570)ccT>ccC	p.P190P		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	190										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TTTGGGTTTCAGGAAGCAACA	0.572																																						dbGAP											0													139.0	128.0	132.0					22																	29455033		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.570T>C	22.37:g.29455033A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV97	Silent	SNP	NULL	p.P190	ENST00000216071.4	37	c.570	CCDS13848.1	22																																																																																			C22orf31	-	NULL	ENSG00000100249		0.572	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	151	0.00	0	A	NM_015370		29455033	29455033	-1	no_errors	ENST00000216071	ensembl	human	known	69_37n	silent	101	37.65	61	SNP	0.038	G
C22orf42	150297	genome.wustl.edu	37	22	32545534	32545534	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:32545534C>T	ENST00000382097.3	-	9	821	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	C22orf42_ENST00000490640.1_5'UTR	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	250										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						acactaaagccggagaagtcc	0.458																																						dbGAP											0													63.0	58.0	60.0					22																	32545534		1327	2309	3636	-	-	-	SO:0001583	missense	0			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.749G>A	22.37:g.32545534C>T	ENSP00000371529:p.Arg250Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPH5	Missense_Mutation	SNP	NULL	p.R250Q	ENST00000382097.3	37	c.749	CCDS33639.1	22	.	.	.	.	.	.	.	.	.	.	C	5.386	0.256508	0.10185	.	.	ENSG00000205856	ENST00000382097	T	0.30981	1.51	.	.	.	.	.	.	.	.	T	0.15912	0.0383	N	0.08118	0	0.09310	N	1	P	0.47302	0.893	B	0.43360	0.417	T	0.13098	-1.0522	7	0.87932	D	0	.	.	.	.	.	250	Q6IC83	CV042_HUMAN	Q	250	ENSP00000371529:R250Q	ENSP00000371529:R250Q	R	-	2	0	C22orf42	30875534	0.017000	0.18338	0.045000	0.18777	0.045000	0.14185	0.189000	0.17037	0.064000	0.16427	0.064000	0.15345	CGG	C22orf42	-	NULL	ENSG00000205856		0.458	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	HGNC	protein_coding	OTTHUMT00000075268.2	70	0.00	0	C	NM_001010859		32545534	32545534	-1	no_errors	ENST00000382097	ensembl	human	known	69_37n	missense	64	34.02	33	SNP	0.045	T
C2CD3	26005	genome.wustl.edu	37	11	73753145	73753145	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:73753145T>C	ENST00000334126.7	-	29	5840	c.5614A>G	c.(5614-5616)Acc>Gcc	p.T1872A	C2CD3_ENST00000313663.7_Missense_Mutation_p.T1872A			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1872					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGTGATGTGGTCAGTTTGTCA	0.502																																						dbGAP											0													253.0	208.0	223.0					11																	73753145		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5614A>G	11.37:g.73753145T>C	ENSP00000334379:p.Thr1872Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.T1872A	ENST00000334126.7	37	c.5614		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.963|5.963	0.361663|0.361663	0.11296|0.11296	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000538361|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	.|T;T;T	.|0.13420	.|3.01;3.01;2.59	5.82|5.82	2.21|2.21	0.28008|0.28008	.|.	.|0.925576	.|0.09278	.|N	.|0.824155	T|T	0.14098|0.14098	0.0341|0.0341	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.30621|0.30621	-0.9972|-0.9972	5|10	.|0.33940	.|T	.|0.23	-0.117|-0.117	6.3626|6.3626	0.21437|0.21437	0.0:0.5311:0.0:0.4689|0.0:0.5311:0.0:0.4689	.|.	.|1872	.|Q4AC94-1	.|.	G|A	105|1872;1872;1853;680	.|ENSP00000334379:T1872A;ENSP00000323339:T1872A;ENSP00000388750:T680A	.|ENSP00000323339:T1872A	D|T	-|-	2|1	0|0	C2CD3|C2CD3	73430793|73430793	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.968000|0.968000	0.65278|0.65278	-0.746000|-0.746000	0.04829|0.04829	0.481000|0.481000	0.27557|0.27557	0.477000|0.477000	0.44152|0.44152	GAC|ACC	C2CD3	-	NULL	ENSG00000168014		0.502	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		470	0.00	0	T	NM_015531		73753145	73753145	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	308	36.42	177	SNP	0.089	C
C3P1	388503	genome.wustl.edu	37	19	10165983	10165983	+	RNA	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:10165983A>G	ENST00000495140.1	+	0	1611							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TCCAAGGGGAACCCAGGAAGC	0.602																																						dbGAP											0													78.0	86.0	83.0					19																	10165983		2108	4225	6333	-	-	-			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10165983A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.602	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	180	0.00	0	A	NR_027300		10165983	10165983	+1	no_errors	ENST00000495140	ensembl	human	known	69_37n	rna	46	71.27	129	SNP	0.000	G
ZGRF1	55345	genome.wustl.edu	37	4	113539094	113539094	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:113539094T>C	ENST00000505019.1	-	6	2229	c.2104A>G	c.(2104-2106)Agt>Ggt	p.S702G	C4orf21_ENST00000309071.5_Missense_Mutation_p.S702G|C4orf21_ENST00000445203.2_Missense_Mutation_p.S671G	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		702						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			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)		AATAGATTACTGTTTTCAGCA	0.323																																						dbGAP											0													44.0	47.0	46.0					4																	113539094		2202	4298	6500	-	-	-	SO:0001583	missense	0																														ENST00000505019.1:c.2104A>G	4.37:g.113539094T>C	ENSP00000424737:p.Ser702Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.S702G	ENST00000505019.1	37	c.2104		4	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259295	0.39995	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	D;T;T	0.83992	-1.79;1.71;1.3	5.37	1.46	0.22682	.	1.241160	0.05701	N	0.593987	T	0.74359	0.3706	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.59857	-0.7375	10	0.66056	D	0.02	-0.5693	5.13	0.14905	0.0:0.2323:0.1435:0.6242	.	702;702	Q86YA3;G5EA02	CD021_HUMAN;.	G	702;702;671	ENSP00000424737:S702G;ENSP00000309095:S702G;ENSP00000390505:S671G	ENSP00000309095:S702G	S	-	1	0	C4orf21	113758543	0.001000	0.12720	0.000000	0.03702	0.375000	0.29983	0.845000	0.27668	0.090000	0.17273	0.455000	0.32223	AGT	C4orf21	-	NULL	ENSG00000138658		0.323	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	112	0.00	0	T			113539094	113539094	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	missense	66	38.89	42	SNP	0.000	C
C5orf42	65250	genome.wustl.edu	37	5	37244502	37244502	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:37244502A>G	ENST00000508244.1	-	4	638	c.545T>C	c.(544-546)gTg>gCg	p.V182A	C5orf42_ENST00000425232.2_Missense_Mutation_p.V182A|C5orf42_ENST00000274258.7_5'UTR|RN7SL37P_ENST00000490461.2_RNA			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	182						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AACAGCATTCACTACAGCTTC	0.388																																						dbGAP											0													52.0	53.0	53.0					5																	37244502		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.545T>C	5.37:g.37244502A>G	ENSP00000421690:p.Val182Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.V182A	ENST00000508244.1	37	c.545	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222103	0.58560	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.27890	1.64;1.64	5.7	4.54	0.55810	.	0.187416	0.35349	U	0.003277	T	0.33673	0.0871	M	0.74881	2.28	0.80722	D	1	P	0.35628	0.513	B	0.32533	0.147	T	0.18650	-1.0330	10	0.72032	D	0.01	-2.182	11.4822	0.50333	0.9297:0.0:0.0703:0.0	.	182	E9PH94	.	A	182	ENSP00000421690:V182A;ENSP00000389014:V182A	ENSP00000389014:V182A	V	-	2	0	C5orf42	37280259	1.000000	0.71417	0.943000	0.38184	0.989000	0.77384	4.785000	0.62418	0.979000	0.38497	0.533000	0.62120	GTG	C5orf42	-	superfamily_Quino_amine_DH_bsu	ENSG00000197603		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	96	0.00	0	A	NM_023073		37244502	37244502	-1	no_errors	ENST00000425232	ensembl	human	known	69_37n	missense	73	33.64	37	SNP	0.873	G
C5orf45	51149	genome.wustl.edu	37	5	179271182	179271182	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:179271182T>C	ENST00000292586.6	-	4	351	c.261A>G	c.(259-261)ggA>ggG	p.G87G	C5orf45_ENST00000403396.2_Silent_p.G129G|C5orf45_ENST00000521333.1_Silent_p.G87G|C5orf45_ENST00000376931.2_Intron|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000518235.1_Silent_p.G87G|C5orf45_ENST00000518219.1_Silent_p.G87G|Y_RNA_ENST00000516393.1_RNA|RN7SKP150_ENST00000410516.1_RNA|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000520698.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	87										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CCTGCTGGTGTCCCACGTTTT	0.537																																						dbGAP											0													158.0	135.0	143.0					5																	179271182		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.261A>G	5.37:g.179271182T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Silent	SNP	NULL	p.G87	ENST00000292586.6	37	c.261	CCDS34319.1	5																																																																																			C5orf45	-	NULL	ENSG00000161010		0.537	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2	271	0.37	1	T	NM_016175		179271182	179271182	-1	no_errors	ENST00000292586	ensembl	human	known	69_37n	silent	189	35.05	102	SNP	0.000	C
CFAP69	79846	genome.wustl.edu	37	7	89929202	89929202	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:89929202A>G	ENST00000389297.4	+	17	2130	c.1879A>G	c.(1879-1881)Aat>Gat	p.N627D	C7orf63_ENST00000316089.8_Missense_Mutation_p.N627D|C7orf63_ENST00000497910.1_Missense_Mutation_p.N609D	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		627										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAAATTCTGTAATCTAATACT	0.323																																						dbGAP											0													37.0	35.0	36.0					7																	89929202		1792	4072	5864	-	-	-	SO:0001583	missense	0																														ENST00000389297.4:c.1879A>G	7.37:g.89929202A>G	ENSP00000373948:p.Asn627Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N627D	ENST00000389297.4	37	c.1879	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603132	0.87157	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.8	5.8	0.92144	Armadillo-type fold (1);	0.169458	0.53938	D	0.000059	T	0.66790	0.2825	M	0.78049	2.395	0.43564	D	0.995888	P;D;D	0.61697	0.597;0.99;0.99	B;P;P	0.59825	0.299;0.864;0.737	T	0.70619	-0.4822	10	0.59425	D	0.04	-20.4814	16.1537	0.81640	1.0:0.0:0.0:0.0	.	609;627;627	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	D	627;627;609;210	ENSP00000373948:N627D;ENSP00000321753:N627D;ENSP00000419549:N609D;ENSP00000391571:N210D	ENSP00000321753:N627D	N	+	1	0	C7orf63	89767138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.213000	0.71641	0.528000	0.53228	AAT	C7orf63	-	superfamily_ARM-type_fold	ENSG00000105792		0.323	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	101	0.98	1	A			89929202	89929202	+1	no_errors	ENST00000389297	ensembl	human	known	69_37n	missense	75	46.43	65	SNP	1.000	G
C7orf49	78996	genome.wustl.edu	37	7	134851534	134851534	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:134851534G>A	ENST00000393114.3	-	4	484	c.303C>T	c.(301-303)caC>caT	p.H101H	C7orf49_ENST00000430372.1_Silent_p.H100H|C7orf49_ENST00000424142.1_Silent_p.H46H|C7orf49_ENST00000459937.1_Intron|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000483029.2_Silent_p.H46H			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	101						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CAGAACTTGTGTGAGGCGACA	0.647																																						dbGAP											0													67.0	73.0	71.0					7																	134851534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.303C>T	7.37:g.134851534G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NWZ4|Q6ZNR5	Silent	SNP	NULL	p.H101	ENST00000393114.3	37	c.303	CCDS5838.2	7																																																																																			C7orf49	-	NULL	ENSG00000122783		0.647	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf49	HGNC	protein_coding	OTTHUMT00000340145.1	111	0.00	0	G	NM_024033		134851534	134851534	-1	no_errors	ENST00000393114	ensembl	human	known	69_37n	silent	74	44.78	60	SNP	0.001	A
C8orf74	203076	genome.wustl.edu	37	8	10555231	10555231	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:10555231T>C	ENST00000304519.5	+	3	393	c.364T>C	c.(364-366)Tac>Cac	p.Y122H	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	122										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CATCCGCCACTACAAACTCTA	0.602																																						dbGAP											0													166.0	173.0	171.0					8																	10555231		2108	4212	6320	-	-	-	SO:0001583	missense	0			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.364T>C	8.37:g.10555231T>C	ENSP00000307129:p.Tyr122His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUD6	Missense_Mutation	SNP	NULL	p.Y122H	ENST00000304519.5	37	c.364	CCDS47800.1	8	.	.	.	.	.	.	.	.	.	.	T	20.9	4.074116	0.76415	.	.	ENSG00000171060	ENST00000304519	T	0.46819	0.86	5.24	5.24	0.73138	.	0.341645	0.25349	N	0.031307	T	0.61540	0.2355	M	0.69823	2.125	0.28065	N	0.932801	D	0.65815	0.995	P	0.58172	0.834	T	0.61525	-0.7045	10	0.87932	D	0	-24.1717	11.5301	0.50604	0.0:0.0:0.0:1.0	.	122	Q6P047	CH074_HUMAN	H	122	ENSP00000307129:Y122H	ENSP00000307129:Y122H	Y	+	1	0	C8orf74	10592641	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.182000	0.42556	1.993000	0.58246	0.459000	0.35465	TAC	C8orf74	-	NULL	ENSG00000171060		0.602	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf74	HGNC	protein_coding	OTTHUMT00000375675.1	251	0.00	0	T	NM_001040032		10555231	10555231	+1	no_errors	ENST00000304519	ensembl	human	known	69_37n	missense	156	35.39	86	SNP	0.996	C
C9orf131	138724	genome.wustl.edu	37	9	35043030	35043030	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:35043030C>T	ENST00000312292.5	+	2	451	c.404C>T	c.(403-405)gCc>gTc	p.A135V	C9orf131_ENST00000421362.2_Missense_Mutation_p.A87V|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.A62V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	135										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCCACTCCAGCCCCACCCCAG	0.582																																						dbGAP											0													89.0	95.0	93.0					9																	35043030		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.404C>T	9.37:g.35043030C>T	ENSP00000308279:p.Ala135Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.A135V	ENST00000312292.5	37	c.404	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246653	0.59103	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.45668	1.74;1.71;1.77;0.89	4.88	0.983	0.19767	.	0.458735	0.18629	N	0.135622	T	0.28001	0.0690	L	0.32530	0.975	0.09310	N	1	B;P;P	0.46142	0.27;0.873;0.703	B;B;B	0.40101	0.225;0.319;0.319	T	0.12760	-1.0535	10	0.62326	D	0.03	0.2359	6.9218	0.24393	0.0:0.6211:0.0:0.3789	.	135;62;87	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	V	87;62;135;100	ENSP00000393683:A87V;ENSP00000346472:A62V;ENSP00000308279:A135V;ENSP00000368019:A100V	ENSP00000308279:A135V	A	+	2	0	C9orf131	35033030	0.000000	0.05858	0.015000	0.15790	0.054000	0.15201	-0.319000	0.08039	0.085000	0.17107	0.563000	0.77884	GCC	C9orf131	-	NULL	ENSG00000174038		0.582	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	218	0.46	1	C	NM_203299		35043030	35043030	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	missense	143	34.40	75	SNP	0.011	T
C9orf135	138255	genome.wustl.edu	37	9	72459539	72459539	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:72459539C>A	ENST00000377197.3	+	2	346	c.259C>A	c.(259-261)Cca>Aca	p.P87T	C9orf135_ENST00000527647.1_Missense_Mutation_p.P87T|C9orf135_ENST00000466872.2_Intron	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	87						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CGATGAATCCCCAGTAAGTAG	0.403																																						dbGAP											0													69.0	70.0	70.0					9																	72459539		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.259C>A	9.37:g.72459539C>A	ENSP00000366402:p.Pro87Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2U4|B2RN61	Missense_Mutation	SNP	NULL	p.P87T	ENST00000377197.3	37	c.259	CCDS35041.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.994|0.994	-0.693078|-0.693078	0.03303|0.03303	.|.	.|.	ENSG00000204711|ENSG00000204711	ENST00000480564|ENST00000377197;ENST00000527647	.|.	.|.	.|.	5.35|5.35	4.39|4.39	0.52855|0.52855	.|.	0.318671|0.318671	0.27526|0.27526	N|N	0.018978|0.018978	T|T	0.37073|0.37073	0.0990|0.0990	L|L	0.31926|0.31926	0.97|0.97	0.22710|0.22710	N|N	0.998825|0.998825	.|D;D	.|0.63046	.|0.977;0.992	.|P;P	.|0.59357	.|0.787;0.856	T|T	0.13953|0.13953	-1.0490|-1.0490	6|9	.|0.08381	.|T	.|0.77	-1.3297|-1.3297	10.3332|10.3332	0.43835|0.43835	0.2091:0.7909:0.0:0.0|0.2091:0.7909:0.0:0.0	.|.	.|87;87	.|A7E2U4;Q5VTT2	.|.;CI135_HUMAN	H|T	60|87	.|.	.|ENSP00000366402:P87T	P|P	+|+	2|1	0|0	C9orf135|C9orf135	71649359|71649359	0.008000|0.008000	0.16893|0.16893	0.994000|0.994000	0.49952|0.49952	0.147000|0.147000	0.21601|0.21601	0.321000|0.321000	0.19558|0.19558	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CCC|CCA	C9orf135	-	NULL	ENSG00000204711		0.403	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	109	0.00	0	C	NM_001010940		72459539	72459539	+1	no_errors	ENST00000377197	ensembl	human	known	69_37n	missense	76	41.09	53	SNP	0.424	A
CACHD1	57685	genome.wustl.edu	37	1	65143941	65143942	+	Frame_Shift_Ins	INS	-	-	G	rs537732470|rs201583845	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:65143941_65143942insG	ENST00000371073.2	+	23	3192_3193	c.3192_3193insG	c.(3193-3195)gggfs	p.G1065fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.G1014fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1065					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGAATGCTTCGGGGGGATTGT	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3198dupG	1.37:g.65143947_65143947dupG	ENSP00000360113:p.Gly1065fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Frame_Shift_Ins	INS	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.I1066fs	ENST00000371073.2	37	c.3192_3193		1																																																																																			CACHD1	-	NULL	ENSG00000158966		0.475	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		314	0.00	0	-	NM_020925		65143941	65143942	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	frame_shift_ins	223	24.92	74	INS	0.426:1.000	G
CACNA1A	773	genome.wustl.edu	37	19	13397466	13397466	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:13397466C>G	ENST00000360228.5	-	20	3403	c.3404G>C	c.(3403-3405)gGc>gCc	p.G1135A	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G1136A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1136					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGGGGGGGCCGGGATTGGA	0.662																																						dbGAP											0													31.0	34.0	33.0					19																	13397466		1892	4095	5987	-	-	-	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3404G>C	19.37:g.13397466C>G	ENSP00000353362:p.Gly1135Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.G1135A	ENST00000360228.5	37	c.3404	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794395	0.50102	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95342	-3.68	5.08	5.08	0.68730	.	1.253530	0.05697	N	0.593354	D	0.93996	0.8077	N	0.14661	0.345	0.31064	N	0.713851	P;D;B	0.65815	0.696;0.995;0.001	B;D;B	0.63033	0.254;0.91;0.003	D	0.85738	0.1335	10	0.09084	T	0.74	.	17.2377	0.87004	0.0:1.0:0.0:0.0	.	1136;1139;1135	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	A	1135;1139;1136;1136	ENSP00000353362:G1135A	ENSP00000317661:G1136A	G	-	2	0	CACNA1A	13258466	0.548000	0.26473	0.986000	0.45419	0.894000	0.52154	1.532000	0.36029	2.369000	0.80426	0.542000	0.68232	GGC	CACNA1A	-	NULL	ENSG00000141837		0.662	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	157	0.00	0	C	NM_000068		13397466	13397466	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	missense	65	32.29	31	SNP	0.996	G
CACNA1B	774	genome.wustl.edu	37	9	140919538	140919538	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:140919538T>C	ENST00000371372.1	+	20	3345	c.3200T>C	c.(3199-3201)aTg>aCg	p.M1067T	CACNA1B_ENST00000277549.5_Missense_Mutation_p.M259T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.M1068T|CACNA1B_ENST00000371367.5_Missense_Mutation_p.M51T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.M1067T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.M1067T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.M1068T|CACNA1B_ENST00000545473.1_Missense_Mutation_p.M51T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1067					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCACTCGCATGGGCAGTCAG	0.582																																						dbGAP											0													72.0	81.0	78.0					9																	140919538		2165	4258	6423	-	-	-	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3200T>C	9.37:g.140919538T>C	ENSP00000360423:p.Met1067Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.M1068T	ENST00000371372.1	37	c.3203	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825804	0.32237	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371367;ENST00000545473	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.02	5.02	0.67125	.	12.423600	0.00166	N	0.000001	T	0.39332	0.1074	L	0.37630	1.12	0.41967	D	0.990734	B;B;B	0.22414	0.033;0.024;0.069	B;B;B	0.19148	0.024;0.024;0.024	T	0.17653	-1.0362	10	0.09338	T	0.73	.	14.741	0.69455	0.0:0.0:0.0:1.0	.	1067;1068;1067	B1AQK4;B1AQK7;B1AQK6	.;.;.	T	1067;1067;259;1067;1068;1068;51;51	ENSP00000360423:M1067T;ENSP00000277551:M1067T;ENSP00000277549:M259T;ENSP00000360414:M1067T;ENSP00000360408:M1068T;ENSP00000360406:M1068T;ENSP00000360418:M51T;ENSP00000441232:M51T	ENSP00000277549:M259T	M	+	2	0	CACNA1B	140039359	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.436000	0.59948	1.887000	0.54652	0.459000	0.35465	ATG	CACNA1B	-	NULL	ENSG00000148408		0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	113	0.00	0	T	NM_000718		140919538	140919538	+1	no_errors	ENST00000371355	ensembl	human	known	69_37n	missense	68	44.26	54	SNP	1.000	C
CACNA1C	775	genome.wustl.edu	37	12	2775892	2775892	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:2775892C>T	ENST00000347598.4	+	39	4711	c.4711C>T	c.(4711-4713)Cgg>Tgg	p.R1571W	CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1548W|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1543W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1551W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1512W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1510W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1523W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1545W|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1512W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1540W	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1571					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCTCCGGCGGATTCAGCC	0.592																																						dbGAP											0													30.0	33.0	32.0					12																	2775892		1957	4152	6109	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4711C>T	12.37:g.2775892C>T	ENSP00000266376:p.Arg1571Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1523W	ENST00000347598.4	37	c.4567	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835586	0.71373	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96651	-4.02;-4.02;-4.01;-4.0;-4.01;-4.04;-3.94;-3.97;-4.02;-3.93;-3.94;-4.02;-4.07;-3.93;-3.87;-4.08;-4.04;-4.01;-4.03;-3.96;-4.02;-4.08	4.64	1.54	0.23209	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.82630	2.6	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.997;0.998;0.999;0.997;0.999;0.998;0.999;0.999;0.994;0.999;0.996;0.998;0.999;0.993;0.991;0.993;0.999;0.999;0.999;0.996;0.999;0.999;0.993;0.996	D	0.98078	1.0402	10	0.87932	D	0	.	14.0345	0.64636	0.3854:0.6146:0.0:0.0	.	214;1545;1520;1571;1523;1523;1523;1540;1551;1523;1543;1523;1483;1571;1523;1523;1523;1512;1510;1512;1512;1523;1523;1523;1523	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	1548;1523;1523;1551;1523;1523;1523;1512;1523;1571;1543;1523;1545;1540;1523;1510;1523;1523;1523;1523;1523;1512;1353	ENSP00000336982:R1548W;ENSP00000382563:R1523W;ENSP00000382552:R1523W;ENSP00000382547:R1551W;ENSP00000382506:R1523W;ENSP00000382530:R1523W;ENSP00000382546:R1523W;ENSP00000382500:R1512W;ENSP00000382549:R1523W;ENSP00000266376:R1571W;ENSP00000382515:R1543W;ENSP00000382510:R1523W;ENSP00000341092:R1545W;ENSP00000382537:R1540W;ENSP00000329877:R1523W;ENSP00000382557:R1510W;ENSP00000385724:R1523W;ENSP00000382512:R1523W;ENSP00000382542:R1523W;ENSP00000382526:R1523W;ENSP00000385896:R1523W;ENSP00000382504:R1512W	ENSP00000323129:R1353W	R	+	1	2	CACNA1C	2646153	0.950000	0.32346	0.988000	0.46212	0.974000	0.67602	1.345000	0.33953	0.656000	0.30886	0.655000	0.94253	CGG	CACNA1C	-	NULL	ENSG00000151067		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	119	0.00	0	C	NM_000719		2775892	2775892	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	83	35.16	45	SNP	0.997	T
CACNA1E	777	genome.wustl.edu	37	1	181705572	181705572	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:181705572T>C	ENST00000367573.2	+	22	3422		c.e22+2		CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000526775.1_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCAACCCGTAAGCCACCCT	0.587																																						dbGAP											0													70.0	85.0	80.0					1																	181705572		2134	4230	6364	-	-	-	SO:0001630	splice_region_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3422+2T>C	1.37:g.181705572T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	-	e22+2	ENST00000367573.2	37	c.3422+2	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733541	0.89482	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8629	0.70394	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1E	179972195	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.837000	0.86796	1.990000	0.58119	0.454000	0.30748	.	CACNA1E	-	-	ENSG00000198216		0.587	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	304	0.33	1	T	NM_000721	Intron	181705572	181705572	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	splice_site	571	19.46	138	SNP	1.000	C
CACNA1F	778	genome.wustl.edu	37	X	49088141	49088141	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:49088141T>C	ENST00000376265.2	-	2	335	c.274A>G	c.(274-276)Aag>Gag	p.K92E	CACNA1F_ENST00000323022.5_Splice_Site_p.K92E|CACNA1F_ENST00000376251.1_Splice_Site_p.K27E	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	92					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGATGCTTCCACTCCACG	0.617																																						dbGAP											0													78.0	66.0	70.0					X																	49088141		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.275+1A>G	X.37:g.49088141T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.K92E	ENST00000376265.2	37	c.274	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	T	19.24	3.788672	0.70337	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;T;T	0.97620	-4.46;0.59;0.59	5.15	5.15	0.70609	.	2.218560	0.02995	N	0.147287	D	0.98670	0.9554	M	0.81239	2.535	0.49299	D	0.999777	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.92188	0.5757	10	0.72032	D	0.01	.	13.0703	0.59057	0.0:0.0:0.0:1.0	.	92;92	F5CIQ9;O60840	.;CAC1F_HUMAN	E	27;92;92	ENSP00000365427:K27E;ENSP00000321618:K92E;ENSP00000365441:K92E	ENSP00000321618:K92E	K	-	1	0	CACNA1F	48975085	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.746000	0.85057	1.727000	0.51537	0.356000	0.21956	AAG	CACNA1F	-	NULL	ENSG00000102001		0.617	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	165	0.60	1	T	NM_005183	Missense_Mutation	49088141	49088141	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	missense	94	37.33	56	SNP	1.000	C
CACNA1H	8912	genome.wustl.edu	37	16	1261574	1261574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:1261574C>T	ENST00000348261.5	+	23	4692	c.4444C>T	c.(4444-4446)Cga>Tga	p.R1482*	CACNA1H_ENST00000565831.1_Nonsense_Mutation_p.R1482*|CACNA1H_ENST00000358590.4_Nonsense_Mutation_p.R1482*	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1482					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCGCTGGGTGCGACGCAAGTA	0.677																																						dbGAP											0													24.0	28.0	27.0					16																	1261574		1977	4131	6108	-	-	-	SO:0001587	stop_gained	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4444C>T	16.37:g.1261574C>T	ENSP00000334198:p.Arg1482*	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R1482*	ENST00000348261.5	37	c.4444	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925623	0.92319	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	3.99	0.648	0.17801	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9206	0.63928	0.3949:0.6051:0.0:0.0	.	.	.	.	X	1482	.	ENSP00000334198:R1482X	R	+	1	2	CACNA1H	1201575	0.133000	0.22466	0.992000	0.48379	0.799000	0.45148	1.282000	0.33226	-0.182000	0.10602	-2.067000	0.00394	CGA	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.677	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	48	0.00	0	C	NM_001005407		1261574	1261574	+1	no_errors	ENST00000348261	ensembl	human	known	69_37n	nonsense	24	42.86	18	SNP	0.929	T
CACNA1S	779	genome.wustl.edu	37	1	201012645	201012645	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:201012645C>T	ENST00000362061.3	-	40	5038	c.4812G>A	c.(4810-4812)ctG>ctA	p.L1604L	CACNA1S_ENST00000367338.3_Silent_p.L1585L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1604					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTGGCCAAACAGGCCTCCAG	0.592											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													53.0	56.0	55.0					1																	201012645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4812G>A	1.37:g.201012645C>T		Somatic	2118	WXS	Illumina GAIIx	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.L1604	ENST00000362061.3	37	c.4812	CCDS1407.1	1																																																																																			CACNA1S	-	NULL	ENSG00000081248		0.592	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	177	0.00	0	C	NM_000069		201012645	201012645	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	silent	284	23.24	86	SNP	0.989	T
CACNG7	59284	genome.wustl.edu	37	19	54445489	54445489	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:54445489A>G	ENST00000391767.1	+	6	982	c.770A>G	c.(769-771)aAc>aGc	p.N257S	CACNG7_ENST00000222212.2_Missense_Mutation_p.N257S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	257				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATGACGCAGAACTACCCTCCC	0.687																																						dbGAP											0													140.0	149.0	146.0					19																	54445489		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.770A>G	19.37:g.54445489A>G	ENSP00000375647:p.Asn257Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.N257S	ENST00000391767.1	37	c.770	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290531	0.23564	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	T;T	0.62364	0.03;0.03	4.21	4.21	0.49690	.	0.563567	0.15016	N	0.285287	T	0.39759	0.1090	N	0.12182	0.205	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.17684	-1.0361	10	0.07990	T	0.79	-29.1089	11.5489	0.50708	1.0:0.0:0.0:0.0	.	257	P62955	CCG7_HUMAN	S	257	ENSP00000375647:N257S;ENSP00000222212:N257S	ENSP00000222212:N257S	N	+	2	0	CACNG7	59137301	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.088000	0.41663	1.688000	0.51068	0.402000	0.26972	AAC	CACNG7	-	NULL	ENSG00000105605		0.687	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	147	0.00	0	A			54445489	54445489	+1	no_errors	ENST00000222212	ensembl	human	known	69_37n	missense	118	24.53	39	SNP	1.000	G
CADPS	8618	genome.wustl.edu	37	3	62739237	62739237	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:62739237G>A	ENST00000383710.4	-	3	1116	c.767C>T	c.(766-768)gCc>gTc	p.A256V	CADPS_ENST00000490353.2_Missense_Mutation_p.A256V|CADPS_ENST00000283269.9_Missense_Mutation_p.A256V|CADPS_ENST00000357948.3_Missense_Mutation_p.A256V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	256					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGTCATCCGGGCCTGCTGCTT	0.547																																						dbGAP											0													63.0	65.0	64.0					3																	62739237		2203	4300	6503	-	-	-	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.767C>T	3.37:g.62739237G>A	ENSP00000373215:p.Ala256Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A256V	ENST00000383710.4	37	c.767	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835818	0.50951	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.88	5.88	0.94601	.	0.119748	0.64402	D	0.000013	T	0.80706	0.4674	N	0.14661	0.345	0.48975	D	0.999739	B;P;B	0.35272	0.013;0.493;0.085	B;B;B	0.41813	0.004;0.367;0.026	T	0.78695	-0.2104	10	0.37606	T	0.19	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	256;256;256	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	V	256	ENSP00000373215:A256V;ENSP00000350632:A256V;ENSP00000283269:A256V;ENSP00000418736:A256V	ENSP00000283269:A256V	A	-	2	0	CADPS	62714277	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.981000	0.70524	2.789000	0.95967	0.655000	0.94253	GCC	CADPS	-	NULL	ENSG00000163618		0.547	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	69	0.00	0	G	NM_003716, NM_183393, NM_183394		62739237	62739237	-1	no_errors	ENST00000383710	ensembl	human	known	69_37n	missense	64	34.95	36	SNP	1.000	A
CAMK1G	57172	genome.wustl.edu	37	1	209785393	209785393	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:209785393G>A	ENST00000009105.1	+	11	1417	c.1172G>A	c.(1171-1173)tGc>tAc	p.C391Y	CAMK1G_ENST00000361322.2_Missense_Mutation_p.C391Y			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	391						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCCCTCAACTGCCTGGTCAAT	0.672																																					Ovarian(163;530 1939 9680 28669 48710)	dbGAP											0													58.0	58.0	58.0					1																	209785393		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1172G>A	1.37:g.209785393G>A	ENSP00000009105:p.Cys391Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UH5|Q9Y3J7	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	p.C391Y	ENST00000009105.1	37	c.1172	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280347	0.40294	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000007	T	0.43478	0.1249	N	0.19112	0.55	0.30132	N	0.80475	P;P	0.43701	0.815;0.718	B;B	0.37304	0.246;0.125	T	0.44498	-0.9324	10	0.08599	T	0.76	.	8.4923	0.33108	0.0815:0.1678:0.7507:0.0	.	391;391	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	Y	391	ENSP00000009105:C391Y;ENSP00000354861:C391Y	ENSP00000009105:C391Y	C	+	2	0	CAMK1G	207852016	0.941000	0.31946	1.000000	0.80357	0.981000	0.71138	0.248000	0.18198	2.648000	0.89879	0.650000	0.86243	TGC	CAMK1G	-	NULL	ENSG00000008118		0.672	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1	51	0.00	0	G	NM_020439		209785393	209785393	+1	no_errors	ENST00000009105	ensembl	human	known	69_37n	missense	107	17.42	23	SNP	1.000	A
CAMK2D	817	genome.wustl.edu	37	4	114680565	114680566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:114680565_114680566insC	ENST00000342666.5	-	2	69_70	c.70_71insG	c.(70-72)gcafs	p.A24fs	CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000505990.1_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000418639.2_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000508738.1_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000296402.5_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000514328.1_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000511664.1_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000429180.1_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000454265.2_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000515496.1_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000394524.3_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000379773.2_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000394522.3_Frame_Shift_Ins_p.A24fs|CAMK2D_ENST00000394526.2_Frame_Shift_Ins_p.A24fs			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CACTGAGAATGCCCCCCTGGAA	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.71dupG	4.37:g.114680571_114680571dupC	ENSP00000339740:p.Ala24fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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	p.A24fs	ENST00000342666.5	37	c.71_70	CCDS3703.1	4																																																																																			CAMK2D	-	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	ENSG00000145349		0.322	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	100	0.00	0	-			114680565	114680566	-1	no_errors	ENST00000454265	ensembl	human	known	69_37n	frame_shift_ins	97	28.15	38	INS	1.000:1.000	C
CAMKMT	79823	genome.wustl.edu	37	2	44933460	44933460	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:44933460A>G	ENST00000378494.3	+	5	516	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	158						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						GGGTGGCATGACATGCTTGGC	0.473																																						dbGAP											0													178.0	160.0	166.0					2																	44933460		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.472A>G	2.37:g.44933460A>G	ENSP00000367755:p.Thr158Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.T158A	ENST00000378494.3	37	c.472	CCDS1820.1	2	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516478	0.44763	.	.	ENSG00000143919	ENST00000378494	T	0.08807	3.05	5.12	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.04363	0.0120	N	0.16166	0.38	0.80722	D	1	B	0.19817	0.039	B	0.19946	0.027	T	0.22626	-1.0211	10	0.02654	T	1	-3.9422	10.7231	0.46052	0.9257:0.0:0.0743:0.0	.	158	Q7Z624	CMKMT_HUMAN	A	158	ENSP00000367755:T158A	ENSP00000367755:T158A	T	+	1	0	CAMKMT	44786964	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.413000	0.90235	0.965000	0.38133	0.533000	0.62120	ACA	CAMKMT	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000143919		0.473	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKMT	HGNC	protein_coding	OTTHUMT00000250678.2	672	0.15	1	A	NM_024766		44933460	44933460	+1	no_errors	ENST00000378494	ensembl	human	known	69_37n	missense	442	36.95	259	SNP	1.000	G
CAMSAP1	157922	genome.wustl.edu	37	9	138719421	138719421	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:138719421A>G	ENST00000389532.4	-	8	1119	c.1055T>C	c.(1054-1056)gTg>gCg	p.V352A	CAMSAP1_ENST00000483991.1_5'Flank|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V74A|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V363A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	352					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGGTGTAACACTGTTTTCGC	0.507																																						dbGAP											0													109.0	76.0	87.0					9																	138719421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1055T>C	9.37:g.138719421A>G	ENSP00000374183:p.Val352Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.V363A	ENST00000389532.4	37	c.1088	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660801	0.29515	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15372	2.43;2.45;2.43	5.0	0.031	0.14169	.	0.285799	0.33161	N	0.005218	T	0.11239	0.0274	L	0.28504	0.86	0.19775	N	0.999957	B;B	0.22146	0.065;0.029	B;B	0.18871	0.007;0.023	T	0.19712	-1.0297	10	0.87932	D	0	-24.2932	8.9287	0.35657	0.6188:0.0:0.3812:0.0	.	352;363	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	A	352;74;363	ENSP00000374183:V352A;ENSP00000312463:V74A;ENSP00000386420:V363A	ENSP00000312463:V74A	V	-	2	0	CAMSAP1	137859242	0.006000	0.16342	0.019000	0.16419	0.993000	0.82548	1.819000	0.39022	-0.242000	0.09667	0.533000	0.62120	GTG	CAMSAP1	-	NULL	ENSG00000130559		0.507	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	155	0.00	0	A	XM_351857		138719421	138719421	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	102	37.42	61	SNP	0.066	G
CAPZB	832	genome.wustl.edu	37	1	19683162	19683162	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:19683162G>A	ENST00000375142.1	-	6	601	c.555C>T	c.(553-555)ggC>ggT	p.G185G	CAPZB_ENST00000375144.1_Silent_p.G173G|CAPZB_ENST00000264202.6_Silent_p.G185G|CAPZB_ENST00000401084.2_Silent_p.G185G|CAPZB_ENST00000264203.3_Silent_p.G211G|CAPZB_ENST00000433834.1_Silent_p.G214G	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	185					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		GGTTCATGGTGCCAGAGCCAG	0.577																																						dbGAP											0													184.0	195.0	191.0					1																	19683162		2117	4238	6355	-	-	-	SO:0001819	synonymous_variant	0			U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.555C>T	1.37:g.19683162G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta	p.G214	ENST00000375142.1	37	c.642	CCDS55579.1	1																																																																																			CAPZB	-	pfam_WASH_F-actin_cap_beta	ENSG00000077549		0.577	CAPZB-003	KNOWN	basic|CCDS	protein_coding	CAPZB	HGNC	protein_coding	OTTHUMT00000007260.1	209	0.00	0	G			19683162	19683162	-1	no_errors	ENST00000433834	ensembl	human	known	69_37n	silent	139	40.34	96	SNP	0.983	A
CARS	833	genome.wustl.edu	37	11	3023228	3023228	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:3023228G>A	ENST00000397111.5	-	21	2329	c.2084C>T	c.(2083-2085)aCc>aTc	p.T695I	CARS_ENST00000397114.3_Missense_Mutation_p.T685I|CARS_ENST00000380525.4_Missense_Mutation_p.T778I|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.T695I|CARS_ENST00000401769.3_Missense_Mutation_p.T708I			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	695					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GTATTTGTCGGTTTCTGACAA	0.468			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													242.0	258.0	253.0					11																	3023228		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2084C>T	11.37:g.3023228G>A	ENSP00000380300:p.Thr695Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.T778I	ENST00000397111.5	37	c.2333	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350802	0.24512	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.47177	0.85;0.85;0.87;0.85;0.86	4.27	-6.56	0.01848	.	0.877311	0.10094	N	0.716870	T	0.44932	0.1317	M	0.78049	2.395	0.09310	N	1	B;B;B;B;B;B	0.28419	0.195;0.065;0.011;0.211;0.016;0.028	B;B;B;B;B;B	0.33690	0.088;0.04;0.027;0.168;0.025;0.04	T	0.52646	-0.8548	10	0.66056	D	0.02	-0.013	7.7182	0.28717	0.1925:0.1161:0.6019:0.0894	.	708;778;695;695;778;685	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	I	778;695;695;685;708	ENSP00000369897:T778I;ENSP00000380300:T695I;ENSP00000278224:T695I;ENSP00000380303:T685I;ENSP00000384069:T708I	ENSP00000278224:T695I	T	-	2	0	CARS	2979804	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-0.429000	0.06982	-1.205000	0.02645	-0.305000	0.09177	ACC	CARS	-	NULL	ENSG00000110619		0.468	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	178	0.00	0	G	NM_001751		3023228	3023228	-1	no_errors	ENST00000380525	ensembl	human	known	69_37n	missense	113	33.53	57	SNP	0.000	A
CASC5	57082	genome.wustl.edu	37	15	40914893	40914893	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:40914893A>G	ENST00000346991.5	+	11	2899	c.2509A>G	c.(2509-2511)Agt>Ggt	p.S837G	CASC5_ENST00000399668.2_Missense_Mutation_p.S811G|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	837					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATGTGGTAAAAGTCCCATAGA	0.343																																						dbGAP											0													62.0	56.0	58.0					15																	40914893		1810	4075	5885	-	-	-	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2509A>G	15.37:g.40914893A>G	ENSP00000335463:p.Ser837Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.S837G	ENST00000346991.5	37	c.2509	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	A	9.261	1.043238	0.19748	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05513	3.43;3.43	4.2	-1.09	0.09904	.	1.005260	0.08011	N	0.990421	T	0.05410	0.0143	L	0.43152	1.355	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.002;0.003	T	0.44967	-0.9293	10	0.54805	T	0.06	.	1.2779	0.02034	0.3883:0.151:0.3135:0.1473	.	811;837;811	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	837;811;811	ENSP00000335463:S837G;ENSP00000382576:S811G	ENSP00000260369:S811G	S	+	1	0	CASC5	38702185	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.714000	0.25808	-0.403000	0.07622	-1.272000	0.01410	AGT	CASC5	-	NULL	ENSG00000137812		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	136	0.73	1	A	NM_144508		40914893	40914893	+1	no_errors	ENST00000346991	ensembl	human	known	69_37n	missense	107	37.79	65	SNP	0.000	G
CASKIN2	57513	genome.wustl.edu	37	17	73498155	73498156	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:73498155_73498156delCT	ENST00000321617.3	-	18	3585_3586	c.2999_3000delAG	c.(2998-3000)gagfs	p.E1000fs	CASKIN2_ENST00000433559.2_Frame_Shift_Del_p.E918fs	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1000	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGCAGTGGCTCTCTCTCCCG	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2999_3000delAG	17.37:g.73498161_73498162delCT	ENSP00000325355:p.Glu1000fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain	p.E1000fs	ENST00000321617.3	37	c.3000_2999	CCDS11723.1	17																																																																																			CASKIN2	-	NULL	ENSG00000177303		0.678	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	83	0.00	0	CT	NM_020753		73498155	73498156	-1	no_errors	ENST00000321617	ensembl	human	known	69_37n	frame_shift_del	141	12.88	21	DEL	1.000:1.000	-
CASP8	841	genome.wustl.edu	37	2	202131302	202131302	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:202131302G>A	ENST00000432109.2	+	3	282	c.93G>A	c.(91-93)ccG>ccA	p.P31P	CASP8_ENST00000392258.3_Silent_p.P31P|CASP8_ENST00000323492.7_Silent_p.P31P|CASP8_ENST00000264275.5_Silent_p.P31P|CASP8_ENST00000358485.4_Silent_p.P90P|CASP8_ENST00000392259.2_Silent_p.P31P|CASP8_ENST00000392266.3_Silent_p.P31P|CASP8_ENST00000264274.9_Silent_p.P31P	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	31	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ACTACATTCCGCAAAGGAAGC	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													75.0	76.0	75.0					2																	202131302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.93G>A	2.37:g.202131302G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Silent	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.P90	ENST00000432109.2	37	c.270	CCDS2342.1	2																																																																																			CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	ENSG00000064012		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	172	0.58	1	G	NM_001228		202131302	202131302	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	silent	110	40.54	75	SNP	0.000	A
CAV1	857	genome.wustl.edu	37	7	116166683	116166683	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:116166683C>T	ENST00000341049.2	+	2	413	c.135C>T	c.(133-135)caC>caT	p.H45H	CAV1_ENST00000393470.1_Silent_p.H34H|CAV1_ENST00000393467.1_Silent_p.H14H|CAV1_ENST00000405348.1_Silent_p.H14H|CAV1_ENST00000393468.1_Silent_p.H14H	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	45					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			ACGACGCGCACACCAAGGAGA	0.572											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													244.0	166.0	193.0					7																	116166683		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"""caveolin 1, caveolae protein, 22kD"""	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.135C>T	7.37:g.116166683C>T		Somatic	1471	WXS	Illumina GAIIx	Phase_IV	Q9UGP1|Q9UNG1|Q9UQH6	Silent	SNP	pfam_Caveolin	p.H45	ENST00000341049.2	37	c.135	CCDS5767.1	7																																																																																			CAV1	-	pfam_Caveolin	ENSG00000105974		0.572	CAV1-001	KNOWN	basic|CCDS	protein_coding	CAV1	HGNC	protein_coding	OTTHUMT00000059734.4	180	0.00	0	C	NM_001753		116166683	116166683	+1	no_errors	ENST00000341049	ensembl	human	known	69_37n	silent	145	35.56	80	SNP	1.000	T
CBWD3	445571	genome.wustl.edu	37	9	70871838	70871838	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:70871838T>C	ENST00000360171.6	+	5	983	c.432T>C	c.(430-432)ggT>ggC	p.G144G	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	144							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TATTTTCACGTGCAGTGGCTT	0.284																																						dbGAP											0													25.0	31.0	29.0					9																	70871838		2190	4253	6443	-	-	-	SO:0001630	splice_region_variant	0			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.431-1T>C	9.37:g.70871838T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNG9|Q6VB91	Silent	SNP	pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.G144	ENST00000360171.6	37	c.432	CCDS35038.1	9																																																																																			CBWD3	-	pfam_Cbl_biosynth_CobW-like	ENSG00000196873		0.284	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD3	HGNC	protein_coding	OTTHUMT00000052526.1	435	0.00	0	T	NM_201453	Silent	70871838	70871838	+1	no_errors	ENST00000360171	ensembl	human	known	69_37n	silent	408	17.41	86	SNP	1.000	C
CC2D2A	57545	genome.wustl.edu	37	4	15482442	15482442	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:15482442G>T	ENST00000503292.1	+	5	418	c.238G>T	c.(238-240)Ggc>Tgc	p.G80C	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000515124.1_Missense_Mutation_p.G80C|CC2D2A_ENST00000503658.1_Missense_Mutation_p.R115M|CC2D2A_ENST00000507954.1_Missense_Mutation_p.G80C|CC2D2A_ENST00000438599.2_Missense_Mutation_p.R115M|CC2D2A_ENST00000424120.1_Missense_Mutation_p.G80C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.G31C|CC2D2A_ENST00000511544.1_Missense_Mutation_p.R115M|CC2D2A_ENST00000413206.1_Missense_Mutation_p.G80C	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	80					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGTCCGGAGAGGCCCACGGAG	0.542																																						dbGAP											0													31.0	32.0	32.0					4																	15482442		1898	4123	6021	-	-	-	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.238G>T	4.37:g.15482442G>T	ENSP00000421809:p.Gly80Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.G80C	ENST00000503292.1	37	c.238	CCDS47026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.931487|3.931487	0.73442|0.73442	.|.	.|.	ENSG00000048342|ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000507954;ENST00000515124;ENST00000503292;ENST00000389652|ENST00000438599;ENST00000511544;ENST00000503658	T;T;T;T;T;T;T|T;T;T	0.26067|0.69926	1.76;1.76;1.76;1.76;1.76;1.76;1.76|-0.44;-0.44;-0.44	4.96|4.96	4.11|4.11	0.48088|0.48088	.|.	0.098471|.	0.36134|.	N|.	0.002766|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.99999|0.99999	D;D;D;D|D;D	0.89917|0.71674	1.0;1.0;1.0;1.0|0.998;0.997	D;D;D;D|P;P	0.91635|0.61874	0.976;0.976;0.999;0.998|0.895;0.821	T|T	0.64521|0.64521	-0.6388|-0.6388	10|9	0.49607|0.87932	T|D	0.09|0	.|.	8.7813|8.7813	0.34794|0.34794	0.1009:0.0:0.8991:0.0|0.1009:0.0:0.8991:0.0	.|.	80;31;80;80|76;115	Q9P2K1;Q9P2K1-2;C9JKY6;D6RB72|Q8WVL8;E7EP21	C2D2A_HUMAN;.;.;.|.;.	C|M	80;80;31;31;80;80;80;80;31|115	ENSP00000403465:G80C;ENSP00000398391:G80C;ENSP00000422875:G80C;ENSP00000427221:G80C;ENSP00000424368:G80C;ENSP00000421809:G80C;ENSP00000374303:G31C|ENSP00000401154:R115M;ENSP00000426109:R115M;ENSP00000426846:R115M	ENSP00000374303:G31C|ENSP00000401154:R115M	G|R	+|+	1|2	0|0	CC2D2A|CC2D2A	15091540|15091540	0.952000|0.952000	0.32445|0.32445	0.482000|0.482000	0.27366|0.27366	0.559000|0.559000	0.35586|0.35586	2.768000|2.768000	0.47645|0.47645	1.311000|1.311000	0.45024|0.45024	0.573000|0.573000	0.79308|0.79308	GGC|AGG	CC2D2A	-	NULL	ENSG00000048342		0.542	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	76	0.00	0	G	NM_001080522		15482442	15482442	+1	no_errors	ENST00000413206	ensembl	human	known	69_37n	missense	46	41.03	32	SNP	0.480	T
CCDC120	90060	genome.wustl.edu	37	X	48921410	48921410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:48921410delC	ENST00000376396.3	+	5	421	c.202delC	c.(202-204)cccfs	p.P69fs	CCDC120_ENST00000496529.2_Frame_Shift_Del_p.P69fs|CCDC120_ENST00000597275.1_Frame_Shift_Del_p.P69fs|CCDC120_ENST00000422185.2_Frame_Shift_Del_p.P69fs|CCDC120_ENST00000603986.1_Frame_Shift_Del_p.P104fs|CCDC120_ENST00000536628.2_Frame_Shift_Del_p.P57fs	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	69										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						TGGCCAGCTGCCCCCTGAGTG	0.637																																						dbGAP											0													25.0	24.0	24.0					X																	48921410		2202	4295	6497	-	-	-	SO:0001589	frameshift_variant	0			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.202delC	X.37:g.48921410delC	ENSP00000365577:p.Pro69fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC1|B4DTU2|F5GZU4	Frame_Shift_Del	DEL	pfam_DUF3338	p.P69fs	ENST00000376396.3	37	c.202	CCDS14316.1	X																																																																																			CCDC120	-	pfam_DUF3338	ENSG00000147144		0.637	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	34	0.00	0	C	NM_033626		48921410	48921410	+1	no_errors	ENST00000422185	ensembl	human	known	69_37n	frame_shift_del	24	30.77	12	DEL	1.000	-
CCDC14	64770	genome.wustl.edu	37	3	123650066	123650066	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:123650066A>G	ENST00000488653.2	-	12	1895	c.1805T>C	c.(1804-1806)cTa>cCa	p.L602P	CCDC14_ENST00000433542.2_Missense_Mutation_p.L561P|CCDC14_ENST00000489746.1_Missense_Mutation_p.L402P|CCDC14_ENST00000485727.1_Missense_Mutation_p.L402P|CCDC14_ENST00000310351.4_Missense_Mutation_p.L442P|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	602					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CACATTGACTAGGGCTTCCTC	0.368																																						dbGAP											0													57.0	55.0	56.0					3																	123650066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1805T>C	3.37:g.123650066A>G	ENSP00000420180:p.Leu602Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.L602P	ENST00000488653.2	37	c.1805		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.77|14.77	2.633735|2.633735	0.47049|0.47049	.|.	.|.	ENSG00000175455|ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247|ENST00000479903	T;T;T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36|.	5.05|5.05	3.86|3.86	0.44501|0.44501	.|.	0.424757|.	0.22355|.	N|.	0.061143|.	T|.	0.62356|.	0.2421|.	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.75484|.	0.986;0.986;0.986;0.986|.	T|.	0.59402|.	-0.7461|.	10|.	0.32370|.	T|.	0.25|.	.|.	9.8438|9.8438	0.41015|0.41015	0.8473:0.0:0.0:0.1527|0.8473:0.0:0.0:0.1527	.|.	602;561;402;443|.	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5|.	CCD14_HUMAN;.;.;.|.	P|Q	602;442;402;402;561;583;243|184	ENSP00000420180:L602P;ENSP00000312031:L442P;ENSP00000418002:L402P;ENSP00000418403:L402P;ENSP00000395706:L561P;ENSP00000386866:L583P;ENSP00000400957:L243P|.	ENSP00000312031:L442P|.	L|X	-|-	2|1	0|0	CCDC14|CCDC14	125132756|125132756	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.669000|0.669000	0.39330|0.39330	4.856000|4.856000	0.62932|0.62932	0.908000|0.908000	0.36671|0.36671	0.460000|0.460000	0.39030|0.39030	CTA|TAG	CCDC14	-	NULL	ENSG00000175455		0.368	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		183	0.00	0	A	NM_022757		123650066	123650066	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	missense	142	33.64	72	SNP	0.996	G
CCDC155	147872	genome.wustl.edu	37	19	49913062	49913062	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:49913062A>G	ENST00000447857.3	+	15	1404	c.1199A>G	c.(1198-1200)cAg>cGg	p.Q400R		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	400						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GGGGTGTGGCAGTGGGAGGAA	0.537																																						dbGAP											0													80.0	85.0	84.0					19																	49913062		1955	4148	6103	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1199A>G	19.37:g.49913062A>G	ENSP00000404220:p.Gln400Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MC3	Missense_Mutation	SNP	NULL	p.Q400R	ENST00000447857.3	37	c.1199	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	A	1.500	-0.552378	0.03996	.	.	ENSG00000161609	ENST00000447857	T	0.32272	1.46	3.9	0.492	0.16872	.	0.889113	0.09792	N	0.755240	T	0.20373	0.0490	L	0.41027	1.25	0.25416	N	0.988315	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.33214	-0.9877	10	0.17832	T	0.49	-0.6954	4.8007	0.13296	0.5197:0.3757:0.1046:0.0	.	400;400	C9JGW3;Q8N6L0	.;CC155_HUMAN	R	400	ENSP00000404220:Q400R	ENSP00000404220:Q400R	Q	+	2	0	CCDC155	54604874	0.393000	0.25237	0.989000	0.46669	0.031000	0.12232	-0.072000	0.11486	0.002000	0.14630	0.386000	0.25728	CAG	CCDC155	-	NULL	ENSG00000161609		0.537	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	207	0.00	0	A	NM_144688		49913062	49913062	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	128	33.33	64	SNP	0.989	G
CCDC158	339965	genome.wustl.edu	37	4	77247091	77247091	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:77247091T>C	ENST00000388914.3	-	22	3228	c.3076A>G	c.(3076-3078)Act>Gct	p.T1026A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1026	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGAACTAGTTAGGAGTGAG	0.373																																						dbGAP											0													170.0	165.0	166.0					4																	77247091		1863	4109	5972	-	-	-	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.3076A>G	4.37:g.77247091T>C	ENSP00000373566:p.Thr1026Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.T1026A	ENST00000388914.3	37	c.3076	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616427	0.46736	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.35421	1.31	4.83	3.57	0.40892	.	0.135985	0.34245	N	0.004136	T	0.19248	0.0462	N	0.24115	0.695	0.41628	D	0.989001	P	0.36990	0.577	B	0.38264	0.269	T	0.08207	-1.0733	10	0.05833	T	0.94	.	7.3456	0.26662	0.1946:0.0:0.0:0.8054	.	1026	Q5M9N0	CD158_HUMAN	A	1026;446	ENSP00000373566:T1026A	ENSP00000316815:T446A	T	-	1	0	CCDC158	77466115	0.976000	0.34144	0.743000	0.31040	0.279000	0.26890	2.034000	0.41145	2.169000	0.68431	0.374000	0.22700	ACT	CCDC158	-	NULL	ENSG00000163749		0.373	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	294	0.00	0	T	NM_001042784		77247091	77247091	-1	no_errors	ENST00000388914	ensembl	human	known	69_37n	missense	233	36.16	132	SNP	0.411	C
CCDC172	374355	genome.wustl.edu	37	10	118101695	118101695	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:118101695G>A	ENST00000333254.3	+	5	681	c.430G>A	c.(430-432)Gca>Aca	p.A144T	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	144																	AGAAAACCAAGCAAACATGTT	0.254																																						dbGAP											0													47.0	50.0	49.0					10																	118101695		2198	4261	6459	-	-	-	SO:0001583	missense	0			BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.430G>A	10.37:g.118101695G>A	ENSP00000329860:p.Ala144Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.A144T	ENST00000333254.3	37	c.430	CCDS31291.1	10	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775818	0.49786	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	4.5	0.54988	.	0.198329	0.41938	N	0.000793	T	0.51787	0.1695	L	0.31752	0.955	0.39336	D	0.965496	B	0.20550	0.046	B	0.22601	0.04	T	0.53121	-0.8483	9	0.54805	T	0.06	-8.4554	14.3746	0.66865	0.0716:0.0:0.9284:0.0	.	144	P0C7W6	CJ096_HUMAN	T	144	.	ENSP00000329860:A144T	A	+	1	0	C10orf96	118091685	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.332000	0.65911	1.426000	0.47256	0.655000	0.94253	GCA	CCDC172	-	NULL	ENSG00000182645		0.254	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC172	HGNC	protein_coding	OTTHUMT00000050516.2	58	0.00	0	G	NM_198515		118101695	118101695	+1	no_errors	ENST00000333254	ensembl	human	known	69_37n	missense	38	34.48	20	SNP	0.999	A
CCDC50	152137	genome.wustl.edu	37	3	191087808	191087808	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:191087808A>G	ENST00000392455.3	+	5	1029	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	CCDC50_ENST00000392456.3_Missense_Mutation_p.Y144C	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	144						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCAGATAGTTACTATTATGAA	0.378																																						dbGAP											0													121.0	121.0	121.0					3																	191087808		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.431A>G	3.37:g.191087808A>G	ENSP00000376249:p.Tyr144Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VH7	Missense_Mutation	SNP	NULL	p.Y144C	ENST00000392455.3	37	c.431	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	A	5.873	0.345208	0.11126	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.37915	1.39;1.17	5.27	1.57	0.23409	.	0.426061	0.24167	N	0.040926	T	0.25938	0.0632	L	0.39397	1.21	0.33729	D	0.617991	B;B	0.18166	0.007;0.026	B;B	0.17979	0.02;0.018	T	0.15549	-1.0433	10	0.46703	T	0.11	.	6.8983	0.24269	0.7258:0.0:0.2742:0.0	.	144;144	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	C	144	ENSP00000376249:Y144C;ENSP00000376250:Y144C	ENSP00000376249:Y144C	Y	+	2	0	CCDC50	192570502	1.000000	0.71417	0.991000	0.47740	0.081000	0.17604	1.349000	0.33998	0.036000	0.15547	0.528000	0.53228	TAC	CCDC50	-	NULL	ENSG00000152492		0.378	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	152	0.65	1	A	NM_174908		191087808	191087808	+1	no_errors	ENST00000392456	ensembl	human	known	69_37n	missense	92	42.14	67	SNP	0.983	G
CCNB1IP1	57820	genome.wustl.edu	37	14	20781842	20781842	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:20781842A>G	ENST00000398169.3	-	6	1032	c.416T>C	c.(415-417)aTg>aCg	p.M139T	CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.M139T|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.M139T|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.M139T|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.M139T|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.M139T			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	139					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CTCCCCTTTCATAGAGGTCAA	0.388			T	HMGA2	leiomyoma																																	dbGAP		Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	0													98.0	86.0	90.0					14																	20781842		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.416T>C	14.37:g.20781842A>G	ENSP00000381235:p.Met139Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.M139T	ENST00000398169.3	37	c.416	CCDS9547.1	14	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547355	0.45383	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.14	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.50333	1.59	0.42455	D	0.99276	P	0.45827	0.867	B	0.41202	0.35	T	0.38112	-0.9676	9	0.38643	T	0.18	-15.0986	10.5283	0.44963	0.8547:0.0:0.0:0.1453	.	139	Q9NPC3	CIP1_HUMAN	T	139	.	ENSP00000337396:M139T	M	-	2	0	CCNB1IP1	19851682	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.236000	0.89805	0.863000	0.35553	0.459000	0.35465	ATG	CCNB1IP1	-	NULL	ENSG00000100814		0.388	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	CCNB1IP1	HGNC	protein_coding	OTTHUMT00000073538.3	276	0.00	0	A	NM_021178, NM_182849, NM_182851, NM_182852		20781842	20781842	-1	no_errors	ENST00000353689	ensembl	human	known	69_37n	missense	189	37.83	115	SNP	1.000	G
CCNYL2	414194	genome.wustl.edu	37	10	42965606	42965606	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:42965606G>A	ENST00000483242.3	-	0	546					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						CATTGTTGGTGCCAAGCTCAC	0.448																																						dbGAP											0																																										-	-	-			0			BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42965606G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000483242.3	37	NULL		10																																																																																			CCNYL2	-	-	ENSG00000182632		0.448	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	HGNC	pseudogene	OTTHUMT00000047670.5	104	0.00	0	G	XM_936368		42965606	42965606	-1	no_errors	ENST00000475714	ensembl	human	known	69_37n	rna	69	34.29	36	SNP	0.970	A
CCSAP	126731	genome.wustl.edu	37	1	229460857	229460857	+	3'UTR	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:229460857delA	ENST00000366687.1	-	0	989				CCSAP_ENST00000366686.1_3'UTR|RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000284617.2_3'UTR|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein						multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CAAATTCCCTAAAAAAAACCT	0.323																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.*125T>-	1.37:g.229460857delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	RNA	DEL	-	NULL	ENST00000366687.1	37	NULL	CCDS1577.1	1																																																																																			CCSAP	-	-	ENSG00000154429		0.323	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1	34	0.00	0	A	NM_145257		229460857	229460857	-1	no_errors	ENST00000483092	ensembl	human	known	69_37n	rna	55	28.92	24	DEL	0.001	-
CCT5	22948	genome.wustl.edu	37	5	10261709	10261709	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:10261709G>T	ENST00000280326.4	+	8	1451	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000506600.1_Missense_Mutation_p.R251M|CCT5_ENST00000515390.1_Missense_Mutation_p.R289M|CCT5_ENST00000515676.1_Missense_Mutation_p.R306M|CCT5_ENST00000503026.1_Missense_Mutation_p.R323M	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	344					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATCGTCCCCAGGTTCTCAGAG	0.502																																						dbGAP											0													183.0	193.0	190.0					5																	10261709		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1031G>T	5.37:g.10261709G>T	ENSP00000280326:p.Arg344Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.R344M	ENST00000280326.4	37	c.1031	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544311	0.86022	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D;D	0.76494	0.985;0.998;0.999;0.998;0.998;0.998	P;D;D;D;D;D	0.73708	0.891;0.979;0.948;0.981;0.981;0.981	D	0.96565	0.9418	10	0.87932	D	0	-22.7284	18.2184	0.89894	0.0:0.0:1.0:0.0	.	251;289;193;342;344;344	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	M	344;323;289;317;306;251	ENSP00000280326:R344M;ENSP00000423318:R323M;ENSP00000426923:R289M;ENSP00000427297:R306M;ENSP00000423052:R251M	ENSP00000280326:R344M	R	+	2	0	CCT5	10314709	0.999000	0.42202	0.769000	0.31535	0.597000	0.36814	9.193000	0.94954	2.528000	0.85240	0.558000	0.71614	AGG	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.502	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	141	0.00	0	G			10261709	10261709	+1	no_errors	ENST00000280326	ensembl	human	known	69_37n	missense	109	41.08	76	SNP	0.979	T
CD4	920	genome.wustl.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:6924043delG	ENST00000011653.4	+	5	750	c.492delG	c.(490-492)cagfs	p.Q164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Del_p.Q109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	AAAACATACAGGGGGGGAAGA	0.567																																						dbGAP											0													82.0	74.0	77.0					12																	6924043		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.492delG	12.37:g.6924043delG	ENSP00000011653:p.Gln164fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Del	DEL	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Ag_CD4	p.K167fs	ENST00000011653.4	37	c.492	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000010610		0.567	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	149	0.00	0	G	NM_000616		6924043	6924043	+1	no_errors	ENST00000011653	ensembl	human	known	69_37n	frame_shift_del	56	60.62	97	DEL	0.000	-
CD163L1	283316	genome.wustl.edu	37	12	7531781	7531781	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:7531781T>C	ENST00000313599.3	-	9	2221	c.2164A>G	c.(2164-2166)Aac>Gac	p.N722D	CD163L1_ENST00000396630.1_Missense_Mutation_p.N722D|CD163L1_ENST00000416109.2_Missense_Mutation_p.N732D|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	722	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGCAATGTTCATTCCCCAG	0.493																																						dbGAP											0													130.0	103.0	112.0					12																	7531781		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2164A>G	12.37:g.7531781T>C	ENSP00000315945:p.Asn722Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.N722D	ENST00000313599.3	37	c.2164	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	T	0.499	-0.872014	0.02570	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35048	1.33;1.33;1.33	2.69	-1.41	0.08941	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.980375	0.08250	U	0.974823	T	0.21718	0.0523	L	0.31578	0.945	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.28465	0.09;0.09	T	0.35001	-0.9806	10	0.12766	T	0.61	.	3.4758	0.07583	0.0:0.2415:0.2048:0.5538	.	732;722	E7EVK4;Q9NR16	.;C163B_HUMAN	D	722;732;722	ENSP00000315945:N722D;ENSP00000393474:N732D;ENSP00000379871:N722D	ENSP00000315945:N722D	N	-	1	0	CD163L1	7423048	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.082000	0.11304	-0.451000	0.07097	0.374000	0.22700	AAC	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.493	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	228	0.44	1	T	NM_174941		7531781	7531781	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	162	39.33	105	SNP	0.010	C
CDAN1	146059	genome.wustl.edu	37	15	43028135	43028135	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:43028135G>A	ENST00000356231.3	-	3	734	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	237					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAAGGCCAAGGCCCCAAGGGC	0.617																																						dbGAP											0													78.0	86.0	83.0					15																	43028135		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.711C>T	15.37:g.43028135G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	NULL	p.G237	ENST00000356231.3	37	c.711	CCDS32209.1	15																																																																																			CDAN1	-	NULL	ENSG00000140326		0.617	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1	256	0.00	0	G	XM_085300		43028135	43028135	-1	no_errors	ENST00000356231	ensembl	human	known	69_37n	silent	214	39.33	140	SNP	1.000	A
CDC42BPA	8476	genome.wustl.edu	37	1	227216436	227216436	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:227216436T>C	ENST00000366769.3	-	29	5540	c.4249A>G	c.(4249-4251)Att>Gtt	p.I1417V	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.I1397V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I1336V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I1417V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I1430V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I1389V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I1452V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATATCCCAATGCTGTTAAAA	0.418																																						dbGAP											0													143.0	128.0	133.0					1																	227216436		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4249A>G	1.37:g.227216436T>C	ENSP00000355731:p.Ile1417Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I1417V	ENST00000366769.3	37	c.4249	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.92|11.92	1.783288|1.783288	0.31593|0.31593	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.04603	.|3.59;3.59;3.59;3.59;3.59;3.59;3.59	5.53|5.53	4.24|4.24	0.50183|0.50183	.|.	.|0.099543	.|0.64402	.|D	.|0.000002	T|T	0.03390|0.03390	0.0098|0.0098	L|L	0.27053|0.27053	0.805|0.805	0.43021|0.43021	D|D	0.994572|0.994572	.|B;B;B;B;B;B;B;B	.|0.14438	.|0.0;0.0;0.002;0.0;0.0;0.0;0.0;0.01	.|B;B;B;B;B;B;B;B	.|0.17722	.|0.004;0.002;0.006;0.004;0.003;0.002;0.001;0.019	T|T	0.44982|0.44982	-0.9292|-0.9292	5|10	.|0.36615	.|T	.|0.2	.|.	3.5495|3.5495	0.07841|0.07841	0.0:0.3177:0.0:0.6823|0.0:0.3177:0.0:0.6823	.|.	.|1397;1389;732;314;1336;1417;1452;619	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	R|V	619;745;314;641|1417;1336;1417;1452;1389;732;1397;1430	.|ENSP00000355731:I1417V;ENSP00000355729:I1336V;ENSP00000335341:I1417V;ENSP00000355728:I1452V;ENSP00000355726:I1389V;ENSP00000443275:I1397V;ENSP00000355727:I1430V	.|ENSP00000335341:I1417V	H|I	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225283059|225283059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.031000|3.031000	0.49728|0.49728	2.240000|2.240000	0.73641|0.73641	0.477000|0.477000	0.44152|0.44152	CAT|ATT	CDC42BPA	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron	ENSG00000143776		0.418	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	223	0.45	1	T	NM_014826		227216436	227216436	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	415	14.37	70	SNP	1.000	C
CDC42BPA	8476	genome.wustl.edu	37	1	227219043	227219043	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:227219043C>T	ENST00000366769.3	-	27	4917	c.3626G>A	c.(3625-3627)aGc>aAc	p.S1209N	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S1189N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S1128N|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S1209N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S1222N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S1181N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S1244N	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GGGTAGAGTGCTGTCATAAGC	0.378																																						dbGAP											0													145.0	145.0	145.0					1																	227219043		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3626G>A	1.37:g.227219043C>T	ENSP00000355731:p.Ser1209Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1209N	ENST00000366769.3	37	c.3626	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980662	0.53827	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.68624	-0.28;-0.29;-0.29;-0.27;-0.34;-0.3;-0.28	5.71	5.71	0.89125	.	0.040147	0.85682	D	0.000000	T	0.74809	0.3765	L	0.50333	1.59	0.46823	D	0.999219	D;B;D;B;D;B;B;D	0.63880	0.992;0.048;0.993;0.004;0.973;0.128;0.128;0.975	P;B;P;B;P;B;B;P	0.60415	0.84;0.034;0.833;0.011;0.874;0.075;0.129;0.752	T	0.67393	-0.5682	10	0.15066	T	0.55	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	1189;1181;524;106;1128;1209;1244;411	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.;.;.;.;.;.;.;.	N	1209;1128;1209;1244;1181;524;1189;1222	ENSP00000355731:S1209N;ENSP00000355729:S1128N;ENSP00000335341:S1209N;ENSP00000355728:S1244N;ENSP00000355726:S1181N;ENSP00000443275:S1189N;ENSP00000355727:S1222N	ENSP00000335341:S1209N	S	-	2	0	CDC42BPA	225285666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.890000	0.63178	2.687000	0.91594	0.655000	0.94253	AGC	CDC42BPA	-	NULL	ENSG00000143776		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	372	0.00	0	C	NM_014826		227219043	227219043	-1	no_errors	ENST00000334218	ensembl	human	known	69_37n	missense	708	15.38	129	SNP	1.000	T
CDH10	1008	genome.wustl.edu	37	5	24488214	24488214	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:24488214G>T	ENST00000264463.4	-	12	2432	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	642					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CAAGATCAGAGGCTCTTTTTT	0.413										HNSCC(23;0.051)																												dbGAP											0													48.0	50.0	49.0					5																	24488214		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1925C>A	5.37:g.24488214G>T	ENSP00000264463:p.Pro642His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P642H	ENST00000264463.4	37	c.1925	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	13.31	2.197553	0.38806	.	.	ENSG00000040731	ENST00000264463	T	0.76578	-1.03	5.25	5.25	0.73442	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.83358	0.5237	M	0.76574	2.34	0.52501	D	0.999953	P	0.48016	0.904	P	0.50192	0.634	D	0.84157	0.0426	10	0.45353	T	0.12	.	17.8387	0.88709	0.0:0.0:1.0:0.0	.	642	Q9Y6N8	CAD10_HUMAN	H	642	ENSP00000264463:P642H	ENSP00000264463:P642H	P	-	2	0	CDH10	24523971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.860000	0.86993	2.469000	0.83416	0.655000	0.94253	CCT	CDH10	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000040731		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	64	0.00	0	G	NM_006727		24488214	24488214	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	missense	22	63.33	38	SNP	1.000	T
CDK13	8621	genome.wustl.edu	37	7	40117689	40117689	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:40117689T>C	ENST00000181839.4	+	10	3471	c.2866T>C	c.(2866-2868)Tat>Cat	p.Y956H	CDK13_ENST00000340829.5_Missense_Mutation_p.Y956H	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	956	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAAGAAGCAATATCGTCGAAA	0.358																																						dbGAP											0													175.0	163.0	167.0					7																	40117689		2203	4300	6503	-	-	-	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2866T>C	7.37:g.40117689T>C	ENSP00000181839:p.Tyr956His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	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	p.Y956H	ENST00000181839.4	37	c.2866	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	T	17.61	3.433481	0.62955	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.42900	0.96;0.96	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62196	0.2408	M	0.62209	1.925	0.80722	D	1	D;P	0.89917	1.0;0.771	D;P	0.87578	0.998;0.673	T	0.61212	-0.7108	8	.	.	.	-8.9549	16.1127	0.81273	0.0:0.0:0.0:1.0	.	956;956	Q14004-2;Q14004	.;CDK13_HUMAN	H	956	ENSP00000181839:Y956H;ENSP00000340557:Y956H	.	Y	+	1	0	CDK13	40084214	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.265000	0.75225	0.533000	0.62120	TAT	CDK13	-	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	ENSG00000065883		0.358	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	452	0.00	0	T	NM_003718		40117689	40117689	+1	no_errors	ENST00000181839	ensembl	human	known	69_37n	missense	309	35.08	167	SNP	1.000	C
CDK2AP2	10263	genome.wustl.edu	37	11	67274438	67274438	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:67274438G>A	ENST00000301488.3	-	4	907	c.359C>T	c.(358-360)aCa>aTa	p.T120I	PITPNM1_ENST00000534749.1_5'Flank|PITPNM1_ENST00000436757.2_5'Flank|PITPNM1_ENST00000356404.3_5'Flank	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	120										lung(1)	1						GTTCCGCTCTGTCTCTGCCAG	0.662											OREG0021131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													24.0	22.0	23.0					11																	67274438		2178	4245	6423	-	-	-	SO:0001583	missense	0			AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.359C>T	11.37:g.67274438G>A	ENSP00000301488:p.Thr120Ile	Somatic	1098	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2	p.T120I	ENST00000301488.3	37	c.359	CCDS8169.1	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500249	0.85176	.	.	ENSG00000167797	ENST00000301488	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.66939	2.045	0.80722	D	1	D;P	0.69078	0.997;0.953	D;P	0.64321	0.924;0.834	T	0.78628	-0.2130	9	0.87932	D	0	-9.959	15.2639	0.73646	0.0:0.0:1.0:0.0	.	120;120	Q6IAV4;O75956	.;CDKA2_HUMAN	I	120	.	ENSP00000301488:T120I	T	-	2	0	CDK2AP2	67031014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.280000	0.89903	2.465000	0.83290	0.462000	0.41574	ACA	CDK2AP2	-	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2	ENSG00000167797		0.662	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2AP2	HGNC	protein_coding	OTTHUMT00000395535.1	81	0.00	0	G	NM_005851		67274438	67274438	-1	no_errors	ENST00000301488	ensembl	human	known	69_37n	missense	46	37.84	28	SNP	1.000	A
CDT1	81620	genome.wustl.edu	37	16	88871904	88871904	+	Missense_Mutation	SNP	C	C	A	rs545919129		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:88871904C>A	ENST00000301019.4	+	4	1164	c.545C>A	c.(544-546)cCg>cAg	p.P182Q		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CCCGGCCTGCCGGGACTCGTG	0.667																																					Melanoma(159;511 3380 30971)	dbGAP											0													40.0	46.0	44.0					16																	88871904		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.545C>A	16.37:g.88871904C>A	ENSP00000301019:p.Pro182Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.P182Q	ENST00000301019.4	37	c.545	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709696	0.68730	.	.	ENSG00000167513	ENST00000301019	T	0.21361	2.01	4.67	4.67	0.58626	.	0.112278	0.64402	D	0.000008	T	0.48390	0.1497	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.48151	-0.9060	10	0.39692	T	0.17	-30.0975	17.9177	0.88957	0.0:1.0:0.0:0.0	.	182	Q9H211	CDT1_HUMAN	Q	182	ENSP00000301019:P182Q	ENSP00000301019:P182Q	P	+	2	0	CDT1	87399405	1.000000	0.71417	0.067000	0.19924	0.238000	0.25445	7.593000	0.82686	2.310000	0.77875	0.448000	0.29417	CCG	CDT1	-	NULL	ENSG00000167513		0.667	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	34	0.00	0	C	NM_030928		88871904	88871904	+1	no_errors	ENST00000301019	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	0.997	A
CECR2	27443	genome.wustl.edu	37	22	17978531	17978531	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:17978531C>T	ENST00000400585.2	+	4	444	c.6C>T	c.(4-6)taC>taT	p.Y2Y	CECR2_ENST00000342247.5_Silent_p.Y123Y|CECR2_ENST00000400573.5_Silent_p.Y143Y|CECR2_ENST00000262608.8_Silent_p.Y124Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	165					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACGAATGTACAAAGAGGACC	0.453																																						dbGAP											0													70.0	68.0	69.0					22																	17978531		1862	4103	5965	-	-	-	SO:0001819	synonymous_variant	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.6C>T	22.37:g.17978531C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Y143	ENST00000400585.2	37	c.429		22																																																																																			CECR2	-	NULL	ENSG00000099954		0.453	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	248	0.00	0	C	NM_031413		17978531	17978531	+1	no_errors	ENST00000400573	ensembl	human	novel	69_37n	silent	192	31.43	88	SNP	1.000	T
CELA3B	23436	genome.wustl.edu	37	1	22303551	22303551	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:22303551A>G	ENST00000337107.6	+	1	38	c.19A>G	c.(19-21)Agt>Ggt	p.S7G	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	7					cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCGGCTGCTCAGTTCCCTCCT	0.532																																						dbGAP											0													234.0	226.0	229.0					1																	22303551		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.19A>G	1.37:g.22303551A>G	ENSP00000338369:p.Ser7Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S7G	ENST00000337107.6	37	c.19	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	A	3.483	-0.105569	0.06967	.	.	ENSG00000219073	ENST00000337107	D	0.88354	-2.37	4.05	1.69	0.24217	.	7739.210000	0.00166	N	0.000000	T	0.81341	0.4802	L	0.29908	0.895	0.09310	N	0.999995	B;B	0.30482	0.281;0.18	B;B	0.19391	0.025;0.025	T	0.69632	-0.5093	10	0.51188	T	0.08	-10.576	3.039	0.06132	0.6715:0.0:0.1166:0.2119	.	7;7	B1AQ52;P08861	.;CEL3B_HUMAN	G	7	ENSP00000338369:S7G	ENSP00000338369:S7G	S	+	1	0	CELA3B	22176138	0.610000	0.26983	0.748000	0.31131	0.008000	0.06430	0.742000	0.26216	0.685000	0.31468	0.454000	0.30748	AGT	CELA3B	-	NULL	ENSG00000219073		0.532	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	HGNC	protein_coding	OTTHUMT00000007797.1	561	0.00	0	A	NM_007352		22303551	22303551	+1	no_errors	ENST00000337107	ensembl	human	known	69_37n	missense	345	36.70	200	SNP	0.517	G
CELF4	56853	genome.wustl.edu	37	18	34854368	34854368	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:34854368C>T	ENST00000591282.1	-	6	706	c.707G>A	c.(706-708)cGc>cAc	p.R236H	CELF4_ENST00000334919.5_Missense_Mutation_p.R226H|CELF4_ENST00000601019.1_Missense_Mutation_p.R235H|CELF4_ENST00000412753.1_Missense_Mutation_p.R236H|CELF4_ENST00000420428.2_Missense_Mutation_p.R236H|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.R235H|CELF4_ENST00000603232.1_Missense_Mutation_p.R236H|CELF4_ENST00000591287.1_Missense_Mutation_p.R235H|CELF4_ENST00000588597.1_Missense_Mutation_p.R225H			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	236	Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGCATCGTGCGCTCCTTGTC	0.672																																						dbGAP											0													101.0	84.0	90.0					18																	34854368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.707G>A	18.37:g.34854368C>T	ENSP00000464794:p.Arg236His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R236H	ENST00000591282.1	37	c.707	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978084	0.92982	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.06528	3.29;3.29	4.79	3.91	0.45181	Nucleotide-binding, alpha-beta plait (1);	0.052689	0.85682	D	0.000000	T	0.30039	0.0752	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;0.985;0.999;0.997;0.966	T	0.24693	-1.0153	10	0.87932	D	0	-5.151	12.8485	0.57844	0.0:0.9215:0.0:0.0785	.	235;225;226;235;236	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	H	236;236;235;226;119	ENSP00000406823:R236H;ENSP00000335631:R226H	ENSP00000335631:R226H	R	-	2	0	CELF4	33108366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.458000	0.80787	1.244000	0.43870	0.561000	0.74099	CGC	CELF4	-	NULL	ENSG00000101489		0.672	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	31	0.00	0	C	NM_020180		34854368	34854368	-1	no_errors	ENST00000361795	ensembl	human	known	69_37n	missense	12	57.14	16	SNP	1.000	T
CENPH	64946	genome.wustl.edu	37	5	68492902	68492902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:68492902delA	ENST00000283006.2	+	5	424	c.337delA	c.(337-339)aaafs	p.K114fs	CENPH_ENST00000515001.1_Intron	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AACTGCACTTAAAAAAAACCT	0.323																																						dbGAP											0													51.0	55.0	54.0					5																	68492902		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.337delA	5.37:g.68492902delA	ENSP00000283006:p.Lys114fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Centromere_CenpH	p.N115fs	ENST00000283006.2	37	c.337	CCDS3998.1	5																																																																																			CENPH	-	NULL	ENSG00000153044		0.323	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	HGNC	protein_coding	OTTHUMT00000215083.1	176	0.00	0	A			68492902	68492902	+1	no_errors	ENST00000283006	ensembl	human	known	69_37n	frame_shift_del	106	32.52	53	DEL	0.089	-
CEP152	22995	genome.wustl.edu	37	15	49081165	49081165	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:49081165G>T	ENST00000380950.2	-	9	1193	c.1006C>A	c.(1006-1008)Ctg>Atg	p.L336M	CEP152_ENST00000399334.3_Missense_Mutation_p.L336M|CEP152_ENST00000325747.5_Missense_Mutation_p.L243M	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	336					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAGCTTTCCAGAGCCATTTCA	0.408																																						dbGAP											0													137.0	124.0	128.0					15																	49081165		1906	4125	6031	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1006C>A	15.37:g.49081165G>T	ENSP00000370337:p.Leu336Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L336M	ENST00000380950.2	37	c.1006	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	6.695	0.496833	0.12762	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.81163	-1.46;-1.46;-1.46	6.03	1.83	0.25207	.	0.274140	0.40144	N	0.001176	T	0.54711	0.1875	N	0.11927	0.2	0.28692	N	0.904548	B;B;B	0.31435	0.027;0.204;0.323	B;B;B	0.24006	0.034;0.05;0.05	T	0.43327	-0.9398	10	0.19590	T	0.45	-4.689	4.1951	0.10440	0.0795:0.1048:0.3442:0.4714	.	243;336;336	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	M	336;243;336;336	ENSP00000370337:L336M;ENSP00000321000:L243M;ENSP00000382271:L336M	ENSP00000321000:L243M	L	-	1	2	CEP152	46868457	0.949000	0.32298	0.971000	0.41717	0.991000	0.79684	1.329000	0.33770	0.878000	0.35920	0.655000	0.94253	CTG	CEP152	-	NULL	ENSG00000103995		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	328	0.00	0	G	NM_014985		49081165	49081165	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	264	38.52	166	SNP	0.853	T
CEP41	95681	genome.wustl.edu	37	7	130040658	130040658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:130040658delT	ENST00000223208.5	-	9	917	c.647delA	c.(646-648)aatfs	p.N216fs	CEP41_ENST00000541543.1_Frame_Shift_Del_p.N200fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.N216fs	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	216	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											GCCATGGGCATTTTTCTAAGA	0.498																																						dbGAP											0													54.0	46.0	49.0					7																	130040658		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.647delA	7.37:g.130040658delT	ENSP00000223208:p.Asn216fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Frame_Shift_Del	DEL	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.N216fs	ENST00000223208.5	37	c.647	CCDS5821.1	7																																																																																			CEP41	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000106477		0.498	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	114	0.00	0	T	NM_018718		130040658	130040658	-1	no_errors	ENST00000223208	ensembl	human	known	69_37n	frame_shift_del	89	28.57	36	DEL	1.000	-
CEP78	84131	genome.wustl.edu	37	9	80858512	80858512	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:80858512T>C	ENST00000424347.2	+	5	1027	c.738T>C	c.(736-738)tgT>tgC	p.C246C	CEP78_ENST00000376597.4_Silent_p.C246C|CEP78_ENST00000415759.2_Silent_p.C246C|CEP78_ENST00000376598.2_Silent_p.C246C|CEP78_ENST00000277082.5_Silent_p.C246C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	246					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TAGGTGCATGTGCTTTTGCAG	0.388																																						dbGAP											0													158.0	146.0	150.0					9																	80858512		1950	4146	6096	-	-	-	SO:0001819	synonymous_variant	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.738T>C	9.37:g.80858512T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.C246	ENST00000424347.2	37	c.738		9																																																																																			CEP78	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000148019		0.388	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	414	0.00	0	T	XM_095991		80858512	80858512	+1	no_errors	ENST00000376597	ensembl	human	known	69_37n	silent	328	33.40	165	SNP	0.429	C
CFHR5	81494	genome.wustl.edu	37	1	196971637	196971637	+	Silent	SNP	G	G	A	rs200148491		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:196971637G>A	ENST00000256785.4	+	8	1282	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	CFHR5_ENST00000367414.5_Silent_p.P415P			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	391	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.P391P(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGCCCACCGCCACCTCAGA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		15505	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	prostate(1)											60.0	62.0	61.0					1																	196971637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1173G>A	1.37:g.196971637G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P415	ENST00000256785.4	37	c.1245	CCDS1387.1	1																																																																																			CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.348	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	155	0.00	0	G	NM_030787		196971637	196971637	+1	no_errors	ENST00000367414	ensembl	human	known	69_37n	silent	314	20.45	81	SNP	0.971	A
CFTR	1080	genome.wustl.edu	37	7	117243699	117243699	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:117243699A>G	ENST00000003084.6	+	17	2903	c.2771A>G	c.(2770-2772)gAc>gGc	p.D924G	CFTR_ENST00000454343.1_Missense_Mutation_p.D863G|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	924	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GGAGTAGCCGACACTTTGCTT	0.393									Cystic Fibrosis																													dbGAP											0													210.0	182.0	192.0					7																	117243699		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2771A>G	7.37:g.117243699A>G	ENSP00000003084:p.Asp924Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.D924G	ENST00000003084.6	37	c.2771	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335230	0.81801	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.94138	-3.36;-3.36;-3.36	5.76	5.76	0.90799	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.084397	0.85682	D	0.000000	D	0.90800	0.7111	L	0.31845	0.965	0.80722	D	1	B	0.34349	0.45	B	0.42163	0.378	D	0.88237	0.2907	10	0.15066	T	0.55	-19.8571	16.0589	0.80826	1.0:0.0:0.0:0.0	.	924	P13569	CFTR_HUMAN	G	924;863;894	ENSP00000003084:D924G;ENSP00000403677:D863G;ENSP00000389119:D894G	ENSP00000003084:D924G	D	+	2	0	CFTR	117030935	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.279000	0.95777	2.205000	0.71048	0.477000	0.44152	GAC	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	ENSG00000001626		0.393	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	460	0.22	1	A	NM_000492		117243699	117243699	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	missense	338	35.43	186	SNP	1.000	G
CGN	57530	genome.wustl.edu	37	1	151491178	151491178	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:151491178T>C	ENST00000271636.7	+	2	316	c.183T>C	c.(181-183)gcT>gcC	p.A61A		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	55	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGAATCGCTGGGCAGCCCT	0.602																																						dbGAP											0													94.0	93.0	93.0					1																	151491178		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.183T>C	1.37:g.151491178T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.A61	ENST00000271636.7	37	c.183	CCDS999.1	1																																																																																			CGN	-	NULL	ENSG00000143375		0.602	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	225	0.00	0	T	NM_020770		151491178	151491178	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	silent	396	15.92	75	SNP	0.049	C
CGN	57530	genome.wustl.edu	37	1	151493130	151493130	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:151493130T>C	ENST00000271636.7	+	5	1236	c.1103T>C	c.(1102-1104)gTg>gCg	p.V368A		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	362	Glu-rich.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCGAAAAGTGGAGGAGCTA	0.547																																						dbGAP											0													63.0	57.0	59.0					1																	151493130		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1103T>C	1.37:g.151493130T>C	ENSP00000271636:p.Val368Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.V368A	ENST00000271636.7	37	c.1103	CCDS999.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.86|15.86	2.956348|2.956348	0.53293|0.53293	.|.	.|.	ENSG00000143375|ENSG00000143375	ENST00000271636|ENST00000416743	T|.	0.70045|.	-0.45|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.397710|.	0.27076|.	N|.	0.021049|.	T|T	0.50548|0.50548	0.1622|0.1622	M|M	0.66939|0.66939	2.045|2.045	0.31110|0.31110	N|N	0.710076|0.710076	P|.	0.35745|.	0.518|.	B|.	0.28385|.	0.089|.	T|T	0.52697|0.52697	-0.8541|-0.8541	10|5	0.87932|.	D|.	0|.	-14.2652|-14.2652	14.0626|14.0626	0.64808|0.64808	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	362|.	Q9P2M7|.	CING_HUMAN|.	A|R	368|77	ENSP00000271636:V368A|.	ENSP00000271636:V368A|.	V|W	+|+	2|1	0|0	CGN|CGN	149759754|149759754	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.639000|0.639000	0.38242|0.38242	3.276000|3.276000	0.51646|0.51646	2.192000|2.192000	0.70111|0.70111	0.533000|0.533000	0.62120|0.62120	GTG|TGG	CGN	-	NULL	ENSG00000143375		0.547	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	321	0.31	1	T	NM_020770		151493130	151493130	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	missense	593	16.60	120	SNP	0.997	C
CGN	57530	genome.wustl.edu	37	1	151495913	151495913	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:151495913C>T	ENST00000271636.7	+	6	1277	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	376	Glu-rich.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTACAGAAGCGGCAGAAGCT	0.527																																						dbGAP											0													110.0	117.0	115.0					1																	151495913		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1144C>T	1.37:g.151495913C>T	ENSP00000271636:p.Arg382Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.R382W	ENST00000271636.7	37	c.1144	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122151	0.56613	.	.	ENSG00000143375	ENST00000271636	T	0.68903	-0.36	5.54	4.61	0.57282	.	0.339173	0.27951	N	0.017188	T	0.72882	0.3516	M	0.64997	1.995	0.48830	D	0.999714	D	0.89917	1.0	D	0.87578	0.998	T	0.77446	-0.2585	10	0.87932	D	0	-30.7437	12.9563	0.58430	0.1616:0.8384:0.0:0.0	.	376	Q9P2M7	CING_HUMAN	W	382	ENSP00000271636:R382W	ENSP00000271636:R382W	R	+	1	2	CGN	149762537	0.846000	0.29590	1.000000	0.80357	0.254000	0.26022	0.801000	0.27055	1.309000	0.44985	0.655000	0.94253	CGG	CGN	-	NULL	ENSG00000143375		0.527	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	129	0.00	0	C	NM_020770		151495913	151495913	+1	no_errors	ENST00000271636	ensembl	human	known	69_37n	missense	215	20.00	54	SNP	0.999	T
CHD3	1107	genome.wustl.edu	37	17	7793748	7793748	+	Intron	DEL	A	A	-	rs554325814		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7793748delA	ENST00000330494.7	+	3	363				CHD3_ENST00000380358.4_Intron|CHD3_ENST00000570758.1_Intron|CHD3_ENST00000358181.4_Intron	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ctccatctccaaaaaaaaaaa	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.214-141A>-	17.37:g.7793748delA		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	RNA	DEL	-	NULL	ENST00000330494.7	37	NULL	CCDS32554.1	17																																																																																			CHD3	-	-	ENSG00000170004		0.448	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	18	0.00	0	A	NM_001005273		7793748	7793748	+1	no_errors	ENST00000574022	ensembl	human	known	69_37n	rna	3	63.64	14	DEL	0.454	-
CHD8	57680	genome.wustl.edu	37	14	21870134	21870134	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:21870134delT	ENST00000557364.1	-	20	4307	c.4044delA	c.(4042-4044)aaafs	p.K1348fs	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K1069fs|CHD8_ENST00000399982.2_Frame_Shift_Del_p.K1348fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1348					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGGTGGAACCTTTTCCTTCAG	0.418																																						dbGAP											0													165.0	158.0	160.0					14																	21870134		1995	4200	6195	-	-	-	SO:0001589	frameshift_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4044delA	14.37:g.21870134delT	ENSP00000451601:p.Lys1348fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1349fs	ENST00000557364.1	37	c.4044	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.418	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	268	0.00	0	T	NM_020920		21870134	21870134	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	frame_shift_del	199	31.46	95	DEL	1.000	-
CHD9	80205	genome.wustl.edu	37	16	53283933	53283933	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:53283933A>G	ENST00000398510.3	+	16	3903	c.3816A>G	c.(3814-3816)acA>acG	p.T1272T	Y_RNA_ENST00000391280.1_RNA|CHD9_ENST00000566029.1_Silent_p.T1272T|CHD9_ENST00000447540.1_Silent_p.T1272T|CHD9_ENST00000564845.1_Silent_p.T1272T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1272	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGCTGATACATGTATAATTT	0.338																																						dbGAP											0													95.0	91.0	92.0					16																	53283933		1834	4089	5923	-	-	-	SO:0001819	synonymous_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3816A>G	16.37:g.53283933A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T1272	ENST00000398510.3	37	c.3816		16																																																																																			CHD9	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000177200		0.338	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	222	0.00	0	A	NM_025134		53283933	53283933	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	silent	151	36.55	87	SNP	0.966	G
CHIT1	1118	genome.wustl.edu	37	1	203188901	203188901	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:203188901C>T	ENST00000367229.1	-	8	840	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CHIT1_ENST00000255427.3_Missense_Mutation_p.R250H|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.R260H	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	269					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGTGAAGGAGCGTCCGTAGGT	0.622																																						dbGAP											0													57.0	54.0	55.0					1																	203188901		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.806G>A	1.37:g.203188901C>T	ENSP00000356198:p.Arg269His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.R269H	ENST00000367229.1	37	c.806	CCDS1436.1	1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636620	0.47049	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.09630	2.96;2.96;2.96	5.0	3.14	0.36123	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.149852	0.30890	N	0.008669	T	0.22666	0.0547	L	0.58669	1.825	0.21256	N	0.999746	P;D;D	0.89917	0.839;1.0;0.998	B;D;D	0.68621	0.36;0.959;0.93	T	0.06752	-1.0809	10	0.24483	T	0.36	-1.7175	9.2584	0.37597	0.0:0.823:0.0:0.177	.	269;260;269	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	H	269;250;260	ENSP00000356198:R269H;ENSP00000255427:R250H;ENSP00000438078:R260H	ENSP00000255427:R250H	R	-	2	0	CHIT1	201455524	0.000000	0.05858	0.001000	0.08648	0.902000	0.53008	0.573000	0.23699	0.513000	0.28278	0.655000	0.94253	CGC	CHIT1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133063		0.622	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	HGNC	protein_coding	OTTHUMT00000100275.2	93	0.00	0	C	NM_003465		203188901	203188901	-1	no_errors	ENST00000367229	ensembl	human	known	69_37n	missense	151	17.49	32	SNP	0.107	T
CHP1	11261	genome.wustl.edu	37	15	41571019	41571019	+	Missense_Mutation	SNP	G	G	A	rs79101281		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:41571019G>A	ENST00000334660.5	+	6	706	c.466G>A	c.(466-468)Gca>Aca	p.A156T	CHP1_ENST00000560397.1_Intron|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	156	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for nuclear export signal.				calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)	p.A156T(1)									GGGCAGCATCGCAGACAGGAC	0.473																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											151.0	123.0	133.0					15																	41571019		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.466G>A	15.37:g.41571019G>A	ENSP00000335632:p.Ala156Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6H9|Q6FHZ9	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A156T	ENST00000334660.5	37	c.466	CCDS10073.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419975	0.83559	.	.	ENSG00000187446	ENST00000334660	T	0.72282	-0.64	5.27	5.27	0.74061	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.53617	1.68	0.80722	D	1	B	0.16396	0.017	B	0.17098	0.017	T	0.65125	-0.6244	10	0.45353	T	0.12	-11.5245	18.4773	0.90798	0.0:0.0:1.0:0.0	.	156	Q99653	CHP1_HUMAN	T	156	ENSP00000335632:A156T	ENSP00000335632:A156T	A	+	1	0	AC012652.1	39358311	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.733000	0.98818	2.467000	0.83353	0.591000	0.81541	GCA	CHP1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000187446		0.473	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP1	HGNC	protein_coding	OTTHUMT00000252554.2	465	0.00	0	G	NM_007236		41571019	41571019	+1	no_errors	ENST00000334660	ensembl	human	known	69_37n	missense	279	37.86	170	SNP	1.000	A
CHRM3	1131	genome.wustl.edu	37	1	240071128	240071128	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:240071128C>T	ENST00000255380.4	+	5	1156	c.377C>T	c.(376-378)aCg>aTg	p.T126M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	126					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.T126M(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AATCTGTTTACGACCTACATC	0.468																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											107.0	92.0	97.0					1																	240071128		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.377C>T	1.37:g.240071128C>T	ENSP00000255380:p.Thr126Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.T126M	ENST00000255380.4	37	c.377	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339430	0.81911	.	.	ENSG00000133019	ENST00000255380	T	0.19394	2.15	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.11941	-1.0567	10	0.87932	D	0	-21.3917	20.2789	0.98501	0.0:1.0:0.0:0.0	.	126	P20309	ACM3_HUMAN	M	126	ENSP00000255380:T126M	ENSP00000255380:T126M	T	+	2	0	CHRM3	238137751	1.000000	0.71417	0.976000	0.42696	0.992000	0.81027	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	ACG	CHRM3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt	ENSG00000133019		0.468	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	185	0.00	0	C	NM_000740		240071128	240071128	+1	no_errors	ENST00000255380	ensembl	human	known	69_37n	missense	320	16.58	64	SNP	1.000	T
CHRNA7	1139	genome.wustl.edu	37	15	32450726	32450726	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:32450726C>T	ENST00000306901.3	+	7	809	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	CHRNA7_ENST00000454250.3_Silent_p.L267L|CHRNA7_ENST00000455693.2_Silent_p.L57L	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	238					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCTCAACCTGCTGATCCCCTG	0.587																																					Esophageal Squamous(193;529 2900 40232 43193)	dbGAP											0													93.0	74.0	80.0					15																	32450726		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.712C>T	15.37:g.32450726C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L267	ENST00000306901.3	37	c.799	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.587	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	342	0.58	2	C			32450726	32450726	+1	no_errors	ENST00000454250	ensembl	human	known	69_37n	silent	308	25.96	108	SNP	1.000	T
CHRND	1144	genome.wustl.edu	37	2	233396354	233396354	+	Frame_Shift_Del	DEL	G	G	-	rs548168819	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:233396354delG	ENST00000258385.3	+	9	1067	c.1035delG	c.(1033-1035)gagfs	p.E345fs	CHRND_ENST00000457943.2_Frame_Shift_Del_p.E151fs|CHRND_ENST00000543200.1_Frame_Shift_Del_p.E330fs	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	345					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TGCTGTCTGAGGGGGTCAAGA	0.562																																						dbGAP											0													90.0	84.0	86.0					2																	233396354		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.1035delG	2.37:g.233396354delG	ENSP00000258385:p.Glu345fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K661|B4DT92|Q52LH4	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V347fs	ENST00000258385.3	37	c.1035	CCDS2494.1	2																																																																																			CHRND	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000135902		0.562	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	127	0.00	0	G			233396354	233396354	+1	no_errors	ENST00000258385	ensembl	human	known	69_37n	frame_shift_del	85	36.57	49	DEL	0.012	-
CHST12	55501	genome.wustl.edu	37	7	2472871	2472871	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:2472871G>A	ENST00000258711.6	+	2	732	c.597G>A	c.(595-597)ccG>ccA	p.P199P		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	199					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		ACCGCGACCCGCTGCGCATCC	0.662																																						dbGAP											0													47.0	40.0	42.0					7																	2472871		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.597G>A	7.37:g.2472871G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	pfam_Sulfotransferase	p.P199	ENST00000258711.6	37	c.597	CCDS5333.1	7																																																																																			CHST12	-	pfam_Sulfotransferase	ENSG00000136213		0.662	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	21	0.00	0	G	NM_018641		2472871	2472871	+1	no_errors	ENST00000258711	ensembl	human	known	69_37n	silent	8	52.94	9	SNP	0.019	A
CHST15	51363	genome.wustl.edu	37	10	125801930	125801930	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:125801930C>T	ENST00000346248.5	-	4	1562	c.920G>A	c.(919-921)cGc>cAc	p.R307H	CHST15_ENST00000435907.1_Missense_Mutation_p.R307H|CHST15_ENST00000421115.1_Missense_Mutation_p.R307H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	307					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R307L(2)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CACGGGATAGCGGTCTCGCAG	0.542																																						dbGAP											2	Substitution - Missense(2)	lung(2)											109.0	94.0	99.0					10																	125801930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.920G>A	10.37:g.125801930C>T	ENSP00000333947:p.Arg307His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R307H	ENST00000346248.5	37	c.920	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741767	0.69304	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.72	4.81	0.61882	Sulfotransferase domain (1);	0.117689	0.64402	D	0.000013	T	0.54806	0.1881	N	0.17674	0.51	0.36003	D	0.837545	D;D	0.89917	1.0;0.999	D;D	0.66716	0.909;0.946	T	0.58758	-0.7580	9	0.19147	T	0.46	-33.4486	15.1013	0.72279	0.0:0.7318:0.2682:0.0	.	307;307	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	H	307	.	ENSP00000333947:R307H	R	-	2	0	CHST15	125791920	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.107000	0.41844	1.411000	0.46957	0.655000	0.94253	CGC	CHST15	-	pfam_Sulfotransferase_dom	ENSG00000182022		0.542	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	168	0.00	0	C	NM_015892		125801930	125801930	-1	no_errors	ENST00000346248	ensembl	human	known	69_37n	missense	119	39.70	79	SNP	1.000	T
CHST5	23563	genome.wustl.edu	37	16	75563186	75563186	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:75563186C>T	ENST00000336257.3	-	3	2491	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.R372H	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	366					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCCTGCACGCGCAGGATCTT	0.652																																						dbGAP											0													58.0	49.0	52.0					16																	75563186		2198	4299	6497	-	-	-	SO:0001583	missense	0			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1097G>A	16.37:g.75563186C>T	ENSP00000338783:p.Arg366His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.R372H	ENST00000336257.3	37	c.1115	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300934	0.23650	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.82893	-1.66;-1.66	2.84	1.88	0.25563	Sulfotransferase domain (1);	0.131012	0.48767	D	0.000171	D	0.86871	0.6037	M	0.78049	2.395	0.26489	N	0.974975	D;D	0.63880	0.991;0.993	P;D	0.65140	0.888;0.932	T	0.76348	-0.2992	10	0.38643	T	0.18	.	5.0776	0.14640	0.0:0.6094:0.0:0.3906	.	372;366	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	H	366;372	ENSP00000338783:R366H;ENSP00000441220:R372H	ENSP00000338783:R366H	R	-	2	0	CHST5	74120687	0.065000	0.20965	0.996000	0.52242	0.005000	0.04900	1.074000	0.30703	0.517000	0.28361	-0.657000	0.03884	CGC	CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000135702		0.652	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	19	0.00	0	C	NM_012126		75563186	75563186	-1	no_errors	ENST00000541075	ensembl	human	known	69_37n	missense	15	31.82	7	SNP	0.513	T
CKAP2L	150468	genome.wustl.edu	37	2	113513917	113513917	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:113513917T>C	ENST00000302450.6	-	4	1109	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.Y179C	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	344						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGTTGTTATATTCACCCTG	0.423																																						dbGAP											0													173.0	164.0	167.0					2																	113513917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1031A>G	2.37:g.113513917T>C	ENSP00000305204:p.Tyr344Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	NULL	p.Y344C	ENST00000302450.6	37	c.1031	CCDS2100.1	2	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.151945	0.06585	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.11277	2.79;3.44	4.69	-9.37	0.00626	.	3.507480	0.00357	N	0.000037	T	0.02342	0.0072	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42882	-0.9425	10	0.38643	T	0.18	26.6958	1.4172	0.02304	0.3141:0.2516:0.301:0.1333	.	344	Q8IYA6	CKP2L_HUMAN	C	179;344	ENSP00000438763:Y179C;ENSP00000305204:Y344C	ENSP00000305204:Y344C	Y	-	2	0	CKAP2L	113230388	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.962000	0.00672	-4.928000	0.00027	-0.386000	0.06593	TAT	CKAP2L	-	NULL	ENSG00000169607		0.423	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	344	0.00	0	T	NM_152515		113513917	113513917	-1	no_errors	ENST00000302450	ensembl	human	known	69_37n	missense	204	42.54	151	SNP	0.000	C
CKM	1158	genome.wustl.edu	37	19	45822868	45822868	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:45822868G>A	ENST00000221476.3	-	2	278	c.104C>T	c.(103-105)aCc>aTc	p.T35I		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	35	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GAGTTCAAGGGTCAGTACCTT	0.522																																						dbGAP											0													288.0	233.0	252.0					19																	45822868		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.104C>T	19.37:g.45822868G>A	ENSP00000221476:p.Thr35Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96QL9	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.T35I	ENST00000221476.3	37	c.104	CCDS12659.1	19	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367204	0.61513	.	.	ENSG00000104879	ENST00000221476	T	0.75704	-0.96	4.69	3.65	0.41850	ATP:guanido phosphotransferase, N-terminal (4);	0.055346	0.64402	D	0.000001	D	0.89146	0.6632	H	0.96916	3.905	0.54753	D	0.999989	D	0.54772	0.968	D	0.63192	0.912	D	0.91635	0.5322	10	0.87932	D	0	-30.9601	12.3574	0.55184	0.0:0.0:0.83:0.17	.	35	P06732	KCRM_HUMAN	I	35	ENSP00000221476:T35I	ENSP00000221476:T35I	T	-	2	0	CKM	50514708	1.000000	0.71417	0.780000	0.31762	0.595000	0.36748	4.830000	0.62745	1.102000	0.41551	0.655000	0.94253	ACC	CKM	-	pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	ENSG00000104879		0.522	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKM	HGNC	protein_coding	OTTHUMT00000457569.1	624	0.16	1	G			45822868	45822868	-1	no_errors	ENST00000221476	ensembl	human	known	69_37n	missense	394	37.10	233	SNP	0.999	A
CLASP1	23332	genome.wustl.edu	37	2	122363401	122363401	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:122363401C>T	ENST00000263710.4	-	2	460	c.71G>A	c.(70-72)gGc>gAc	p.G24D	CLASP1_ENST00000409078.3_Missense_Mutation_p.G24D|CLASP1_ENST00000455322.2_Missense_Mutation_p.G24D|CLASP1_ENST00000541377.1_Missense_Mutation_p.G24D|Y_RNA_ENST00000410535.1_RNA|CLASP1_ENST00000397587.3_Missense_Mutation_p.G24D	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	24					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAGTTCTTGGCCAACCTGCAA	0.483																																						dbGAP											0													150.0	151.0	151.0					2																	122363401		2042	4177	6219	-	-	-	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.71G>A	2.37:g.122363401C>T	ENSP00000263710:p.Gly24Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G24D	ENST00000263710.4	37	c.71		2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860568	0.91433	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.69040	-0.37;-0.16;-0.16;-0.16;-0.16	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.997	D	0.85475	0.1175	10	0.87932	D	0	-3.1803	19.3631	0.94448	0.0:1.0:0.0:0.0	.	24;24;24;24	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	D	24	ENSP00000263710:G24D;ENSP00000389372:G24D;ENSP00000380717:G24D;ENSP00000441625:G24D;ENSP00000386442:G24D	ENSP00000263710:G24D	G	-	2	0	CLASP1	122079871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.578000	0.87016	0.563000	0.77884	GGC	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.483	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		333	0.30	1	C	NM_015282		122363401	122363401	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	missense	228	37.16	136	SNP	1.000	T
CLCNKA	1187	genome.wustl.edu	37	1	16349186	16349186	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:16349186C>A	ENST00000331433.4	+	2	91	c.72C>A	c.(70-72)ccC>ccA	p.P24P	CLCNKA_ENST00000375692.1_Silent_p.P24P|CLCNKA_ENST00000420078.1_Silent_p.P24P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.P24P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	24					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGTGGGGCCCCTGTCCCCACA	0.652																																						dbGAP											0													38.0	36.0	37.0					1																	16349186		2191	4271	6462	-	-	-	SO:0001819	synonymous_variant	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.72C>A	1.37:g.16349186C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.P24	ENST00000331433.4	37	c.72	CCDS167.1	1																																																																																			CLCNKA	-	prints_Cl_channel-K	ENSG00000186510		0.652	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	106	0.00	0	C			16349186	16349186	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	silent	61	39.60	40	SNP	0.710	A
CLDN4	1364	genome.wustl.edu	37	7	73245959	73245959	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:73245959T>C	ENST00000435050.1	+	2	3108	c.428T>C	c.(427-429)aTc>aCc	p.I143T	CLDN4_ENST00000431918.1_Missense_Mutation_p.I143T|CLDN4_ENST00000340958.2_Missense_Mutation_p.I143T			O14493	CLD4_HUMAN	claudin 4	143					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCCCACAACATCATCCAAGAC	0.632																																						dbGAP											0													83.0	78.0	80.0					7																	73245959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.428T>C	7.37:g.73245959T>C	ENSP00000409544:p.Ile143Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4	p.I143T	ENST00000435050.1	37	c.428	CCDS5560.1	7	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654847	0.67472	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88975	-2.45;-2.45;-2.45	5.5	5.5	0.81552	.	0.499554	0.21510	N	0.073382	D	0.88051	0.6333	L	0.55017	1.72	0.43304	D	0.995308	B	0.19583	0.037	B	0.31869	0.137	D	0.85359	0.1106	10	0.54805	T	0.06	.	13.5605	0.61786	0.0:0.0:0.0:1.0	.	143	O14493	CLD4_HUMAN	T	143;143;143;130	ENSP00000409544:I143T;ENSP00000388639:I143T;ENSP00000342445:I143T	ENSP00000342445:I143T	I	+	2	0	CLDN4	72883895	1.000000	0.71417	0.905000	0.35620	0.864000	0.49448	8.040000	0.89188	2.100000	0.63781	0.533000	0.62120	ATC	CLDN4	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000189143		0.632	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDN4	HGNC	protein_coding	OTTHUMT00000348030.1	148	0.67	1	T	NM_001305		73245959	73245959	+1	no_errors	ENST00000340958	ensembl	human	known	69_37n	missense	102	32.00	48	SNP	0.998	C
CLEC14A	161198	genome.wustl.edu	37	14	38724270	38724270	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:38724270G>A	ENST00000342213.2	-	1	1304	c.958C>T	c.(958-960)Cca>Tca	p.P320S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	320						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACCCTGATTGGCCATGTTCTC	0.607																																						dbGAP											0													78.0	76.0	77.0					14																	38724270		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.958C>T	14.37:g.38724270G>A	ENSP00000353013:p.Pro320Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P320S	ENST00000342213.2	37	c.958	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	0.231	-1.021055	0.02061	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.73152	-0.72	4.16	-2.45	0.06481	.	1.151890	0.06733	N	0.776957	T	0.34919	0.0914	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31420	-0.9944	10	0.02654	T	1	0.0122	0.894	0.01260	0.3663:0.1686:0.3016:0.1635	.	320	Q86T13	CLC14_HUMAN	S	320;85	ENSP00000353013:P320S	ENSP00000353013:P320S	P	-	1	0	CLEC14A	37794021	0.001000	0.12720	0.005000	0.12908	0.005000	0.04900	-0.396000	0.07278	-0.451000	0.07097	-0.294000	0.09567	CCA	CLEC14A	-	NULL	ENSG00000176435		0.607	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	45	0.00	0	G	NM_175060		38724270	38724270	-1	no_errors	ENST00000342213	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.005	A
CLRN3	119467	genome.wustl.edu	37	10	129690895	129690895	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:129690895T>C	ENST00000368671.3	-	1	316	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	52						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGTCCGTAAGTGATGAAAATG	0.398																																						dbGAP											0													115.0	109.0	111.0					10																	129690895		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"""transmembrane protein 12"""	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.154A>G	10.37:g.129690895T>C	ENSP00000357660:p.Thr52Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZX8	Missense_Mutation	SNP	NULL	p.T52A	ENST00000368671.3	37	c.154	CCDS7656.1	10	.	.	.	.	.	.	.	.	.	.	T	10.55	1.382964	0.25031	.	.	ENSG00000180745	ENST00000368671	T	0.69806	-0.43	5.52	0.3	0.15776	.	0.393073	0.24544	N	0.037615	T	0.52885	0.1762	M	0.61703	1.905	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.33650	-0.9860	10	0.12766	T	0.61	.	4.1313	0.10151	0.1411:0.2641:0.0:0.5948	.	52	Q8NCR9	CLRN3_HUMAN	A	52	ENSP00000357660:T52A	ENSP00000357660:T52A	T	-	1	0	CLRN3	129580885	0.470000	0.25854	0.013000	0.15412	0.003000	0.03518	-0.043000	0.12043	-0.093000	0.12396	-0.264000	0.10439	ACT	CLRN3	-	NULL	ENSG00000180745		0.398	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN3	HGNC	protein_coding	OTTHUMT00000050987.1	267	0.00	0	T	NM_152311		129690895	129690895	-1	no_errors	ENST00000368671	ensembl	human	known	69_37n	missense	164	40.79	113	SNP	0.156	C
CLTC	1213	genome.wustl.edu	37	17	57760139	57760139	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:57760139T>C	ENST00000269122.3	+	23	4024	c.3750T>C	c.(3748-3750)acT>acC	p.T1250T	CLTC_ENST00000393043.1_Silent_p.T1250T|CLTC_ENST00000579456.1_Silent_p.T187T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1250	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTAACAGTACTCGAACATGGA	0.373			T	"""ALK, TFE3"""	"""ALCL, renal """																																	dbGAP		Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													88.0	86.0	87.0					17																	57760139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3750T>C	17.37:g.57760139T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.T1250	ENST00000269122.3	37	c.3750	CCDS32696.1	17																																																																																			CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000141367		0.373	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	289	0.34	1	T	NM_004859		57760139	57760139	+1	no_errors	ENST00000269122	ensembl	human	known	69_37n	silent	623	15.12	111	SNP	0.620	C
CNGA3	1261	genome.wustl.edu	37	2	99013208	99013209	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:99013208_99013209insAA	ENST00000272602.2	+	7	1614_1615	c.1575_1576insAA	c.(1576-1578)aagfs	p.K526fs	CNGA3_ENST00000436404.2_Frame_Shift_Ins_p.K508fs|CNGA3_ENST00000409937.1_Frame_Shift_Ins_p.K530fs|CNGA3_ENST00000393504.1_Frame_Shift_Ins_p.K526fs			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	526					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.G525G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCAACGAGGGCAAGCTGGCCGT	0.55																																						dbGAP											1	Substitution - coding silent(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1576_1577dupAA	2.37:g.99013209_99013210dupAA	ENSP00000272602:p.Lys526fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Frame_Shift_Ins	INS	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L526fs	ENST00000272602.2	37	c.1575_1576	CCDS2034.1	2																																																																																			CNGA3	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000144191		0.550	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	168	0.00	0	-	NM_001298		99013208	99013209	+1	no_errors	ENST00000272602	ensembl	human	known	69_37n	frame_shift_ins	102	27.66	39	INS	1.000:1.000	AA
CNN3	1266	genome.wustl.edu	37	1	95363452	95363452	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:95363452G>T	ENST00000370206.4	-	7	1219	c.836C>A	c.(835-837)cCt>cAt	p.P279H	CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_Missense_Mutation_p.P238H|CNN3_ENST00000538964.1_Missense_Mutation_p.P279H|CNN3_ENST00000394202.4_Missense_Mutation_p.P233H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	279					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTGAATGACAGGTTCTGTAGG	0.463																																						dbGAP											0													267.0	239.0	248.0					1																	95363452		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.836C>A	1.37:g.95363452G>T	ENSP00000359225:p.Pro279His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.P279H	ENST00000370206.4	37	c.836	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756612	0.69648	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882	T;T;T;T	0.34472	1.42;1.42;1.36;1.42	6.04	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.32530	0.975	0.58432	D	0.999997	D;B	0.76494	0.999;0.011	D;B	0.70016	0.967;0.012	T	0.39375	-0.9617	10	0.54805	T	0.06	-8.1546	16.6896	0.85318	0.0:0.0:0.8693:0.1307	.	233;279	F8WA86;Q15417	.;CNN3_HUMAN	H	279;279;233;238	ENSP00000359225:P279H;ENSP00000437665:P279H;ENSP00000377752:P233H;ENSP00000440081:P238H	ENSP00000359225:P279H	P	-	2	0	CNN3	95136040	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	6.056000	0.71111	1.543000	0.49345	0.563000	0.77884	CCT	CNN3	-	NULL	ENSG00000117519		0.463	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2	563	0.00	0	G	NM_001839		95363452	95363452	-1	no_errors	ENST00000370206	ensembl	human	known	69_37n	missense	336	39.78	222	SNP	0.999	T
CNOT1	23019	genome.wustl.edu	37	16	58581178	58581178	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:58581178A>G	ENST00000317147.5	-	27	3994	c.3662T>C	c.(3661-3663)cTg>cCg	p.L1221P	CNOT1_ENST00000245138.4_Missense_Mutation_p.L72P|CNOT1_ENST00000569240.1_Missense_Mutation_p.L1216P|CNOT1_ENST00000441024.2_Missense_Mutation_p.L1221P|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1221	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGCCTCTAGCAGCAATGATTT	0.363																																						dbGAP											0													104.0	106.0	105.0					16																	58581178		2198	4300	6498	-	-	-	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3662T>C	16.37:g.58581178A>G	ENSP00000320949:p.Leu1221Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.L1221P	ENST00000317147.5	37	c.3662	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	26.0	4.696993	0.88830	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.19105	2.17;2.17	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.997;0.994;0.978;0.992	T	0.63510	-0.6621	10	0.87932	D	0	.	16.134	0.81465	1.0:0.0:0.0:0.0	.	72;1221;1221;1216	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	P	1221;72;1216;1221	ENSP00000320949:L1221P;ENSP00000413113:L1221P	ENSP00000245138:L72P	L	-	2	0	CNOT1	57138679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.216000	0.71823	0.528000	0.53228	CTG	CNOT1	-	NULL	ENSG00000125107		0.363	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	123	0.00	0	A	NM_016284		58581178	58581178	-1	no_errors	ENST00000317147	ensembl	human	known	69_37n	missense	93	32.12	44	SNP	1.000	G
CNOT3	4849	genome.wustl.edu	37	19	54656170	54656170	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:54656170A>G	ENST00000406403.1	+	14	3314	c.1711A>G	c.(1711-1713)Atc>Gtc	p.I571V	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.I571V|CNOT3_ENST00000358389.3_Missense_Mutation_p.I390V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	571	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACAGACATCATCCTGAGCAG	0.667																																						dbGAP											0													111.0	124.0	119.0					19																	54656170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1711A>G	19.37:g.54656170A>G	ENSP00000383954:p.Ile571Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.I571V	ENST00000406403.1	37	c.1711	CCDS12880.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.292|8.292	0.818040|0.818040	0.16607|0.16607	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000457463|ENST00000221232;ENST00000358389;ENST00000406403	.|T;T	.|0.41065	.|1.01;1.01	4.32|4.32	0.55|0.55	0.17219|0.17219	.|.	.|0.430777	.|0.25197	.|N	.|0.032420	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.22421|0.22421	0.69|0.69	0.22819|0.22819	N|N	0.998696|0.998696	.|B;B;B;B	.|0.13594	.|0.001;0.008;0.0;0.001	.|B;B;B;B	.|0.12837	.|0.005;0.008;0.001;0.005	T|T	0.15350|0.15350	-1.0440|-1.0440	5|10	.|0.28530	.|T	.|0.3	-13.2992|-13.2992	8.0553|8.0553	0.30602|0.30602	0.3783:0.4974:0.0:0.1244|0.3783:0.4974:0.0:0.1244	.|.	.|571;390;571;495	.|B7Z6J7;O75175-3;O75175;Q6ZMJ6	.|.;.;CNOT3_HUMAN;.	R|V	102|571;390;571	.|ENSP00000221232:I571V;ENSP00000383954:I571V	.|ENSP00000221232:I571V	H|I	+|+	2|1	0|0	CNOT3|CNOT3	59347982|59347982	0.906000|0.906000	0.30813|0.30813	0.998000|0.998000	0.56505|0.56505	0.870000|0.870000	0.49936|0.49936	0.693000|0.693000	0.25497|0.25497	0.130000|0.130000	0.18549|0.18549	0.533000|0.533000	0.62120|0.62120	CAT|ATC	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.667	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	89	0.00	0	A	NM_014516		54656170	54656170	+1	no_errors	ENST00000221232	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	0.994	G
CNTN1	1272	genome.wustl.edu	37	12	41419005	41419005	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:41419005C>T	ENST00000551295.2	+	21	2694	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V	CNTN1_ENST00000347616.1_Silent_p.V859V|CNTN1_ENST00000348761.2_Silent_p.V848V|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	859	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTTCAAGTCACCAGCCAAG	0.478																																						dbGAP											0													134.0	150.0	144.0					12																	41419005		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2577C>T	12.37:g.41419005C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V859	ENST00000551295.2	37	c.2577	CCDS8737.1	12																																																																																			CNTN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.478	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	88	0.00	0	C	NM_001843		41419005	41419005	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	silent	64	40.19	43	SNP	0.102	T
CNTN2	6900	genome.wustl.edu	37	1	205028245	205028245	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:205028245C>T	ENST00000331830.4	+	6	805	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	174	Ig-like C2-type 2.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGAGTTCCCCAACTTCATC	0.597																																					Melanoma(183;2548 2817 37099 41192)	dbGAP											0													66.0	54.0	58.0					1																	205028245		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.521C>T	1.37:g.205028245C>T	ENSP00000330633:p.Pro174Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P174L	ENST00000331830.4	37	c.521	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966258	0.92855	.	.	ENSG00000184144	ENST00000331830	T	0.03004	4.08	3.95	3.95	0.45737	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000061	T	0.15652	0.0377	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00918	-1.1515	10	0.66056	D	0.02	.	16.1429	0.81539	0.0:1.0:0.0:0.0	.	174;174;65	A1L3A3;Q02246;Q68DA2	.;CNTN2_HUMAN;.	L	174	ENSP00000330633:P174L	ENSP00000330633:P174L	P	+	2	0	CNTN2	203294868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.723000	0.68492	2.214000	0.71695	0.585000	0.79938	CCC	CNTN2	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000184144		0.597	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	126	0.00	0	C	NM_005076		205028245	205028245	+1	no_errors	ENST00000331830	ensembl	human	known	69_37n	missense	170	18.27	38	SNP	1.000	T
CNTN2	6900	genome.wustl.edu	37	1	205033454	205033454	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:205033454C>T	ENST00000331830.4	+	11	1529	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	415					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTCTAGCACTCGCCCCTGACT	0.607																																					Melanoma(183;2548 2817 37099 41192)	dbGAP											0													157.0	162.0	161.0					1																	205033454		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1245C>T	1.37:g.205033454C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L415	ENST00000331830.4	37	c.1245	CCDS1449.1	1																																																																																			CNTN2	-	NULL	ENSG00000184144		0.607	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	162	0.61	1	C	NM_005076		205033454	205033454	+1	no_errors	ENST00000331830	ensembl	human	known	69_37n	silent	285	19.03	67	SNP	0.675	T
CNTN4	152330	genome.wustl.edu	37	3	3067928	3067928	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:3067928C>T	ENST00000397461.1	+	14	2013	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	CNTN4_ENST00000397459.2_Silent_p.D215D|CNTN4_ENST00000448906.2_Silent_p.D215D|CNTN4_ENST00000427331.1_Silent_p.D543D|CNTN4_ENST00000418658.1_Silent_p.D543D|CNTN4_ENST00000358480.3_Silent_p.D324D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	543	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TAGACTTTGACAGAGATGGGG	0.388																																						dbGAP											0													129.0	111.0	117.0					3																	3067928		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1629C>T	3.37:g.3067928C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D543	ENST00000397461.1	37	c.1629	CCDS43041.1	3																																																																																			CNTN4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144619		0.388	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	369	0.00	0	C			3067928	3067928	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	silent	271	31.22	123	SNP	1.000	T
CNTRL	11064	genome.wustl.edu	37	9	123930433	123930433	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:123930433A>G	ENST00000373855.1	+	38	6164	c.5904A>G	c.(5902-5904)aaA>aaG	p.K1968K	CNTRL_ENST00000238341.5_Silent_p.K1968K|CNTRL_ENST00000373850.1_Silent_p.K1416K|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1968	Required for centrosome localization.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAACCAGTAAAGTGACACTGA	0.393																																						dbGAP											0													81.0	80.0	81.0					9																	123930433		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5904A>G	9.37:g.123930433A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.K1968	ENST00000373855.1	37	c.5904	CCDS35118.1	9																																																																																			CNTRL	-	NULL	ENSG00000119397		0.393	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	155	0.00	0	A	NM_007018		123930433	123930433	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	silent	114	36.31	65	SNP	0.260	G
CNTROB	116840	genome.wustl.edu	37	17	7842981	7842981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7842981C>T	ENST00000563694.1	+	8	2003	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q360*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q360*|CNTROB_ENST00000380262.3_Nonsense_Mutation_p.Q360*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	360					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGAAGAACGGCAGACCTGGGC	0.592																																						dbGAP											0													59.0	57.0	58.0					17																	7842981		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1078C>T	17.37:g.7842981C>T	ENSP00000456335:p.Gln360*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	NULL	p.Q360*	ENST00000563694.1	37	c.1078	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	C	44	10.773214	0.99465	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	5.26	4.27	0.50696	.	0.262703	0.27366	N	0.019688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.0584	11.9237	0.52806	0.3155:0.6844:0.0:0.0	.	.	.	.	X	360	.	ENSP00000369605:Q360X	Q	+	1	0	CNTROB	7783706	0.049000	0.20398	0.865000	0.33974	0.775000	0.43874	0.701000	0.25616	1.178000	0.42870	0.313000	0.20887	CAG	CNTROB	-	NULL	ENSG00000170037		0.592	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	71	0.00	0	C	NM_053051		7842981	7842981	+1	no_errors	ENST00000380262	ensembl	human	known	69_37n	nonsense	74	37.29	44	SNP	0.984	T
COBLL1	22837	genome.wustl.edu	37	2	165551296	165551296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:165551296delA	ENST00000392717.2	-	13	2838	c.2834delT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L869fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGA	0.418																																						dbGAP											0													32.0	35.0	34.0					2																	165551296		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2834delT	2.37:g.165551296delA	ENSP00000376478:p.Leu945fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.L974fs	ENST00000392717.2	37	c.2921		2																																																																																			COBLL1	-	NULL	ENSG00000082438		0.418	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		73	0.00	0	A	NM_014900		165551296	165551296	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	frame_shift_del	60	33.70	31	DEL	0.972	-
COG1	9382	genome.wustl.edu	37	17	71196087	71196087	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:71196087C>T	ENST00000299886.4	+	5	1077	c.997C>T	c.(997-999)Cca>Tca	p.P333S		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	333					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGAGTTCCAGCCAACACTCCG	0.507																																						dbGAP											0													112.0	85.0	94.0					17																	71196087		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.997C>T	17.37:g.71196087C>T	ENSP00000299886:p.Pro333Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.P333S	ENST00000299886.4	37	c.997	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645207	0.29246	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30714	1.52;1.55	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.993;1.0	T	0.61098	-0.7131	10	0.72032	D	0.01	-26.0264	19.0978	0.93260	0.0:1.0:0.0:0.0	.	333;333;333	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	S	333	ENSP00000400111:P333S;ENSP00000299886:P333S	ENSP00000299886:P333S	P	+	1	0	COG1	68707682	1.000000	0.71417	0.999000	0.59377	0.085000	0.17905	7.270000	0.78493	2.735000	0.93741	0.655000	0.94253	CCA	COG1	-	NULL	ENSG00000166685		0.507	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	274	0.00	0	C			71196087	71196087	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	508	16.01	97	SNP	1.000	T
COG1	9382	genome.wustl.edu	37	17	71197684	71197684	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:71197684A>G	ENST00000299886.4	+	7	1798	c.1718A>G	c.(1717-1719)cAg>cGg	p.Q573R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	573					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGCGGACTCAGTCCGTGGCA	0.577																																						dbGAP											0													95.0	78.0	84.0					17																	71197684		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1718A>G	17.37:g.71197684A>G	ENSP00000299886:p.Gln573Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.Q573R	ENST00000299886.4	37	c.1718	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	A	7.028	0.559975	0.13436	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.22945	1.93;1.93	5.29	5.29	0.74685	.	0.333100	0.36665	N	0.002480	T	0.17492	0.0420	L	0.29908	0.895	0.32085	N	0.592653	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.15954	-1.0419	10	0.15066	T	0.55	-13.5411	11.2215	0.48857	0.9266:0.0:0.0734:0.0	.	573;573;573	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	R	573	ENSP00000400111:Q573R;ENSP00000299886:Q573R	ENSP00000299886:Q573R	Q	+	2	0	COG1	68709279	1.000000	0.71417	0.294000	0.24946	0.025000	0.11179	2.153000	0.42282	2.016000	0.59253	0.533000	0.62120	CAG	COG1	-	NULL	ENSG00000166685		0.577	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	72	0.00	0	A			71197684	71197684	+1	no_errors	ENST00000299886	ensembl	human	known	69_37n	missense	162	18.91	38	SNP	1.000	G
COG2	22796	genome.wustl.edu	37	1	230819335	230819335	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:230819335G>A	ENST00000366669.4	+	11	1297	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	COG2_ENST00000366668.3_Silent_p.A394A|COG2_ENST00000535166.1_Silent_p.A278A|COG2_ENST00000534989.1_Silent_p.A335A|COG2_ENST00000546013.1_Silent_p.A83A	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	394					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAGAAATAGCGGGATCCTTAG	0.388																																						dbGAP											0													146.0	143.0	144.0					1																	230819335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1182G>A	1.37:g.230819335G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86U99	Silent	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.A394	ENST00000366669.4	37	c.1182	CCDS1584.1	1																																																																																			COG2	-	NULL	ENSG00000135775		0.388	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	339	0.00	0	G	NM_007357		230819335	230819335	+1	no_errors	ENST00000366669	ensembl	human	known	69_37n	silent	714	15.58	132	SNP	0.065	A
COIL	8161	genome.wustl.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)aagfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	196	Lys-rich (basic).					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393																																						dbGAP											0													141.0	132.0	135.0					17																	55028016		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.587delA	17.37:g.55028016delT	ENSP00000240316:p.Lys196fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R931	Frame_Shift_Del	DEL	NULL	p.K196fs	ENST00000240316.4	37	c.587	CCDS11592.1	17																																																																																			COIL	-	NULL	ENSG00000121058		0.393	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	597	0.33	2	T			55028016	55028016	-1	no_errors	ENST00000240316	ensembl	human	known	69_37n	frame_shift_del	995	17.16	209	DEL	0.030	-
COL10A1	1300	genome.wustl.edu	37	6	116442918	116442918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:116442918C>A	ENST00000327673.4	-	2	768	c.361G>T	c.(361-363)Gga>Tga	p.G121*	COL10A1_ENST00000243222.4_Nonsense_Mutation_p.G121*|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P100H			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	121	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCATATGGTCCTCTCTCTCCT	0.602																																						dbGAP											0													64.0	57.0	60.0					6																	116442918		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.361G>T	6.37:g.116442918C>A	ENSP00000327368:p.Gly121*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4P2	Nonsense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G121*	ENST00000327673.4	37	c.361	CCDS5105.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.439830|7.439830	0.98286|0.98286	.|.	.|.	ENSG00000123500|ENSG00000234188	ENST00000243222;ENST00000327673;ENST00000452729|ENST00000430695	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75221	.|0.3820	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78160	.|-0.2312	.|5	0.87932|0.87932	D|D	0|0	.|.	19.3431|19.3431	0.94352|0.94352	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|H	121|100	.|.	ENSP00000243222:G121X|ENSP00000415795:P100H	G|P	-|+	1|2	0|0	COL10A1|AL121963.1	116549611|116549611	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.729000|7.729000	0.84864|0.84864	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GGA|CCT	COL10A1	-	pfam_Collagen	ENSG00000123500		0.602	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1	145	0.00	0	C			116442918	116442918	-1	no_errors	ENST00000243222	ensembl	human	known	69_37n	nonsense	92	42.86	69	SNP	1.000	A
COL13A1	1305	genome.wustl.edu	37	10	71677050	71677050	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:71677050A>G	ENST00000398978.3	+	18	1449	c.957A>G	c.(955-957)gaA>gaG	p.E319E	COL13A1_ENST00000398972.3_Silent_p.E319E|COL13A1_ENST00000357811.3_Silent_p.E297E|COL13A1_ENST00000517713.1_Silent_p.E297E|COL13A1_ENST00000356340.3_Silent_p.E319E|COL13A1_ENST00000398971.3_Silent_p.E319E|COL13A1_ENST00000398964.3_Silent_p.E290E|COL13A1_ENST00000398966.3_Silent_p.E297E|COL13A1_ENST00000398968.3_Silent_p.E300E|COL13A1_ENST00000520267.1_Silent_p.E262E|COL13A1_ENST00000398969.3_Silent_p.E262E|COL13A1_ENST00000520133.1_Silent_p.E268E|COL13A1_ENST00000522165.1_Silent_p.E300E|COL13A1_ENST00000398973.3_Silent_p.E319E|COL13A1_ENST00000398974.3_Silent_p.E307E|COL13A1_ENST00000354547.3_Silent_p.E297E	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						TCCAGGGAGAACGGGGCATGC	0.622																																						dbGAP											0													51.0	58.0	56.0					10																	71677050		2008	4174	6182	-	-	-	SO:0001819	synonymous_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.957A>G	10.37:g.71677050A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Collagen	p.E319	ENST00000398978.3	37	c.957	CCDS44419.1	10																																																																																			COL13A1	-	pfam_Collagen	ENSG00000197467		0.622	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	91	0.00	0	A	NM_005203		71677050	71677050	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	silent	57	44.23	46	SNP	1.000	G
COL18A1	80781	genome.wustl.edu	37	21	46909426	46909426	+	Frame_Shift_Del	DEL	G	G	-	rs61731167	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:46909426delG	ENST00000359759.4	+	18	3216	c.3195delG	c.(3193-3195)ccgfs	p.P1065fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.P650fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.P830fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1065	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGGCTGCCGGGGGCGAAGG	0.701																																						dbGAP											0													14.0	18.0	16.0					21																	46909426		1972	4127	6099	-	-	-	SO:0001589	frameshift_variant	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3195delG	21.37:g.46909426delG	ENSP00000352798:p.Pro1065fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.A1067fs	ENST00000359759.4	37	c.3195		21																																																																																			COL18A1	-	pfam_Collagen	ENSG00000182871		0.701	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	57	0.00	0	G			46909426	46909426	+1	no_errors	ENST00000359759	ensembl	human	known	69_37n	frame_shift_del	45	19.64	11	DEL	0.001	-
COL20A1	57642	genome.wustl.edu	37	20	61959823	61959823	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:61959823C>T	ENST00000358894.6	+	34	3854	c.3754C>T	c.(3754-3756)Cgt>Tgt	p.R1252C	COL20A1_ENST00000326996.6_Missense_Mutation_p.R1284C|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1265C|COL20A1_ENST00000422202.1_Missense_Mutation_p.R1265C	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1252					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGAATGGGGGCGTGGTGGCCG	0.706																																						dbGAP											0													17.0	21.0	20.0					20																	61959823		1939	4127	6066	-	-	-	SO:0001583	missense	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3754C>T	20.37:g.61959823C>T	ENSP00000351767:p.Arg1252Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R1284C	ENST00000358894.6	37	c.3850	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131423	0.21041	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.91631	-2.18;-2.18;-2.17;-2.17;-2.88;-2.73	3.08	0.8	0.18672	.	1.342670	0.05242	U	0.512474	D	0.83653	0.5301	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.71938	-0.4441	10	0.56958	D	0.05	.	4.0034	0.09590	0.229:0.6242:0.0:0.1468	.	1265;1252	Q9P218-2;Q9P218	.;COKA1_HUMAN	C	1252;1284;1265;1265;393;248	ENSP00000351767:R1252C;ENSP00000323077:R1284C;ENSP00000408690:R1265C;ENSP00000414753:R1265C;ENSP00000410799:R393C;ENSP00000406345:R248C	ENSP00000323077:R1284C	R	+	1	0	COL20A1	61430267	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.545000	0.06069	0.402000	0.25451	0.313000	0.20887	CGT	COL20A1	-	NULL	ENSG00000101203		0.706	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	41	0.00	0	C	NM_020882		61959823	61959823	+1	no_errors	ENST00000326996	ensembl	human	known	69_37n	missense	20	48.78	20	SNP	0.001	T
COL24A1	255631	genome.wustl.edu	37	1	86590679	86590679	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:86590679A>G	ENST00000370571.2	-	3	1706	c.1340T>C	c.(1339-1341)cTa>cCa	p.L447P	COL24A1_ENST00000436319.1_Missense_Mutation_p.L447P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	447					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCTTTCCTTAGATCAAGGTG	0.343																																						dbGAP											0													123.0	105.0	111.0					1																	86590679		1862	4095	5957	-	-	-	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1340T>C	1.37:g.86590679A>G	ENSP00000359603:p.Leu447Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.L447P	ENST00000370571.2	37	c.1340	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	A	2.571	-0.299611	0.05532	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.20332	2.08;2.08	5.45	-2.04	0.07343	.	0.531850	0.14146	N	0.338360	T	0.03095	0.0091	L	0.27053	0.805	0.23862	N	0.996632	B;B	0.10296	0.001;0.003	B;B	0.12156	0.007;0.002	T	0.40251	-0.9573	10	0.30078	T	0.28	.	1.6901	0.02850	0.4398:0.106:0.1133:0.3409	.	447;447	F8WDM8;Q17RW2	.;COOA1_HUMAN	P	447	ENSP00000359603:L447P;ENSP00000392531:L447P	ENSP00000359603:L447P	L	-	2	0	COL24A1	86363267	0.001000	0.12720	0.048000	0.18961	0.941000	0.58515	0.606000	0.24194	0.006000	0.14734	-0.433000	0.05886	CTA	COL24A1	-	NULL	ENSG00000171502		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	336	0.59	2	A	NM_152890		86590679	86590679	-1	no_errors	ENST00000370571	ensembl	human	known	69_37n	missense	237	33.80	121	SNP	0.000	G
COL3A1	1281	genome.wustl.edu	37	2	189874938	189874938	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:189874938A>T	ENST00000304636.3	+	49	4028	c.3858A>T	c.(3856-3858)aaA>aaT	p.K1286N	COL3A1_ENST00000317840.5_Missense_Mutation_p.K983N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1286	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAGGATGCAAATTGGATGCTA	0.373																																						dbGAP											0													115.0	112.0	113.0					2																	189874938		2203	4300	6503	-	-	-	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3858A>T	2.37:g.189874938A>T	ENSP00000304408:p.Lys1286Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.K1286N	ENST00000304636.3	37	c.3858	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	A	9.416	1.081655	0.20309	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;T	0.93547	-3.24;-0.74	5.93	2.13	0.27403	Fibrillar collagen, C-terminal (3);	0.126745	0.35040	N	0.003484	D	0.85461	0.5702	N	0.20530	0.585	0.09310	N	1	B	0.31459	0.324	B	0.36534	0.227	T	0.71955	-0.4436	10	0.08599	T	0.76	.	9.2177	0.37358	0.4171:0.0:0.5829:0.0	.	1286	P02461	CO3A1_HUMAN	N	1286;983	ENSP00000304408:K1286N;ENSP00000315243:K983N	ENSP00000304408:K1286N	K	+	3	2	COL3A1	189583183	0.003000	0.15002	0.103000	0.21229	0.661000	0.39034	0.052000	0.14163	0.111000	0.17947	-0.899000	0.02877	AAA	COL3A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	ENSG00000168542		0.373	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	311	0.00	0	A	NM_000090		189874938	189874938	+1	no_errors	ENST00000304636	ensembl	human	known	69_37n	missense	170	40.56	116	SNP	0.024	T
COL4A2	1284	genome.wustl.edu	37	13	111138064	111138064	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:111138064G>T	ENST00000360467.5	+	34	3394	c.3088G>T	c.(3088-3090)Ggc>Tgc	p.G1030C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1030	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.G1030C(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGAGGCCCGGCCACATCAA	0.622																																						dbGAP											1	Substitution - Missense(1)	lung(1)											47.0	54.0	52.0					13																	111138064		1889	4107	5996	-	-	-	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3088G>T	13.37:g.111138064G>T	ENSP00000353654:p.Gly1030Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1030C	ENST00000360467.5	37	c.3088	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395908	0.42512	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99369	-5.78	5.11	4.25	0.50352	.	0.134220	0.36740	N	0.002435	D	0.99600	0.9855	H	0.98276	4.19	0.30885	N	0.730984	D	0.89917	1.0	D	0.80764	0.994	D	0.96590	0.9437	10	0.87932	D	0	.	10.1582	0.42836	0.0935:0.0:0.9065:0.0	.	1030	P08572	CO4A2_HUMAN	C	1030	ENSP00000353654:G1030C	ENSP00000257309:G1030C	G	+	1	0	COL4A2	109936065	0.814000	0.29104	0.732000	0.30844	0.779000	0.44077	1.391000	0.34475	2.365000	0.80145	0.563000	0.77884	GGC	COL4A2	-	pfam_Collagen	ENSG00000134871		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	49	0.00	0	G	NM_001846		111138064	111138064	+1	no_errors	ENST00000360467	ensembl	human	known	69_37n	missense	41	38.81	26	SNP	0.513	T
COL4A5	1287	genome.wustl.edu	37	X	107935990	107935990	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:107935990G>A	ENST00000361603.2	+	48	4767	c.4523G>A	c.(4522-4524)aGc>aAc	p.S1508N	COL4A5_ENST00000328300.6_Missense_Mutation_p.S1514N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1508	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.S1508I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGGCTGGCAGCTGCCTTCGT	0.408									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											1	Substitution - Missense(1)	lung(1)											115.0	90.0	99.0					X																	107935990		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4523G>A	X.37:g.107935990G>A	ENSP00000354505:p.Ser1508Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S1514N	ENST00000361603.2	37	c.4541	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490593	0.84962	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.92099	-2.97;-2.97	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	H	0.98407	4.225	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99399	1.0927	10	0.87932	D	0	.	19.0941	0.93242	0.0:0.0:1.0:0.0	.	1511;1508	E7EVY4;P29400	.;CO4A5_HUMAN	N	1514;1508;1514	ENSP00000331902:S1514N;ENSP00000354505:S1508N	ENSP00000331902:S1514N	S	+	2	0	COL4A5	107822646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.459000	0.83118	0.594000	0.82650	AGC	COL4A5	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000188153		0.408	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	334	0.30	1	G			107935990	107935990	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	missense	212	39.43	138	SNP	1.000	A
COL5A1	1289	genome.wustl.edu	37	9	137702110	137702110	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:137702110G>A	ENST00000371817.3	+	44	3898	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1162	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGAGAGATCGGGGAGCCGGG	0.582																																						dbGAP											0													56.0	72.0	66.0					9																	137702110		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3484G>A	9.37:g.137702110G>A	ENSP00000360882:p.Gly1162Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G1162R	ENST00000371817.3	37	c.3484	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264646	0.59431	.	.	ENSG00000130635	ENST00000371817	D	0.99637	-6.29	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.99796	0.9913	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96683	0.9505	10	0.87932	D	0	.	17.4994	0.87727	0.0:0.0:1.0:0.0	.	1162	P20908	CO5A1_HUMAN	R	1162	ENSP00000360882:G1162R	ENSP00000360882:G1162R	G	+	1	0	COL5A1	136841931	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	9.408000	0.97327	2.127000	0.65507	0.637000	0.83480	GGG	COL5A1	-	NULL	ENSG00000130635		0.582	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	219	0.00	0	G	NM_000093		137702110	137702110	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	missense	137	41.95	99	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238234210	238234210	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:238234210G>A	ENST00000295550.4	-	43	9938	c.9486C>T	c.(9484-9486)tgC>tgT	p.C3162C	COL6A3_ENST00000409809.1_Silent_p.C2956C|COL6A3_ENST00000472056.1_Silent_p.C2555C|COL6A3_ENST00000347401.3_Silent_p.C2961C|COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000353578.4_Silent_p.C2956C|COL6A3_ENST00000346358.4_Silent_p.C2962C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3162	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACCAGGAGCGCAAACCTTTT	0.378																																						dbGAP											0													172.0	175.0	174.0					2																	238234210		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9486C>T	2.37:g.238234210G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.C3162	ENST00000295550.4	37	c.9486	CCDS33412.1	2																																																																																			COL6A3	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	ENSG00000163359		0.378	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	331	0.30	1	G	NM_004369		238234210	238234210	-1	no_errors	ENST00000295550	ensembl	human	known	69_37n	silent	232	36.16	132	SNP	0.005	A
COL6A5	256076	genome.wustl.edu	37	3	130114005	130114005	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:130114005delA	ENST00000432398.2	+	8	3759	c.3265delA	c.(3265-3267)aaafs	p.K1090fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.K1090fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1090	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTTTGCCCTTAAAAAAGTGAG	0.403																																						dbGAP											0													111.0	99.0	103.0					3																	130114005		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3265delA	3.37:g.130114005delA	ENSP00000390895:p.Lys1090fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V1091fs	ENST00000432398.2	37	c.3265		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		220	0.00	0	A	NM_153264		130114005	130114005	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	frame_shift_del	181	32.14	90	DEL	0.000	-
COL6A5	256076	genome.wustl.edu	37	3	130187729	130187729	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:130187729T>C	ENST00000432398.2	+	38	7375	c.6881T>C	c.(6880-6882)tTc>tCc	p.F2294S	COL6A5_ENST00000265379.6_Missense_Mutation_p.F2294S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2294	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GATGTGGCTTTCCTCATAGAT	0.393																																						dbGAP											0													57.0	53.0	54.0					3																	130187729		1913	4122	6035	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6881T>C	3.37:g.130187729T>C	ENSP00000390895:p.Phe2294Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.F2294S	ENST00000432398.2	37	c.6881		3	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332148	0.41297	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.34	4.18	0.49190	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000033	T	0.55625	0.1932	M	0.92026	3.265	0.24786	N	0.992789	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.54807	-0.8238	10	0.87932	D	0	.	8.9516	0.35792	0.0:0.0862:0.0:0.9138	.	2294;2294	A8TX70;A8TX70-2	CO6A5_HUMAN;.	S	2294;2294;237;129	ENSP00000390895:F2294S;ENSP00000265379:F2294S;ENSP00000362250:F237S;ENSP00000424968:F129S	ENSP00000265379:F2294S	F	+	2	0	COL6A5	131670419	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.854000	0.55949	0.874000	0.35823	0.528000	0.53228	TTC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		225	0.00	0	T	NM_153264		130187729	130187729	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	153	37.40	92	SNP	1.000	C
COL9A1	1297	genome.wustl.edu	37	6	70984477	70984477	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:70984477T>C	ENST00000357250.6	-	11	1134		c.e11-2		COL9A1_ENST00000320755.7_Splice_Site|COL9A1_ENST00000370499.4_Splice_Site|COL9A1_ENST00000489611.1_Splice_Site	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGTTAATCCCTAATAGAGCAA	0.373																																						dbGAP											0													91.0	87.0	89.0					6																	70984477		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.976-2A>G	6.37:g.70984477T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Splice_Site	SNP	-	e11-2	ENST00000357250.6	37	c.976-2	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213209	0.39102	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8951	0.70639	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL9A1	71041198	1.000000	0.71417	0.905000	0.35620	0.424000	0.31475	5.642000	0.67888	2.197000	0.70478	0.482000	0.46254	.	COL9A1	-	-	ENSG00000112280		0.373	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	260	0.38	1	T		Intron	70984477	70984477	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	splice_site	176	37.01	104	SNP	0.973	C
COPB1	1315	genome.wustl.edu	37	11	14512112	14512112	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:14512112T>C	ENST00000249923.3	-	5	905	c.605A>G	c.(604-606)cAg>cGg	p.Q202R	COPB1_ENST00000439561.2_Splice_Site_p.Q202R	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	202					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTACCTCACCTGATCTGCATG	0.308																																						dbGAP											0													91.0	79.0	83.0					11																	14512112		2199	4292	6491	-	-	-	SO:0001630	splice_region_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.606+1A>G	11.37:g.14512112T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_bsu	p.Q202R	ENST00000249923.3	37	c.605	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932688	0.34096	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.24151	1.87;1.87;1.87	5.06	5.06	0.68205	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	L	0.49256	1.55	0.80722	D	1	P	0.36125	0.538	P	0.44921	0.464	T	0.04191	-1.0970	10	0.20046	T	0.44	.	14.8011	0.69916	0.0:0.0:0.0:1.0	.	202	P53618	COPB_HUMAN	R	202	ENSP00000249923:Q202R;ENSP00000397873:Q202R;ENSP00000436383:Q202R	ENSP00000249923:Q202R	Q	-	2	0	COPB1	14468688	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.997000	0.88414	2.015000	0.59207	0.528000	0.53228	CAG	COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_bsu	ENSG00000129083		0.308	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	223	0.00	0	T	NM_016451	Missense_Mutation	14512112	14512112	-1	no_errors	ENST00000249923	ensembl	human	known	69_37n	missense	181	33.82	93	SNP	1.000	C
CORO1B	57175	genome.wustl.edu	37	11	67209552	67209552	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:67209552C>T	ENST00000341356.5	-	3	319	c.209G>A	c.(208-210)cGc>cAc	p.R70H	CORO1B_ENST00000453768.2_Missense_Mutation_p.R70H|CORO1B_ENST00000545016.1_Missense_Mutation_p.R70H|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.R70H	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	70					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTTGTCAATGCGGCCCGTCTG	0.637																																						dbGAP											0													52.0	44.0	46.0					11																	67209552		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.209G>A	11.37:g.67209552C>T	ENSP00000340211:p.Arg70His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R70H	ENST00000341356.5	37	c.209	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453432	0.84209	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.79352	4.98;4.98;1.5;-1.26	4.21	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.832250	0.09911	N	0.739835	D	0.89945	0.6862	H	0.95151	3.63	0.80722	D	1	D;D;D	0.69078	0.997;0.979;0.995	P;P;P	0.53912	0.691;0.62;0.737	D	0.91407	0.5148	10	0.87932	D	0	-27.2821	16.6986	0.85342	0.0:1.0:0.0:0.0	.	70;70;70	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	H	70;70;97;70;70	ENSP00000377471:R70H;ENSP00000340211:R70H;ENSP00000416006:R70H;ENSP00000438056:R70H	ENSP00000340211:R70H	R	-	2	0	CORO1B	66966128	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	5.850000	0.69473	2.306000	0.77630	0.462000	0.41574	CGC	CORO1B	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000172725		0.637	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	27	0.00	0	C	NM_020441		67209552	67209552	-1	no_errors	ENST00000341356	ensembl	human	known	69_37n	missense	11	47.62	10	SNP	1.000	T
COX20	116228	genome.wustl.edu	37	1	245005230	245005230	+	Intron	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:245005230delT	ENST00000411948.2	+	2	435				COX20_ENST00000498262.1_Intron|COX20_ENST00000366528.3_Intron	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											ATCTAGGTTCTTTTTTTTCAT	0.358																																						dbGAP											0													45.0	41.0	42.0					1																	245005230		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"""Mitochondrial respiratory chain complex assembly factors"""	26970	protein-coding gene	gene with protein product		614698	"""family with sequence similarity 36, member A"", ""COX20 Cox2 chaperone homolog (S. cerevisiae)"""	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.43-16T>-	1.37:g.245005230delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV86	RNA	DEL	-	NULL	ENST00000411948.2	37	NULL	CCDS31080.1	1																																																																																			COX20	-	-	ENSG00000203667		0.358	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1	191	0.52	1	T	NM_198076		245005230	245005230	+1	no_errors	ENST00000464757	ensembl	human	known	69_37n	rna	325	16.41	65	DEL	0.346	-
CPZ	8532	genome.wustl.edu	37	4	8609110	8609110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:8609110delC	ENST00000360986.4	+	7	1359	c.1185delC	c.(1183-1185)cacfs	p.H395fs	CPZ_ENST00000382480.2_Frame_Shift_Del_p.H258fs|CPZ_ENST00000315782.6_Frame_Shift_Del_p.H384fs|CPZ_ENST00000429646.2_5'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	395					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCAAGCACCCCCAGGAGG	0.602											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													115.0	97.0	103.0					4																	8609110		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1185delC	4.37:g.8609110delC	ENSP00000354255:p.His395fs	Somatic	650	WXS	Illumina GAIIx	Phase_IV	O00520|Q96MX2	Frame_Shift_Del	DEL	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14	p.Q397fs	ENST00000360986.4	37	c.1185	CCDS33953.1	4																																																																																			CPZ	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000109625		0.602	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	163	0.00	0	C	NM_003652		8609110	8609110	+1	no_errors	ENST00000360986	ensembl	human	known	69_37n	frame_shift_del	96	35.76	54	DEL	0.997	-
CR2	1380	genome.wustl.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:207642043_207642044insC	ENST00000367058.3	+	3	806_807	c.617_618insC	c.(616-621)gtccccfs	p.VP206fs	CR2_ENST00000367057.3_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Ins_p.VP206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.VP206fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.624dupC	1.37:g.207642050_207642050dupC	ENSP00000356025:p.Val206fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Ins	INS	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T209fs	ENST00000367058.3	37	c.617_618	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.396	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	629	0.00	0	-	NM_001877		207642043	207642044	+1	no_errors	ENST00000367057	ensembl	human	known	69_37n	frame_shift_ins	1122	15.51	206	INS	0.000:0.000	C
CREB3L4	148327	genome.wustl.edu	37	1	153945733	153945733	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:153945733A>G	ENST00000368607.3	+	7	1072	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CREB3L4_ENST00000405694.3_Missense_Mutation_p.H122R|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000271889.4_Missense_Mutation_p.H269R|CREB3L4_ENST00000368600.3_Missense_Mutation_p.H249R|CREB3L4_ENST00000368603.1_Missense_Mutation_p.H269R|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	269	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGGAGAGGCACAACATGTGA	0.498																																						dbGAP											0													67.0	67.0	67.0					1																	153945733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.806A>G	1.37:g.153945733A>G	ENSP00000357596:p.His269Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.H269R	ENST00000368607.3	37	c.806	CCDS1056.1	1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955389	0.34471	.	.	ENSG00000143578	ENST00000405694;ENST00000368607;ENST00000271889;ENST00000368603;ENST00000368600	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.26	4.13	0.48395	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.270089	0.35151	N	0.003409	T	0.18383	0.0441	N	0.25890	0.77	0.35954	D	0.834115	B;B	0.30068	0.267;0.267	B;B	0.29862	0.108;0.108	T	0.05099	-1.0906	10	0.17832	T	0.49	.	9.3244	0.37984	0.9151:0.0:0.0849:0.0	.	249;269	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	R	122;269;269;269;249	ENSP00000385104:H122R;ENSP00000357596:H269R;ENSP00000271889:H269R;ENSP00000357592:H269R;ENSP00000357589:H249R	ENSP00000271889:H269R	H	+	2	0	CREB3L4	152212357	0.897000	0.30589	0.971000	0.41717	0.786000	0.44442	1.671000	0.37513	1.008000	0.39264	0.533000	0.62120	CAC	CREB3L4	-	pfam_bZIP_1,smart_bZIP,pfscan_bZIP	ENSG00000143578		0.498	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	196	0.00	0	A	NM_130898		153945733	153945733	+1	no_errors	ENST00000271889	ensembl	human	known	69_37n	missense	378	16.85	77	SNP	1.000	G
CRIP1	1396	genome.wustl.edu	37	14	105954583	105954583	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:105954583G>A	ENST00000330233.7	+	2	1064	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	CRIP1_ENST00000409393.2_Missense_Mutation_p.G41R|C14orf80_ENST00000334656.7_5'Flank|C14orf80_ENST00000392527.1_5'Flank|CRIP1_ENST00000551180.1_Nonsense_Mutation_p.W9*|CRIP1_ENST00000392531.3_Missense_Mutation_p.G41R|C14orf80_ENST00000329886.7_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	41	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCTGACCTCTGGGGGCCACGC	0.652																																						dbGAP											0													54.0	63.0	60.0					14																	105954583		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.121G>A	14.37:g.105954583G>A	ENSP00000332449:p.Gly41Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BPI2|Q13628|Q53XY7|Q96J34	Nonsense_Mutation	SNP	pfam_Znf_LIM	p.W12*	ENST00000330233.7	37	c.35	CCDS10004.1	14	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025802	0.54683	.	.	ENSG00000213145	ENST00000330233;ENST00000409393;ENST00000392531	D;D;D	0.87729	-2.29;-2.29;-2.29	4.76	3.87	0.44632	Zinc finger, LIM-type (4);	0.000000	0.51477	U	0.000084	D	0.89619	0.6767	.	.	.	0.80722	D	1	P	0.39883	0.693	P	0.49683	0.619	D	0.89524	0.3780	9	0.72032	D	0.01	-11.5777	11.641	0.51233	0.0882:0.0:0.9118:0.0	.	41	P50238	CRIP1_HUMAN	R	41	ENSP00000332449:G41R;ENSP00000386340:G41R;ENSP00000376315:G41R	ENSP00000447493:G41R	G	+	1	0	CRIP1	105025628	1.000000	0.71417	0.095000	0.20976	0.009000	0.06853	9.286000	0.95898	1.000000	0.39049	-0.142000	0.14014	GGG	AL928654.7	-	pfam_Znf_LIM	ENSG00000257341		0.652	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRIP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000335466.2	95	0.00	0	G	NM_001311		105954583	105954583	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553228	ensembl	human	known	69_37n	nonsense	51	39.29	33	SNP	0.994	A
CRISP1	167	genome.wustl.edu	37	6	49806200	49806200	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:49806200G>A	ENST00000335847.4	-	7	673	c.572C>T	c.(571-573)aCa>aTa	p.T191I	CRISP1_ENST00000355791.2_Missense_Mutation_p.T191I|CRISP1_ENST00000329411.5_Intron|CRISP1_ENST00000507853.1_Intron|CRISP1_ENST00000536021.1_Intron|CRISP1_ENST00000505118.1_Missense_Mutation_p.T191I	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	191					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TGGGACGCCTGTCTTATAAGG	0.358																																						dbGAP											0													175.0	167.0	170.0					6																	49806200		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.572C>T	6.37:g.49806200G>A	ENSP00000338276:p.Thr191Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.T191I	ENST00000335847.4	37	c.572	CCDS4931.1	6	.	.	.	.	.	.	.	.	.	.	G	3.249	-0.153587	0.06585	.	.	ENSG00000124812	ENST00000335847;ENST00000355791;ENST00000505118	T;T;T	0.09723	2.95;2.95;2.95	4.85	-9.69	0.00524	CAP domain (2);	2.542710	0.01087	N	0.005101	T	0.01092	0.0036	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	.	.	.	.	3.6819	0.08313	0.4295:0.0714:0.3556:0.1436	.	191	P54107	CRIS1_HUMAN	I	191	ENSP00000338276:T191I;ENSP00000348044:T191I;ENSP00000427589:T191I	.	T	-	2	0	CRISP1	49914159	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.750000	0.00793	-2.976000	0.00284	-3.796000	0.00020	ACA	CRISP1	-	NULL	ENSG00000124812		0.358	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	340	0.00	0	G	NM_001131		49806200	49806200	-1	no_errors	ENST00000335847	ensembl	human	known	69_37n	missense	257	36.23	146	SNP	0.000	A
CRTC1	23373	genome.wustl.edu	37	19	18887993	18887993	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:18887993delC	ENST00000321949.8	+	14	1732	c.1706delC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S327fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S528fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.S585fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACAGGAGAGTCCCCCCCCAGC	0.637																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)							,	36,4218		5,26,2096	32.0	37.0	35.0		,	3.8	1.0	19		34	39,8205		5,29,4088	no	frameshift,frameshift	CRTC1	NM_015321.2,NM_001098482.1	,	10,55,6184	A1A1,A1R,RR		0.4731,0.8463,0.6001	,	,	18887993	75,12423	2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1706delC	19.37:g.18887993delC	ENSP00000323332:p.Ser569fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.S588fs	ENST00000321949.8	37	c.1754	CCDS32963.1	19																																																																																			CRTC1	-	NULL	ENSG00000105662		0.637	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	24	0.00	0	C	NM_025021		18887993	18887993	+1	no_errors	ENST00000338797	ensembl	human	known	69_37n	frame_shift_del	6	70.83	17	DEL	1.000	-
CRYBA1	1411	genome.wustl.edu	37	17	27577217	27577217	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:27577217G>C	ENST00000225387.3	+	3	115	c.114G>C	c.(112-114)caG>caC	p.Q38H		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	38	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCTATGATCAGGAGAACTTTC	0.473																																						dbGAP											0													120.0	113.0	115.0					17																	27577217		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.114G>C	17.37:g.27577217G>C	ENSP00000225387:p.Gln38His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13633|Q14CM9	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.Q38H	ENST00000225387.3	37	c.114	CCDS11249.1	17	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636643	0.29068	.	.	ENSG00000108255	ENST00000225387	T	0.75938	-0.98	6.04	0.434	0.16539	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	L	0.58302	1.8	0.58432	D	0.999997	D	0.69078	0.997	D	0.71656	0.974	T	0.77787	-0.2457	10	0.66056	D	0.02	.	9.5449	0.39275	0.5042:0.0:0.4958:0.0	.	38	P05813	CRBA1_HUMAN	H	38	ENSP00000225387:Q38H	ENSP00000225387:Q38H	Q	+	3	2	CRYBA1	24601343	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	1.569000	0.36428	0.094000	0.17404	-0.367000	0.07326	CAG	CRYBA1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000108255		0.473	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA1	HGNC	protein_coding	OTTHUMT00000256071.2	316	0.00	0	G	NM_005208		27577217	27577217	+1	no_errors	ENST00000225387	ensembl	human	known	69_37n	missense	610	15.86	115	SNP	1.000	C
CSN3	1448	genome.wustl.edu	37	4	71110584	71110584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:71110584delT	ENST00000304954.3	+	2	134	c.48delT	c.(46-48)cctfs	p.P16fs		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	160					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TAACCCTGCCTTTTTTGGTAA	0.279																																						dbGAP											0													81.0	81.0	81.0					4																	71110584		2202	4296	6498	-	-	-	SO:0001589	frameshift_variant	0			U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.48delT	4.37:g.71110584delT	ENSP00000304822:p.Pro16fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R683|B4DY81|O43191|Q7LDR6	Frame_Shift_Del	DEL	pfam_Casein_kappa,pirsf_Casein_kappa	p.L18fs	ENST00000304954.3	37	c.48	CCDS3538.1	4																																																																																			CSN3	-	pfam_Casein_kappa,pirsf_Casein_kappa	ENSG00000171209		0.279	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN3	HGNC	protein_coding	OTTHUMT00000251555.1	145	0.00	0	T	NM_005212		71110584	71110584	+1	no_errors	ENST00000304954	ensembl	human	known	69_37n	frame_shift_del	115	36.22	67	DEL	0.948	-
CSNK2A1	1457	genome.wustl.edu	37	20	469361	469361	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:469361T>C	ENST00000217244.3	-	11	1160	c.785A>G	c.(784-786)aAc>aGc	p.N262S	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.N262S|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.N126S|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.N262S	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TAATTCAATGTTGTATTTGTC	0.373																																						dbGAP											0													149.0	135.0	140.0					20																	469361		2203	4300	6503	-	-	-	SO:0001583	missense	0			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.785A>G	20.37:g.469361T>C	ENSP00000217244:p.Asn262Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N262S	ENST00000217244.3	37	c.785	CCDS13003.1	20	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388328	0.61956	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.085354	0.85682	D	0.000000	T	0.50446	0.1616	L	0.28014	0.82	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.45175	-0.9279	10	0.44086	T	0.13	-12.3252	14.836	0.70183	0.0:0.0:0.0:1.0	.	262	P68400	CSK21_HUMAN	S	262;262;262;262;126	ENSP00000383086:N262S;ENSP00000339247:N262S;ENSP00000217244:N262S;ENSP00000383076:N126S	ENSP00000217244:N262S	N	-	2	0	CSNK2A1	417361	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.072000	0.71238	2.285000	0.76669	0.533000	0.62120	AAC	CSNK2A1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101266		0.373	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSNK2A1	HGNC	protein_coding	OTTHUMT00000077466.1	364	0.00	0	T	NM_001895		469361	469361	-1	no_errors	ENST00000217244	ensembl	human	known	69_37n	missense	265	36.30	151	SNP	1.000	C
CSRNP2	81566	genome.wustl.edu	37	12	51467703	51467703	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:51467703T>C	ENST00000228515.1	-	3	611	c.314A>G	c.(313-315)tAt>tGt	p.Y105C	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	105					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						ACAGAGTGTATAGCTCCGTAC	0.532																																						dbGAP											0													89.0	88.0	88.0					12																	51467703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.314A>G	12.37:g.51467703T>C	ENSP00000228515:p.Tyr105Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.Y105C	ENST00000228515.1	37	c.314	CCDS8807.1	12	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454817	0.84209	.	.	ENSG00000110925	ENST00000228515;ENST00000548206;ENST00000548981	T;T;T	0.44482	2.53;0.92;2.53	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70019	-0.4987	10	0.87932	D	0	-17.3543	14.4964	0.67691	0.0:0.0:0.0:1.0	.	105	Q9H175	CSRN2_HUMAN	C	105;11;105	ENSP00000228515:Y105C;ENSP00000447983:Y11C;ENSP00000447657:Y105C	ENSP00000228515:Y105C	Y	-	2	0	CSRNP2	49753970	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	7.779000	0.85648	2.324000	0.78689	0.533000	0.62120	TAT	CSRNP2	-	NULL	ENSG00000110925		0.532	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP2	HGNC	protein_coding	OTTHUMT00000404893.1	121	0.00	0	T			51467703	51467703	-1	no_errors	ENST00000228515	ensembl	human	known	69_37n	missense	68	48.09	63	SNP	1.000	C
CT47B1	643311	genome.wustl.edu	37	X	120008753	120008753	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:120008753C>T	ENST00000371311.3	-	1	1026	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	258										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCCTTACCCTCGGGGGCCACG	0.687																																						dbGAP											0													28.0	26.0	26.0					X																	120008753		692	1590	2282	-	-	-	SO:0001583	missense	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.772G>A	X.37:g.120008753C>T	ENSP00000360360:p.Glu258Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM97	Missense_Mutation	SNP	NULL	p.E258K	ENST00000371311.3	37	c.772	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	4.991	0.184124	0.09495	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.31	-1.03	0.10102	.	.	.	.	.	T	0.13030	0.0316	N	0.19112	0.55	0.09310	N	1	P	0.36065	0.535	B	0.20767	0.031	T	0.11743	-1.0575	8	0.48119	T	0.1	.	4.2046	0.10483	0.0:0.5161:0.0:0.4839	.	258	P0C2W7	CT47B_HUMAN	K	258	.	ENSP00000360360:E258K	E	-	1	0	CT47B1	119892781	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.141000	0.16076	-0.420000	0.07427	0.171000	0.16805	GAG	CT47B1	-	NULL	ENSG00000236446		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	280	0.35	1	C	NM_001145718		120008753	120008753	-1	no_errors	ENST00000371311	ensembl	human	known	69_37n	missense	168	35.36	93	SNP	0.000	T
CTCFL	140690	genome.wustl.edu	37	20	56098943	56098943	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:56098943C>T	ENST00000608263.1	-	1	980	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	CTCFL_ENST00000609232.1_Missense_Mutation_p.G107R|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.3_Missense_Mutation_p.G107R|CTCFL_ENST00000432255.2_Missense_Mutation_p.G107R|CTCFL_ENST00000608158.1_Missense_Mutation_p.G107R|CTCFL_ENST00000481655.2_Missense_Mutation_p.G107R|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.G107R|CTCFL_ENST00000423479.3_Missense_Mutation_p.G107R|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.G107R|CTCFL_ENST00000608425.1_Missense_Mutation_p.G107R|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000371196.2_Missense_Mutation_p.G107R|CTCFL_ENST00000608440.1_Missense_Mutation_p.G107R|CTCFL_ENST00000608858.1_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	107					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACCTGCACCCCTTCTTGCTGC	0.582																																						dbGAP											0													77.0	69.0	72.0					20																	56098943		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.319G>A	20.37:g.56098943C>T	ENSP00000476783:p.Gly107Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G107R	ENST00000608263.1	37	c.319	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944063	0.53079	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	T;T;T;T;T;T;T;T;T	0.10668	2.86;2.85;2.85;2.96;2.89;3.13;2.88;3.4;2.89	4.91	4.91	0.64330	.	0.783752	0.10957	N	0.615349	T	0.23532	0.0569	L	0.47716	1.5	0.09310	N	1	P;P;P;D;D;P;P;P	0.65815	0.906;0.906;0.845;0.995;0.964;0.906;0.906;0.906	P;P;B;P;B;P;P;B	0.60345	0.459;0.459;0.39;0.873;0.365;0.459;0.459;0.365	T	0.17137	-1.0379	10	0.23891	T	0.37	-9.1088	15.0119	0.71555	0.0:1.0:0.0:0.0	.	107;107;107;107;107;107;107;107	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	R	107	ENSP00000415579:G107R;ENSP00000243914:G107R;ENSP00000360239:G107R;ENSP00000415329:G107R;ENSP00000392034:G107R;ENSP00000413713:G107R;ENSP00000403369:G107R;ENSP00000409344:G107R;ENSP00000399061:G107R	ENSP00000243914:G107R	G	-	1	0	CTCFL	55532349	0.010000	0.17322	0.004000	0.12327	0.003000	0.03518	2.617000	0.46385	2.249000	0.74217	0.650000	0.86243	GGG	CTCFL	-	NULL	ENSG00000124092		0.582	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	112	0.88	1	C	NM_080618		56098943	56098943	-1	no_errors	ENST00000423479	ensembl	human	known	69_37n	missense	60	36.84	35	SNP	0.013	T
CTSK	1513	genome.wustl.edu	37	1	150779186	150779186	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:150779186G>T	ENST00000271651.3	-	2	206	c.96C>A	c.(94-96)acC>acA	p.T32T	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	32					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCCTGTGGGTCTTCTTCC	0.557																																						dbGAP											0													193.0	158.0	170.0					1																	150779186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.96C>A	1.37:g.150779186G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FHS6	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.T32	ENST00000271651.3	37	c.96	CCDS969.1	1																																																																																			CTSK	-	pfam_Prot_inhib_I29,smart_Prot_inhib_I29	ENSG00000143387		0.557	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSK	HGNC	protein_coding	OTTHUMT00000084732.1	454	0.00	0	G	NM_000396		150779186	150779186	-1	no_errors	ENST00000271651	ensembl	human	known	69_37n	silent	1003	17.04	206	SNP	0.848	T
CTSE	1510	genome.wustl.edu	37	1	206317585	206317585	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:206317585G>A	ENST00000358184.2	+	1	127	c.9G>A	c.(7-9)acG>acA	p.T3T	CTSE_ENST00000361052.3_Silent_p.T3T|CTSE_ENST00000432969.2_5'Flank|CTSE_ENST00000360218.2_Silent_p.T3T	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.T3T(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAATGAAAACGCTCCTTCTTT	0.587																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)											147.0	123.0	131.0					1																	206317585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.9G>A	1.37:g.206317585G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.T3	ENST00000358184.2	37	c.9	CCDS1462.1	1																																																																																			CTSE	-	superfamily_Peptidase_aspartic	ENSG00000196188		0.587	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087998.1	259	0.00	0	G	NM_001910		206317585	206317585	+1	no_errors	ENST00000361052	ensembl	human	known	69_37n	silent	480	14.51	82	SNP	0.000	A
CUBN	8029	genome.wustl.edu	37	10	16981063	16981063	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:16981063A>G	ENST00000377833.4	-	38	5697	c.5632T>C	c.(5632-5634)Tac>Cac	p.Y1878H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1878	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCATTGGTAATTGGAGTTA	0.398																																						dbGAP											0													157.0	142.0	147.0					10																	16981063		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5632T>C	10.37:g.16981063A>G	ENSP00000367064:p.Tyr1878His	Somatic		WXS	Illumina GAIIx	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.Y1878H	ENST00000377833.4	37	c.5632	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350605	0.82132	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	5.12	5.12	0.69794	CUB (5);	0.000000	0.40144	N	0.001168	T	0.39279	0.1072	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.09509	-1.0671	10	0.33940	T	0.23	.	15.1945	0.73075	1.0:0.0:0.0:0.0	.	1878	O60494	CUBN_HUMAN	H	1878	ENSP00000367064:Y1878H	ENSP00000367064:Y1878H	Y	-	1	0	CUBN	17021069	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.548000	0.90669	2.054000	0.61138	0.477000	0.44152	TAC	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	445	0.00	0	A	NM_001081		16981063	16981063	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	missense	301	42.78	225	SNP	1.000	G
CUL2	8453	genome.wustl.edu	37	10	35327850	35327850	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:35327850delT	ENST00000374748.1	-	10	1188	c.875delA	c.(874-876)aatfs	p.N292fs	CUL2_ENST00000602371.1_Frame_Shift_Del_p.N235fs|CUL2_ENST00000374742.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000537177.1_Frame_Shift_Del_p.N311fs|CUL2_ENST00000374751.3_Frame_Shift_Del_p.N292fs|CUL2_ENST00000374749.3_Frame_Shift_Del_p.N292fs|CUL2_ENST00000374746.1_Frame_Shift_Del_p.N292fs			Q13617	CUL2_HUMAN	cullin 2	292					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TCACTTACCATTTTTTTTCTC	0.313																																						dbGAP											0													122.0	111.0	115.0					10																	35327850		2201	4295	6496	-	-	-	SO:0001589	frameshift_variant	0			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.875delA	10.37:g.35327850delT	ENSP00000363880:p.Asn292fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Frame_Shift_Del	DEL	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.N311fs	ENST00000374748.1	37	c.932	CCDS7179.1	10																																																																																			CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000108094		0.313	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	431	0.91	4	T	NM_003591		35327850	35327850	-1	no_errors	ENST00000537177	ensembl	human	known	69_37n	frame_shift_del	297	34.42	158	DEL	1.000	-
CUL3	8452	genome.wustl.edu	37	2	225376276	225376276	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:225376276T>C	ENST00000264414.4	-	6	1016	c.678A>G	c.(676-678)gcA>gcG	p.A226A	CUL3_ENST00000344951.4_Silent_p.A160A|CUL3_ENST00000432260.2_5'Flank|CUL3_ENST00000409096.1_Silent_p.A202A|CUL3_ENST00000409777.1_Silent_p.A202A	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	226					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CACTATTTTCTGCTAAAAATT	0.313																																						dbGAP											0													87.0	87.0	87.0					2																	225376276		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.678A>G	2.37:g.225376276T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.A226	ENST00000264414.4	37	c.678	CCDS2462.1	2																																																																																			CUL3	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000036257		0.313	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	193	0.00	0	T			225376276	225376276	-1	no_errors	ENST00000264414	ensembl	human	known	69_37n	silent	142	37.72	86	SNP	0.999	C
CYB561D2	11068	genome.wustl.edu	37	3	50391135	50391135	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:50391135T>C	ENST00000418577.1	+	3	1205	c.629T>C	c.(628-630)gTg>gCg	p.V210A	CYB561D2_ENST00000232508.5_Missense_Mutation_p.V210A|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.V210A|NPRL2_ENST00000232501.3_5'Flank|CYB561D2_ENST00000424512.1_Missense_Mutation_p.V210A			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	210	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGAACCAGGTGAGCAATGCC	0.562																																						dbGAP											0													79.0	76.0	77.0					3																	50391135		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040704	CCDS2827.1	3p21.3	2013-03-14	2013-03-14		ENSG00000114395	ENSG00000114395		"""Cytochrome b genes"""	30253	protein-coding gene	gene with protein product	"""putative tumor suppressor 101F6"""	607068	"""cytochrome b-561 domain containing 2"""			9122200, 11085536, 23249217	Standard	XM_005264832		Approved	101F6, TSP10	uc003dal.3	O14569	OTTHUMG00000156813	ENST00000418577.1:c.629T>C	3.37:g.50391135T>C	ENSP00000391209:p.Val210Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K552	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.V210A	ENST00000418577.1	37	c.629	CCDS2827.1	3	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738182	0.89573	.	.	ENSG00000114395	ENST00000425346;ENST00000424512;ENST00000232508;ENST00000418577	.	.	.	5.58	5.58	0.84498	Cytochrome b561/ferric reductase transmembrane (1);	0.055930	0.64402	D	0.000001	T	0.66458	0.2791	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.52343	0.696	T	0.70586	-0.4831	9	0.66056	D	0.02	-9.75	15.4155	0.74962	0.0:0.0:0.0:1.0	.	210	O14569	C56D2_HUMAN	A	210	.	ENSP00000232508:V210A	V	+	2	0	CYB561D2	50366139	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.134000	0.65973	0.459000	0.35465	GTG	CYB561D2	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000114395		0.562	CYB561D2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYB561D2	HGNC	protein_coding	OTTHUMT00000345973.1	47	0.00	0	T	NM_007022		50391135	50391135	+1	no_errors	ENST00000232508	ensembl	human	known	69_37n	missense	4	88.57	31	SNP	1.000	C
CYB5R1	51706	genome.wustl.edu	37	1	202935903	202935903	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:202935903A>T	ENST00000367249.4	-	2	213	c.139T>A	c.(139-141)Tac>Aac	p.Y47N	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	47	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	CGTAGCAGGTACTTTTCATTG	0.622																																						dbGAP											0													51.0	51.0	51.0					1																	202935903		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.139T>A	1.37:g.202935903A>T	ENSP00000356218:p.Tyr47Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.Y47N	ENST00000367249.4	37	c.139	CCDS1431.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.359793	0.95854	.	.	ENSG00000159348	ENST00000367249	D	0.85013	-1.93	5.69	5.69	0.88448	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92437	0.7599	M	0.84433	2.695	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.92866	0.6310	10	0.51188	T	0.08	4.7428	13.8798	0.63676	1.0:0.0:0.0:0.0	.	47	Q9UHQ9	NB5R1_HUMAN	N	47	ENSP00000356218:Y47N	ENSP00000356218:Y47N	Y	-	1	0	CYB5R1	201202526	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.672000	0.83956	2.167000	0.68274	0.533000	0.62120	TAC	CYB5R1	-	superfamily_Riboflavin_synthase-like_b-brl	ENSG00000159348		0.622	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	58	0.00	0	A	NM_016243		202935903	202935903	-1	no_errors	ENST00000367249	ensembl	human	known	69_37n	missense	107	17.69	23	SNP	1.000	T
CYB561A3	220002	genome.wustl.edu	37	11	61120477	61120477	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:61120477A>G	ENST00000294072.4	-	5	1205	c.528T>C	c.(526-528)aaT>aaC	p.N176N	CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000536915.1_Silent_p.N176N|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000447532.2_Silent_p.N176N|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000426130.2_Silent_p.N193N	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	176	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										AAAGCTTCTCATTAATGCCCG	0.512																																						dbGAP											0													72.0	68.0	69.0					11																	61120477		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.528T>C	11.37:g.61120477A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPU2|B4DLN9|J3KQH4|Q6PK96	Silent	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.N193	ENST00000294072.4	37	c.579	CCDS8004.1	11																																																																																			CYBASC3	-	pfam_Cyt_b561_euk,pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000162144		0.512	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBASC3	HGNC	protein_coding	OTTHUMT00000398714.2	160	0.62	1	A	NM_153611		61120477	61120477	-1	no_errors	ENST00000426130	ensembl	human	known	69_37n	silent	112	36.72	65	SNP	0.517	G
CYFIP1	23191	genome.wustl.edu	37	15	22925811	22925811	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:22925811C>T	ENST00000313077.7	+	2	154	c.29C>T	c.(28-30)gCg>gTg	p.A10V	CYFIP1_ENST00000560848.1_Missense_Mutation_p.A10V	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTGGAGGACGCGCTGTCCAAC	0.652																																						dbGAP											0													40.0	40.0	40.0					15																	22925811		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.29C>T	15.37:g.22925811C>T	ENSP00000324549:p.Ala10Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.A10V	ENST00000313077.7	37	c.29	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943524	0.92593	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.43294	0.95	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.972;0.986	T	0.65265	-0.6210	10	0.45353	T	0.12	-28.7778	19.6223	0.95663	0.0:1.0:0.0:0.0	.	68;10	E7EQ04;Q7L576	.;CYFP1_HUMAN	V	10;68	ENSP00000324549:A10V	ENSP00000324549:A10V	A	+	2	0	CYFIP1	20477252	1.000000	0.71417	0.860000	0.33809	0.522000	0.34438	7.605000	0.82844	2.712000	0.92718	0.561000	0.74099	GCG	CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.652	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	92	0.00	0	C	NM_014608		22925811	22925811	+1	no_errors	ENST00000313077	ensembl	human	known	69_37n	missense	55	27.27	21	SNP	1.000	T
CYLD	1540	genome.wustl.edu	37	16	50783750	50783750	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:50783750A>G	ENST00000427738.3	+	2	346	c.141A>G	c.(139-141)ggA>ggG	p.G47G	CYLD_ENST00000569418.1_Silent_p.G47G|CYLD_ENST00000568704.2_Silent_p.G47G|CYLD_ENST00000398568.2_Silent_p.G47G|CYLD_ENST00000564326.1_Silent_p.G47G|CYLD_ENST00000311559.9_Silent_p.G47G|CYLD_ENST00000540145.1_Silent_p.G47G|CYLD_ENST00000566206.1_Silent_p.G47G			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	47					cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAAGTATAGGACAGTATATTC	0.403			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													dbGAP	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													107.0	102.0	104.0					16																	50783750		1855	4095	5950	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.141A>G	16.37:g.50783750A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19	p.G47	ENST00000427738.3	37	c.141	CCDS45482.1	16																																																																																			CYLD	-	NULL	ENSG00000083799		0.403	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	223	0.00	0	A			50783750	50783750	+1	no_errors	ENST00000311559	ensembl	human	known	69_37n	silent	203	34.52	107	SNP	0.961	G
CYP17A1	1586	genome.wustl.edu	37	10	104596968	104596968	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:104596968T>C	ENST00000369887.3	-	1	322	c.151A>G	c.(151-153)Aac>Gac	p.N51D	CYP17A1_ENST00000489268.1_5'UTR|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	51					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AAGAAGTTGTTATGCATATGG	0.567																																						dbGAP											0													122.0	120.0	121.0					10																	104596968		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.151A>G	10.37:g.104596968T>C	ENSP00000358903:p.Asn51Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.N51D	ENST00000369887.3	37	c.151	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	T	5.285	0.238016	0.10023	.	.	ENSG00000148795	ENST00000369887	T	0.68181	-0.31	5.37	-5.96	0.02234	.	1.125280	0.06516	N	0.738846	T	0.44891	0.1315	L	0.27053	0.805	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.23797	-1.0178	10	0.35671	T	0.21	.	3.652	0.08206	0.0908:0.1551:0.3822:0.3719	.	51	P05093	CP17A_HUMAN	D	51	ENSP00000358903:N51D	ENSP00000358903:N51D	N	-	1	0	CYP17A1	104586958	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.949000	0.03893	-0.924000	0.03780	-1.498000	0.00962	AAC	CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000148795		0.567	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	318	0.00	0	T	NM_000102		104596968	104596968	-1	no_errors	ENST00000369887	ensembl	human	known	69_37n	missense	158	37.89	97	SNP	0.000	C
CYP1B1-AS1	285154	genome.wustl.edu	37	2	38408255	38408255	+	RNA	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:38408255C>T	ENST00000413828.2	+	0	1015					NR_027252.1				CYP1B1 antisense RNA 1																		TTTACACTGACGCCAAGAATT	0.423																																						dbGAP											0																																										-	-	-			0			BC031410		2p22.2	2012-10-12	2012-08-15	2011-04-28	ENSG00000232973	ENSG00000232973		"""Long non-coding RNAs"""	28543	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 58"", ""CYP1B1 antisense RNA 1 (non-protein coding)"""	C2orf58		12477932	Standard	NR_027252		Approved	MGC34824	uc010faj.2		OTTHUMG00000128569		2.37:g.38408255C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000413828.2	37	NULL		2																																																																																			CYP1B1-AS1	-	-	ENSG00000232973		0.423	CYP1B1-AS1-001	KNOWN	basic	antisense	CYP1B1-AS1	HGNC	antisense	OTTHUMT00000250420.2	36	0.00	0	C			38408255	38408255	+1	no_errors	ENST00000413828	ensembl	human	known	69_37n	rna	19	45.71	16	SNP	0.000	T
CYP2S1	29785	genome.wustl.edu	37	19	41699228	41699228	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:41699228C>T	ENST00000310054.4	+	1	275	c.59C>T	c.(58-60)aCg>aTg	p.T20M	CYP2S1_ENST00000542619.1_5'UTR|RN7SL718P_ENST00000581254.1_RNA	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	20					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						ctgctgctgacgctggcgctg	0.751																																						dbGAP											0													5.0	7.0	6.0					19																	41699228		2033	3934	5967	-	-	-	SO:0001583	missense	0			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.59C>T	19.37:g.41699228C>T	ENSP00000308032:p.Thr20Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZ66	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.T20M	ENST00000310054.4	37	c.59	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520057	0.44866	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.70749	-0.51	3.6	-1.35	0.09114	.	2.541830	0.01866	U	0.036916	T	0.37812	0.1017	N	0.08118	0	0.20873	N	0.999839	P	0.39326	0.668	B	0.22601	0.04	T	0.37103	-0.9720	10	0.17832	T	0.49	.	0.4022	0.00427	0.2195:0.343:0.1882:0.2493	.	20	Q96SQ9	CP2S1_HUMAN	M	20	ENSP00000308032:T20M	ENSP00000301173:T20M	T	+	2	0	CYP2S1	46391068	0.000000	0.05858	0.002000	0.10522	0.783000	0.44284	0.234000	0.17930	-0.018000	0.14079	0.484000	0.47621	ACG	CYP2S1	-	prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like	ENSG00000167600		0.751	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	13	0.00	0	C			41699228	41699228	+1	no_errors	ENST00000310054	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.004	T
CYP4A11	1579	genome.wustl.edu	37	1	47406941	47406941	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:47406941G>T	ENST00000310638.4	-	1	196	c.165C>A	c.(163-165)ccC>ccA	p.P55P	CYP4A11_ENST00000371904.4_Silent_p.P55P|CYP4A11_ENST00000371905.1_Silent_p.P55P|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000462347.1_Silent_p.P55P	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	55					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GCCAGTGGGAGGGAGGGCACG	0.597																																						dbGAP											0													64.0	57.0	59.0					1																	47406941		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.165C>A	1.37:g.47406941G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.P55	ENST00000310638.4	37	c.165	CCDS543.1	1																																																																																			CYP4A11	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000187048		0.597	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4A11	HGNC	protein_coding	OTTHUMT00000022022.1	88	0.00	0	G	NM_000778		47406941	47406941	-1	no_errors	ENST00000371904	ensembl	human	known	69_37n	silent	43	46.91	38	SNP	0.022	T
CYSLTR1	10800	genome.wustl.edu	37	X	77528736	77528736	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:77528736T>C	ENST00000373304.3	-	3	800	c.508A>G	c.(508-510)Aat>Gat	p.N170D		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	170					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CACTTGGTATTATTTTTCTCA	0.358																																						dbGAP											0													58.0	54.0	55.0					X																	77528736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.508A>G	X.37:g.77528736T>C	ENSP00000362401:p.Asn170Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.N170D	ENST00000373304.3	37	c.508	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	t	3.909	-0.020425	0.07634	.	.	ENSG00000173198	ENST00000373304	T	0.36520	1.25	4.66	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.278041	0.39020	N	0.001491	T	0.21921	0.0528	L	0.31664	0.95	0.23795	N	0.996828	B	0.30973	0.302	B	0.30251	0.113	T	0.18461	-1.0336	10	0.15499	T	0.54	.	9.2863	0.37760	0.0:0.0:0.3402:0.6598	.	170	Q9Y271	CLTR1_HUMAN	D	170	ENSP00000362401:N170D	ENSP00000362401:N170D	N	-	1	0	CYSLTR1	77415392	1.000000	0.71417	0.950000	0.38849	0.583000	0.36354	4.833000	0.62766	0.449000	0.26747	0.378000	0.23410	AAT	CYSLTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173198		0.358	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	171	0.00	0	T			77528736	77528736	-1	no_errors	ENST00000373304	ensembl	human	known	69_37n	missense	116	46.79	102	SNP	0.886	C
CYSLTR1	10800	genome.wustl.edu	37	X	77529168	77529168	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:77529168A>G	ENST00000373304.3	-	3	368	c.76T>C	c.(76-78)Tat>Cat	p.Y26H		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	26					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGGTGGAATACACTTGATTG	0.418																																						dbGAP											0													173.0	134.0	147.0					X																	77529168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.76T>C	X.37:g.77529168A>G	ENSP00000362401:p.Tyr26His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.Y26H	ENST00000373304.3	37	c.76	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	a	18.53	3.644571	0.67358	.	.	ENSG00000173198	ENST00000373304	T	0.37584	1.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	N	0.08118	0	0.43152	D	0.994924	D	0.89917	1.0	D	0.85130	0.997	T	0.47182	-0.9137	10	0.87932	D	0	.	10.9063	0.47081	1.0:0.0:0.0:0.0	.	26	Q9Y271	CLTR1_HUMAN	H	26	ENSP00000362401:Y26H	ENSP00000362401:Y26H	Y	-	1	0	CYSLTR1	77415824	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.965000	0.93393	1.467000	0.48044	0.368000	0.22195	TAT	CYSLTR1	-	prints_Cyst_leuk_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000173198		0.418	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	309	0.00	0	A			77529168	77529168	-1	no_errors	ENST00000373304	ensembl	human	known	69_37n	missense	207	40.86	143	SNP	0.999	G
CYTH3	9265	genome.wustl.edu	37	7	6204474	6204474	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:6204474G>A	ENST00000350796.3	-	0	1437				CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGCTTGCACCGCAGGGCGACT	0.662																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.*101C>T	7.37:g.6204474G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2N8	RNA	SNP	-	NULL	ENST00000350796.3	37	NULL	CCDS5346.1	7																																																																																			CYTH3	-	-	ENSG00000008256		0.662	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	121	0.00	0	G	NM_004227		6204474	6204474	-1	no_errors	ENST00000465320	ensembl	human	known	69_37n	rna	76	30.91	34	SNP	0.000	A
DAAM2	23500	genome.wustl.edu	37	6	39855321	39855321	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:39855321G>A	ENST00000398904.2	+	16	2195	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	RP11-61I13.3_ENST00000607675.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|DAAM2_ENST00000274867.4_Silent_p.S671S|RP11-61I13.3_ENST00000606829.1_RNA|RP11-61I13.3_ENST00000607215.1_RNA|DAAM2_ENST00000538976.1_Silent_p.S671S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	671	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGAGCTGTCGGTCATTGATG	0.532																																						dbGAP											0													70.0	75.0	73.0					6																	39855321		1950	4145	6095	-	-	-	SO:0001819	synonymous_variant	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2013G>A	6.37:g.39855321G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.S671	ENST00000398904.2	37	c.2013	CCDS56426.1	6																																																																																			DAAM2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000146122		0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	218	0.46	1	G			39855321	39855321	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	silent	143	35.59	79	SNP	0.009	A
DAB2IP	153090	genome.wustl.edu	37	9	124530894	124530894	+	Silent	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:124530894C>G	ENST00000408936.3	+	10	2063	c.1881C>G	c.(1879-1881)gcC>gcG	p.A627A	DAB2IP_ENST00000309989.1_Silent_p.A503A|DAB2IP_ENST00000259371.2_Silent_p.A599A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	627					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCTGGGAGGCCGTCAGCCAGC	0.627																																						dbGAP											0													43.0	46.0	45.0					9																	124530894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1881C>G	9.37:g.124530894C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.A627	ENST00000408936.3	37	c.1881		9																																																																																			DAB2IP	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000136848		0.627	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	61	0.00	0	C	NM_032552		124530894	124530894	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	silent	38	32.14	18	SNP	0.335	G
DAP3	7818	genome.wustl.edu	37	1	155701169	155701169	+	Missense_Mutation	SNP	T	T	G	rs200201625		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155701169T>G	ENST00000368336.5	+	10	990	c.866T>G	c.(865-867)cTt>cGt	p.L289R	MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.L248R|DAP3_ENST00000535183.1_Missense_Mutation_p.L248R|DAP3_ENST00000421487.2_Missense_Mutation_p.L255R|DAP3_ENST00000343043.3_Missense_Mutation_p.L289R|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	289					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GAATTAGCACTTGTTCACAAC	0.373																																						dbGAP											0													143.0	135.0	138.0					1																	155701169		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.866T>G	1.37:g.155701169T>G	ENSP00000357320:p.Leu289Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit	p.L289R	ENST00000368336.5	37	c.866	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597130	0.66332	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.1	5.1	0.69264	.	0.072045	0.56097	D	0.000036	T	0.68732	0.3033	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.993;0.993	D;D;D;D	0.71184	0.95;0.962;0.962;0.972	T	0.75499	-0.3296	10	0.87932	D	0	-7.3382	14.0214	0.64558	0.0:0.0:0.0:1.0	.	248;255;255;289	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	R	289;289;255;248	ENSP00000357320:L289R;ENSP00000341692:L289R;ENSP00000412605:L255R;ENSP00000445003:L248R	ENSP00000341692:L289R	L	+	2	0	DAP3	153967793	0.897000	0.30589	0.053000	0.19242	0.719000	0.41307	5.916000	0.69981	2.137000	0.66172	0.460000	0.39030	CTT	DAP3	-	pfam_Ribosomal_S23/S29_mit	ENSG00000132676		0.373	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	252	0.00	0	T	NM_004632		155701169	155701169	+1	no_errors	ENST00000343043	ensembl	human	known	69_37n	missense	510	16.78	103	SNP	0.750	G
DARS2	55157	genome.wustl.edu	37	1	173808666	173808666	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:173808666C>T	ENST00000361951.4	+	10	1729	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	334					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ATAAACCTGACACTCGCTTTG	0.418																																						dbGAP											0													140.0	128.0	132.0					1																	173808666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1002C>T	1.37:g.173808666C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA-helicase,superfamily_GAD_dom,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-synth_IIb_bac/mt	p.D334	ENST00000361951.4	37	c.1002	CCDS1311.1	1																																																																																			DARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-synth_IIb_bac/mt	ENSG00000117593		0.418	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	294	0.00	0	C	NM_018122		173808666	173808666	+1	no_errors	ENST00000361951	ensembl	human	known	69_37n	silent	589	15.74	110	SNP	0.998	T
DBX1	120237	genome.wustl.edu	37	11	20177892	20177892	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:20177892C>T	ENST00000524983.2	-	4	1188	c.900G>A	c.(898-900)ctG>ctA	p.L300L	DBX1_ENST00000227256.3_Silent_p.L339L			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	300					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GCGGGTCCCGCAGGTGCTGGG	0.721																																						dbGAP											0													16.0	22.0	20.0					11																	20177892		2173	4247	6420	-	-	-	SO:0001819	synonymous_variant	0					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.900G>A	11.37:g.20177892C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.L339	ENST00000524983.2	37	c.1017		11																																																																																			DBX1	-	NULL	ENSG00000109851		0.721	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	37	0.00	0	C	NM_001029865		20177892	20177892	-1	no_errors	ENST00000227256	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.976	T
DCAF17	80067	genome.wustl.edu	37	2	172325520	172325520	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:172325520G>A	ENST00000375255.3	+	9	1288	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	DCAF17_ENST00000539783.1_Missense_Mutation_p.A321T|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	321					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CCATATTTGTGCCCTAAAAGA	0.393																																						dbGAP											0													88.0	89.0	88.0					2																	172325520		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.961G>A	2.37:g.172325520G>A	ENSP00000364404:p.Ala321Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	NULL	p.A321T	ENST00000375255.3	37	c.961	CCDS2243.2	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956813	0.92726	.	.	ENSG00000115827	ENST00000375255;ENST00000539783;ENST00000429466	T;T	0.50001	0.91;0.76	5.85	4.92	0.64577	.	0.056710	0.64402	D	0.000001	T	0.38348	0.1037	L	0.36672	1.1	0.43385	D	0.995496	B;B	0.33940	0.433;0.433	B;B	0.33454	0.164;0.164	T	0.35226	-0.9797	10	0.62326	D	0.03	-10.5017	12.2455	0.54568	0.0:0.0:0.6737:0.3263	.	321;321	F5H7W1;Q5H9S7	.;DCA17_HUMAN	T	321;321;71	ENSP00000364404:A321T;ENSP00000442238:A321T	ENSP00000364404:A321T	A	+	1	0	DCAF17	172033766	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.250000	0.43178	2.773000	0.95371	0.585000	0.79938	GCC	DCAF17	-	NULL	ENSG00000115827		0.393	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	166	0.00	0	G	NM_025000		172325520	172325520	+1	no_errors	ENST00000375255	ensembl	human	known	69_37n	missense	90	36.62	52	SNP	1.000	A
DCAF4L2	138009	genome.wustl.edu	37	8	88885903	88885903	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:88885903G>A	ENST00000319675.3	-	1	393	c.297C>T	c.(295-297)taC>taT	p.Y99Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	99										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGATGATGCCGTACTTGGAGC	0.547																																						dbGAP											0													160.0	148.0	152.0					8																	88885903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.297C>T	8.37:g.88885903G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y99	ENST00000319675.3	37	c.297	CCDS6245.1	8																																																																																			DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.547	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	305	0.00	0	G	NM_152418		88885903	88885903	-1	no_errors	ENST00000319675	ensembl	human	known	69_37n	silent	221	31.58	102	SNP	0.999	A
DCAF6	55827	genome.wustl.edu	37	1	167960473	167960473	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:167960473C>T	ENST00000312263.6	+	6	788	c.584C>T	c.(583-585)aCg>aTg	p.T195M	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.T195M|DCAF6_ENST00000432587.2_Missense_Mutation_p.T164M|DCAF6_ENST00000367840.3_Missense_Mutation_p.T195M	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	195					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CGTGCTGCCACGTCTGTTGCT	0.368																																						dbGAP											0													141.0	127.0	132.0					1																	167960473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.584C>T	1.37:g.167960473C>T	ENSP00000311949:p.Thr195Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.T195M	ENST00000312263.6	37	c.584	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030166	0.93575	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048575	0.85682	D	0.000000	T	0.75968	0.3922	M	0.73217	2.22	0.46749	D	0.999184	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.71902	-0.4452	9	0.40728	T	0.16	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	164;195;195;195	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	M	195;164;195;195	ENSP00000356817:T195M;ENSP00000396238:T164M;ENSP00000311949:T195M;ENSP00000356814:T195M	ENSP00000311949:T195M	T	+	2	0	DCAF6	166227097	1.000000	0.71417	0.970000	0.41538	0.884000	0.51177	7.348000	0.79366	2.843000	0.97960	0.585000	0.79938	ACG	DCAF6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143164		0.368	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	349	0.00	0	C	NM_018442		167960473	167960473	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	missense	681	20.63	177	SNP	1.000	T
DCHS2	54798	genome.wustl.edu	37	4	155219190	155219190	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:155219190T>C	ENST00000357232.4	-	18	4910	c.4911A>G	c.(4909-4911)gaA>gaG	p.E1637E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1637	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAATTGAATTTCTCCTGTGT	0.438																																						dbGAP											0													69.0	71.0	70.0					4																	155219190		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4911A>G	4.37:g.155219190T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E1637	ENST00000357232.4	37	c.4911	CCDS3785.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.438	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	129	0.00	0	T	NM_001142552		155219190	155219190	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	silent	89	35.04	48	SNP	0.460	C
DCHS2	54798	genome.wustl.edu	37	4	155237076	155237076	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:155237076A>G	ENST00000357232.4	-	15	3718	c.3719T>C	c.(3718-3720)cTg>cCg	p.L1240P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1240	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCAGTGCCAGAACAGTCAG	0.398																																						dbGAP											0													130.0	124.0	126.0					4																	155237076		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3719T>C	4.37:g.155237076A>G	ENSP00000349768:p.Leu1240Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L1240P	ENST00000357232.4	37	c.3719	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	14.48	2.547347	0.45383	.	.	ENSG00000197410	ENST00000357232	T	0.40225	1.04	5.25	4.05	0.47172	Cadherin (5);Cadherin-like (1);	0.248894	0.27189	N	0.020516	T	0.61009	0.2313	M	0.86740	2.835	0.23180	N	0.99816	D	0.61080	0.989	P	0.58077	0.832	T	0.56860	-0.7909	10	0.30854	T	0.27	.	11.7421	0.51799	0.8678:0.0:0.0:0.1322	.	1240	Q6V1P9	PCD23_HUMAN	P	1240	ENSP00000349768:L1240P	ENSP00000349768:L1240P	L	-	2	0	DCHS2	155456526	0.000000	0.05858	0.647000	0.29507	0.691000	0.40173	0.946000	0.29069	0.922000	0.37019	0.377000	0.23210	CTG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000197410		0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	523	0.00	0	A	NM_001142552		155237076	155237076	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	344	38.50	216	SNP	0.375	G
DCHS2	54798	genome.wustl.edu	37	4	155410968	155410968	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:155410968C>T	ENST00000339452.1	-	1	1900	c.1540G>A	c.(1540-1542)Gcg>Acg	p.A514T	DCHS2_ENST00000456341.2_Missense_Mutation_p.A507T|DCHS2_ENST00000443500.1_Missense_Mutation_p.A514T	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1660	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGGACCCCGCGTCCGTGGCC	0.632																																						dbGAP											0													51.0	56.0	55.0					4																	155410968		692	1591	2283	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1540G>A	4.37:g.155410968C>T	ENSP00000345062:p.Ala514Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A514T	ENST00000339452.1	37	c.1540	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	C	1.734	-0.493521	0.04322	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.52754	0.65;0.65;0.65	4.79	1.85	0.25348	.	.	.	.	.	T	0.28400	0.0702	L	0.35793	1.09	0.09310	N	1	B;B	0.32717	0.231;0.381	B;B	0.25884	0.064;0.049	T	0.13335	-1.0513	9	0.13853	T	0.58	.	4.8657	0.13607	0.4101:0.4256:0.0:0.1643	.	514;514	E9PG03;E9PC11	.;.	T	514;514;507;514	ENSP00000345062:A514T;ENSP00000408543:A507T;ENSP00000395539:A514T	ENSP00000345062:A514T	A	-	1	0	DCHS2	155630418	0.000000	0.05858	0.162000	0.22713	0.065000	0.16274	-0.082000	0.11304	0.565000	0.29255	0.563000	0.77884	GCG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.632	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	77	0.00	0	C	NM_001142552		155410968	155410968	-1	no_errors	ENST00000339452	ensembl	human	known	69_37n	missense	46	35.62	26	SNP	0.001	T
DCX	1641	genome.wustl.edu	37	X	110574209	110574209	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:110574209G>A	ENST00000338081.3	-	5	1283	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L	DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.P290L|DCX_ENST00000488120.1_Missense_Mutation_p.P290L|DCX_ENST00000356915.2_Missense_Mutation_p.P290L|DCX_ENST00000356220.3_Missense_Mutation_p.P290L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	371	Pro/Ser-rich.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGTCTTCTGAGGTGTTGGGGA	0.527																																						dbGAP											0													262.0	213.0	229.0					X																	110574209		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1112C>T	X.37:g.110574209G>A	ENSP00000337697:p.Pro371Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.P371L	ENST00000338081.3	37	c.1112	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.831217|1.831217	0.32329|0.32329	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.|T;T;T;T;T	.|0.24908	.|1.95;1.86;1.83;1.95;1.86	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.406531	.|0.25372	.|N	.|0.031159	T|T	0.16471|0.16471	0.0396|0.0396	N|N	0.12182|0.12182	0.205|0.205	0.46901|0.46901	D|D	0.999243|0.999243	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.10450	.|0.005;0.0	T|T	0.04360|0.04360	-1.0957|-1.0957	5|10	.|0.49607	.|T	.|0.09	.|.	13.2138|13.2138	0.59844|0.59844	0.0:0.0:0.8411:0.1589|0.0:0.0:0.8411:0.1589	.|.	.|359;371	.|B4DM53;O43602	.|.;DCX_HUMAN	F|L	363|290;290;371;290;290	.|ENSP00000349385:P290L;ENSP00000361061:P290L;ENSP00000337697:P371L;ENSP00000348553:P290L;ENSP00000419861:P290L	.|ENSP00000337697:P371L	L|P	-|-	1|2	0|0	DCX|DCX	110460865|110460865	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	4.573000|4.573000	0.60893|0.60893	2.238000|2.238000	0.73509|0.73509	0.594000|0.594000	0.82650|0.82650	CTC|CCT	DCX	-	pirsf_Doublecortin_chordata	ENSG00000077279		0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	713	0.14	1	G	NM_178153		110574209	110574209	-1	no_errors	ENST00000338081	ensembl	human	known	69_37n	missense	445	35.51	245	SNP	0.987	A
DDB1	1642	genome.wustl.edu	37	11	61081077	61081077	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:61081077G>A	ENST00000301764.7	-	16	2360	c.1963C>T	c.(1963-1965)Cgc>Tgc	p.R655C	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	655	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ACAGTGGGGCGGTCAGAACAA	0.483								Nucleotide excision repair (NER)																														dbGAP											0													138.0	130.0	133.0					11																	61081077		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1963C>T	11.37:g.61081077G>A	ENSP00000301764:p.Arg655Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R655C	ENST00000301764.7	37	c.1963	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.211015	0.95069	.	.	ENSG00000167986	ENST00000301764;ENST00000535147;ENST00000537877	T;T	0.32753	1.44;1.44	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73433	-0.3984	10	0.87932	D	0	-21.8531	20.2985	0.98592	0.0:0.0:1.0:0.0	.	655	Q16531	DDB1_HUMAN	C	655;122;219	ENSP00000301764:R655C;ENSP00000444650:R122C	ENSP00000301764:R655C	R	-	1	0	DDB1	60837653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.841000	0.86834	2.793000	0.96121	0.655000	0.94253	CGC	DDB1	-	NULL	ENSG00000167986		0.483	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	360	0.00	0	G	NM_001923		61081077	61081077	-1	no_errors	ENST00000301764	ensembl	human	known	69_37n	missense	241	37.21	144	SNP	1.000	A
DDIT4L	115265	genome.wustl.edu	37	4	101108933	101108933	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:101108933G>A	ENST00000273990.2	-	3	697	c.483C>T	c.(481-483)tcC>tcT	p.S161S	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	161			S -> F (in dbSNP:rs11553154).		negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TGAAACCAGAGGAGAAGCGAC	0.428																																						dbGAP											0													83.0	86.0	85.0					4																	101108933		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.483C>T	4.37:g.101108933G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7C3	Silent	SNP	pfam_RTP801-like	p.S161	ENST00000273990.2	37	c.483	CCDS34036.1	4																																																																																			DDIT4L	-	pfam_RTP801-like	ENSG00000145358		0.428	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4L	HGNC	protein_coding	OTTHUMT00000363423.1	139	0.00	0	G	NM_145244		101108933	101108933	-1	no_errors	ENST00000273990	ensembl	human	known	69_37n	silent	109	33.13	54	SNP	0.009	A
DDX18	8886	genome.wustl.edu	37	2	118577295	118577295	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:118577295A>G	ENST00000263239.2	+	3	569	c.441A>G	c.(439-441)acA>acG	p.T147T	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	147					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTAAAGAAACAGAAAATAATG	0.398											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													74.0	73.0	74.0					2																	118577295		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.441A>G	2.37:g.118577295A>G		Somatic	1489	WXS	Illumina GAIIx	Phase_IV	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T147	ENST00000263239.2	37	c.441	CCDS2120.1	2																																																																																			DDX18	-	NULL	ENSG00000088205		0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	292	0.00	0	A	NM_006773		118577295	118577295	+1	no_errors	ENST00000263239	ensembl	human	known	69_37n	silent	198	40.00	132	SNP	0.051	G
DDX26B	203522	genome.wustl.edu	37	X	134683685	134683685	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:134683685G>C	ENST00000370752.4	+	7	1195	c.861G>C	c.(859-861)tgG>tgC	p.W287C	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	287										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGACATTGGCCAATTCCAG	0.373																																						dbGAP											0													187.0	175.0	179.0					X																	134683685		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.861G>C	X.37:g.134683685G>C	ENSP00000359788:p.Trp287Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.W287C	ENST00000370752.4	37	c.861	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723878	0.68959	.	.	ENSG00000165359	ENST00000370752	T	0.57752	0.38	5.61	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82847	-0.0255	10	0.87932	D	0	-4.6589	12.9525	0.58409	0.0799:0.0:0.9201:0.0	.	287	Q5JSJ4	DX26B_HUMAN	C	287	ENSP00000359788:W287C	ENSP00000359788:W287C	W	+	3	0	DDX26B	134511351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.822000	0.99363	1.139000	0.42245	0.594000	0.82650	TGG	DDX26B	-	NULL	ENSG00000165359		0.373	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	241	0.00	0	G	NM_182540		134683685	134683685	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	215	36.58	124	SNP	1.000	C
DDX26B	203522	genome.wustl.edu	37	X	134713877	134713877	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:134713877A>C	ENST00000370752.4	+	15	2507	c.2173A>C	c.(2173-2175)Agc>Cgc	p.S725R	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	725										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CACAAGTCTCAGCAAAGATGG	0.448																																						dbGAP											0													81.0	73.0	76.0					X																	134713877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.2173A>C	X.37:g.134713877A>C	ENSP00000359788:p.Ser725Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	pfscan_VWF_A	p.S725R	ENST00000370752.4	37	c.2173	CCDS35401.1	X	.	.	.	.	.	.	.	.	.	.	A	0.811	-0.751879	0.03041	.	.	ENSG00000165359	ENST00000370752	T	0.30981	1.51	5.67	1.88	0.25563	.	0.492517	0.26792	N	0.022465	T	0.11879	0.0289	N	0.10707	0.03	0.21802	N	0.999532	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32052	-0.9921	10	0.12103	T	0.63	-0.0245	5.8671	0.18781	0.7115:0.1382:0.1504:0.0	.	725;725	B9EIK3;Q5JSJ4	.;DX26B_HUMAN	R	725	ENSP00000359788:S725R	ENSP00000359788:S725R	S	+	1	0	DDX26B	134541543	0.989000	0.36119	0.045000	0.18777	0.038000	0.13279	2.296000	0.43584	0.034000	0.15491	0.486000	0.48141	AGC	DDX26B	-	NULL	ENSG00000165359		0.448	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	210	0.00	0	A	NM_182540		134713877	134713877	+1	no_errors	ENST00000370752	ensembl	human	known	69_37n	missense	144	36.84	84	SNP	0.736	C
DDX43	55510	genome.wustl.edu	37	6	74104723	74104723	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:74104723C>T	ENST00000370336.4	+	1	253	c.95C>T	c.(94-96)gCg>gTg	p.A32V	snoU13_ENST00000459178.1_RNA|DDX43_ENST00000539829.1_Missense_Mutation_p.A32V|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	32					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGAGGCCGGCGGAGGAGTTG	0.647																																						dbGAP											0													57.0	64.0	62.0					6																	74104723		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.95C>T	6.37:g.74104723C>T	ENSP00000359361:p.Ala32Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E0C8|Q6NXR1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A32V	ENST00000370336.4	37	c.95	CCDS4977.1	6	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256646	0.22965	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.49720	2.29;0.77	3.78	0.798	0.18660	.	0.937374	0.08819	N	0.888991	T	0.10380	0.0254	N	0.25485	0.75	0.09310	N	1	P	0.43662	0.814	B	0.30943	0.122	T	0.11446	-1.0587	10	0.29301	T	0.29	.	6.4079	0.21674	0.3082:0.5943:0.0:0.0975	.	32	Q9NXZ2	DDX43_HUMAN	V	32	ENSP00000359361:A32V;ENSP00000441636:A32V	ENSP00000359361:A32V	A	+	2	0	DDX43	74161444	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.400000	0.07241	-0.077000	0.12752	-1.644000	0.00765	GCG	DDX43	-	NULL	ENSG00000080007		0.647	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3	67	0.00	0	C	NM_018665		74104723	74104723	+1	no_errors	ENST00000370336	ensembl	human	known	69_37n	missense	51	35.37	29	SNP	0.000	T
DDX59	83479	genome.wustl.edu	37	1	200594042	200594042	+	Frame_Shift_Del	DEL	T	T	-	rs544875711	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:200594042delT	ENST00000447706.2	-	8	1881	c.1730delA	c.(1729-1731)aatfs	p.N577fs				Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.N577fs*>4(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GGAAGAACAATTTTTTTTAAG	0.373																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											107.0	97.0	101.0					1																	200594042		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000447706.2:c.1730delA	1.37:g.200594042delT	ENSP00000394367:p.Asn577fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJL2|Q8IVW3|Q9H0W3	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.N577fs	ENST00000447706.2	37	c.1730		1																																																																																			DDX59	-	pfscan_Helicase_C	ENSG00000118197		0.373	DDX59-001	KNOWN	basic	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086882.3	321	0.00	0	T	NM_001031725.4		200594042	200594042	-1	no_errors	ENST00000447706	ensembl	human	known	69_37n	frame_shift_del	625	16.47	124	DEL	0.001	-
DEFB118	117285	genome.wustl.edu	37	20	29960672	29960672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:29960672delA	ENST00000253381.2	+	2	104	c.71delA	c.(70-72)gaafs	p.E24fs		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	24					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TATAGTGGTGAAAAAAAATGC	0.398																																						dbGAP											0										2,5,4257		0,0,2,0,5,2125	73.0	72.0	72.0			-3.9	0.0	20		72	1,3,8250		0,0,1,0,3,4123	no	codingComplex	DEFB118	NM_054112.2		0,0,3,0,8,6248	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.1642,0.0879			29960672	3,8,12507	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.71delA	20.37:g.29960672delA	ENSP00000253381:p.Glu24fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC4|Q8N691|Q9NUH0	Frame_Shift_Del	DEL	NULL	p.K26fs	ENST00000253381.2	37	c.71	CCDS13177.1	20																																																																																			DEFB118	-	NULL	ENSG00000131068		0.398	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB118	HGNC	protein_coding	OTTHUMT00000078501.2	204	0.00	0	A	NM_054112		29960672	29960672	+1	no_errors	ENST00000253381	ensembl	human	known	69_37n	frame_shift_del	142	38.98	92	DEL	0.000	-
DEGS1	8560	genome.wustl.edu	37	1	224380050	224380050	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:224380050C>T	ENST00000323699.4	+	3	1008	c.842C>T	c.(841-843)gCt>gTt	p.A281V	DEGS1_ENST00000391877.3_Missense_Mutation_p.A281V	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	281					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AAAATAGCAGCTGAATACTAT	0.368																																						dbGAP											0													87.0	80.0	82.0					1																	224380050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.842C>T	1.37:g.224380050C>T	ENSP00000316476:p.Ala281Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.A281V	ENST00000323699.4	37	c.842	CCDS1540.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.150852	0.94645	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.17691	2.26;2.26;2.26	5.85	4.93	0.64822	Fatty acid desaturase, type 1 (1);	0.261318	0.43579	D	0.000553	T	0.37348	0.1000	M	0.83012	2.62	0.48762	D	0.999703	B;P	0.40578	0.293;0.722	P;B	0.48488	0.579;0.308	T	0.38415	-0.9662	10	0.87932	D	0	.	16.6403	0.85070	0.0:0.8658:0.1342:0.0	.	281;260	O15121;E7EMA0	DEGS1_HUMAN;.	V	260;281;281	ENSP00000400545:A260V;ENSP00000316476:A281V;ENSP00000375749:A281V	ENSP00000316476:A281V	A	+	2	0	DEGS1	222446673	0.992000	0.36948	0.947000	0.38551	0.986000	0.74619	5.779000	0.68948	1.440000	0.47531	0.561000	0.74099	GCT	DEGS1	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase	ENSG00000143753		0.368	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS1	HGNC	protein_coding	OTTHUMT00000091285.2	167	0.60	1	C			224380050	224380050	+1	no_errors	ENST00000323699	ensembl	human	known	69_37n	missense	338	20.09	85	SNP	0.878	T
DENND5A	23258	genome.wustl.edu	37	11	9165018	9165018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:9165018G>A	ENST00000328194.3	-	20	3639	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	DENND5A_ENST00000530044.1_Nonsense_Mutation_p.Q1107*|DENND5A_ENST00000527700.1_Nonsense_Mutation_p.Q450*	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1107					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTGGATCTGCCCAGTGTTC	0.527																																						dbGAP											0													189.0	172.0	178.0					11																	9165018		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3319C>T	11.37:g.9165018G>A	ENSP00000328524:p.Gln1107*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.Q1107*	ENST00000328194.3	37	c.3319	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	G	43	10.149933	0.99348	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	.	.	.	X	1107;1107;450	.	ENSP00000328524:Q1107X	Q	-	1	0	DENND5A	9121594	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.897000	0.87356	2.814000	0.96858	0.563000	0.77884	CAG	DENND5A	-	NULL	ENSG00000184014		0.527	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	203	0.00	0	G	NM_015213		9165018	9165018	-1	no_errors	ENST00000328194	ensembl	human	known	69_37n	nonsense	147	36.36	84	SNP	1.000	A
DGCR2	9993	genome.wustl.edu	37	22	19076944	19076944	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:19076944delG	ENST00000263196.7	-	2	386	c.139delC	c.(139-141)ctcfs	p.L47fs	DGCR2_ENST00000545799.1_Frame_Shift_Del_p.L47fs|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	47	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TGCCAGGGGAGGGGGATGCAC	0.622																																						dbGAP											0													88.0	67.0	74.0					22																	19076944		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.139delC	22.37:g.19076944delG	ENSP00000263196:p.Leu47fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB5|A8K6K5|B5TY34|B7Z935	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.L47fs	ENST00000263196.7	37	c.139	CCDS33598.1	22																																																																																			DGCR2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000070413		0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	90	0.00	0	G	NM_005137		19076944	19076944	-1	no_errors	ENST00000263196	ensembl	human	known	69_37n	frame_shift_del	61	35.42	34	DEL	1.000	-
DGKD	8527	genome.wustl.edu	37	2	234356734	234356734	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:234356734T>C	ENST00000264057.2	+	13	1433	c.1421T>C	c.(1420-1422)gTa>gCa	p.V474A	DGKD_ENST00000409813.3_Splice_Site_p.V430A	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	474					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGATTGCAGGTACAGCAGATT	0.542																																						dbGAP											0													104.0	89.0	94.0					2																	234356734		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1420-1T>C	2.37:g.234356734T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V474A	ENST00000264057.2	37	c.1421	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905313	0.33628	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79141	-1.08;-1.24	4.74	3.56	0.40772	.	0.302430	0.26800	N	0.022439	T	0.66197	0.2765	L	0.50333	1.59	0.46725	D	0.999178	B;B;B	0.29590	0.007;0.25;0.013	B;B;B	0.28638	0.017;0.092;0.01	T	0.58081	-0.7699	10	0.02654	T	1	.	10.9093	0.47099	0.1409:0.0:0.0:0.8591	.	358;430;474	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	A	474;430	ENSP00000264057:V474A;ENSP00000386455:V430A	ENSP00000264057:V474A	V	+	2	0	DGKD	234021473	1.000000	0.71417	0.930000	0.37139	0.429000	0.31625	7.759000	0.85235	0.755000	0.32990	0.402000	0.26972	GTA	DGKD	-	NULL	ENSG00000077044		0.542	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	154	0.00	0	T	NM_003648	Missense_Mutation	234356734	234356734	+1	no_errors	ENST00000264057	ensembl	human	known	69_37n	missense	114	35.59	63	SNP	1.000	C
DHRS13	147015	genome.wustl.edu	37	17	27228067	27228067	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:27228067G>A	ENST00000378895.4	-	4	749	c.623C>T	c.(622-624)gCc>gTc	p.A208V	RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000426464.2_Missense_Mutation_p.A127V|DHRS13_ENST00000394901.3_Missense_Mutation_p.A158V	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	208						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAGCTCCCGGGCAAACAGTAC	0.612																																						dbGAP											0													63.0	67.0	65.0					17																	27228067		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.623C>T	17.37:g.27228067G>A	ENSP00000368173:p.Ala208Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BH7	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.A208V	ENST00000378895.4	37	c.623	CCDS11246.2	17	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951053	0.53186	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	D;D;D	0.85861	-2.04;-2.04;-2.04	5.33	0.286	0.15710	NAD(P)-binding domain (1);	0.207020	0.50627	D	0.000105	T	0.79644	0.4481	L	0.56124	1.755	0.34030	D	0.653683	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.005	T	0.77186	-0.2680	10	0.72032	D	0.01	.	10.1056	0.42530	0.3341:0.0:0.6659:0.0	.	127;208	B4DJC5;Q6UX07	.;DHR13_HUMAN	V	208;158;127	ENSP00000368173:A208V;ENSP00000378361:A158V;ENSP00000412826:A127V	ENSP00000368173:A208V	A	-	2	0	DHRS13	24252193	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.032000	0.41127	0.200000	0.20447	0.462000	0.41574	GCC	DHRS13	-	pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	ENSG00000167536		0.612	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS13	HGNC	protein_coding	OTTHUMT00000255952.1	45	0.00	0	G	NM_144683		27228067	27228067	-1	no_errors	ENST00000378895	ensembl	human	known	69_37n	missense	75	24.24	24	SNP	0.990	A
DHX58	79132	genome.wustl.edu	37	17	40262750	40262750	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:40262750G>A	ENST00000251642.3	-	5	774	c.552C>T	c.(550-552)caC>caT	p.H184H		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	184	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTGCAGGACGTGGTTGATGG	0.672																																						dbGAP											0													66.0	69.0	68.0					17																	40262750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.552C>T	17.37:g.40262750G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HAM6	Silent	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H184	ENST00000251642.3	37	c.552	CCDS11416.1	17																																																																																			DHX58	-	smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000108771		0.672	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1	124	0.00	0	G	NM_024119		40262750	40262750	-1	no_errors	ENST00000251642	ensembl	human	known	69_37n	silent	32	51.52	34	SNP	1.000	A
DHX9	1660	genome.wustl.edu	37	1	182841496	182841496	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:182841496C>T	ENST00000367549.3	+	15	1692	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	528	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GGTAGTACTGCGTGATGTTGT	0.323																																					Colon(69;210 1162 3697 13559 39565)	dbGAP											0													193.0	167.0	175.0					1																	182841496		1860	4088	5948	-	-	-	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1582C>T	1.37:g.182841496C>T	ENSP00000356520:p.Arg528Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.R528C	ENST00000367549.3	37	c.1582	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834776	0.71373	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.09350	2.99	5.97	4.98	0.66077	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57808	-0.7747	10	0.87932	D	0	.	17.5283	0.87807	0.1623:0.8377:0.0:0.0	.	528	Q08211	DHX9_HUMAN	C	528	ENSP00000356520:R528C	ENSP00000356520:R528C	R	+	1	0	DHX9	181108119	0.998000	0.40836	1.000000	0.80357	0.973000	0.67179	2.654000	0.46699	2.835000	0.97688	0.591000	0.81541	CGT	DHX9	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000135829		0.323	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	469	0.00	0	C	NM_030588		182841496	182841496	+1	no_errors	ENST00000367549	ensembl	human	known	69_37n	missense	855	19.42	206	SNP	0.989	T
DICER1	23405	genome.wustl.edu	37	14	95578541	95578541	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:95578541G>A	ENST00000526495.1	-	15	2375	c.2084C>T	c.(2083-2085)gCt>gTt	p.A695V	DICER1_ENST00000527414.1_Missense_Mutation_p.A695V|DICER1_ENST00000541352.1_Missense_Mutation_p.A695V|DICER1_ENST00000393063.1_Missense_Mutation_p.A695V|DICER1_ENST00000343455.3_Missense_Mutation_p.A695V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	695	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCAAATGAGAGCTACAACTCT	0.353			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													99.0	94.0	95.0					14																	95578541		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2084C>T	14.37:g.95578541G>A	ENSP00000437256:p.Ala695Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.A695V	ENST00000526495.1	37	c.2084	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.064536	0.93898	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-0.94	5.38	5.38	0.77491	Dicer double-stranded RNA-binding fold (2);	0.112312	0.64402	D	0.000009	D	0.90174	0.6929	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.91272	0.5045	10	0.62326	D	0.03	-16.5477	15.4349	0.75137	0.0:0.1392:0.8608:0.0	.	695	Q9UPY3	DICER_HUMAN	V	695	ENSP00000343745:A695V;ENSP00000437256:A695V;ENSP00000376783:A695V;ENSP00000435681:A695V;ENSP00000444719:A695V	ENSP00000343745:A695V	A	-	2	0	DICER1	94648294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.578000	0.60929	2.504000	0.84457	0.650000	0.86243	GCT	DICER1	-	pfam_Dicer_dsRNA_binding_fold	ENSG00000100697		0.353	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	271	0.00	0	G			95578541	95578541	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	missense	179	40.53	122	SNP	1.000	A
DICER1	23405	genome.wustl.edu	37	14	95597888	95597888	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:95597888A>G	ENST00000526495.1	-	6	687	c.396T>C	c.(394-396)tcT>tcC	p.S132S	DICER1_ENST00000527414.1_Silent_p.S132S|DICER1_ENST00000541352.1_Silent_p.S132S|DICER1_ENST00000393063.1_Silent_p.S132S|DICER1_ENST00000343455.3_Silent_p.S132S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	132	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTTTGTCCAAGATGCATTTA	0.383			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													168.0	156.0	160.0					14																	95597888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.396T>C	14.37:g.95597888A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.S132	ENST00000526495.1	37	c.396	CCDS9931.1	14																																																																																			DICER1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000100697		0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	472	0.21	1	A			95597888	95597888	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	silent	326	35.83	182	SNP	0.997	G
DIEXF	27042	genome.wustl.edu	37	1	210012459	210012459	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:210012459A>T	ENST00000491415.2	+	7	1325	c.1268A>T	c.(1267-1269)gAc>gTc	p.D423V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	423					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AATATTGATGACCACTTCAGG	0.438																																						dbGAP											0													106.0	104.0	104.0					1																	210012459		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1268A>T	1.37:g.210012459A>T	ENSP00000419005:p.Asp423Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd	p.D423V	ENST00000491415.2	37	c.1268	CCDS1493.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.683231|4.683231	0.88542|0.88542	.|.	.|.	ENSG00000117597|ENSG00000117597	ENST00000491415|ENST00000457820	T|.	0.73575|.	-0.76|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87075|0.87075	0.6087|0.6087	H|H	0.95079|0.95079	3.62|3.62	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90708|0.90708	0.4625|0.4625	10|5	0.87932|.	D|.	0|.	-38.3155|-38.3155	14.9948|14.9948	0.71421|0.71421	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	423|.	Q68CQ4|.	DIEXF_HUMAN|.	V|S	423|104	ENSP00000419005:D423V|.	ENSP00000419005:D423V|.	D|T	+|+	2|1	0|0	DIEXF|DIEXF	208079082|208079082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.125000|9.125000	0.94402|0.94402	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	GAC|ACC	DIEXF	-	pfam_Digest_organ_expansion_fac-prd	ENSG00000117597		0.438	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	383	0.00	0	A	NM_014388		210012459	210012459	+1	no_errors	ENST00000491415	ensembl	human	known	69_37n	missense	630	18.26	141	SNP	1.000	T
DISP1	84976	genome.wustl.edu	37	1	223177181	223177181	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:223177181C>T	ENST00000284476.6	+	8	2606	c.2442C>T	c.(2440-2442)agC>agT	p.S814S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	814					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CATTAGATAGCAGTTTTAACA	0.468																																						dbGAP											0													53.0	57.0	56.0					1																	223177181		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2442C>T	1.37:g.223177181C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.S814	ENST00000284476.6	37	c.2442	CCDS1536.1	1																																																																																			DISP1	-	NULL	ENSG00000154309		0.468	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	127	0.00	0	C	NM_032890		223177181	223177181	+1	no_errors	ENST00000284476	ensembl	human	known	69_37n	silent	233	14.02	38	SNP	0.911	T
DISC1	27185	genome.wustl.edu	37	1	231829666	231829666	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:231829666C>T	ENST00000602281.1	+	2	215	c.162C>T	c.(160-162)atC>atT	p.I54I	DISC1_ENST00000317586.4_Silent_p.I54I|DISC1_ENST00000439617.2_Silent_p.I54I|DISC1_ENST00000537876.1_Silent_p.I54I|DISC1_ENST00000366633.3_Silent_p.I54I|DISC1_ENST00000539444.1_Silent_p.I54I|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Silent_p.I54I|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Silent_p.I54I	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	54	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCCTGGGATCGGGTTCCTTT	0.667																																						dbGAP											0													45.0	42.0	43.0					1																	231829666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.162C>T	1.37:g.231829666C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	superfamily_Prefoldin	p.I54	ENST00000602281.1	37	c.162	CCDS59205.1	1																																																																																			DISC1	-	NULL	ENSG00000162946		0.667	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	112	0.88	1	C	NM_018662		231829666	231829666	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	silent	213	18.08	47	SNP	0.025	T
DLG5	9231	genome.wustl.edu	37	10	79554687	79554687	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:79554687C>T	ENST00000372391.2	-	30	5471	c.5466G>A	c.(5464-5466)ccG>ccA	p.P1822P	RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Silent_p.P1482P|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1822	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAATAGCGTGCGGAGCAATGT	0.622																																						dbGAP											0													181.0	157.0	165.0					10																	79554687		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5466G>A	10.37:g.79554687C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.P1822	ENST00000372391.2	37	c.5466	CCDS7353.2	10																																																																																			DLG5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000151208		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	566	0.35	2	C			79554687	79554687	-1	no_errors	ENST00000372391	ensembl	human	known	69_37n	silent	360	41.49	256	SNP	0.426	T
DLGAP5	9787	genome.wustl.edu	37	14	55655899	55655899	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:55655899C>A	ENST00000247191.2	-	2	216		c.e2-1		DLGAP5_ENST00000395425.2_Splice_Site	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAAGACATCCTGTCAAGGAA	0.348																																						dbGAP											0													70.0	63.0	65.0					14																	55655899		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1-1G>T	14.37:g.55655899C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTM6|B4DRM8|Q86T11|Q8NG58	Splice_Site	SNP	-	e1-1	ENST00000247191.2	37	c.1-1	CCDS9723.1	14																																																																																			DLGAP5	-	-	ENSG00000126787		0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	279	0.00	0	C	NM_014750	Intron	55655899	55655899	-1	no_errors	ENST00000247191	ensembl	human	known	69_37n	splice_site	163	38.72	103	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124317700	124317700	+	Missense_Mutation	SNP	T	T	A	rs201579293	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:124317700T>A	ENST00000409039.3	+	26	4256	c.4231T>A	c.(4231-4233)Ttc>Atc	p.F1411I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1411	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAATATGAAATTCACTGTAGT	0.443																																						dbGAP											0													59.0	56.0	57.0					12																	124317700		1928	4148	6076	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4231T>A	12.37:g.124317700T>A	ENSP00000386770:p.Phe1411Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.F1411I	ENST00000409039.3	37	c.4231	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648326	0.87958	.	.	ENSG00000197653	ENST00000409039	T	0.70282	-0.47	5.79	5.79	0.91817	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.87378	0.6162	M	0.91300	3.195	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	D	0.90062	0.4157	9	0.72032	D	0.01	.	16.1806	0.81895	0.0:0.0:0.0:1.0	.	1411	Q8IVF4	DYH10_HUMAN	I	1411	ENSP00000386770:F1411I	ENSP00000386770:F1411I	F	+	1	0	DNAH10	122883653	1.000000	0.71417	0.681000	0.30009	0.905000	0.53344	8.037000	0.88933	2.221000	0.72209	0.529000	0.55759	TTC	DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	195	0.00	0	T			124317700	124317700	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	110	49.31	107	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124419900	124419900	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:124419900G>A	ENST00000409039.3	+	78	13313	c.13288G>A	c.(13288-13290)Gtc>Atc	p.V4430I	RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4430					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGACCCCCGTCTACACCAC	0.547																																						dbGAP											0													116.0	109.0	111.0					12																	124419900		1923	4138	6061	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13288G>A	12.37:g.124419900G>A	ENSP00000386770:p.Val4430Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.V4430I	ENST00000409039.3	37	c.13288	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926333	0.92319	.	.	ENSG00000197653	ENST00000409039	T	0.11385	2.78	5.39	5.39	0.77823	Dynein heavy chain (1);	0.000000	0.64402	D	0.000003	T	0.33904	0.0879	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.02167	-1.1202	10	0.36615	T	0.2	.	17.9454	0.89036	0.0:0.0:1.0:0.0	.	4430	Q8IVF4	DYH10_HUMAN	I	4430	ENSP00000386770:V4430I	ENSP00000386770:V4430I	V	+	1	0	DNAH10	122985853	1.000000	0.71417	0.951000	0.38953	0.727000	0.41649	9.837000	0.99465	2.526000	0.85167	0.561000	0.74099	GTC	DNAH10	-	pfam_Dynein_heavy	ENSG00000197653		0.547	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	313	0.32	1	G			124419900	124419900	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	232	34.65	123	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21840868	21840868	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:21840868C>T	ENST00000409508.3	+	62	10171	c.10140C>T	c.(10138-10140)aaC>aaT	p.N3380N	DNAH11_ENST00000328843.6_Silent_p.N3387N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3387	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTAGCTAACAGACTTGTCA	0.388									Kartagener syndrome																													dbGAP											0													79.0	77.0	78.0					7																	21840868		1884	4119	6003	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10140C>T	7.37:g.21840868C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3387	ENST00000409508.3	37	c.10161		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	277	0.00	0	C	NM_003777		21840868	21840868	+1	no_errors	ENST00000328843	ensembl	human	known	69_37n	silent	174	33.59	88	SNP	0.983	T
DNAH14	127602	genome.wustl.edu	37	1	225533752	225533752	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:225533752delA	ENST00000445597.2	+	48	8079	c.8079delA	c.(8077-8079)acafs	p.T2693fs	DNAH14_ENST00000439375.2_Frame_Shift_Del_p.T3496fs|DNAH14_ENST00000430092.1_Frame_Shift_Del_p.T3496fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2693					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCGAAGCAACAAAAAAAGCTG	0.388																																						dbGAP											0													112.0	85.0	93.0					1																	225533752		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.8079delA	1.37:g.225533752delA	ENSP00000409472:p.Thr2693fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.A3499fs	ENST00000445597.2	37	c.10488		1																																																																																			DNAH14	-	NULL	ENSG00000185842		0.388	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	218	0.00	0	A	XM_059166		225533752	225533752	+1	no_errors	ENST00000430092	ensembl	human	known	69_37n	frame_shift_del	395	16.80	81	DEL	0.508	-
DNAH17	8632	genome.wustl.edu	37	17	76456047	76456047	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76456047G>A	ENST00000585328.1	-	60	9581	c.9457C>T	c.(9457-9459)Ccg>Tcg	p.P3153S	DNAH17_ENST00000389840.5_Missense_Mutation_p.P3144S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3144	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGCATCCGGCGGGGACCCA	0.597																																						dbGAP											0													54.0	46.0	49.0					17																	76456047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9457C>T	17.37:g.76456047G>A	ENSP00000465516:p.Pro3153Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.P3144S	ENST00000585328.1	37	c.9430		17	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347914	0.41599	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81739	-1.53	4.89	4.89	0.63831	.	0.000000	0.56097	D	0.000034	D	0.91240	0.7239	M	0.90483	3.12	0.37590	D	0.920142	D	0.71674	0.998	D	0.68353	0.957	D	0.94287	0.7525	10	0.66056	D	0.02	.	17.6619	0.88195	0.0:0.0:1.0:0.0	.	3153	E7EUM8	.	S	3153;3144	ENSP00000374490:P3144S	ENSP00000300671:P3153S	P	-	1	0	DNAH17	73967642	1.000000	0.71417	0.119000	0.21687	0.019000	0.09904	4.599000	0.61076	2.243000	0.73865	0.511000	0.50034	CCG	DNAH17	-	NULL	ENSG00000187775		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	139	0.00	0	G	NM_173628		76456047	76456047	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	253	19.68	62	SNP	0.858	A
DNAH2	146754	genome.wustl.edu	37	17	7681676	7681676	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7681676C>T	ENST00000572933.1	+	35	6890	c.5430C>T	c.(5428-5430)acC>acT	p.T1810T	DNAH2_ENST00000389173.2_Silent_p.T1810T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1810	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1810T(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCAAGACCGAGACCGTCA	0.572																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											65.0	60.0	62.0					17																	7681676		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5430C>T	17.37:g.7681676C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.T1810	ENST00000572933.1	37	c.5430	CCDS32551.1	17																																																																																			DNAH2	-	smart_AAA+_ATPase	ENSG00000183914		0.572	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	59	0.00	0	C	NM_020877		7681676	7681676	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	silent	55	27.63	21	SNP	0.000	T
DNAH2	146754	genome.wustl.edu	37	17	7705284	7705284	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7705284A>G	ENST00000572933.1	+	58	10381	c.8921A>G	c.(8920-8922)cAc>cGc	p.H2974R	DNAH2_ENST00000389173.2_Missense_Mutation_p.H2974R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2974	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGCGGAGACACAACTATGTC	0.532																																						dbGAP											0													161.0	144.0	150.0					17																	7705284		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8921A>G	17.37:g.7705284A>G	ENSP00000458355:p.His2974Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.H2974R	ENST00000572933.1	37	c.8921	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	A	5.122	0.208109	0.09704	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.41400	1.0	5.51	5.51	0.81932	Dynein heavy chain, P-loop containing D4 domain (1);	0.758233	0.12565	N	0.457866	T	0.36608	0.0973	L	0.41124	1.26	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.10222	-1.0639	10	0.19147	T	0.46	.	14.6006	0.68438	1.0:0.0:0.0:0.0	.	2974	Q9P225	DYH2_HUMAN	R	2974	ENSP00000373825:H2974R	ENSP00000353818:H2974R	H	+	2	0	DNAH2	7646009	1.000000	0.71417	0.900000	0.35374	0.615000	0.37417	6.491000	0.73649	2.114000	0.64651	0.528000	0.53228	CAC	DNAH2	-	NULL	ENSG00000183914		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	332	0.00	0	A	NM_020877		7705284	7705284	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	242	30.06	104	SNP	0.999	G
DNAH17	8632	genome.wustl.edu	37	17	76492000	76492000	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76492000C>T	ENST00000585328.1	-	38	5969	c.5845G>A	c.(5845-5847)Gcc>Acc	p.A1949T	DNAH17_ENST00000389840.5_Missense_Mutation_p.A1940T|RP11-559N14.5_ENST00000591373.1_RNA|DNAH17-AS1_ENST00000598378.1_5'Flank|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1940	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCGCGTCCGGCGTACCCAGGG	0.557																																						dbGAP											0													97.0	98.0	98.0					17																	76492000		2056	4229	6285	-	-	-	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5845G>A	17.37:g.76492000C>T	ENSP00000465516:p.Ala1949Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.A1940T	ENST00000585328.1	37	c.5818		17	.	.	.	.	.	.	.	.	.	.	c	22.4	4.285967	0.80803	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.14022	2.54	4.49	4.49	0.54785	.	.	.	.	.	T	0.49440	0.1557	M	0.94101	3.495	0.53688	D	0.999974	.	.	.	.	.	.	T	0.65076	-0.6256	7	0.87932	D	0	.	17.7846	0.88533	0.0:1.0:0.0:0.0	.	.	.	.	T	1949;1940	ENSP00000374490:A1940T	ENSP00000300671:A1949T	A	-	1	0	DNAH17	74003595	1.000000	0.71417	0.974000	0.42286	0.299000	0.27559	5.767000	0.68850	2.501000	0.84356	0.537000	0.68136	GCC	DNAH17	-	NULL	ENSG00000187775		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	331	0.30	1	C	NM_173628		76492000	76492000	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	missense	610	16.94	125	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13714559	13714559	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:13714559A>G	ENST00000265104.4	-	75	13184	c.13080T>C	c.(13078-13080)gcT>gcC	p.A4360A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4360					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATATCATCAGCCAGCCGGG	0.572									Kartagener syndrome																													dbGAP											0													74.0	75.0	75.0					5																	13714559		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13080T>C	5.37:g.13714559A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A4360	ENST00000265104.4	37	c.13080	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy	ENSG00000039139		0.572	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	64	0.00	0	A	NM_001369		13714559	13714559	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	silent	40	39.39	26	SNP	0.972	G
DNAH5	1767	genome.wustl.edu	37	5	13735431	13735431	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:13735431C>T	ENST00000265104.4	-	68	11675		c.e68-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGACAGACCTGGTGAATAG	0.408									Kartagener syndrome																													dbGAP											0													59.0	52.0	54.0					5																	13735431		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11571-1G>A	5.37:g.13735431C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	-	e68-1	ENST00000265104.4	37	c.11571-1	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756557	0.69648	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13788431	1.000000	0.71417	0.998000	0.56505	0.611000	0.37282	7.679000	0.84048	2.878000	0.98634	0.650000	0.86243	.	DNAH5	-	-	ENSG00000039139		0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	133	0.00	0	C	NM_001369	Intron	13735431	13735431	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	splice_site	117	32.37	56	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13871682	13871682	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:13871682G>T	ENST00000265104.4	-	23	3693	c.3589C>A	c.(3589-3591)Ctg>Atg	p.L1197M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1197	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTGTACAGAGCAATGGAA	0.383									Kartagener syndrome																													dbGAP											0													104.0	112.0	110.0					5																	13871682		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3589C>A	5.37:g.13871682G>T	ENSP00000265104:p.Leu1197Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1197M	ENST00000265104.4	37	c.3589	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934490	0.52866	.	.	ENSG00000039139	ENST00000265104	T	0.27720	1.65	5.99	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.54581	0.1867	M	0.86343	2.81	0.46356	D	0.999004	D	0.71674	0.998	D	0.64687	0.928	T	0.60078	-0.7333	10	0.72032	D	0.01	.	9.9494	0.41630	0.3146:0.0:0.6854:0.0	.	1197	Q8TE73	DYH5_HUMAN	M	1197	ENSP00000265104:L1197M	ENSP00000265104:L1197M	L	-	1	2	DNAH5	13924682	0.990000	0.36364	0.762000	0.31397	0.971000	0.66376	2.051000	0.41307	0.873000	0.35799	0.655000	0.94253	CTG	DNAH5	-	NULL	ENSG00000039139		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	228	0.00	0	G	NM_001369		13871682	13871682	-1	no_errors	ENST00000265104	ensembl	human	known	69_37n	missense	214	12.30	30	SNP	0.619	T
DNAH6	1768	genome.wustl.edu	37	2	84811196	84811196	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:84811196C>T	ENST00000237449.6	+	14	2311	c.2303C>T	c.(2302-2304)aCa>aTa	p.T768I	DNAH6_ENST00000398278.2_Missense_Mutation_p.T768I|DNAH6_ENST00000389394.3_Missense_Mutation_p.T768I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	768	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGGTGCCCACACCTCCTGAA	0.393																																						dbGAP											0													177.0	168.0	171.0					2																	84811196		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2303C>T	2.37:g.84811196C>T	ENSP00000237449:p.Thr768Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.T768I	ENST00000237449.6	37	c.2303	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	9.042	0.989877	0.18966	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.21543	2.0;2.13;2.0	5.73	5.73	0.89815	.	0.000000	0.45126	D	0.000389	T	0.18841	0.0452	L	0.47716	1.5	0.41391	D	0.987616	B;B	0.29988	0.001;0.264	B;B	0.24006	0.002;0.05	T	0.05582	-1.0876	10	0.06494	T	0.89	.	18.6655	0.91488	0.0:1.0:0.0:0.0	.	768;347	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	768	ENSP00000374045:T768I;ENSP00000381326:T768I;ENSP00000237449:T768I	ENSP00000237449:T768I	T	+	2	0	DNAH6	84664707	1.000000	0.71417	0.995000	0.50966	0.487000	0.33371	5.997000	0.70646	2.700000	0.92200	0.591000	0.81541	ACA	DNAH6	-	NULL	ENSG00000115423		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	289	0.00	0	C	NM_001370		84811196	84811196	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	226	36.69	131	SNP	1.000	T
DNAJB14	79982	genome.wustl.edu	37	4	100824995	100824995	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:100824995G>A	ENST00000442697.2	-	7	1057	c.903C>T	c.(901-903)aaC>aaT	p.N301N		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	301						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TGAAGTCCTTGTTGACATAAT	0.308																																						dbGAP											0													89.0	86.0	87.0					4																	100824995		2202	4294	6496	-	-	-	SO:0001819	synonymous_variant	0			BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"""Heat shock proteins / DNAJ (HSP40)"""	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.903C>T	4.37:g.100824995G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Silent	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.N301	ENST00000442697.2	37	c.903	CCDS34035.1	4																																																																																			DNAJB14	-	pfam_DUF1977_DnaJ-like	ENSG00000164031		0.308	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB14	HGNC	protein_coding	OTTHUMT00000253696.2	302	0.00	0	G	NM_001031723.2		100824995	100824995	-1	no_errors	ENST00000442697	ensembl	human	known	69_37n	silent	258	29.16	107	SNP	1.000	A
DNAJC13	23317	genome.wustl.edu	37	3	132235651	132235651	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:132235651A>G	ENST00000260818.6	+	48	5912	c.5664A>G	c.(5662-5664)atA>atG	p.I1888M		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1888					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATAAACTGATAGGTCCAAAGG	0.343																																						dbGAP											0													72.0	67.0	69.0					3																	132235651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.5664A>G	3.37:g.132235651A>G	ENSP00000260818:p.Ile1888Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.I1888M	ENST00000260818.6	37	c.5664	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	A	11.14	1.552001	0.27739	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.17691	2.26	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.124643	0.56097	D	0.000038	T	0.09730	0.0239	N	0.22421	0.69	0.40950	D	0.984538	B	0.29301	0.241	B	0.24155	0.051	T	0.24584	-1.0156	10	0.34782	T	0.22	.	4.6697	0.12683	0.6327:0.0:0.0814:0.2859	.	1888	O75165	DJC13_HUMAN	M	1888;535	ENSP00000260818:I1888M	ENSP00000260818:I1888M	I	+	3	3	DNAJC13	133718341	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.555000	0.36277	2.237000	0.73441	0.528000	0.53228	ATA	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.343	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	289	0.34	1	A	NM_015268		132235651	132235651	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	197	35.62	109	SNP	1.000	G
DNHD1	144132	genome.wustl.edu	37	11	6579372	6579372	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:6579372G>A	ENST00000527990.2	+	23	8847	c.8847G>A	c.(8845-8847)gtG>gtA	p.V2949V	DNHD1_ENST00000254579.6_Silent_p.V2949V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2949					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGTGGTGTGGATCTCACTA	0.562																																						dbGAP											0													87.0	73.0	78.0					11																	6579372		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.8847G>A	11.37:g.6579372G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	NULL	p.W30*	ENST00000527990.2	37	c.89	CCDS44532.1	11																																																																																			DNHD1	-	NULL	ENSG00000179532		0.562	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	115	0.00	0	G	NM_144666		6579372	6579372	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524401	ensembl	human	known	69_37n	nonsense	104	31.37	48	SNP	0.000	A
DNMT1	1786	genome.wustl.edu	37	19	10260314	10260314	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:10260314C>T	ENST00000340748.4	-	25	2588	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D785N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D801N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	785	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGCTGCTGTCCTCCCACAGC	0.592																																						dbGAP											0													106.0	110.0	109.0					19																	10260314		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2353G>A	19.37:g.10260314C>T	ENSP00000345739:p.Asp785Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.D801N	ENST00000340748.4	37	c.2401	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917667	0.73098	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84442	-1.85;-1.85;-1.85	5.82	4.78	0.61160	Bromo adjacent homology (BAH) domain (3);	0.093797	0.64402	N	0.000001	D	0.82572	0.5066	L	0.55481	1.735	0.58432	D	0.999994	B;B;B	0.26975	0.019;0.165;0.024	B;B;B	0.31495	0.055;0.131;0.091	T	0.78986	-0.1987	10	0.33141	T	0.24	.	13.7142	0.62687	0.0:0.9249:0.0:0.0751	.	785;801;785	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	801;785;785;653	ENSP00000352516:D801N;ENSP00000440457:D785N;ENSP00000345739:D785N	ENSP00000345739:D785N	D	-	1	0	DNMT1	10121314	1.000000	0.71417	0.993000	0.49108	0.853000	0.48598	7.476000	0.81055	1.454000	0.47793	0.655000	0.94253	GAC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.592	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	103	0.00	0	C	NM_001379		10260314	10260314	-1	no_errors	ENST00000359526	ensembl	human	known	69_37n	missense	79	35.25	43	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	129231622	129231622	+	Missense_Mutation	SNP	C	C	T	rs571051175		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:129231622C>T	ENST00000280333.6	+	48	5036	c.4927C>T	c.(4927-4929)Cgc>Tgc	p.R1643C		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1643					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCCTCATCCCGCCCTCTGTC	0.612																																						dbGAP											0													113.0	126.0	122.0					10																	129231622		2070	4188	6258	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4927C>T	10.37:g.129231622C>T	ENSP00000280333:p.Arg1643Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.R1643C	ENST00000280333.6	37	c.4927		10	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649722	0.67358	.	.	ENSG00000150760	ENST00000280333	T	0.04317	3.65	5.01	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.17916	0.0430	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.99	T	0.01059	-1.1465	10	0.72032	D	0.01	.	13.1652	0.59567	0.4329:0.5671:0.0:0.0	.	1643;1709;1643	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	C	1643	ENSP00000280333:R1643C	ENSP00000280333:R1643C	R	+	1	0	DOCK1	129121612	0.984000	0.35163	0.958000	0.39756	0.804000	0.45430	2.667000	0.46808	1.315000	0.45114	0.655000	0.94253	CGC	DOCK1	-	NULL	ENSG00000150760		0.612	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	249	0.40	1	C	NM_001380		129231622	129231622	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	160	37.98	98	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	129242509	129242509	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:129242509A>G	ENST00000280333.6	+	50	5425	c.5316A>G	c.(5314-5316)acA>acG	p.T1772T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1772					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTCCAGTTACACCAAGGGCCA	0.572																																						dbGAP											0													86.0	97.0	93.0					10																	129242509		2095	4214	6309	-	-	-	SO:0001819	synonymous_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5316A>G	10.37:g.129242509A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Z5	Silent	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.T1772	ENST00000280333.6	37	c.5316		10																																																																																			DOCK1	-	NULL	ENSG00000150760		0.572	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	294	0.00	0	A	NM_001380		129242509	129242509	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	silent	161	40.07	109	SNP	0.042	G
DOCK4	9732	genome.wustl.edu	37	7	111423966	111423966	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:111423966G>A	ENST00000437633.1	-	33	3700	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	DOCK4_ENST00000428084.1_Silent_p.G1157G|DOCK4_ENST00000494651.2_Silent_p.G31G	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1148					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTAATGAAACGCCACTTTCCC	0.408																																						dbGAP											0													96.0	89.0	91.0					7																	111423966		1844	4086	5930	-	-	-	SO:0001819	synonymous_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3444C>T	7.37:g.111423966G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK,superfamily_Rho_GTPase_activation_prot	p.A609V	ENST00000437633.1	37	c.1826	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965616	0.02249	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	4.77	0.888	0.19206	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	.	6.5591	0.22476	0.3418:0.1203:0.5379:0.0	.	.	.	.	V	609;1181	.	.	A	-	2	0	DOCK4	111211202	0.140000	0.22579	0.998000	0.56505	0.152000	0.21847	-0.630000	0.05502	0.049000	0.15920	-0.140000	0.14226	GCG	DOCK4	-	NULL	ENSG00000128512		0.408	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	240	0.00	0	G	NM_014705		111423966	111423966	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000423057	ensembl	human	putative	69_37n	missense	176	33.82	93	SNP	0.986	A
DOCK6	57572	genome.wustl.edu	37	19	11323971	11323971	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:11323971G>A	ENST00000294618.7	-	35	4383	c.4372C>T	c.(4372-4374)Ctg>Ttg	p.L1458L	DOCK6_ENST00000319867.7_Silent_p.L797L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1458					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCGGCACACAGCTCCGTGTCC	0.657																																						dbGAP											0													34.0	42.0	39.0					19																	11323971		2187	4286	6473	-	-	-	SO:0001819	synonymous_variant	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4372C>T	19.37:g.11323971G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK	p.A746V	ENST00000294618.7	37	c.2237	CCDS45975.1	19																																																																																			DOCK6	-	NULL	ENSG00000130158		0.657	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	36	0.00	0	G	NM_020812		11323971	11323971	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000587656	ensembl	human	novel	69_37n	missense	12	73.33	33	SNP	1.000	A
DONSON	29980	genome.wustl.edu	37	21	34957050	34957050	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:34957050G>A	ENST00000303071.5	-	4	697	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	AP000304.12_ENST00000429238.1_Missense_Mutation_p.P172L|DONSON_ENST00000453626.1_Missense_Mutation_p.R211C|DONSON_ENST00000303113.6_Intron|DONSON_ENST00000432378.1_Missense_Mutation_p.R211C	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	211					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAGGTACAACGGAGCTCAGAG	0.438																																						dbGAP											0													65.0	57.0	59.0					21																	34957050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.631C>T	21.37:g.34957050G>A	ENSP00000307143:p.Arg211Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.R211C	ENST00000303071.5	37	c.631	CCDS13632.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.4|28.4	4.918336|4.918336	0.92249|0.92249	.|.	.|.	ENSG00000159147;ENSG00000249209|ENSG00000159147	ENST00000440810;ENST00000429238|ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	5.99|5.99	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79964|0.79964	0.4537|0.4537	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.991;1.0	T|T	0.82872|0.82872	-0.0242|-0.0242	5|9	.|0.66056	.|D	.|0.02	-35.9361|-35.9361	15.0888|15.0888	0.72177|0.72177	0.0684:0.0:0.9316:0.0|0.0684:0.0:0.9316:0.0	.|.	.|211;211	.|C9J4K5;Q9NYP3	.|.;DONS_HUMAN	L|C	69;172|211	.|.	.|ENSP00000307143:R211C	P|R	-|-	2|1	0|0	DONSON;AP000304.12|DONSON	33878920|33878920	1.000000|1.000000	0.71417|0.71417	0.262000|0.262000	0.24481|0.24481	0.976000|0.976000	0.68499|0.68499	9.183000|9.183000	0.94887|0.94887	1.540000|1.540000	0.49301|0.49301	0.655000|0.655000	0.94253|0.94253	CCG|CGT	DONSON	-	NULL	ENSG00000159147		0.438	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1	124	0.00	0	G	NM_017613		34957050	34957050	-1	no_errors	ENST00000303071	ensembl	human	known	69_37n	missense	95	34.48	50	SNP	0.999	A
DPY19L1	23333	genome.wustl.edu	37	7	34977706	34977706	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:34977706T>C	ENST00000310974.4	-	21	1915	c.1771A>G	c.(1771-1773)Atg>Gtg	p.M591V	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	591						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CGACTATACATTGAGTATACT	0.333																																						dbGAP											0													85.0	74.0	78.0					7																	34977706		1817	4085	5902	-	-	-	SO:0001583	missense	0			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1771A>G	7.37:g.34977706T>C	ENSP00000308695:p.Met591Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.M591V	ENST00000310974.4	37	c.1771	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594018	0.66219	.	.	ENSG00000173852	ENST00000389292;ENST00000310974	T	0.50001	0.76	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	L	0.31371	0.925	0.58432	D	0.999995	P	0.50156	0.932	D	0.67103	0.949	T	0.49244	-0.8960	10	0.23302	T	0.38	-26.4353	15.3426	0.74309	0.0:0.0:0.0:1.0	.	591	Q2PZI1	D19L1_HUMAN	V	1;591	ENSP00000308695:M591V	ENSP00000308695:M591V	M	-	1	0	DPY19L1	34944231	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.131000	0.77243	2.229000	0.72834	0.472000	0.43445	ATG	DPY19L1	-	pfam_Dpy-19	ENSG00000173852		0.333	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	345	0.00	0	T			34977706	34977706	-1	no_errors	ENST00000310974	ensembl	human	known	69_37n	missense	198	36.54	114	SNP	1.000	C
DPY19L2P2	349152	genome.wustl.edu	37	7	102852609	102852609	+	RNA	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:102852609delT	ENST00000312132.4	-	0	3344							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TAAAAATACCTTTTTAAAGAT	0.259																																						dbGAP											0																																										-	-	-			0			AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102852609delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9V4|Q8ND62	RNA	DEL	-	NULL	ENST00000312132.4	37	NULL		7																																																																																			DPY19L2P2	-	-	ENSG00000170629		0.259	DPY19L2P2-002	KNOWN	basic	processed_transcript	DPY19L2P2	HGNC	pseudogene	OTTHUMT00000347877.1	43	0.00	0	T	NM_182634		102852609	102852609	-1	no_errors	ENST00000312132	ensembl	human	known	69_37n	rna	32	42.11	24	DEL	1.000	-
DSCAM	1826	genome.wustl.edu	37	21	41459182	41459182	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:41459182C>A	ENST00000400454.1	-	22	4360	c.3883G>T	c.(3883-3885)Gtg>Ttg	p.V1295L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1295	Ig-like C2-type 10.				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)				GGAGTAGTCACTGTCCCACTG	0.493																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													146.0	142.0	143.0					21																	41459182		2006	4169	6175	-	-	-	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.3883G>T	21.37:g.41459182C>A	ENSP00000383303:p.Val1295Leu	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.V1295L	ENST00000400454.1	37	c.3883	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917658	0.73098	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.29397	1.57;1.57	4.71	4.71	0.59529	Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.28776	0.89	0.44927	D	0.997949	D	0.69078	0.997	D	0.69654	0.965	T	0.17048	-1.0382	10	0.26408	T	0.33	.	18.0505	0.89347	0.0:1.0:0.0:0.0	.	1295	O60469	DSCAM_HUMAN	L	1295;1047	ENSP00000383303:V1295L;ENSP00000385342:V1047L	ENSP00000383303:V1295L	V	-	1	0	DSCAM	40381052	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	5.918000	0.69996	2.316000	0.78162	0.563000	0.77884	GTG	DSCAM	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like	ENSG00000171587		0.493	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	237	0.00	0	C	NM_001389		41459182	41459182	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	150	36.17	85	SNP	0.999	A
DSEL	92126	genome.wustl.edu	37	18	65181126	65181126	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:65181126T>C	ENST00000310045.7	-	2	2223	c.750A>G	c.(748-750)ggA>ggG	p.G250G	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	240					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTATCTACTCCAGTCACCA	0.418																																						dbGAP											0													110.0	107.0	108.0					18																	65181126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.750A>G	18.37:g.65181126T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RH1|Q6P5Z3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.G250	ENST00000310045.7	37	c.750	CCDS11995.1	18																																																																																			DSEL	-	superfamily_Chondroitin_lyas	ENSG00000171451		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	270	0.00	0	T	NM_032160		65181126	65181126	-1	no_errors	ENST00000310045	ensembl	human	known	69_37n	silent	168	42.86	126	SNP	0.570	C
DST	667	genome.wustl.edu	37	6	56354315	56354315	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:56354315T>C	ENST00000361203.3	-	81	19897	c.19890A>G	c.(19888-19890)aaA>aaG	p.K6630K	DST_ENST00000370788.2_Silent_p.K4544K|DST_ENST00000370769.4_Silent_p.K6741K|DST_ENST00000421834.2_Silent_p.K4653K|DST_ENST00000244364.6_Silent_p.K4327K|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.K6415K|DST_ENST00000370754.5_Silent_p.K6919K			Q03001	DYST_HUMAN	dystonin	6630					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)			GTGTTTTTATTTTGTCTGGAT	0.353																																						dbGAP											0													222.0	197.0	205.0					6																	56354315		1838	4100	5938	-	-	-	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	ENST00000361203.3:c.19890A>G	6.37:g.56354315T>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_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K6919	ENST00000361203.3	37	c.20757		6																																																																																			DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	542	0.00	0	T	NM_001723		56354315	56354315	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	silent	398	40.77	274	SNP	1.000	C
DTX1	1840	genome.wustl.edu	37	12	113533262	113533262	+	Intron	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:113533262delG	ENST00000257600.3	+	8	2141				DTX1_ENST00000547974.1_Intron	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase						cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCACAGGCAGGGGCTCCAGC	0.602																																						dbGAP											0													25.0	26.0	26.0					12																	113533262		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1638+43G>-	12.37:g.113533262delG		Somatic		WXS	Illumina GAIIx	Phase_IV	O60630|Q9BS04	RNA	DEL	-	NULL	ENST00000257600.3	37	NULL	CCDS9164.1	12																																																																																			DTX1	-	-	ENSG00000135144		0.602	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	53	0.00	0	G			113533262	113533262	+1	no_errors	ENST00000547730	ensembl	human	known	69_37n	rna	35	30.00	15	DEL	0.000	-
DTX2	113878	genome.wustl.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						dbGAP											0													125.0	130.0	128.0					7																	76112249		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.H232fs	ENST00000324432.5	37	c.693	CCDS5587.1	7																																																																																			DTX2	-	NULL	ENSG00000091073		0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	Clone_based_vega_gene	protein_coding	OTTHUMT00000253104.2	159	0.00	0	A			76112249	76112249	+1	no_errors	ENST00000324432	ensembl	human	known	69_37n	frame_shift_del	157	15.64	33	DEL	0.794	-
DTX3	196403	genome.wustl.edu	37	12	58000854	58000854	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:58000854G>A	ENST00000548198.1	+	3	1712	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DTX3_ENST00000337737.3_Missense_Mutation_p.A70T|DTX3_ENST00000551632.1_Missense_Mutation_p.A73T|DTX3_ENST00000548804.1_Missense_Mutation_p.A70T			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	70					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					TCCTCCCCCGGCCCCTCCAAA	0.592																																						dbGAP											0													75.0	81.0	79.0					12																	58000854		1850	4083	5933	-	-	-	SO:0001583	missense	0			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.208G>A	12.37:g.58000854G>A	ENSP00000447873:p.Ala70Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A73T	ENST00000548198.1	37	c.217	CCDS41800.1	12	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225097	0.58668	.	.	ENSG00000178498	ENST00000548804;ENST00000549583;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000548478	T;T;T;T;T;T	0.50813	1.46;0.73;1.46;1.46;1.46;0.87	4.0	3.02	0.34903	.	0.374490	0.24238	N	0.040300	T	0.22975	0.0555	N	0.08118	0	0.30937	N	0.726285	B	0.27192	0.171	B	0.16289	0.015	T	0.14448	-1.0472	10	0.18276	T	0.48	-5.4657	11.0185	0.47705	0.0:0.1908:0.8092:0.0	.	70	Q8N9I9	DTX3_HUMAN	T	70;73;70;70;73;63	ENSP00000449294:A70T;ENSP00000449688:A73T;ENSP00000338050:A70T;ENSP00000447873:A70T;ENSP00000448696:A73T;ENSP00000448224:A63T	ENSP00000338050:A70T	A	+	1	0	DTX3	56287121	0.737000	0.28175	0.826000	0.32828	0.996000	0.88848	4.309000	0.59135	1.956000	0.56807	0.448000	0.29417	GCC	DTX3	-	NULL	ENSG00000178498		0.592	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	HGNC	protein_coding	OTTHUMT00000407848.1	53	0.00	0	G	NM_178502		58000854	58000854	+1	no_errors	ENST00000551632	ensembl	human	known	69_37n	missense	33	37.74	20	SNP	0.842	A
DUS1L	64118	genome.wustl.edu	37	17	80019598	80019598	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:80019598C>A	ENST00000354321.7	-	6	1079		c.e6-1		DUS1L_ENST00000306796.5_Splice_Site			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)								flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CACAGCCTTCCTGTTGGCAGA	0.662																																						dbGAP											0													79.0	76.0	77.0					17																	80019598		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.594-1G>T	17.37:g.80019598C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHV4|Q96AI3	Splice_Site	SNP	-	e6-1	ENST00000354321.7	37	c.594-1	CCDS32775.1	17	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197330	0.58126	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	.	.	.	3.76	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1012	0.81172	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DUS1L	77612887	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.080000	0.76837	2.091000	0.63221	0.514000	0.50259	.	DUS1L	-	-	ENSG00000169718		0.662	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUS1L	HGNC	protein_coding	OTTHUMT00000442347.1	61	0.00	0	C	NM_022156	Intron	80019598	80019598	-1	no_errors	ENST00000306796	ensembl	human	known	69_37n	splice_site	117	19.86	29	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102471153	102471153	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:102471153C>T	ENST00000360184.4	+	25	5268	c.5104C>T	c.(5104-5106)Ctc>Ttc	p.L1702F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1702	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAATGAGTGGCTCACATTGGT	0.378																																						dbGAP											0													104.0	96.0	99.0					14																	102471153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5104C>T	14.37:g.102471153C>T	ENSP00000348965:p.Leu1702Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L1702F	ENST00000360184.4	37	c.5104	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.094926	0.94197	.	.	ENSG00000197102	ENST00000360184	T	0.77358	-1.09	5.85	5.85	0.93711	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95395	0.8485	10	0.87932	D	0	.	20.1708	0.98159	0.0:1.0:0.0:0.0	.	1702	Q14204	DYHC1_HUMAN	F	1702	ENSP00000348965:L1702F	ENSP00000348965:L1702F	L	+	1	0	DYNC1H1	101540906	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.018000	0.70811	2.761000	0.94854	0.655000	0.94253	CTC	DYNC1H1	-	pfam_Dynein_heavy_dom-2	ENSG00000197102		0.378	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	319	0.00	0	C	NM_001376		102471153	102471153	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	267	34.40	140	SNP	1.000	T
DYSF	8291	genome.wustl.edu	37	2	71791210	71791210	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:71791210T>C	ENST00000258104.3	+	24	2655	c.2378T>C	c.(2377-2379)aTc>aCc	p.I793T	DYSF_ENST00000429174.2_Missense_Mutation_p.I793T|DYSF_ENST00000409762.1_Missense_Mutation_p.I810T|DYSF_ENST00000410041.1_Missense_Mutation_p.I811T|DYSF_ENST00000410020.3_Missense_Mutation_p.I811T|DYSF_ENST00000409651.1_Missense_Mutation_p.I825T|DYSF_ENST00000394120.2_Missense_Mutation_p.I794T|DYSF_ENST00000409366.1_Missense_Mutation_p.I794T|DYSF_ENST00000413539.2_Missense_Mutation_p.I824T|DYSF_ENST00000409744.1_Missense_Mutation_p.I780T|DYSF_ENST00000409582.3_Missense_Mutation_p.I810T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	793					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGCCGGACATCGTCATCTGG	0.652																																						dbGAP											0													83.0	79.0	80.0					2																	71791210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2378T>C	2.37:g.71791210T>C	ENSP00000258104:p.Ile793Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.I824T	ENST00000258104.3	37	c.2471	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	T	15.48	2.846543	0.51164	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.29	5.29	0.74685	Ferlin B-domain (1);	0.255301	0.38605	N	0.001633	T	0.79446	0.4447	M	0.65498	2.005	0.47341	D	0.999394	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.33044	0.078;0.078;0.078;0.078;0.232;0.232;0.232;0.039;0.078;0.395;0.088;0.078;0.078;0.096	B;B;B;B;P;B;P;B;B;B;B;B;B;B	0.45138	0.182;0.182;0.182;0.182;0.471;0.301;0.471;0.237;0.182;0.301;0.236;0.182;0.182;0.278	T	0.81185	-0.1048	10	0.87932	D	0	-12.8155	13.1855	0.59677	0.0:0.0:0.0:1.0	.	825;811;794;780;811;780;810;779;824;810;793;779;794;793	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	T	824;810;810;793;793;825;794;780;794;811;811	ENSP00000407046:I824T;ENSP00000387137:I810T;ENSP00000386547:I810T;ENSP00000398305:I793T;ENSP00000258104:I793T;ENSP00000386683:I825T;ENSP00000377678:I794T;ENSP00000386285:I780T;ENSP00000386512:I794T;ENSP00000386881:I811T;ENSP00000386617:I811T	ENSP00000258104:I793T	I	+	2	0	DYSF	71644718	0.997000	0.39634	0.010000	0.14722	0.668000	0.39293	7.977000	0.88081	2.005000	0.58758	0.379000	0.24179	ATC	DYSF	-	pfam_Ferlin_B-domain	ENSG00000135636		0.652	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	126	0.00	0	T	NM_003494		71791210	71791210	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	99	29.29	41	SNP	0.832	C
DYSF	8291	genome.wustl.edu	37	2	71797948	71797948	+	Intron	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:71797948C>G	ENST00000258104.3	+	29	3451				DYSF_ENST00000429174.2_Intron|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409651.1_Intron|DYSF_ENST00000394120.2_Intron|DYSF_ENST00000409366.1_Intron|DYSF_ENST00000413539.2_Intron|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409582.3_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GACCTGCATGCCCACAGACAC	0.572																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3174+77C>G	2.37:g.71797948C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	RNA	SNP	-	NULL	ENST00000258104.3	37	NULL	CCDS1918.1	2																																																																																			DYSF	-	-	ENSG00000135636		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	103	0.00	0	C	NM_003494		71797948	71797948	+1	no_errors	ENST00000461565	ensembl	human	known	69_37n	rna	94	28.24	37	SNP	0.001	G
DYSF	8291	genome.wustl.edu	37	2	71839797	71839797	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:71839797delC	ENST00000258104.3	+	39	4471	c.4194delC	c.(4192-4194)tgcfs	p.C1398fs	DYSF_ENST00000429174.2_Frame_Shift_Del_p.C1398fs|DYSF_ENST00000409762.1_Frame_Shift_Del_p.C1415fs|DYSF_ENST00000410041.1_Frame_Shift_Del_p.C1416fs|DYSF_ENST00000410020.3_Frame_Shift_Del_p.C1416fs|DYSF_ENST00000409651.1_Frame_Shift_Del_p.C1430fs|DYSF_ENST00000394120.2_Frame_Shift_Del_p.C1399fs|DYSF_ENST00000409366.1_Frame_Shift_Del_p.C1399fs|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Frame_Shift_Del_p.C1429fs|DYSF_ENST00000409744.1_Frame_Shift_Del_p.C1385fs|DYSF_ENST00000409582.3_Frame_Shift_Del_p.C1415fs	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1398	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCTCTACTGCCCCCCCATCA	0.622																																						dbGAP											0			GRCh37	CM053841	DYSF	M							58.0	54.0	56.0					2																	71839797		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4194delC	2.37:g.71839797delC	ENSP00000258104:p.Cys1398fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Frame_Shift_Del	DEL	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.I1432fs	ENST00000258104.3	37	c.4287	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000135636		0.622	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	77	0.00	0	C	NM_003494		71839797	71839797	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	frame_shift_del	57	28.75	23	DEL	0.989	-
E4F1	1877	genome.wustl.edu	37	16	2283890	2283890	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:2283890C>T	ENST00000301727.4	+	9	1322	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V	E4F1_ENST00000565090.1_Intron|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_Missense_Mutation_p.A425V|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	425	Mediates interaction with CDKN2A.			A -> V (in Ref. 2; BAF83018). {ECO:0000305}.	cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CAGCAGGTGGCCAGCGAGGCC	0.677																																						dbGAP											0													19.0	18.0	18.0					16																	2283890		2177	4287	6464	-	-	-	SO:0001583	missense	0			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1274C>T	16.37:g.2283890C>T	ENSP00000301727:p.Ala425Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R4|O00146	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A425V	ENST00000301727.4	37	c.1274	CCDS32370.1	16	.	.	.	.	.	.	.	.	.	.	C	9.086	1.000541	0.19121	.	.	ENSG00000167967	ENST00000301727	T	0.07800	3.16	4.78	2.79	0.32731	.	0.426812	0.26828	N	0.022285	T	0.08758	0.0217	L	0.51422	1.61	0.40845	D	0.983707	B	0.06786	0.001	B	0.04013	0.001	T	0.09552	-1.0669	10	0.56958	D	0.05	-11.6292	8.9269	0.35646	0.0:0.8151:0.0:0.1849	.	425	Q66K89	E4F1_HUMAN	V	425	ENSP00000301727:A425V	ENSP00000301727:A425V	A	+	2	0	E4F1	2223891	0.047000	0.20315	0.949000	0.38748	0.847000	0.48162	1.123000	0.31308	1.155000	0.42497	0.549000	0.68633	GCC	E4F1	-	NULL	ENSG00000167967		0.677	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	40	0.00	0	C	NM_004424		2283890	2283890	+1	no_errors	ENST00000301727	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.997	T
E4F1	1877	genome.wustl.edu	37	16	2285081	2285081	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:2285081G>A	ENST00000301727.4	+	13	1983		c.e13-1		E4F1_ENST00000565090.1_Splice_Site|DNASE1L2_ENST00000564065.1_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_Splice_Site|DNASE1L2_ENST00000382437.4_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CATCTGCCCAGGCCACTGCGG	0.682																																						dbGAP											0													29.0	30.0	29.0					16																	2285081		2191	4299	6490	-	-	-	SO:0001630	splice_region_variant	0			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1936-1G>A	16.37:g.2285081G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R4|O00146	Splice_Site	SNP	-	e13-1	ENST00000301727.4	37	c.1936-1	CCDS32370.1	16	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276300	0.23307	.	.	ENSG00000167967	ENST00000301727	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9897	0.86350	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	E4F1	2225082	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	4.310000	0.59141	2.361000	0.80049	0.561000	0.74099	.	E4F1	-	-	ENSG00000167967		0.682	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	25	0.00	0	G	NM_004424	Intron	2285081	2285081	+1	no_errors	ENST00000301727	ensembl	human	known	69_37n	splice_site	17	45.16	14	SNP	1.000	A
EEF2K	29904	genome.wustl.edu	37	16	22295258	22295258	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:22295258C>A	ENST00000263026.5	+	18	2593	c.2119C>A	c.(2119-2121)Cga>Aga	p.R707R	RP11-141O15.1_ENST00000562376.1_RNA|RP11-141O15.1_ENST00000568125.1_RNA	NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	707					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CATGAAGGGCCGACTGGCCAA	0.547																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											0													31.0	28.0	29.0					16																	22295258		2194	4296	6490	-	-	-	SO:0001819	synonymous_variant	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2119C>A	16.37:g.22295258C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N588	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.R707	ENST00000263026.5	37	c.2119	CCDS10604.1	16																																																																																			EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.547	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	96	0.00	0	C	NM_013302		22295258	22295258	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	silent	66	37.74	40	SNP	1.000	A
CRACR2A	84766	genome.wustl.edu	37	12	3757660	3757660	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:3757660A>G	ENST00000252322.1	-	11	1634	c.1166T>C	c.(1165-1167)cTg>cCg	p.L389P	EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		389					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCGACCCCAGGCTTCTGGG	0.602																																						dbGAP											0													74.0	67.0	69.0					12																	3757660		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000252322.1:c.1166T>C	12.37:g.3757660A>G	ENSP00000252322:p.Leu389Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1X0|B9EK63	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L389P	ENST00000252322.1	37	c.1166	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	a	9.969	1.224922	0.22457	.	.	ENSG00000130038	ENST00000252322	T	0.17054	2.3	4.26	-4.65	0.03339	.	1.079570	0.07423	N	0.894405	T	0.13670	0.0331	L	0.36672	1.1	0.20403	N	0.999907	B	0.02656	0.0	B	0.01281	0.0	T	0.38824	-0.9643	10	0.62326	D	0.03	.	11.6955	0.51540	0.3011:0.0:0.6989:0.0	.	389	Q9BSW2	EFC4B_HUMAN	P	389	ENSP00000252322:L389P	ENSP00000252322:L389P	L	-	2	0	EFCAB4B	3627921	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.020000	0.13466	-0.817000	0.04335	-0.621000	0.04028	CTG	EFCAB4B	-	NULL	ENSG00000130038		0.602	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	50	0.00	0	A			3757660	3757660	-1	no_errors	ENST00000252322	ensembl	human	known	69_37n	missense	39	23.53	12	SNP	0.000	G
CRACR2A	84766	genome.wustl.edu	37	12	3757717	3757717	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:3757717T>C	ENST00000252322.1	-	11	1577	c.1109A>G	c.(1108-1110)gAt>gGt	p.D370G	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.D370G|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.D370G	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		370					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTTAGGAAATCCAGCTGCTT	0.612																																						dbGAP											0													61.0	53.0	56.0					12																	3757717		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000252322.1:c.1109A>G	12.37:g.3757717T>C	ENSP00000252322:p.Asp370Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.D370G	ENST00000252322.1	37	c.1109	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	t	26.2	4.713543	0.89112	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.22134	1.97;2.42;2.12	4.93	4.93	0.64822	.	0.050761	0.85682	D	0.000000	T	0.41143	0.1146	L	0.58101	1.795	0.47476	D	0.999431	D;D;D	0.71674	0.99;0.998;0.997	P;D;D	0.72338	0.715;0.977;0.949	T	0.28964	-1.0027	10	0.72032	D	0.01	-14.8659	12.5523	0.56233	0.0:0.0:0.0:1.0	.	370;370;370	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	G	370	ENSP00000409382:D370G;ENSP00000412496:D370G;ENSP00000252322:D370G	ENSP00000252322:D370G	D	-	2	0	EFCAB4B	3627978	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.502000	0.73695	1.850000	0.53721	0.392000	0.25879	GAT	EFCAB4B	-	NULL	ENSG00000130038		0.612	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	47	0.00	0	T			3757717	3757717	-1	no_errors	ENST00000440314	ensembl	human	known	69_37n	missense	28	40.43	19	SNP	1.000	C
EFS	10278	genome.wustl.edu	37	14	23830036	23830036	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:23830036G>A	ENST00000216733.3	-	2	632	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	EFS_ENST00000429593.2_Intron|EFS_ENST00000351354.3_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	9	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCCGGGCCAGCTGGGTCTGG	0.642																																						dbGAP											0													16.0	19.0	18.0					14																	23830036		2196	4286	6482	-	-	-	SO:0001819	synonymous_variant	0			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.25C>T	14.37:g.23830036G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.L9	ENST00000216733.3	37	c.25	CCDS9595.1	14																																																																																			EFS	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000100842		0.642	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	HGNC	protein_coding	OTTHUMT00000071770.2	26	0.00	0	G			23830036	23830036	-1	no_errors	ENST00000216733	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	1.000	A
EHD1	10938	genome.wustl.edu	37	11	64627634	64627634	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:64627634G>A	ENST00000320631.3	-	3	931	c.677C>T	c.(676-678)aCg>aTg	p.T226M	EHD1_ENST00000359393.2_Missense_Mutation_p.T226M	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	226	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CAGCTGCTGCGTCTCGATCTG	0.577																																						dbGAP											0													105.0	99.0	101.0					11																	64627634		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.677C>T	11.37:g.64627634G>A	ENSP00000320516:p.Thr226Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.T226M	ENST00000320631.3	37	c.677	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729362	0.89390	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.91196	3.185	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.59357	0.856;0.856	D	0.98247	1.0491	10	0.62326	D	0.03	-57.6099	15.9821	0.80116	0.0:0.0:1.0:0.0	.	226;226	B2R5U3;Q9H4M9	.;EHD1_HUMAN	M	226;226;202;240;90;240;90	ENSP00000320516:T226M;ENSP00000352354:T226M;ENSP00000391429:T90M;ENSP00000404944:T240M;ENSP00000396273:T90M	ENSP00000320516:T226M	T	-	2	0	EHD1	64384210	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	9.575000	0.98187	2.639000	0.89480	0.561000	0.74099	ACG	EHD1	-	NULL	ENSG00000110047		0.577	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	208	0.00	0	G	NM_006795		64627634	64627634	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	missense	136	36.87	80	SNP	1.000	A
EHBP1L1	254102	genome.wustl.edu	37	11	65346593	65346593	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:65346593G>A	ENST00000309295.4	+	2	414	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	50						membrane (GO:0016020)		p.R50H(2)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CGGAACCGACGCATCTGCTCC	0.647																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											22.0	23.0	22.0					11																	65346593		1932	4129	6061	-	-	-	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.149G>A	11.37:g.65346593G>A	ENSP00000312671:p.Arg50His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R50H	ENST00000309295.4	37	c.149	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.455714	0.96223	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.44083	0.93;0.93	5.05	5.05	0.67936	.	0.080155	0.43416	D	0.000570	T	0.66694	0.2815	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72144	-0.4379	10	0.87932	D	0	.	13.9053	0.63831	0.0:0.0:1.0:0.0	.	50	Q8N3D4	EH1L1_HUMAN	H	50	ENSP00000312671:R50H;ENSP00000431996:R50H	ENSP00000312671:R50H	R	+	2	0	EHBP1L1	65103169	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.835000	0.75344	2.345000	0.79718	0.561000	0.74099	CGC	EHBP1L1	-	NULL	ENSG00000173442		0.647	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	49	0.00	0	G	XM_170658		65346593	65346593	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	missense	42	47.50	38	SNP	1.000	A
AGO3	192669	genome.wustl.edu	37	1	36479150	36479150	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:36479150delA	ENST00000373191.4	+	10	1498				AGO3_ENST00000246314.6_Intron|RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										CACAGTGAAGAAAAAAAAGAG	0.363																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1150-81A>-	1.37:g.36479150delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALI0|Q5TA55|Q9H1U6	RNA	DEL	-	NULL	ENST00000373191.4	37	NULL	CCDS399.1	1																																																																																			EIF2C3	-	-	ENSG00000126070		0.363	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C3	HGNC	protein_coding	OTTHUMT00000019831.4	35	0.00	0	A	NM_024852		36479150	36479150	+1	no_errors	ENST00000479395	ensembl	human	known	69_37n	rna	18	41.18	14	DEL	0.000	-
EIF3A	8661	genome.wustl.edu	37	10	120819250	120819250	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:120819250T>C	ENST00000369144.3	-	10	1454				EIF3A_ENST00000541549.1_Intron|SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A						mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AAACAAAGGGTTAATAACACT	0.378																																						dbGAP											0													56.0	56.0	56.0					10																	120819250		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1327-20A>G	10.37:g.120819250T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBG9|Q6IBN8|Q96TD5	RNA	SNP	-	NULL	ENST00000369144.3	37	NULL	CCDS7608.1	10																																																																																			EIF3A	-	-	ENSG00000107581		0.378	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	94	0.00	0	T	NM_003750		120819250	120819250	-1	no_errors	ENST00000462527	ensembl	human	known	69_37n	rna	65	32.99	32	SNP	0.294	C
EIF3L	51386	genome.wustl.edu	37	22	38282787	38282787	+	Missense_Mutation	SNP	G	G	A	rs201577615		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:38282787G>A	ENST00000412331.2	+	12	2173	c.1591G>A	c.(1591-1593)Gcg>Acg	p.A531T	EIF3L_ENST00000381683.6_Missense_Mutation_p.A483T|EIF3L_ENST00000406934.1_Missense_Mutation_p.A433T	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GATCCACATCGCGGACACCAA	0.552																																						dbGAP											0													86.0	66.0	73.0					22																	38282787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1591G>A	22.37:g.38282787G>A	ENSP00000416892:p.Ala531Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_TIF3_suL	p.A574T	ENST00000412331.2	37	c.1720	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944870	0.73672	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934;ENST00000450376	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.3	5.3	0.74995	.	0.048681	0.85682	D	0.000000	T	0.62732	0.2452	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.71674	0.995;0.987;0.995;0.998	P;P;P;P	0.60173	0.782;0.737;0.782;0.87	T	0.63225	-0.6685	10	0.42905	T	0.14	-0.4015	19.0545	0.93058	0.0:0.0:1.0:0.0	.	483;433;531;574	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	T	531;574;483;498;433;43	ENSP00000416892:A531T;ENSP00000371099:A483T;ENSP00000384634:A433T;ENSP00000412349:A43T	ENSP00000262832:A498T	A	+	1	0	EIF3L	36612733	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	9.827000	0.99397	2.480000	0.83734	0.650000	0.86243	GCG	EIF3L	-	pfam_TIF3_suL	ENSG00000100129		0.552	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	167	0.00	0	G	NM_016091		38282787	38282787	+1	no_errors	ENST00000425539	ensembl	human	known	69_37n	missense	126	41.74	91	SNP	1.000	A
ELFN1	392617	genome.wustl.edu	37	7	1785499	1785499	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:1785499C>A	ENST00000424383.2	+	3	1754	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	ELFN1_ENST00000541472.1_Missense_Mutation_p.L423M|ELFN1_ENST00000561626.1_Missense_Mutation_p.L423M			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1	423					negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						CATGACCATCCTGGGCTGCCT	0.692																																						dbGAP											0													27.0	27.0	27.0					7																	1785499		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.1267C>A	7.37:g.1785499C>A	ENSP00000456548:p.Leu423Met	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BS57	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L423M	ENST00000424383.2	37	c.1267	CCDS59046.1	7																																																																																			ELFN1	-	NULL	ENSG00000225968		0.692	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ELFN1	HGNC	protein_coding	OTTHUMT00000322893.2	51	0.00	0	C	NM_001128636		1785499	1785499	+1	no_errors	ENST00000424383	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	1.000	A
ELMO2	63916	genome.wustl.edu	37	20	45000518	45000518	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:45000518T>G	ENST00000290246.6	-	17	1701	c.1507A>C	c.(1507-1509)Agt>Cgt	p.S503R	ELMO2_ENST00000396391.1_Missense_Mutation_p.S503R|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000454865.2_Missense_Mutation_p.S235R|ELMO2_ENST00000439931.2_Missense_Mutation_p.S515R|ELMO2_ENST00000445496.2_Missense_Mutation_p.S320R|ELMO2_ENST00000352077.2_Missense_Mutation_p.S501R|ELMO2_ENST00000372176.1_Missense_Mutation_p.S415R	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	503					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCAGAGTAACTCAGGCTACGC	0.512																																						dbGAP											0													83.0	79.0	81.0					20																	45000518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1507A>C	20.37:g.45000518T>G	ENSP00000290246:p.Ser503Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S515R	ENST00000290246.6	37	c.1543	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945949	0.73672	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.47528	2.41;2.15;0.84;2.41;2.4;1.82;1.84;2.41	4.58	4.58	0.56647	.	0.080194	0.85682	D	0.000000	T	0.61160	0.2325	M	0.70275	2.135	0.80722	D	1	P;B;P;P	0.49358	0.923;0.286;0.871;0.871	P;B;P;P	0.55345	0.774;0.09;0.495;0.695	T	0.66460	-0.5918	10	0.72032	D	0.01	-23.3361	13.5889	0.61948	0.0:0.0:0.0:1.0	.	515;235;320;503	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	R	503;415;70;503;515;320;235;501	ENSP00000290246:S503R;ENSP00000361249:S415R;ENSP00000414329:S70R;ENSP00000379673:S503R;ENSP00000396519:S515R;ENSP00000409920:S320R;ENSP00000415641:S235R;ENSP00000326172:S501R	ENSP00000290246:S503R	S	-	1	0	ELMO2	44433925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.086000	0.71352	2.042000	0.60477	0.533000	0.62120	AGT	ELMO2	-	NULL	ENSG00000062598		0.512	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	138	0.00	0	T	NM_022086		45000518	45000518	-1	no_errors	ENST00000439931	ensembl	human	known	69_37n	missense	103	36.02	58	SNP	1.000	G
ELN	2006	genome.wustl.edu	37	7	73477671	73477672	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:73477671_73477672insA	ENST00000252034.7	+	28	2289_2290	c.1890_1891insA	c.(1891-1893)aaafs	p.K631fs	ELN_ENST00000380584.4_Frame_Shift_Ins_p.K583fs|ELN_ENST00000445912.1_Frame_Shift_Ins_p.K631fs|ELN_ENST00000380575.4_Frame_Shift_Ins_p.K602fs|ELN_ENST00000357036.5_Frame_Shift_Ins_p.K636fs|ELN_ENST00000458204.1_Frame_Shift_Ins_p.K621fs|ELN_ENST00000320492.7_Frame_Shift_Ins_p.K550fs|ELN_ENST00000380562.4_Frame_Shift_Ins_p.K637fs|ELN_ENST00000414324.1_Frame_Shift_Ins_p.K607fs|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Frame_Shift_Ins_p.K617fs|ELN_ENST00000380576.5_Frame_Shift_Ins_p.K612fs|ELN_ENST00000320399.6_Frame_Shift_Ins_p.K664fs|ELN_ENST00000380553.4_Frame_Shift_Ins_p.K495fs|ELN_ENST00000358929.4_Frame_Shift_Ins_p.K699fs	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				ctgccgcagccaaagctgctgc	0.683			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															dbGAP		Dom	yes		7	7q11.23	2006	elastin	yes	L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1893dupA	7.37:g.73477674_73477674dupA	ENSP00000252034:p.Lys631fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Frame_Shift_Ins	INS	prints_Tropoelastin	p.A699fs	ENST00000252034.7	37	c.2094_2095	CCDS5562.2	7																																																																																			ELN	-	NULL	ENSG00000049540		0.683	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	51	0.00	0	-	NM_000501		73477671	73477672	+1	no_errors	ENST00000358929	ensembl	human	known	69_37n	frame_shift_ins	37	33.93	19	INS	1.000:1.000	A
EMILIN1	11117	genome.wustl.edu	37	2	27303605	27303605	+	Missense_Mutation	SNP	G	G	A	rs554471085	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:27303605G>A	ENST00000380320.4	+	3	795	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	99	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R99H(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGTACCGCCGCTTCCTC	0.622											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		18236	0.0		0.0	False		,,,				2504	0.002					dbGAP											1	Substitution - Missense(1)	lung(1)											45.0	36.0	39.0					2																	27303605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.296G>A	2.37:g.27303605G>A	ENSP00000369677:p.Arg99His	Somatic	793	WXS	Illumina GAIIx	Phase_IV	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.R99H	ENST00000380320.4	37	c.296	CCDS1733.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.844629	0.97016	.	.	ENSG00000138080	ENST00000380320	T	0.60548	0.18	5.97	5.97	0.96955	EMI domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.87547	2.89	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	T	0.82236	-0.0557	10	0.87932	D	0	-19.4482	15.924	0.79597	0.0:0.0:1.0:0.0	.	99	Q9Y6C2	EMIL1_HUMAN	H	99	ENSP00000369677:R99H	ENSP00000369677:R99H	R	+	2	0	EMILIN1	27157109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.828000	0.97474	0.655000	0.94253	CGC	EMILIN1	-	pfam_EMI_domain,pfscan_EMI_domain	ENSG00000138080		0.622	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	50	0.00	0	G	NM_007046		27303605	27303605	+1	no_errors	ENST00000380320	ensembl	human	known	69_37n	missense	31	27.27	12	SNP	1.000	A
ENPP3	5169	genome.wustl.edu	37	6	132054739	132054739	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:132054739G>A	ENST00000414305.1	+	22	2293	c.1965G>A	c.(1963-1965)tcG>tcA	p.S655S	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Silent_p.S655S			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	655	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAGACACATCGCCTCTGCCTC	0.463																																						dbGAP											0													87.0	87.0	87.0					6																	132054739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1965G>A	6.37:g.132054739G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.S655	ENST00000414305.1	37	c.1965	CCDS5148.1	6																																																																																			ENPP3	-	smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000154269		0.463	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	187	0.00	0	G			132054739	132054739	+1	no_errors	ENST00000357639	ensembl	human	known	69_37n	silent	135	39.39	91	SNP	0.990	A
ENPP7	339221	genome.wustl.edu	37	17	77708966	77708966	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:77708966A>G	ENST00000328313.5	+	3	745	c.524A>G	c.(523-525)aAc>aGc	p.N175S		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGAGAGCGAACATCGACACA	0.607																																						dbGAP											0													90.0	69.0	76.0					17																	77708966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.524A>G	17.37:g.77708966A>G	ENSP00000332656:p.Asn175Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.N175S	ENST00000328313.5	37	c.524	CCDS11763.1	17	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781637	0.31502	.	.	ENSG00000182156	ENST00000328313	T	0.72394	-0.65	4.7	3.62	0.41486	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.107029	0.64402	D	0.000009	T	0.68035	0.2957	L	0.53729	1.69	0.46376	D	0.999013	B	0.34103	0.437	B	0.41135	0.348	T	0.66031	-0.6024	10	0.56958	D	0.05	-59.4179	8.8817	0.35378	0.8406:0.0:0.1594:0.0	.	175	Q6UWV6	ENPP7_HUMAN	S	175	ENSP00000332656:N175S	ENSP00000332656:N175S	N	+	2	0	ENPP7	75323561	1.000000	0.71417	0.687000	0.30102	0.103000	0.19146	5.265000	0.65519	0.662000	0.31006	0.482000	0.46254	AAC	ENPP7	-	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	ENSG00000182156		0.607	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	34	0.00	0	A	NM_178543		77708966	77708966	+1	no_errors	ENST00000328313	ensembl	human	known	69_37n	missense	81	14.74	14	SNP	1.000	G
PCDHA9	9752	genome.wustl.edu	37	5	140242940	140242940	+	Intron	SNP	G	G	A	rs541699808		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140242940G>A	ENST00000532602.1	+	1	3427				AC005609.1_ENST00000502505.1_Silent_p.R12R|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGACGCTGCGGTGCTTGG	0.617													.|||	1	0.000199681	0.0	0.0014	5008	,	,		17925	0.0		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+12466G>A	5.37:g.140242940G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15053|Q2M3S5	Silent	SNP	NULL	p.R12	ENST00000532602.1	37	c.36	CCDS54920.1	5																																																																																			AC005609.1	-	NULL	ENSG00000249034		0.617	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249034	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000372896.2	35	0.00	0	G	NM_031857		140242940	140242940	-1	no_errors	ENST00000502505	ensembl	human	known	69_37n	silent	15	44.44	12	SNP	0.649	A
ALG1L13P	106479038	genome.wustl.edu	37	8	8093698	8093698	+	RNA	SNP	A	A	G	rs533217779	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:8093698A>G	ENST00000523017.1	-	0	765									asparagine-linked glycosylation 1-like 13, pseudogene																		ATGGCCTCTCATTAGAGGCAG	0.572													.|||	2	0.000399361	0.0	0.0	5008	,	,		832	0.002		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0					8p23.1	2012-11-07			ENSG00000253981	ENSG00000253981			44382	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000163708		8.37:g.8093698A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000523017.1	37	NULL		8																																																																																			RP11-556O5.4	-	-	ENSG00000253981		0.572	ALG1L13P-001	KNOWN	basic	processed_transcript	ENSG00000253981	Clone_based_vega_gene	pseudogene	OTTHUMT00000374862.1	85	0.00	0	A			8093698	8093698	-1	no_errors	ENST00000518201	ensembl	human	known	69_37n	rna	48	37.66	29	SNP	0.001	G
HOMEZ	57594	genome.wustl.edu	37	14	23745735	23745735	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:23745735G>A	ENST00000357460.5	-	2	866	c.702C>T	c.(700-702)ggC>ggT	p.G234G	HOMEZ_ENST00000431326.2_Silent_p.G236G|HOMEZ_ENST00000561013.1_Silent_p.G236G	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGGGACCCCTGCCTGCCTGCT	0.542																																						dbGAP											0													75.0	77.0	76.0					14																	23745735		2065	4202	6267	-	-	-	SO:0001819	synonymous_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.702C>T	14.37:g.23745735G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.G236	ENST00000357460.5	37	c.708	CCDS45085.1	14																																																																																			RP11-124D2.6	-	NULL	ENSG00000260175		0.542	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	191	0.00	0	G	NM_020834		23745735	23745735	-1	no_errors	ENST00000431326	ensembl	human	known	69_37n	silent	120	35.45	67	SNP	0.999	A
RDH11	51109	genome.wustl.edu	37	14	68151905	68151905	+	Silent	SNP	C	C	T	rs199934972		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:68151905C>T	ENST00000381346.4	-	6	791	c.681G>A	c.(679-681)acG>acA	p.T227T	RDH11_ENST00000553384.1_Silent_p.T214T|RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000428130.2_Silent_p.T157T|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.R58H	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	227					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTACAGAATACGTCGTAACGC	0.468																																						dbGAP											0													72.0	62.0	66.0					14																	68151905		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.681G>A	14.37:g.68151905C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	NULL	p.R58H	ENST00000381346.4	37	c.173	CCDS32104.1	14																																																																																			RP11-1012A1.4	-	NULL	ENSG00000258466		0.468	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258466	Clone_based_vega_gene	protein_coding	OTTHUMT00000412257.3	128	0.78	1	C			68151905	68151905	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553306	ensembl	human	known	69_37n	missense	72	37.39	43	SNP	0.000	T
EP300	2033	genome.wustl.edu	37	22	41566525	41566525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:41566525delA	ENST00000263253.7	+	27	5621	c.4402delA	c.(4402-4404)aaafs	p.K1469fs	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1469	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.M1470fs*3(3)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGAATGGTACAAAAAAATGCT	0.473			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	3	Insertion - Frameshift(3)	large_intestine(3)											121.0	103.0	110.0					22																	41566525		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4402delA	22.37:g.41566525delA	ENSP00000263253:p.Lys1469fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.M1470fs	ENST00000263253.7	37	c.4402	CCDS14010.1	22																																																																																			EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.473	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	243	0.00	0	A	NM_001429		41566525	41566525	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	frame_shift_del	158	34.02	82	DEL	1.000	-
EP300	2033	genome.wustl.edu	37	22	41573569	41573569	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:41573569A>G	ENST00000263253.7	+	31	7073	c.5854A>G	c.(5854-5856)Atc>Gtc	p.I1952V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1952					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAAAGGCCAATCCAACACCA	0.597			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													74.0	71.0	72.0					22																	41573569		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5854A>G	22.37:g.41573569A>G	ENSP00000263253:p.Ile1952Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.I1952V	ENST00000263253.7	37	c.5854	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	A	3.899	-0.022336	0.07634	.	.	ENSG00000100393	ENST00000263253	D	0.82255	-1.59	5.47	3.36	0.38483	.	0.129523	0.33895	N	0.004446	T	0.76314	0.3970	L	0.53249	1.67	0.26258	N	0.97862	B	0.02656	0.0	B	0.01281	0.0	T	0.60732	-0.7205	10	0.24483	T	0.36	-9.5433	9.5505	0.39306	0.8572:0.0:0.1428:0.0	.	1952	Q09472	EP300_HUMAN	V	1952	ENSP00000263253:I1952V	ENSP00000263253:I1952V	I	+	1	0	EP300	39903515	0.993000	0.37304	0.984000	0.44739	0.592000	0.36648	3.341000	0.52151	0.388000	0.25054	-0.379000	0.06801	ATC	EP300	-	NULL	ENSG00000100393		0.597	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	117	0.00	0	A	NM_001429		41573569	41573569	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	111	36.57	64	SNP	0.865	G
EPB41L1	2036	genome.wustl.edu	37	20	34763558	34763558	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:34763558A>G	ENST00000338074.2	+	3	424	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	EPB41L1_ENST00000441639.1_Missense_Mutation_p.Q26R|EPB41L1_ENST00000373950.2_Missense_Mutation_p.Q26R|EPB41L1_ENST00000202028.5_Missense_Mutation_p.Q26R|EPB41L1_ENST00000373941.1_Missense_Mutation_p.Q88R|EPB41L1_ENST00000373946.3_Missense_Mutation_p.Q57R	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	88					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAATCGCCCCAGAAGATTGCC	0.572																																						dbGAP											0													136.0	118.0	124.0					20																	34763558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.263A>G	20.37:g.34763558A>G	ENSP00000337168:p.Gln88Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.Q88R	ENST00000338074.2	37	c.263	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520131	0.85495	.	.	ENSG00000088367	ENST00000202028;ENST00000432589;ENST00000406771;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000452261;ENST00000397307;ENST00000447825;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	D;T;T;D;T;D;D;T;D;D	0.84442	-1.82;-1.45;-1.17;-1.73;-1.42;-1.82;-1.83;-1.47;-1.85;-1.84	5.8	5.8	0.92144	.	.	.	.	.	D	0.87481	0.6188	L	0.29908	0.895	0.47374	D	0.999402	B;D;D;B;D;D;B	0.69078	0.149;0.997;0.983;0.126;0.996;0.963;0.024	B;D;P;B;D;P;B	0.75484	0.032;0.985;0.84;0.112;0.986;0.644;0.112	D	0.86531	0.1822	9	0.33940	T	0.23	.	14.9789	0.71296	1.0:0.0:0.0:0.0	.	88;88;88;57;26;26;26	B7Z653;Q9H4G0;Q4VXN5;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.;.	R	26;26;88;26;26;88;26;88;26;88;26;57;26;88;88	ENSP00000202028:Q26R;ENSP00000385244:Q88R;ENSP00000404341:Q26R;ENSP00000363061:Q26R;ENSP00000413262:Q88R;ENSP00000399214:Q26R;ENSP00000363057:Q57R;ENSP00000363056:Q26R;ENSP00000337168:Q88R;ENSP00000363052:Q88R	ENSP00000202028:Q26R	Q	+	2	0	EPB41L1	34226972	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.354000	0.79424	2.209000	0.71365	0.533000	0.62120	CAG	EPB41L1	-	pirsf_Band_41_protein	ENSG00000088367		0.572	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	217	0.00	0	A	NM_012156		34763558	34763558	+1	no_errors	ENST00000338074	ensembl	human	known	69_37n	missense	157	36.44	90	SNP	1.000	G
EPC1	80314	genome.wustl.edu	37	10	32580139	32580139	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:32580139T>A	ENST00000263062.8	-	6	1196	c.927A>T	c.(925-927)caA>caT	p.Q309H	EPC1_ENST00000375110.2_Missense_Mutation_p.Q259H|EPC1_ENST00000319778.6_Missense_Mutation_p.Q309H	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	309					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTGTTTAAATTGACTGCTAT	0.373																																						dbGAP											0													128.0	120.0	123.0					10																	32580139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.927A>T	10.37:g.32580139T>A	ENSP00000263062:p.Gln309His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.Q309H	ENST00000263062.8	37	c.927	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	T	7.295	0.611841	0.14066	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.67698	-0.28;-0.28;-0.28	5.61	-2.38	0.06622	.	0.103999	0.64402	D	0.000002	T	0.51991	0.1707	N	0.16266	0.395	0.41933	D	0.990578	B;P;P;B	0.51653	0.001;0.83;0.947;0.0	B;P;P;B	0.53102	0.005;0.667;0.718;0.001	T	0.49670	-0.8915	10	0.21014	T	0.42	-9.0491	8.3966	0.32561	0.1032:0.3435:0.0:0.5532	.	309;259;309;309	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	H	259;309;309	ENSP00000364251:Q259H;ENSP00000318559:Q309H;ENSP00000263062:Q309H	ENSP00000263062:Q309H	Q	-	3	2	EPC1	32620145	0.768000	0.28519	0.979000	0.43373	0.956000	0.61745	-0.045000	0.12003	-0.355000	0.08199	-0.467000	0.05162	CAA	EPC1	-	NULL	ENSG00000120616		0.373	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	398	0.00	0	T			32580139	32580139	-1	no_errors	ENST00000263062	ensembl	human	known	69_37n	missense	283	38.88	180	SNP	0.993	A
EPC1	80314	genome.wustl.edu	37	10	32581465	32581465	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:32581465T>C	ENST00000263062.8	-	5	1043	c.774A>G	c.(772-774)aaA>aaG	p.K258K	EPC1_ENST00000375110.2_Silent_p.K208K|EPC1_ENST00000319778.6_Silent_p.K258K	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	258					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATAGCTCTCTTTTACTTTTTT	0.313																																						dbGAP											0													116.0	120.0	119.0					10																	32581465		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.774A>G	10.37:g.32581465T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.K258	ENST00000263062.8	37	c.774	CCDS7172.1	10																																																																																			EPC1	-	NULL	ENSG00000120616		0.313	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	353	0.00	0	T			32581465	32581465	-1	no_errors	ENST00000263062	ensembl	human	known	69_37n	silent	259	32.55	125	SNP	0.965	C
EPG5	57724	genome.wustl.edu	37	18	43534549	43534550	+	Frame_Shift_Del	DEL	CT	CT	-	rs374954693		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:43534549_43534550delCT	ENST00000282041.5	-	2	852_853	c.818_819delAG	c.(817-819)gagfs	p.E273fs		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	273					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTAAATATGACTCAACATTTTC	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.818_819delAG	18.37:g.43534549_43534550delCT	ENSP00000282041:p.Glu273fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	NULL	p.E273fs	ENST00000282041.5	37	c.819_818	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.426	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	292	0.00	0	CT	NM_020964		43534549	43534550	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	frame_shift_del	218	27.48	83	DEL	0.981:0.999	-
EPHA3	2042	genome.wustl.edu	37	3	89448493	89448493	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:89448493T>C	ENST00000336596.2	+	7	1682	c.1457T>C	c.(1456-1458)aTt>aCt	p.I486T	EPHA3_ENST00000494014.1_Missense_Mutation_p.I486T|EPHA3_ENST00000452448.2_Missense_Mutation_p.I486T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	486	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGTTATACCATTCTGAGGGCA	0.398										TSP Lung(6;0.00050)																												dbGAP											0													80.0	80.0	80.0					3																	89448493		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1457T>C	3.37:g.89448493T>C	ENSP00000337451:p.Ile486Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.I486T	ENST00000336596.2	37	c.1457	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370561	0.24771	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57595	0.39;0.39;0.39	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	N	0.20881	0.62	0.80722	D	1	D;P	0.69078	0.997;0.712	D;B	0.80764	0.994;0.279	T	0.57625	-0.7779	9	.	.	.	.	15.3363	0.74260	0.0:0.0:0.0:1.0	.	486;486	P29320;P29320-2	EPHA3_HUMAN;.	T	486	ENSP00000337451:I486T;ENSP00000399926:I486T;ENSP00000419190:I486T	.	I	+	2	0	EPHA3	89531183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	2.026000	0.59711	0.460000	0.39030	ATT	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	140	0.00	0	T	NM_005233		89448493	89448493	+1	no_errors	ENST00000336596	ensembl	human	known	69_37n	missense	114	35.23	62	SNP	1.000	C
EPHA4	2043	genome.wustl.edu	37	2	222428573	222428573	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:222428573A>G	ENST00000281821.2	-	3	742	c.701T>C	c.(700-702)gTc>gCc	p.V234A	EPHA4_ENST00000409854.1_Missense_Mutation_p.V234A|EPHA4_ENST00000392071.4_Missense_Mutation_p.V183A|EPHA4_ENST00000409938.1_Missense_Mutation_p.V234A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	234	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGAGTTGTTGACACAGGAGCC	0.512																																						dbGAP											0													455.0	362.0	394.0					2																	222428573		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.701T>C	2.37:g.222428573A>G	ENSP00000281821:p.Val234Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.V234A	ENST00000281821.2	37	c.701	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240859	0.79912	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.80033	-1.33;-1.32;-1.33;-1.28	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93496	0.6840	10	0.87932	D	0	.	16.4578	0.84025	1.0:0.0:0.0:0.0	.	234	P54764	EPHA4_HUMAN	A	234;234;234;183	ENSP00000281821:V234A;ENSP00000386276:V234A;ENSP00000386829:V234A;ENSP00000375923:V183A	ENSP00000281821:V234A	V	-	2	0	EPHA4	222136817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.288000	0.76882	0.482000	0.46254	GTC	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000116106		0.512	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	984	0.00	0	A			222428573	222428573	-1	no_errors	ENST00000281821	ensembl	human	known	69_37n	missense	624	39.60	411	SNP	1.000	G
EPHB1	2047	genome.wustl.edu	37	3	134644703	134644703	+	Missense_Mutation	SNP	C	C	T	rs536029159		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:134644703C>T	ENST00000398015.3	+	2	474	c.104C>T	c.(103-105)aCg>aTg	p.T35M	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	35	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGGGCTGGACGGCCAATCCT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20439	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.104C>T	3.37:g.134644703C>T	ENSP00000381097:p.Thr35Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.T35M	ENST00000398015.3	37	c.104	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735981	0.49045	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000497173;ENST00000473867;ENST00000474732	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	4.33	4.33	0.51752	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.067175	0.56097	D	0.000023	T	0.14442	0.0349	L	0.48642	1.525	0.80722	D	1	D;D	0.64830	0.994;0.988	D;P	0.63793	0.918;0.797	T	0.02391	-1.1166	10	0.40728	T	0.16	.	17.0176	0.86423	0.0:1.0:0.0:0.0	.	35;35	B5A969;P54762	.;EPHB1_HUMAN	M	13;35;13;13;13	ENSP00000417435:T13M;ENSP00000381097:T35M;ENSP00000419688:T13M;ENSP00000417216:T13M;ENSP00000418352:T13M	ENSP00000381097:T35M	T	+	2	0	EPHB1	136127393	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	5.278000	0.65592	2.253000	0.74438	0.555000	0.69702	ACG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.458	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	218	0.00	0	C	NM_004441		134644703	134644703	+1	no_errors	ENST00000398015	ensembl	human	known	69_37n	missense	112	37.08	66	SNP	1.000	T
EPSTI1	94240	genome.wustl.edu	37	13	43537413	43537414	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:43537413_43537414insT	ENST00000398762.3	-	5	465_466	c.466_467insA	c.(466-468)atgfs	p.M156fs	EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313640.7_Frame_Shift_Ins_p.M156fs|EPSTI1_ENST00000313624.7_Frame_Shift_Ins_p.M156fs			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	156										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		AATTGCCTTCATTTTTTGGAGT	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.467dupA	13.37:g.43537419_43537419dupT	ENSP00000381746:p.Met156fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVC7|Q8NDQ7	Frame_Shift_Ins	INS	NULL	p.M156fs	ENST00000398762.3	37	c.467_466	CCDS9387.1	13																																																																																			EPSTI1	-	NULL	ENSG00000133106		0.332	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	771	0.00	0	-	NM_001002264		43537413	43537414	-1	no_errors	ENST00000313640	ensembl	human	known	69_37n	frame_shift_ins	538	31.11	243	INS	1.000:1.000	T
EPX	8288	genome.wustl.edu	37	17	56276525	56276525	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:56276525C>T	ENST00000225371.5	+	8	1355	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	415					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	ACAAACTGTACAATGAGGCTC	0.567																																						dbGAP											0													72.0	62.0	65.0					17																	56276525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1245C>T	17.37:g.56276525C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4TVP3	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Y415	ENST00000225371.5	37	c.1245	CCDS11602.1	17																																																																																			EPX	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000121053		0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	134	0.00	0	C	NM_000502		56276525	56276525	+1	no_errors	ENST00000225371	ensembl	human	known	69_37n	silent	233	15.88	44	SNP	1.000	T
ERC1	23085	genome.wustl.edu	37	12	1213949	1213949	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:1213949T>C	ENST00000397203.2	+	4	1526	c.1120T>C	c.(1120-1122)Tct>Cct	p.S374P	ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.S374P|ERC1_ENST00000543086.3_Missense_Mutation_p.S374P|ERC1_ENST00000360905.4_Missense_Mutation_p.S374P|ERC1_ENST00000546231.2_Missense_Mutation_p.S374P|ERC1_ENST00000355446.5_Missense_Mutation_p.S374P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	374					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TGCTCCTGATTCTGCCAAAAC	0.368																																						dbGAP											0													144.0	144.0	144.0					12																	1213949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1120T>C	12.37:g.1213949T>C	ENSP00000380386:p.Ser374Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.S374P	ENST00000397203.2	37	c.1120	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804285	0.50315	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.4	5.4	0.78164	.	0.056787	0.64402	D	0.000001	T	0.36138	0.0956	N	0.20881	0.62	0.46222	D	0.998932	B;B;P;P;B	0.46621	0.007;0.001;0.881;0.881;0.001	B;B;P;P;B	0.48654	0.017;0.008;0.457;0.585;0.012	T	0.09058	-1.0692	10	0.29301	T	0.29	-7.7884	11.7413	0.51794	0.1318:0.0:0.0:0.8682	.	150;11;374;374;374	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	P	374;374;374;374;374;374;374;374;374;374;150;11	ENSP00000340054:S374P;ENSP00000380386:S374P;ENSP00000438546:S374P;ENSP00000445336:S374P;ENSP00000442739:S374P;ENSP00000347621:S374P;ENSP00000354158:S374P;ENSP00000410064:S374P	ENSP00000340054:S374P	S	+	1	0	ERC1	1084210	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.470000	0.53100	2.049000	0.60858	0.482000	0.46254	TCT	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.368	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	337	0.00	0	T	NM_015064		1213949	1213949	+1	no_errors	ENST00000360905	ensembl	human	known	69_37n	missense	264	37.74	160	SNP	0.994	C
ERBB3	2065	genome.wustl.edu	37	12	56488228	56488228	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:56488228C>T	ENST00000267101.3	+	15	2187	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.P524S|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	583					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGAGATGGGCCCCACTGTGT	0.527																																						dbGAP											0													110.0	112.0	111.0					12																	56488228		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1747C>T	12.37:g.56488228C>T	ENSP00000267101:p.Pro583Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P583S	ENST00000267101.3	37	c.1747	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008296	0.93346	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	D;D	0.85171	-1.95;-1.95	5.77	5.77	0.91146	Growth factor, receptor (1);	0.183439	0.38436	N	0.001695	D	0.88937	0.6573	L	0.31926	0.97	0.80722	D	1	D;D	0.76494	0.999;0.983	D;P	0.75020	0.985;0.569	D	0.89277	0.3609	10	0.59425	D	0.04	.	18.7534	0.91823	0.0:1.0:0.0:0.0	.	524;583	P21860-4;P21860	.;ERBB3_HUMAN	S	583;524	ENSP00000267101:P583S;ENSP00000408340:P524S	ENSP00000267101:P583S	P	+	1	0	ERBB3	54774495	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	5.681000	0.68175	2.737000	0.93849	0.561000	0.74099	CCC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000065361		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	109	0.00	0	C			56488228	56488228	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	missense	76	42.96	58	SNP	1.000	T
ERCC5	2073	genome.wustl.edu	37	13	103515094	103515094	+	Missense_Mutation	SNP	C	C	T	rs570775554		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:103515094C>T	ENST00000355739.4	+	8	3018	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Silent_p.F957F	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	532					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGTACAAATTCTGTGTCAAAG	0.468			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													79.0	76.0	77.0					13																	103515094		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1595C>T	13.37:g.103515094C>T	ENSP00000347978:p.Ser532Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.S532F	ENST00000355739.4	37	c.1595	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571351	0.28003	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.05139	3.49	5.57	0.741	0.18336	.	1.184840	0.05584	N	0.573390	T	0.07908	0.0198	L	0.57536	1.79	0.09310	N	1	B;B;B	0.23128	0.012;0.067;0.08	B;B;B	0.16289	0.006;0.008;0.015	T	0.41233	-0.9520	10	0.72032	D	0.01	-6.6089	3.3529	0.07159	0.2546:0.4238:0.0:0.3216	.	532;532;957	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	F	957;532;364	ENSP00000347978:S532F	ENSP00000347978:S532F	S	+	2	0	ERCC5	102313095	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.040000	0.13905	0.257000	0.21650	0.655000	0.94253	TCT	ERCC5	-	tigrfam_XPGC_DNA_repair	ENSG00000134899		0.468	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	175	0.57	1	C			103515094	103515094	+1	no_errors	ENST00000355739	ensembl	human	known	69_37n	missense	137	43.44	106	SNP	0.000	T
ERGIC3	51614	genome.wustl.edu	37	20	34143977	34143977	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:34143977G>A	ENST00000348547.2	+	10	891		c.e10-1		ERGIC3_ENST00000357394.4_Splice_Site|ERGIC3_ENST00000447986.1_Splice_Site|ERGIC3_ENST00000279052.6_Splice_Site|ERGIC3_ENST00000482338.1_Splice_Site	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TTTCCCCTCAGCCTCCATGAT	0.612																																						dbGAP											0													160.0	142.0	148.0					20																	34143977		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF077030	CCDS13257.1, CCDS13258.1	20q11.22	2013-09-19	2006-01-19	2006-01-19	ENSG00000125991	ENSG00000125991			15927	protein-coding gene	gene with protein product			"""serologically defined breast cancer antigen 84"", ""chromosome 20 open reading frame 47"""	SDBCAG84, C20orf47		10810093	Standard	NM_015966		Approved	CGI-54, PRO0989, NY-BR-84, Erv46	uc002xcs.3	Q9Y282	OTTHUMG00000032346	ENST00000348547.2:c.815-1G>A	20.37:g.34143977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JWS3|Q6ZWP7|Q9H276|Q9P1L3	Splice_Site	SNP	-	e11-1	ENST00000348547.2	37	c.860-1	CCDS13257.1	20	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743230	0.69418	.	.	ENSG00000125991	ENST00000348547;ENST00000357394;ENST00000447986;ENST00000279052;ENST00000416206;ENST00000355563;ENST00000413587;ENST00000442139;ENST00000451605	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2274	0.89923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERGIC3	33607391	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.487000	0.81328	2.586000	0.87340	0.563000	0.77884	.	ERGIC3	-	-	ENSG00000125991		0.612	ERGIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC3	HGNC	protein_coding	OTTHUMT00000078880.2	270	0.00	0	G	NM_015966	Intron	34143977	34143977	+1	no_errors	ENST00000447986	ensembl	human	known	69_37n	splice_site	172	40.07	115	SNP	1.000	A
ERH	2079	genome.wustl.edu	37	14	69847202	69847202	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:69847202G>A	ENST00000557016.1	-	0	761				ERH_ENST00000216520.6_5'UTR	NM_004450.2	NP_004441.1	P84090	ERH_HUMAN	enhancer of rudimentary homolog (Drosophila)						cell cycle (GO:0007049)|nucleobase-containing compound metabolic process (GO:0006139)|osteoblast differentiation (GO:0001649)|pyrimidine nucleoside metabolic process (GO:0006213)	membrane (GO:0016020)|midbody (GO:0030496)	poly(A) RNA binding (GO:0044822)								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		ACAGCACGCTGTACACACCTG	0.468																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC014301	CCDS9794.1	14q24.1	2011-05-18	2001-11-28		ENSG00000100632	ENSG00000100632			3447	protein-coding gene	gene with protein product		601191	"""enhancer of rudimentary (Drosophila) homolog"""			8786099, 9074495	Standard	NM_004450		Approved	DROER	uc001xlc.2	P84090		ENST00000557016.1:c.*53C>T	14.37:g.69847202G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5H2|P70659|Q14259	RNA	SNP	-	NULL	ENST00000557016.1	37	NULL	CCDS9794.1	14																																																																																			ERH	-	-	ENSG00000100632		0.468	ERH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERH	HGNC	protein_coding	OTTHUMT00000412990.1	246	0.00	0	G	NM_004450		69847202	69847202	-1	no_errors	ENST00000216520	ensembl	human	putative	69_37n	rna	145	38.03	89	SNP	1.000	A
ERLIN2	11160	genome.wustl.edu	37	8	37611457	37611457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:37611457C>T	ENST00000276461.5	+	12	911	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	ERLIN2_ENST00000519638.1_Nonsense_Mutation_p.Q282*	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	282	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGAATATCTGCAGCTGATGAA	0.428																																						dbGAP											0													83.0	76.0	78.0					8																	37611457		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.844C>T	8.37:g.37611457C>T	ENSP00000276461:p.Gln282*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.Q282*	ENST00000276461.5	37	c.844	CCDS6095.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.361985	0.95877	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.9264	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	282	.	ENSP00000276461:Q282X	Q	+	1	0	ERLIN2	37730615	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.605000	0.46283	2.840000	0.97914	0.655000	0.94253	CAG	ERLIN2	-	NULL	ENSG00000147475		0.428	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	HGNC	protein_coding	OTTHUMT00000376712.2	155	0.00	0	C	NM_007175		37611457	37611457	+1	no_errors	ENST00000276461	ensembl	human	known	69_37n	nonsense	92	43.29	71	SNP	1.000	T
ESRP2	80004	genome.wustl.edu	37	16	68265114	68265114	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:68265114T>C	ENST00000565858.1	-	12	1794	c.1708A>G	c.(1708-1710)Agt>Ggt	p.S570G	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.S560G	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	570					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						GACATGCCACTGCGGCCCAAG	0.627																																						dbGAP											0													69.0	60.0	63.0					16																	68265114		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1708A>G	16.37:g.68265114T>C	ENSP00000454554:p.Ser570Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.S570G	ENST00000565858.1	37	c.1708		16	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084133	0.55861	.	.	ENSG00000103067	ENST00000473183	T	0.11495	2.77	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.21071	0.051;0.044	B;B	0.20577	0.02;0.03	T	0.04178	-1.0971	10	0.25106	T	0.35	-10.7914	16.1311	0.81442	0.0:0.0:0.0:1.0	.	570;560	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	G	560	ENSP00000418748:S560G	ENSP00000418748:S560G	S	-	1	0	ESRP2	66822615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.208000	0.71279	0.460000	0.39030	AGT	ESRP2	-	NULL	ENSG00000103067		0.627	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	137	0.00	0	T	NM_024939		68265114	68265114	-1	no_errors	ENST00000565858	ensembl	human	known	69_37n	missense	86	31.75	40	SNP	1.000	C
ETV6	2120	genome.wustl.edu	37	12	12022746	12022746	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:12022746C>T	ENST00000396373.4	+	5	1126	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	284					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCGGCACTCCGTGGATTTCA	0.612			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	0													81.0	80.0	80.0					12																	12022746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.852C>T	12.37:g.12022746C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.S284	ENST00000396373.4	37	c.852	CCDS8643.1	12																																																																																			ETV6	-	NULL	ENSG00000139083		0.612	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	70	0.00	0	C	NM_001987		12022746	12022746	+1	no_errors	ENST00000396373	ensembl	human	known	69_37n	silent	44	44.30	35	SNP	0.949	T
ETV6	2120	genome.wustl.edu	37	12	12037513	12037513	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:12037513A>G	ENST00000396373.4	+	6	1418	c.1144A>G	c.(1144-1146)Aac>Gac	p.N382D		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	382					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACTGTGGGGAAACCATAAGGT	0.463			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	0													68.0	66.0	66.0					12																	12037513		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1144A>G	12.37:g.12037513A>G	ENSP00000379658:p.Asn382Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.N382D	ENST00000396373.4	37	c.1144	CCDS8643.1	12	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865536	0.91511	.	.	ENSG00000139083	ENST00000396373	T	0.14022	2.54	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.33753	1.03	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.01557	-1.1325	10	0.62326	D	0.03	.	15.5005	0.75695	1.0:0.0:0.0:0.0	.	382	P41212	ETV6_HUMAN	D	382	ENSP00000379658:N382D	ENSP00000379658:N382D	N	+	1	0	ETV6	11928780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.130000	0.65690	0.533000	0.62120	AAC	ETV6	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000139083		0.463	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	176	0.00	0	A	NM_001987		12037513	12037513	+1	no_errors	ENST00000396373	ensembl	human	known	69_37n	missense	115	38.83	73	SNP	1.000	G
ETV6	2120	genome.wustl.edu	37	12	12038878	12038878	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:12038878delT	ENST00000396373.4	+	7	1445	c.1171delT	c.(1171-1173)tatfs	p.Y391fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	391					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAACATGACCTATGAGAAAAT	0.428			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	0													116.0	109.0	111.0					12																	12038878		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1171delT	12.37:g.12038878delT	ENSP00000379658:p.Tyr391fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Frame_Shift_Del	DEL	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.Y391fs	ENST00000396373.4	37	c.1171	CCDS8643.1	12																																																																																			ETV6	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000139083		0.428	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	308	0.00	0	T	NM_001987		12038878	12038878	+1	no_errors	ENST00000396373	ensembl	human	known	69_37n	frame_shift_del	180	35.48	99	DEL	1.000	-
ETV6	2120	genome.wustl.edu	37	12	12038880	12038880	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:12038880T>A	ENST00000396373.4	+	7	1447	c.1173T>A	c.(1171-1173)taT>taA	p.Y391*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	391					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				ACATGACCTATGAGAAAATGT	0.438			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"""L, E, M"""	0													118.0	111.0	113.0					12																	12038880		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1173T>A	12.37:g.12038880T>A	ENSP00000379658:p.Tyr391*	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Nonsense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.Y391*	ENST00000396373.4	37	c.1173	CCDS8643.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	37|37	6.211216|6.211216	0.97380|0.97380	.|.	.|.	ENSG00000139083|ENSG00000139083	ENST00000266427|ENST00000396373	.|.	.|.	.|.	4.95|4.95	2.6|2.6	0.31112|0.31112	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.7321|8.7321	0.34505|0.34505	0.0:0.1571:0.0:0.8429|0.0:0.1571:0.0:0.8429	.|.	.|.	.|.	.|.	R|X	4|391	.|.	.|.	X|Y	+|+	1|3	0|2	ETV6|ETV6	11930147|11930147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.336000|1.336000	0.33850|0.33850	0.344000|0.344000	0.23847|0.23847	0.533000|0.533000	0.62120|0.62120	TGA|TAT	ETV6	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000139083		0.438	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	HGNC	protein_coding	OTTHUMT00000400130.2	304	0.00	0	T	NM_001987		12038880	12038880	+1	no_errors	ENST00000396373	ensembl	human	known	69_37n	nonsense	182	35.34	100	SNP	1.000	A
EVPL	2125	genome.wustl.edu	37	17	74019420	74019421	+	Frame_Shift_Ins	INS	-	-	G	rs57576632	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:74019420_74019421insG	ENST00000301607.3	-	4	685_686	c.432_433insC	c.(430-435)cccgacfs	p.D145fs	EVPL_ENST00000586740.1_Frame_Shift_Ins_p.D145fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	145	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCCACGTCGGGGGGCAGCA	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.433dupC	17.37:g.74019426_74019426dupG	ENSP00000301607:p.Asp145fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV5	Frame_Shift_Ins	INS	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D144fs	ENST00000301607.3	37	c.433_432	CCDS11737.1	17																																																																																			EVPL	-	NULL	ENSG00000167880		0.624	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	194	0.00	0	-	NM_001988		74019420	74019421	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	frame_shift_ins	357	13.35	55	INS	0.023:0.005	G
EVPL	2125	genome.wustl.edu	37	17	74019442	74019442	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:74019442G>A	ENST00000301607.3	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y	EVPL_ENST00000586740.1_Silent_p.Y137Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	137	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCATCTTCTCGTACAGGGCAC	0.632																																						dbGAP											0													97.0	94.0	95.0					17																	74019442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.411C>T	17.37:g.74019442G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Y137	ENST00000301607.3	37	c.411	CCDS11737.1	17																																																																																			EVPL	-	NULL	ENSG00000167880		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	198	0.00	0	G	NM_001988		74019442	74019442	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	silent	333	20.19	85	SNP	0.322	A
EXOC1	55763	genome.wustl.edu	37	4	56730508	56730508	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:56730508G>A	ENST00000381295.2	+	4	719	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.R124Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.R124Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	124					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CGATATCTCCGGAAGAAAATT	0.289																																						dbGAP											0													53.0	54.0	53.0					4																	56730508		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.371G>A	4.37:g.56730508G>A	ENSP00000370695:p.Arg124Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1	p.R124Q	ENST00000381295.2	37	c.371	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336406	0.60963	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.07	5.07	0.68467	.	0.116551	0.56097	D	0.000026	T	0.38558	0.1045	N	0.16656	0.425	0.80722	D	1	P;D	0.54207	0.948;0.965	B;B	0.42422	0.387;0.351	T	0.18681	-1.0329	9	0.13108	T	0.6	.	18.8032	0.92027	0.0:0.0:1.0:0.0	.	124;124	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Q	124	.	ENSP00000326514:R124Q	R	+	2	0	EXOC1	56425265	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.420000	0.97426	2.510000	0.84645	0.557000	0.71058	CGG	EXOC1	-	NULL	ENSG00000090989		0.289	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	118	0.84	1	G	NM_018261		56730508	56730508	+1	no_errors	ENST00000346134	ensembl	human	known	69_37n	missense	119	37.37	71	SNP	1.000	A
EXOSC8	11340	genome.wustl.edu	37	13	37577085	37577085	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:37577085G>A	ENST00000389704.3	+	4	398	c.133G>A	c.(133-135)Gca>Aca	p.A45T	ALG5_ENST00000496689.1_5'Flank|EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	45					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		AATTAGTACCGCAGATGGTTC	0.308																																						dbGAP											0													112.0	108.0	110.0					13																	37577085		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.133G>A	13.37:g.37577085G>A	ENSP00000374354:p.Ala45Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43480|Q5TBA5	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.A45T	ENST00000389704.3	37	c.133	CCDS31958.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.502317	0.96371	.	.	ENSG00000120699	ENST00000389704;ENST00000379809	T	0.71934	-0.61	5.65	5.65	0.86999	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.81252	-0.1017	10	0.33141	T	0.24	-19.8597	20.0965	0.97849	0.0:0.0:1.0:0.0	.	45;45	Q5JXM0;Q96B26	.;EXOS8_HUMAN	T	45	ENSP00000374354:A45T	ENSP00000369137:A45T	A	+	1	0	EXOSC8	36475085	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	GCA	EXOSC8	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000120699		0.308	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	HGNC	protein_coding	OTTHUMT00000044535.2	415	0.00	0	G	NM_181503		37577085	37577085	+1	no_errors	ENST00000389704	ensembl	human	known	69_37n	missense	311	34.66	165	SNP	1.000	A
F10	2159	genome.wustl.edu	37	13	113777177	113777177	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:113777177G>A	ENST00000375559.3	+	1	46	c.8G>A	c.(7-9)cGc>cAc	p.R3H	F10_ENST00000375551.3_Missense_Mutation_p.R3H|F10_ENST00000483537.1_3'UTR|F10_ENST00000409306.1_Missense_Mutation_p.R3H	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	3					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ACCATGGGGCGCCCACTGCAC	0.647																																						dbGAP											0													84.0	61.0	69.0					13																	113777177		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.8G>A	13.37:g.113777177G>A	ENSP00000364709:p.Arg3His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.R3H	ENST00000375559.3	37	c.8	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	G	4.558	0.103670	0.08731	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95788	-3.78;-3.81;-2.93	3.91	0.0441	0.14224	.	0.534854	0.19193	N	0.120386	D	0.86401	0.5924	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.75918	-0.3148	10	0.35671	T	0.21	.	8.0328	0.30476	0.3529:0.0:0.6471:0.0	.	3;3;3	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	H	3	ENSP00000387092:R3H;ENSP00000364701:R3H;ENSP00000364709:R3H	ENSP00000364701:R3H	R	+	2	0	F10	112825178	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.061000	0.30542	-0.167000	0.10871	-0.670000	0.03821	CGC	F10	-	pirsf_Pept_S1A_FX	ENSG00000126218		0.647	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	43	0.00	0	G			113777177	113777177	+1	no_errors	ENST00000375559	ensembl	human	known	69_37n	missense	21	44.74	17	SNP	0.000	A
F10	2159	genome.wustl.edu	37	13	113801805	113801805	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:113801805G>T	ENST00000375559.3	+	7	898	c.860G>T	c.(859-861)aGg>aTg	p.R287M	F10_ENST00000375551.3_Intron|F10_ENST00000409306.1_Splice_Site_p.R287M	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	287	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			KVRV -> E (in Ref. 6; AAA51984 and 8; AAA52486). {ECO:0000305}.	blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TTCAAGGTGAGGGTAGGTAAG	0.517																																						dbGAP											0													82.0	66.0	72.0					13																	113801805		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.860G>T	13.37:g.113801805G>T	ENSP00000364709:p.Arg287Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.R287M	ENST00000375559.3	37	c.860	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510623	0.44660	.	.	ENSG00000126218	ENST00000409306;ENST00000375559	D;D	0.89485	-2.52;-2.52	4.95	4.01	0.46588	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.553031	0.19547	N	0.111656	D	0.94486	0.8225	M	0.89414	3.03	0.32016	N	0.601378	D;D	0.69078	0.997;0.995	D;D	0.76575	0.969;0.988	D	0.93918	0.7203	10	0.51188	T	0.08	.	11.8607	0.52465	0.0:0.0:0.7178:0.2822	.	287;287	B7ZBK1;P00742	.;FA10_HUMAN	M	287	ENSP00000387092:R287M;ENSP00000364709:R287M	ENSP00000364709:R287M	R	+	2	0	F10	112849806	0.998000	0.40836	1.000000	0.80357	0.344000	0.29017	2.218000	0.42889	2.294000	0.77228	0.491000	0.48974	AGG	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000126218		0.517	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	124	0.00	0	G			113801805	113801805	+1	no_errors	ENST00000375559	ensembl	human	known	69_37n	missense	83	36.64	48	SNP	0.998	T
FAF2	23197	genome.wustl.edu	37	5	175916028	175916028	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:175916028G>T	ENST00000261942.6	+	4	397	c.344G>T	c.(343-345)aGg>aTg	p.R115M	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	115					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GATATATTTAGGTATGTACCT	0.348																																						dbGAP											0													123.0	118.0	120.0					5																	175916028		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.344+1G>T	5.37:g.175916028G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX	p.R115M	ENST00000261942.6	37	c.344	CCDS34296.1	5	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825825	0.71143	.	.	ENSG00000113194	ENST00000261942;ENST00000540174	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59293	0.2183	L	0.42245	1.32	0.80722	D	1	B	0.22604	0.072	B	0.20767	0.031	T	0.54569	-0.8274	9	0.52906	T	0.07	-12.9915	20.2142	0.98291	0.0:0.0:1.0:0.0	.	115	Q96CS3	FAF2_HUMAN	M	115	.	ENSP00000261942:R115M	R	+	2	0	FAF2	175848634	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.105000	0.94246	2.851000	0.98039	0.609000	0.83330	AGG	FAF2	-	NULL	ENSG00000113194		0.348	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF2	HGNC	protein_coding	OTTHUMT00000372194.1	470	0.00	0	G	NM_014613	Missense_Mutation	175916028	175916028	+1	no_errors	ENST00000261942	ensembl	human	known	69_37n	missense	309	36.29	176	SNP	1.000	T
FAM110B	90362	genome.wustl.edu	37	8	59058872	59058872	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:59058872G>A	ENST00000361488.3	+	5	963	c.83G>A	c.(82-84)cGc>cAc	p.R28H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	28						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTGCCCCTGCGCATCCTGAAC	0.662																																						dbGAP											0													36.0	36.0	36.0					8																	59058872		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.83G>A	8.37:g.59058872G>A	ENSP00000355204:p.Arg28His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BM08|Q9Y4K2	Missense_Mutation	SNP	NULL	p.R28H	ENST00000361488.3	37	c.83	CCDS6170.1	8	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184454	0.57800	.	.	ENSG00000169122	ENST00000361488	T	0.62788	-0.0	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80211	-0.1476	9	.	.	.	-28.6181	18.2903	0.90127	0.0:0.0:1.0:0.0	.	28	Q8TC76	F110B_HUMAN	H	28	ENSP00000355204:R28H	.	R	+	2	0	FAM110B	59221426	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	9.640000	0.98453	2.312000	0.78011	0.313000	0.20887	CGC	FAM110B	-	NULL	ENSG00000169122		0.662	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2	36	0.00	0	G	NM_147189		59058872	59058872	+1	no_errors	ENST00000361488	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	A
FAM120A	23196	genome.wustl.edu	37	9	96294530	96294530	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:96294530T>C	ENST00000277165.6	+	10	2022	c.1828T>C	c.(1828-1830)Tac>Cac	p.Y610H	FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000333936.5_Missense_Mutation_p.Y638H|FAM120A_ENST00000340893.4_Missense_Mutation_p.Y610H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	610						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCAGTATGTTTACGGAGTCCT	0.433																																						dbGAP											0													129.0	132.0	131.0					9																	96294530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1828T>C	9.37:g.96294530T>C	ENSP00000277165:p.Tyr610His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.Y638H	ENST00000277165.6	37	c.1912	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611820	0.87258	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.99	5.99	0.97316	.	0.091379	0.47852	D	0.000213	T	0.69797	0.3151	M	0.74647	2.275	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.997;0.998;0.996;1.0	T	0.73248	-0.4043	10	0.87932	D	0	-14.8109	16.4943	0.84223	0.0:0.0:0.0:1.0	.	610;638;610;610	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2	.;.;.;F120A_HUMAN	H	610;638;610;32	ENSP00000277165:Y610H;ENSP00000334918:Y638H;ENSP00000344698:Y610H;ENSP00000412440:Y32H	ENSP00000277165:Y610H	Y	+	1	0	FAM120A	95334351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.939000	0.75911	2.291000	0.77112	0.533000	0.62120	TAC	FAM120A	-	NULL	ENSG00000048828		0.433	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	190	0.00	0	T	NM_014612		96294530	96294530	+1	no_errors	ENST00000333936	ensembl	human	known	69_37n	missense	144	34.25	75	SNP	1.000	C
FAM13C	220965	genome.wustl.edu	37	10	61028377	61028377	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:61028377A>G	ENST00000373868.2	-	8	965	c.878T>C	c.(877-879)aTc>aCc	p.I293T	FAM13C_ENST00000435852.2_Missense_Mutation_p.I293T|FAM13C_ENST00000468840.2_Missense_Mutation_p.I210T|FAM13C_ENST00000442566.3_Missense_Mutation_p.I314T|FAM13C_ENST00000373867.3_Missense_Mutation_p.I210T|FAM13C_ENST00000419214.2_Missense_Mutation_p.I293T|FAM13C_ENST00000422313.2_Missense_Mutation_p.I293T|FAM13C_ENST00000277705.6_Missense_Mutation_p.I314T	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	293										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GAGGCTCTGGATGTGCTTGGT	0.502																																						dbGAP											0													66.0	65.0	65.0					10																	61028377		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.878T>C	10.37:g.61028377A>G	ENSP00000362975:p.Ile293Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.I293T	ENST00000373868.2	37	c.878	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810379	0.70797	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;0.55;-1.01;-1.01;-1.01;-1.01	6.16	6.16	0.99307	.	0.211314	0.40818	N	0.001006	D	0.85856	0.5794	M	0.80183	2.485	0.41615	D	0.988934	P;P;D;P;P	0.55800	0.726;0.867;0.973;0.675;0.51	B;P;P;B;B	0.53861	0.389;0.545;0.736;0.202;0.279	D	0.87987	0.2747	10	0.87932	D	0	-7.7191	16.8061	0.85666	1.0:0.0:0.0:0.0	.	293;210;293;293;293	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	T	210;293;314;314;293;210;293;293;71	ENSP00000362974:I210T;ENSP00000362975:I293T;ENSP00000395661:I314T;ENSP00000277705:I314T;ENSP00000391993:I293T;ENSP00000423896:I210T;ENSP00000392302:I293T;ENSP00000400241:I293T;ENSP00000445068:I71T	ENSP00000277705:I314T	I	-	2	0	FAM13C	60698383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.207000	0.89746	2.367000	0.80283	0.528000	0.53228	ATC	FAM13C	-	NULL	ENSG00000148541		0.502	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	222	0.00	0	A			61028377	61028377	-1	no_errors	ENST00000373868	ensembl	human	known	69_37n	missense	154	39.61	101	SNP	1.000	G
FAM153B	202134	genome.wustl.edu	37	5	175540825	175540825	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:175540825C>T	ENST00000253490.4	+	20	1082	c.1025C>T	c.(1024-1026)gCa>gTa	p.A342V	FAM153B_ENST00000510151.1_Missense_Mutation_p.A265V|FAM153B_ENST00000512862.1_Missense_Mutation_p.A99V|FAM153B_ENST00000515817.1_Missense_Mutation_p.A265V			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	342										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CCTTCCTCTGCACCTGCAGAA	0.517																																						dbGAP											0													4.0	4.0	4.0					5																	175540825		1991	4036	6027	-	-	-	SO:0001583	missense	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.1025C>T	5.37:g.175540825C>T	ENSP00000253490:p.Ala342Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.A342V	ENST00000253490.4	37	c.1025		5	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119522	0.20877	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.861	-1.72	0.08107	.	.	.	.	.	T	0.14917	0.0360	N	0.14661	0.345	0.09310	N	1	B	0.26845	0.161	B	0.22386	0.039	T	0.24977	-1.0145	8	0.13470	T	0.59	.	2.8822	0.05650	0.0:0.381:0.2529:0.366	.	342	P0C7A2	F153B_HUMAN	V	265;342	.	ENSP00000253490:A342V	A	+	2	0	FAM153B	175473431	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.347000	0.02632	-1.511000	0.01794	-0.490000	0.04691	GCA	FAM153B	-	prints_FAM153	ENSG00000182230		0.517	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		174	0.00	0	C	NM_001079529		175540825	175540825	+1	no_errors	ENST00000253490	ensembl	human	known	69_37n	missense	101	36.48	58	SNP	0.000	T
FAM160A1	729830	genome.wustl.edu	37	4	152507927	152507929	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:152507927_152507929delGGA	ENST00000505231.1	+	4	1026_1028	c.867_869delGGA	c.(865-870)ctggag>ctg	p.E290del	FAM160A1_ENST00000435205.1_In_Frame_Del_p.E290del			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	290										endometrium(2)|kidney(1)	3						TGAACTCCCTGGAGTTTTGCAAT	0.448																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.867_869delGGA	4.37:g.152507927_152507929delGGA	ENSP00000421580:p.Glu290del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUS2	In_Frame_Del	DEL	pfam_RetinoicA-induced_16-like	p.E290in_frame_del	ENST00000505231.1	37	c.867_869	CCDS47146.1	4																																																																																			FAM160A1	-	pfam_RetinoicA-induced_16-like	ENSG00000164142		0.448	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	HGNC	protein_coding	OTTHUMT00000365691.1	212	0.00	0	GGA	NM_001109977		152507927	152507929	+1	no_errors	ENST00000435205	ensembl	human	known	69_37n	in_frame_del	165	31.69	77	DEL	1.000:1.000:1.000	-
FAM161B	145483	genome.wustl.edu	37	14	74413076	74413076	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:74413076delT	ENST00000534936.1	-	2	392	c.287delA	c.(286-288)aacfs	p.N96fs	FAM161B_ENST00000286544.3_Frame_Shift_Del_p.N159fs			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	96				N -> S (in Ref. 1; BAH13868). {ECO:0000305}.						breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TTCAGAGAGGTTTTCATCACT	0.517																																						dbGAP											0													146.0	147.0	147.0					14																	74413076		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.287delA	14.37:g.74413076delT	ENSP00000445326:p.Asn96fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z882|J3KNA2	Frame_Shift_Del	DEL	pfam_UPF0564	p.N159fs	ENST00000534936.1	37	c.476		14																																																																																			FAM161B	-	NULL	ENSG00000156050		0.517	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	FAM161B	HGNC	protein_coding		177	0.00	0	T	NM_152445		74413076	74413076	-1	no_errors	ENST00000286544	ensembl	human	known	69_37n	frame_shift_del	146	25.74	52	DEL	0.000	-
FAM162A	26355	genome.wustl.edu	37	3	122123122	122123122	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:122123122C>T	ENST00000477892.1	+	3	259	c.175C>T	c.(175-177)Cct>Tct	p.P59S	FAM162A_ENST00000469967.1_Missense_Mutation_p.P59S|FAM162A_ENST00000232125.5_Missense_Mutation_p.P49S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						CAACAGAGTGCCTTTACACAA	0.378																																						dbGAP											0													81.0	77.0	78.0					3																	122123122		1852	4081	5933	-	-	-	SO:0001583	missense	0			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.175C>T	3.37:g.122123122C>T	ENSP00000419088:p.Pro59Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NRN6|Q9UJX8	Missense_Mutation	SNP	pfam_DUF1075	p.P59S	ENST00000477892.1	37	c.175	CCDS43139.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.115336|4.115336	0.77323|0.77323	.|.	.|.	ENSG00000114023|ENSG00000114023	ENST00000440333|ENST00000232125;ENST00000477892;ENST00000469967	.|T;T;T	.|0.32272	.|1.46;1.46;1.46	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.525331	.|0.22630	.|N	.|0.057583	T|T	0.59500|0.59500	0.2198|0.2198	M|M	0.84846|0.84846	2.72|2.72	0.39504|0.39504	D|D	0.968246|0.968246	.|D;D	.|0.67145	.|0.996;0.995	.|D;D	.|0.70227	.|0.968;0.926	T|T	0.63972|0.63972	-0.6516|-0.6516	6|10	0.23302|0.62326	T|D	0.38|0.03	.|.	15.093|15.093	0.72211|0.72211	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|59;59	.|E9PH05;Q96A26	.|.;F162A_HUMAN	V|S	59|49;59;59	.|ENSP00000232125:P49S;ENSP00000419088:P59S;ENSP00000419491:P59S	ENSP00000405770:A59V|ENSP00000232125:P49S	A|P	+|+	2|1	0|0	FAM162A|FAM162A	123605812|123605812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.362000|4.362000	0.59467|0.59467	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCT	FAM162A	-	pfam_DUF1075	ENSG00000114023		0.378	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162A	HGNC	protein_coding	OTTHUMT00000355766.1	190	0.00	0	C	NM_014367		122123122	122123122	+1	no_errors	ENST00000477892	ensembl	human	known	69_37n	missense	144	38.46	90	SNP	1.000	T
FAM166A	401565	genome.wustl.edu	37	9	140139311	140139311	+	Intron	SNP	C	C	T	rs138556037		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:140139311C>T	ENST00000344774.4	-	5	707				FAM166A_ENST00000388932.2_Missense_Mutation_p.A258T	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A							nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGAACGTTGGCGACTGTCTGA	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18039	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.653-123G>A	9.37:g.140139311C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NND9|Q8N830	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.A258T	ENST00000344774.4	37	c.772	CCDS35186.1	9	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.618	0.482464	0.12581	.	.	ENSG00000188163	ENST00000388932	.	.	.	2.75	-5.5	0.02576	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47407	-0.9120	5	0.87932	D	0	.	6.0552	0.19807	0.0:0.5539:0.1602:0.2859	.	.	.	.	T	258	.	ENSP00000373584:A258T	A	-	1	0	FAM166A	139259132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.202000	0.09451	-1.457000	0.01919	-0.406000	0.06334	GCC	FAM166A	-	NULL	ENSG00000188163		0.632	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM166A	HGNC	protein_coding	OTTHUMT00000356125.1	30	0.00	0	C	NM_001001710		140139311	140139311	-1	no_errors	ENST00000388932	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	0.000	T
FAM173B	134145	genome.wustl.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T	rs559270054		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:10239183C>T	ENST00000511437.1	-	2	314	c.302G>A	c.(301-303)cGc>cAc	p.R101H	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral component of membrane (GO:0016021)		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											112.0	109.0	110.0					5																	10239183		1981	4143	6124	-	-	-	SO:0001583	missense	0				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.302G>A	5.37:g.10239183C>T	ENSP00000422338:p.Arg101His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	NULL	p.R101H	ENST00000511437.1	37	c.302	CCDS43301.1	5	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586693	0.66105	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.37752	1.18;1.18	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79831	-0.1637	10	0.87932	D	0	-24.1078	17.7316	0.88379	0.0:1.0:0.0:0.0	.	101;101	E9PBZ4;Q6P4H8	.;F173B_HUMAN	H	101	ENSP00000422338:R101H;ENSP00000420876:R101H	ENSP00000424210:R101H	R	-	2	0	FAM173B	10292183	1.000000	0.71417	0.098000	0.21074	0.140000	0.21249	6.966000	0.76073	2.430000	0.82344	0.655000	0.94253	CGC	FAM173B	-	NULL	ENSG00000150756		0.398	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM173B	HGNC	protein_coding	OTTHUMT00000366048.2	172	0.00	0	C	NM_199133		10239183	10239183	-1	no_errors	ENST00000511437	ensembl	human	known	69_37n	missense	118	41.29	83	SNP	0.955	T
FAM179B	23116	genome.wustl.edu	37	14	45542735	45542735	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:45542735C>T	ENST00000361577.3	+	19	5348	c.5134C>T	c.(5134-5136)Ctc>Ttc	p.L1712F	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.L1765F	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1712										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGGAATTACTCGATATGAC	0.318																																						dbGAP											0													66.0	65.0	65.0					14																	45542735		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.5134C>T	14.37:g.45542735C>T	ENSP00000355045:p.Leu1712Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1712F	ENST00000361577.3	37	c.5134	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147328	0.57151	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.24350	1.86;1.86;1.86	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46624	-0.9178	10	0.87932	D	0	-10.5284	18.1139	0.89545	0.0:1.0:0.0:0.0	.	1765;1712	G3XAE9;Q9Y4F4	.;F179B_HUMAN	F	1712;1765;147	ENSP00000355045:L1712F;ENSP00000354917:L1765F;ENSP00000450465:L147F	ENSP00000354917:L1765F	L	+	1	0	FAM179B	44612485	1.000000	0.71417	0.973000	0.42090	0.942000	0.58702	3.539000	0.53604	2.814000	0.96858	0.655000	0.94253	CTC	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.318	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	172	0.00	0	C	XM_113781		45542735	45542735	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	missense	109	37.71	66	SNP	1.000	T
FAM193B	54540	genome.wustl.edu	37	5	176951489	176951489	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:176951489T>C	ENST00000514747.1	-	6	2041	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.K291E|FAM193B_ENST00000443375.2_Missense_Mutation_p.K632E	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	745						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						ACCTGGCCCTTGGCACTGGGA	0.687																																						dbGAP											0													14.0	16.0	15.0					5																	176951489		1901	4105	6006	-	-	-	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1993A>G	5.37:g.176951489T>C	ENSP00000422131:p.Lys665Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.K632E	ENST00000514747.1	37	c.1894	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.36|14.36	2.511065|2.511065	0.44660|0.44660	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.49720|.	0.77;0.77;0.77|.	5.71|5.71	4.55|4.55	0.56014|0.56014	.|.	0.387651|.	0.31495|.	N|.	0.007547|.	T|T	0.55081|0.55081	0.1898|0.1898	L|L	0.46157|0.46157	1.445|1.445	0.38836|0.38836	D|D	0.955955|0.955955	D;P;D|.	0.71674|.	0.998;0.782;0.976|.	D;B;P|.	0.78314|.	0.991;0.223;0.496|.	T|T	0.54036|0.54036	-0.8353|-0.8353	10|5	0.34782|.	T|.	0.22|.	-19.153|-19.153	7.6921|7.6921	0.28573|0.28573	0.0:0.0693:0.1418:0.7889|0.0:0.0693:0.1418:0.7889	.|.	665;291;632|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	E|R	665;632;291|350	ENSP00000422131:K665E;ENSP00000410098:K632E;ENSP00000332014:K291E|.	ENSP00000332014:K291E|.	K|Q	-|-	1|2	0|0	FAM193B|FAM193B	176884095|176884095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.303000|0.303000	0.27691|0.27691	3.041000|3.041000	0.49807|0.49807	1.006000|1.006000	0.39211|0.39211	-0.372000|-0.372000	0.07161|0.07161	AAG|CAA	FAM193B	-	NULL	ENSG00000146067		0.687	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	40	0.00	0	T	NM_019057		176951489	176951489	-1	no_errors	ENST00000443375	ensembl	human	known	69_37n	missense	36	30.77	16	SNP	0.989	C
FAM200B	285550	genome.wustl.edu	37	4	15689832	15689832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:15689832delA	ENST00000422728.2	+	2	2070	c.1232delA	c.(1231-1233)gaafs	p.E411fs	FAM200B_ENST00000504137.1_Intron	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	411							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						tttctcattgaaaaaaaatct	0.313																																						dbGAP											0													29.0	24.0	25.0					4																	15689832		692	1587	2279	-	-	-	SO:0001589	frameshift_variant	0			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.1232delA	4.37:g.15689832delA	ENSP00000393017:p.Glu411fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	superfamily_RNaseH-like_dom,superfamily_PAH	p.K413fs	ENST00000422728.2	37	c.1232	CCDS47028.1	4																																																																																			FAM200B	-	superfamily_RNaseH-like_dom	ENSG00000237765		0.313	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	52	0.00	0	A	NM_001145191		15689832	15689832	+1	no_errors	ENST00000422728	ensembl	human	putative	69_37n	frame_shift_del	44	25.81	16	DEL	0.214	-
FAM205A	259308	genome.wustl.edu	37	9	34728071	34728071	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:34728071G>A	ENST00000378788.3	-	3	238	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	67						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						TCCCGGGAACGTCTCCTAGCT	0.463																																						dbGAP											0													96.0	93.0	94.0					9																	34728071		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.199C>T	9.37:g.34728071G>A	ENSP00000417711:p.Arg67Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVW7	Missense_Mutation	SNP	NULL	p.R67C	ENST00000378788.3	37	c.199	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047088	0.19827	.	.	ENSG00000205108	ENST00000378788	T	0.23147	1.92	4.46	-0.849	0.10723	.	.	.	.	.	T	0.09730	0.0239	N	0.08118	0	0.20975	N	0.999811	B	0.06786	0.001	B	0.04013	0.001	T	0.28427	-1.0044	9	0.36615	T	0.2	.	0.6903	0.00890	0.3028:0.1918:0.3442:0.1612	.	67	Q6ZU69	F205A_HUMAN	C	67	ENSP00000417711:R67C	ENSP00000417711:R67C	R	-	1	0	RP11-195F19.10	34718071	0.000000	0.05858	0.104000	0.21259	0.783000	0.44284	-0.623000	0.05546	-0.026000	0.13895	0.650000	0.86243	CGT	FAM205A	-	NULL	ENSG00000205108		0.463	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	219	0.00	0	G	NM_001141917		34728071	34728071	-1	no_errors	ENST00000378788	ensembl	human	novel	69_37n	missense	156	35.54	86	SNP	0.078	A
FAM208B	54906	genome.wustl.edu	37	10	5798656	5798656	+	Silent	SNP	A	A	G	rs374568998	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:5798656A>G	ENST00000328090.5	+	16	7312	c.6687A>G	c.(6685-6687)ctA>ctG	p.L2229L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2229																	ATGATACACTAATCATCATCA	0.383																																						dbGAP											0													120.0	106.0	110.0					10																	5798656		1877	4107	5984	-	-	-	SO:0001819	synonymous_variant	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6687A>G	10.37:g.5798656A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	pfam_DUF3715,pfam_DUF3699	p.L2229	ENST00000328090.5	37	c.6687	CCDS41485.1	10																																																																																			FAM208B	-	NULL	ENSG00000108021		0.383	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	236	0.00	0	A	NM_017782		5798656	5798656	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	silent	164	31.95	77	SNP	0.000	G
FAM219A	203259	genome.wustl.edu	37	9	34401027	34401028	+	Frame_Shift_Ins	INS	-	-	G	rs202019820		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:34401027_34401028insG	ENST00000445726.1	-	6	798_799	c.492_493insC	c.(490-495)cccaagfs	p.K165fs	FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.K163fs|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.K146fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.K148fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.K136fs|FAM219A_ENST00000379084.1_Splice_Site_p.N147fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.K152fs	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	165																	TTCACGGACTTGGGGGGGATGA	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.493dupC	9.37:g.34401034_34401034dupG	ENSP00000392452:p.Lys165fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Frame_Shift_Ins	INS	NULL	p.K164fs	ENST00000445726.1	37	c.493_492	CCDS55304.1	9																																																																																			FAM219A	-	NULL	ENSG00000164970		0.644	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM219A	HGNC	protein_coding		204	0.00	0	-	NM_001184940		34401027	34401028	-1	no_errors	ENST00000445726	ensembl	human	known	69_37n	frame_shift_ins	158	22.93	47	INS	1.000:0.999	G
FAM21A	387680	genome.wustl.edu	37	10	51890690	51890690	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:51890690A>G	ENST00000282633.5	+	30	3783	c.3738A>G	c.(3736-3738)aaA>aaG	p.K1246K	FAM21A_ENST00000399339.2_Silent_p.K1158K|FAM21A_ENST00000314664.7_Silent_p.K1184K|FAM21A_ENST00000351071.6_Silent_p.K1225K	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1246					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AAGCAATTAAACCCTCTCAGA	0.294																																						dbGAP											0													8.0	9.0	8.0					10																	51890690		1662	3392	5054	-	-	-	SO:0001819	synonymous_variant	0			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3738A>G	10.37:g.51890690A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3S2|A2A3U6|Q6DHY0	Silent	SNP	NULL	p.K1246	ENST00000282633.5	37	c.3738	CCDS41527.1	10																																																																																			FAM21A	-	NULL	ENSG00000099290		0.294	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	315	0.00	0	A	NM_001005751		51890690	51890690	+1	no_errors	ENST00000282633	ensembl	human	known	69_37n	silent	230	32.35	110	SNP	0.999	G
FAM227A	646851	genome.wustl.edu	37	22	39024946	39024946	+	Intron	DEL	A	A	-	rs553931988		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:39024946delA	ENST00000535113.1	-	7	1123				FAM227A_ENST00000355830.6_Intron|FAM227A_ENST00000540952.1_Intron|FAM227A_ENST00000406767.2_Intron	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A																		AAATGCTTGGAAAAAAAAATT	0.333																																						dbGAP											0													50.0	45.0	47.0					22																	39024946		692	1591	2283	-	-	-	SO:0001627	intron_variant	0					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.520-6T>-	22.37:g.39024946delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY52|B7Z7C6|Q5TG08	RNA	DEL	-	NULL	ENST00000535113.1	37	NULL		22																																																																																			FAM227A	-	-	ENSG00000184949		0.333	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding		72	0.00	0	A	NM_001013647		39024946	39024946	-1	no_errors	ENST00000543295	ensembl	human	known	69_37n	rna	52	32.91	26	DEL	0.000	-
FAM26E	254228	genome.wustl.edu	37	6	116833357	116833357	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:116833357C>T	ENST00000368599.3	+	1	549	c.498C>T	c.(496-498)acC>acT	p.T166T	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_5'UTR	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	166					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGCTACCTACCGTCAATGAAG	0.458																																						dbGAP											0													74.0	72.0	73.0					6																	116833357		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.498C>T	6.37:g.116833357C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDJ9|B3KSR3	Silent	SNP	NULL	p.T166	ENST00000368599.3	37	c.498	CCDS5108.1	6																																																																																			FAM26E	-	NULL	ENSG00000178033		0.458	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	106	0.00	0	C	NM_153711		116833357	116833357	+1	no_errors	ENST00000368599	ensembl	human	known	69_37n	silent	69	34.91	37	SNP	0.000	T
FAM43A	131583	genome.wustl.edu	37	3	194408622	194408624	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	TTA	TTA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:194408622_194408624delTTA	ENST00000329759.4	+	1	2001_2003	c.1067_1069delTTA	c.(1066-1071)cttatt>ctt	p.I357del		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	357										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		CTGTCGCAACTTATTAGCGACCT	0.719																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK074503	CCDS33923.1	3q29	2004-07-28			ENSG00000185112	ENSG00000185112			26888	protein-coding gene	gene with protein product						12477932	Standard	NM_153690		Approved	FLJ90022	uc003fuj.3	Q8N2R8	OTTHUMG00000156016	ENST00000329759.4:c.1067_1069delTTA	3.37:g.194408625_194408627delTTA	ENSP00000371397:p.Ile357del	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KME2|Q8IXP4|Q8WZ07	In_Frame_Del	DEL	smart_PTyr_interaction_dom	p.I357in_frame_del	ENST00000329759.4	37	c.1067_1069	CCDS33923.1	3																																																																																			FAM43A	-	NULL	ENSG00000185112		0.719	FAM43A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM43A	HGNC	protein_coding	OTTHUMT00000342734.1	13	0.00	0	TTA	NM_153690		194408622	194408624	+1	no_errors	ENST00000329759	ensembl	human	known	69_37n	in_frame_del	10	28.57	4	DEL	0.999:0.941:1.000	-
FAM47A	158724	genome.wustl.edu	37	X	34148936	34148936	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:34148936C>T	ENST00000346193.3	-	1	1511	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	487								p.R487Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACCTCCGACGTGTCTT	0.642																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											47.0	54.0	51.0					X																	34148936		2192	4286	6478	-	-	-	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1460G>A	X.37:g.34148936C>T	ENSP00000345029:p.Arg487Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R487Q	ENST00000346193.3	37	c.1460	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	9.489	1.100058	0.20552	.	.	ENSG00000185448	ENST00000346193	T	0.16196	2.36	0.446	0.446	0.16602	.	.	.	.	.	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	P	0.44811	0.461	T	0.23762	-1.0179	8	0.13470	T	0.59	.	.	.	.	.	487	Q5JRC9	FA47A_HUMAN	Q	487	ENSP00000345029:R487Q	ENSP00000345029:R487Q	R	-	2	0	FAM47A	34058857	0.022000	0.18835	0.006000	0.13384	0.016000	0.09150	0.010000	0.13242	0.435000	0.26365	0.183000	0.17082	CGG	FAM47A	-	NULL	ENSG00000185448		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	118	0.00	0	C	NM_203408		34148936	34148936	-1	no_errors	ENST00000346193	ensembl	human	known	69_37n	missense	83	41.96	60	SNP	0.330	T
BRINP2	57795	genome.wustl.edu	37	1	177199241	177199241	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:177199241C>T	ENST00000361539.4	+	2	541	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	77					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CTTCATGGAGCGGTACCGCCA	0.617																																						dbGAP											0													58.0	63.0	62.0					1																	177199241		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.229C>T	1.37:g.177199241C>T	ENSP00000354481:p.Arg77Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R77W	ENST00000361539.4	37	c.229	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415765	0.83449	.	.	ENSG00000198797	ENST00000361539	T	0.19250	2.16	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.49406	0.1555	M	0.80616	2.505	0.54753	D	0.999985	D	0.89917	1.0	D	0.63283	0.913	T	0.52749	-0.8534	10	0.87932	D	0	-27.1643	19.3047	0.94157	0.0:1.0:0.0:0.0	.	77	Q9C0B6	FAM5B_HUMAN	W	77	ENSP00000354481:R77W	ENSP00000354481:R77W	R	+	1	2	FAM5B	175465864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.961000	0.29267	2.652000	0.90054	0.655000	0.94253	CGG	FAM5B	-	NULL	ENSG00000198797		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	22	0.00	0	C	NM_021165		177199241	177199241	+1	no_errors	ENST00000361539	ensembl	human	known	69_37n	missense	62	16.00	12	SNP	1.000	T
FAM69B	138311	genome.wustl.edu	37	9	139617773	139617773	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139617773C>T	ENST00000371692.4	+	5	939	c.843C>T	c.(841-843)ttC>ttT	p.F281F	SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Silent_p.F194F|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	281						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGCTGGAGTTCGTGGAGGAGC	0.642																																						dbGAP											0													41.0	44.0	43.0					9																	139617773		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.843C>T	9.37:g.139617773C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUD7|Q8N5N0|Q8WYU5	Silent	SNP	pfam_Uncharacterised_FAM69	p.F281	ENST00000371692.4	37	c.843	CCDS7004.1	9																																																																																			FAM69B	-	pfam_Uncharacterised_FAM69	ENSG00000165716		0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	HGNC	protein_coding	OTTHUMT00000055102.1	39	0.00	0	C	NM_152421		139617773	139617773	+1	no_errors	ENST00000371692	ensembl	human	known	69_37n	silent	34	40.68	24	SNP	0.866	T
TMEM255A	55026	genome.wustl.edu	37	X	119410840	119410840	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:119410840A>T	ENST00000309720.5	-	8	770	c.647T>A	c.(646-648)aTc>aAc	p.I216N	TMEM255A_ENST00000371369.4_Missense_Mutation_p.I192N|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.I52N	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	216						integral component of membrane (GO:0016021)											GTAGAGGTGGATGATATCTTG	0.557																																						dbGAP											0													277.0	199.0	225.0					X																	119410840		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.647T>A	X.37:g.119410840A>T	ENSP00000310110:p.Ile216Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	NULL	p.I216N	ENST00000309720.5	37	c.647	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455876	0.84209	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.50813	0.73;0.73;0.73	5.27	5.27	0.74061	.	0.183165	0.49305	D	0.000146	T	0.62756	0.2454	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.965;0.999	P;D	0.70227	0.748;0.968	T	0.66122	-0.6002	10	0.87932	D	0	-15.3605	13.3151	0.60403	1.0:0.0:0.0:0.0	.	192;216	B1APR4;Q5JRV8	.;FA70A_HUMAN	N	216;192;52	ENSP00000310110:I216N;ENSP00000360420:I192N;ENSP00000360403:I52N	ENSP00000310110:I216N	I	-	2	0	FAM70A	119294868	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.165000	0.77544	1.737000	0.51674	0.481000	0.45027	ATC	FAM70A	-	NULL	ENSG00000125355		0.557	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM70A	HGNC	protein_coding	OTTHUMT00000058091.1	312	0.00	0	A	NM_017938		119410840	119410840	-1	no_errors	ENST00000309720	ensembl	human	known	69_37n	missense	209	35.06	115	SNP	1.000	T
FAM83C	128876	genome.wustl.edu	37	20	33875618	33875618	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:33875618G>A	ENST00000374408.3	-	4	1060	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	322										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAGGACGCAGTGCCCGGGGA	0.652																																						dbGAP											0													72.0	62.0	65.0					20																	33875618		2194	4294	6488	-	-	-	SO:0001819	synonymous_variant	0			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.964C>T	20.37:g.33875618G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14D67|Q5JWN6|Q8N276	Silent	SNP	pfam_DUF1669	p.L322	ENST00000374408.3	37	c.964	CCDS13251.1	20																																																																																			FAM83C	-	NULL	ENSG00000125998		0.652	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	136	0.72	1	G			33875618	33875618	-1	no_errors	ENST00000374408	ensembl	human	known	69_37n	silent	77	36.89	45	SNP	0.001	A
FANCB	2187	genome.wustl.edu	37	X	14863040	14863040	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:14863040delA	ENST00000324138.3	-	7	2018	c.1865delT	c.(1864-1866)ttafs	p.L622fs	FANCB_ENST00000398334.1_Frame_Shift_Del_p.L622fs	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	622					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTCTAGACTTAAAAAAACTCT	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													132.0	136.0	135.0					X																	14863040		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1865delT	X.37:g.14863040delA	ENSP00000326819:p.Leu622fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ4|Q7Z2U2|Q86XG1	Frame_Shift_Del	DEL	NULL	p.L622fs	ENST00000324138.3	37	c.1865	CCDS14161.1	X																																																																																			FANCB	-	NULL	ENSG00000181544		0.333	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCB	HGNC	protein_coding	OTTHUMT00000055835.1	132	0.00	0	A	NM_152633		14863040	14863040	-1	no_errors	ENST00000324138	ensembl	human	known	69_37n	frame_shift_del	100	34.57	56	DEL	0.328	-
FAT3	120114	genome.wustl.edu	37	11	92088179	92088179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:92088179delG	ENST00000298047.6	+	1	2918	c.2901delG	c.(2899-2901)ctgfs	p.L967fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.L967fs|FAT3_ENST00000541502.1_Frame_Shift_Del_p.L967fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.L817fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	967	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTTGGACTGGGGGGTCAAG	0.453										TCGA Ovarian(4;0.039)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2901delG	11.37:g.92088179delG	ENSP00000298047:p.Leu967fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.G969fs	ENST00000298047.6	37	c.2901		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.453	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		175	0.00	0	G	NM_001008781		92088179	92088179	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	frame_shift_del	113	39.27	75	DEL	0.985	-
FBXL18	80028	genome.wustl.edu	37	7	5540380	5540380	+	Missense_Mutation	SNP	C	C	T	rs199936573		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:5540380C>T	ENST00000382368.3	-	3	1643	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	FBXL18_ENST00000453700.3_Missense_Mutation_p.R507H	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	507								p.R507L(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GAGCGAGTTGCGGATGGCGGG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		12481	0.001		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - Missense(2)	lung(2)											12.0	16.0	15.0					7																	5540380		2063	4191	6254	-	-	-	SO:0001583	missense	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1520G>A	7.37:g.5540380C>T	ENSP00000371805:p.Arg507His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.R507H	ENST00000382368.3	37	c.1520	CCDS43546.1	7	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	24.4|24.4	4.529125|4.529125	0.85706|0.85706	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.42513	.|0.97;0.97	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55784|0.55784	0.1942|0.1942	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.56475|0.56475	-0.7973|-0.7973	5|10	.|0.56958	.|D	.|0.05	.|.	18.2766|18.2766	0.90085|0.90085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|507;507	.|F5H4Z4;Q96ME1-4	.|.;.	T|H	391|507	.|ENSP00000371805:R507H;ENSP00000444797:R507H	.|ENSP00000311990:R507H	A|R	-|-	1|2	0|0	FBXL18|FBXL18	5506906|5506906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	5.738000|5.738000	0.68613|0.68613	2.650000|2.650000	0.89964|0.89964	0.585000|0.585000	0.79938|0.79938	GCA|CGC	FBXL18	-	NULL	ENSG00000155034		0.662	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	8	0.00	0	C	NM_024963		5540380	5540380	-1	no_errors	ENST00000453700	ensembl	human	known	69_37n	missense	1	92.86	13	SNP	1.000	T
FBXL13	222235	genome.wustl.edu	37	7	102462840	102462840	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:102462840T>C	ENST00000313221.4	-	19	2281				FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000455112.2_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ctgcaattggtgtcttgggaa	0.433																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1855-190A>G	7.37:g.102462840T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	superfamily_F-box_dom_cyclin-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.T679	ENST00000313221.4	37	c.2037	CCDS5726.1	7																																																																																			FBXL13	-	NULL	ENSG00000161040		0.433	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	13	0.00	0	T	NM_145032		102462840	102462840	-1	no_errors	ENST00000448002	ensembl	human	known	69_37n	silent	5	50.00	5	SNP	0.000	C
FBXL6	26233	genome.wustl.edu	37	8	145580146	145580146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:145580146G>A	ENST00000331890.5	-	7	1103	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Nonsense_Mutation_p.R341*|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	347					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCCACCCCTCGTCCCGGAGGC	0.647																																						dbGAP											0													33.0	39.0	37.0					8																	145580146		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1039C>T	8.37:g.145580146G>A	ENSP00000330098:p.Arg347*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G43|Q9H5W9|Q9UKC7	Nonsense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.R347*	ENST00000331890.5	37	c.1039	CCDS6422.1	8	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592807	0.46214	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	.	.	.	4.92	2.02	0.26589	.	0.247112	0.33610	N	0.004728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1819	5.6088	0.17394	0.0943:0.0:0.5587:0.347	.	.	.	.	X	341;347	.	ENSP00000330098:R347X	R	-	1	2	FBXL6	145550954	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.305000	0.19254	0.092000	0.17331	0.563000	0.77884	CGA	FBXL6	-	NULL	ENSG00000182325		0.647	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL6	HGNC	protein_coding	OTTHUMT00000382413.1	35	0.00	0	G	NM_024555		145580146	145580146	-1	no_errors	ENST00000331890	ensembl	human	known	69_37n	nonsense	19	48.72	19	SNP	0.003	A
FBXL7	23194	genome.wustl.edu	37	5	15936680	15936680	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:15936680C>T	ENST00000504595.1	+	4	1342	c.861C>T	c.(859-861)gaC>gaT	p.D287D	FBXL7_ENST00000329673.7_Silent_p.D275D|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Silent_p.D240D	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	287					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGCTGGAGGACGAAGGCCTGC	0.622																																						dbGAP											0													69.0	71.0	70.0					5																	15936680		2193	4291	6484	-	-	-	SO:0001819	synonymous_variant	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.861C>T	5.37:g.15936680C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGF1|D6RDY7|O94926	Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.D287	ENST00000504595.1	37	c.861	CCDS54833.1	5																																																																																			FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.622	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	99	1.00	1	C	NM_012304		15936680	15936680	+1	no_errors	ENST00000504595	ensembl	human	known	69_37n	silent	50	45.16	42	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40399610	40399610	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:40399610A>G	ENST00000221347.6	-	13	6092	c.6085T>C	c.(6085-6087)Tcc>Ccc	p.S2029P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2029						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)			CACCACTGGGAGCAGGTGCCA	0.662																																						dbGAP											0													1.0	1.0	1.0					19																	40399610		354	901	1255	-	-	-	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.6085T>C	19.37:g.40399610A>G	ENSP00000221347:p.Ser2029Pro	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.S2029P	ENST00000221347.6	37	c.6085	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	A	5.572	0.290422	0.10567	.	.	ENSG00000090920	ENST00000221347	T	0.05996	3.36	3.01	1.88	0.25563	.	.	.	.	.	T	0.14141	0.0342	M	0.70595	2.14	0.09310	N	0.999994	D	0.65815	0.995	P	0.60949	0.881	T	0.20075	-1.0286	9	0.26408	T	0.33	.	2.7219	0.05203	0.5006:0.0:0.1264:0.3729	.	2029	Q9Y6R7	FCGBP_HUMAN	P	2029	ENSP00000221347:S2029P	ENSP00000221347:S2029P	S	-	1	0	FCGBP	45091450	0.002000	0.14202	0.995000	0.50966	0.466000	0.32739	-0.033000	0.12246	1.258000	0.44101	0.248000	0.18094	TCC	FCGBP	-	smart_VWC_out	ENSG00000090920		0.662	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	10	0.00	0	A	NM_003890		40399610	40399610	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	4	71.43	10	SNP	0.072	G
FCGR1A	2209	genome.wustl.edu	37	1	149761830	149761830	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:149761830C>T	ENST00000369168.4	+	5	834	c.780C>T	c.(778-780)tgC>tgT	p.C260C	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	260	Ig-like C2-type 3.				antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TATACTGGTGCGAGGCTGCCA	0.517																																						dbGAP											0													1.0	2.0	2.0					1																	149761830		1207	2887	4094	-	-	-	SO:0001819	synonymous_variant	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.780C>T	1.37:g.149761830C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P12315|Q5QNW7|Q92495|Q92663	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C260	ENST00000369168.4	37	c.780	CCDS933.1	1																																																																																			FCGR1A	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000150337		0.517	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	102	0.00	0	C	NM_000566		149761830	149761830	+1	no_errors	ENST00000369168	ensembl	human	known	69_37n	silent	169	15.08	30	SNP	0.754	T
FCGR1A	2209	genome.wustl.edu	37	1	149762831	149762831	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:149762831T>C	ENST00000369168.4	+	6	937	c.883T>C	c.(883-885)Ttc>Ctc	p.F295L	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	295					antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCATGTCCTTTTCTATCTGGC	0.398																																						dbGAP											0													4.0	4.0	4.0					1																	149762831		1048	2379	3427	-	-	-	SO:0001583	missense	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.883T>C	1.37:g.149762831T>C	ENSP00000358165:p.Phe295Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F295L	ENST00000369168.4	37	c.883	CCDS933.1	1	.	.	.	.	.	.	.	.	.	.	T	6.542	0.468197	0.12461	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.03272	4.35;3.99	4.13	2.98	0.34508	.	1.113020	0.07111	N	0.842206	T	0.01800	0.0057	M	0.64997	1.995	0.09310	N	0.999994	P	0.40083	0.702	B	0.34418	0.182	T	0.48080	-0.9066	10	0.46703	T	0.11	.	7.9327	0.29912	0.0:0.0:0.2289:0.7711	.	295	P12314	FCGR1_HUMAN	L	203;295	ENSP00000394279:F203L;ENSP00000358165:F295L	ENSP00000358165:F295L	F	+	1	0	FCGR1A	148029455	0.480000	0.25933	0.006000	0.13384	0.011000	0.07611	0.646000	0.24797	0.688000	0.31529	0.443000	0.29094	TTC	FCGR1A	-	NULL	ENSG00000150337		0.398	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGR1A	HGNC	protein_coding	OTTHUMT00000033446.1	226	0.44	1	T	NM_000566		149762831	149762831	+1	no_errors	ENST00000369168	ensembl	human	known	69_37n	missense	449	15.41	82	SNP	0.093	C
FCGRT	2217	genome.wustl.edu	37	19	50017386	50017386	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:50017386delA	ENST00000221466.5	+	3	807	c.321delA	c.(319-321)ggafs	p.G107fs	FCGRT_ENST00000596975.1_Frame_Shift_Del_p.G107fs|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Frame_Shift_Del_p.G107fs	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	107	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)	p.G107G(1)		endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTTTGGGGGGAAAAGGTGAGA	0.587																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											26.0	30.0	28.0					19																	50017386		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.321delA	19.37:g.50017386delA	ENSP00000221466:p.Gly107fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYM5|Q9HBV7|Q9NZ19	Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.G109fs	ENST00000221466.5	37	c.321	CCDS12770.1	19																																																																																			FCGRT	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000104870		0.587	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	70	0.00	0	A			50017386	50017386	+1	no_errors	ENST00000221466	ensembl	human	known	69_37n	frame_shift_del	43	36.23	25	DEL	0.000	-
FCHSD1	89848	genome.wustl.edu	37	5	141019879	141019879	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:141019879G>A	ENST00000435817.2	-	0	3309				RELL2_ENST00000518025.1_Intron|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000297164.3_Intron|RELL2_ENST00000518856.1_Intron|RELL2_ENST00000444782.1_Intron|RELL2_ENST00000521367.1_Intron	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1										FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACAGCCGGGACTGCACT	0.592																																						dbGAP											0													82.0	85.0	84.0					5																	141019879		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.*1186C>T	5.37:g.141019879G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	RNA	SNP	-	NULL	ENST00000435817.2	37	NULL	CCDS47295.1	5																																																																																			FCHSD1	-	-	ENSG00000197948		0.592	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	218	0.00	0	G	NM_033449		141019879	141019879	-1	no_errors	ENST00000523856	ensembl	human	known	69_37n	rna	111	47.42	101	SNP	0.001	A
FCRL2	79368	genome.wustl.edu	37	1	157737074	157737074	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:157737074G>A	ENST00000361516.3	-	6	1157	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.A117V|FCRL2_ENST00000392274.3_Missense_Mutation_p.A370V	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	370	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCGTTGTTGGCCTCACAGGA	0.572																																						dbGAP											0													67.0	71.0	69.0					1																	157737074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1109C>T	1.37:g.157737074G>A	ENSP00000355157:p.Ala370Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A370V	ENST00000361516.3	37	c.1109	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206745	0.58343	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.05081	3.5;3.5;3.5	3.99	3.99	0.46301	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.152911	0.30101	N	0.010407	T	0.17916	0.0430	M	0.90145	3.09	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.988;0.985	T	0.03852	-1.0998	10	0.45353	T	0.12	.	11.7707	0.51956	0.0:0.0:1.0:0.0	.	370;370;117	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	V	370;370;117	ENSP00000355157:A370V;ENSP00000376100:A370V;ENSP00000417393:A117V	ENSP00000355157:A370V	A	-	2	0	FCRL2	156003698	0.113000	0.22115	0.082000	0.20525	0.634000	0.38068	2.815000	0.48018	2.203000	0.70933	0.591000	0.81541	GCC	FCRL2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000132704		0.572	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	94	0.00	0	G	NM_030764		157737074	157737074	-1	no_errors	ENST00000361516	ensembl	human	known	69_37n	missense	191	18.38	43	SNP	0.079	A
FCRL5	83416	genome.wustl.edu	37	1	157490960	157490961	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:157490960_157490961insA	ENST00000361835.3	-	11	2518_2519	c.2361_2362insT	c.(2359-2364)tttcatfs	p.H788fs	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Frame_Shift_Ins_p.H788fs	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	788	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.F787F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGAAAAAACCGGT	0.589																																						dbGAP											1	Substitution - coding silent(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2362dupT	1.37:g.157490966_157490966dupA	ENSP00000354691:p.His788fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Frame_Shift_Ins	INS	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.H787fs	ENST00000361835.3	37	c.2362_2361	CCDS1165.1	1																																																																																			FCRL5	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143297		0.589	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	66	0.00	0	-	NM_031281		157490960	157490961	-1	no_errors	ENST00000356953	ensembl	human	known	69_37n	frame_shift_ins	137	13.29	21	INS	0.064:0.076	A
FCRL2	79368	genome.wustl.edu	37	1	157738283	157738283	+	Silent	SNP	A	A	G	rs573003891		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:157738283A>G	ENST00000361516.3	-	5	852	c.804T>C	c.(802-804)agT>agC	p.S268S	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Silent_p.S268S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	268	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGCCGGCATCACTCTCTTTCA	0.502													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20482	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													194.0	191.0	192.0					1																	157738283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.804T>C	1.37:g.157738283A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S268	ENST00000361516.3	37	c.804	CCDS1168.1	1																																																																																			FCRL2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000132704		0.502	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	386	0.77	3	A	NM_030764		157738283	157738283	-1	no_errors	ENST00000361516	ensembl	human	known	69_37n	silent	800	13.34	125	SNP	0.001	G
FEM1C	56929	genome.wustl.edu	37	5	114860367	114860367	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:114860367C>A	ENST00000274457.3	-	3	2053	c.1492G>T	c.(1492-1494)Ggg>Tgg	p.G498W		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	498					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GGGTACCGCCCTACACATGTA	0.433																																						dbGAP											0													173.0	165.0	167.0					5																	114860367		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1492G>T	5.37:g.114860367C>A	ENSP00000274457:p.Gly498Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G498W	ENST00000274457.3	37	c.1492	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808138	0.70797	.	.	ENSG00000145780	ENST00000274457	T	0.69435	-0.4	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85034	0.0919	10	0.66056	D	0.02	-16.4442	19.502	0.95098	0.0:1.0:0.0:0.0	.	498	Q96JP0	FEM1C_HUMAN	W	498	ENSP00000274457:G498W	ENSP00000274457:G498W	G	-	1	0	FEM1C	114888266	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.772000	0.85439	2.602000	0.87976	0.655000	0.94253	GGG	FEM1C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145780		0.433	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3	289	0.00	0	C	NM_020177		114860367	114860367	-1	no_errors	ENST00000274457	ensembl	human	known	69_37n	missense	201	39.46	131	SNP	1.000	A
FER1L6	654463	genome.wustl.edu	37	8	125029876	125029876	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:125029876T>C	ENST00000522917.1	+	16	2137	c.1931T>C	c.(1930-1932)aTc>aCc	p.I644T	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.I644T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	644						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGTGCCTTTATCTCTGAAGCA	0.348																																						dbGAP											0													80.0	77.0	78.0					8																	125029876		1806	4063	5869	-	-	-	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1931T>C	8.37:g.125029876T>C	ENSP00000428280:p.Ile644Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I644T	ENST00000522917.1	37	c.1931	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286476	0.40494	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82081	-1.57;-1.57	5.38	5.38	0.77491	.	0.533387	0.17099	U	0.187078	T	0.77329	0.4114	L	0.40543	1.245	0.46823	D	0.999211	B	0.26547	0.152	B	0.17979	0.02	T	0.74699	-0.3577	10	0.51188	T	0.08	-11.1742	14.6739	0.68964	0.0:0.0:0.0:1.0	.	644	Q2WGJ9	FR1L6_HUMAN	T	644	ENSP00000428280:I644T;ENSP00000381982:I644T	ENSP00000381982:I644T	I	+	2	0	FER1L6	125099057	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.343000	0.72986	2.160000	0.67779	0.533000	0.62120	ATC	FER1L6	-	NULL	ENSG00000214814		0.348	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	154	0.00	0	T	NM_001039112		125029876	125029876	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	missense	113	36.87	66	SNP	1.000	C
FES	2242	genome.wustl.edu	37	15	91436997	91436997	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:91436997G>T	ENST00000328850.3	+	17	2301	c.2159G>T	c.(2158-2160)aGa>aTa	p.R720I	FES_ENST00000394300.3_Missense_Mutation_p.R662I|FES_ENST00000394302.1_Missense_Mutation_p.R579I|FES_ENST00000414248.2_Missense_Mutation_p.R592I|FES_ENST00000444422.2_Missense_Mutation_p.R650I|FES_ENST00000450438.2_Missense_Mutation_p.R592I	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	720	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGGGCCTCAGACAAGTCCCC	0.597																																						dbGAP											0													65.0	73.0	70.0					15																	91436997		2198	4298	6496	-	-	-	SO:0001583	missense	0			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.2159G>T	15.37:g.91436997G>T	ENSP00000331504:p.Arg720Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_FCH,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH,pfscan_SH2,pfscan_Prot_kinase_cat_dom	p.R720I	ENST00000328850.3	37	c.2159	CCDS10365.1	15	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360059	0.61403	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.46	5.46	0.80206	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.103999	0.64402	D	0.000001	T	0.60818	0.2298	L	0.52364	1.645	0.80722	D	1	D;P;D;D;P;D	0.64830	0.984;0.894;0.994;0.98;0.894;0.984	P;B;P;P;B;P	0.55087	0.686;0.401;0.768;0.558;0.401;0.686	T	0.64512	-0.6390	10	0.87932	D	0	-16.6151	7.1547	0.25630	0.2058:0.0:0.7942:0.0	.	702;592;579;662;650;720	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	I	720;592;579;650;662;592	ENSP00000331504:R720I;ENSP00000414629:R592I;ENSP00000377839:R579I;ENSP00000400868:R650I;ENSP00000377837:R662I;ENSP00000409915:R592I	ENSP00000331504:R720I	R	+	2	0	FES	89238001	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.233000	0.65337	2.592000	0.87571	0.555000	0.69702	AGA	FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000182511		0.597	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	37	0.00	0	G	NM_002005		91436997	91436997	+1	no_errors	ENST00000328850	ensembl	human	known	69_37n	missense	19	53.66	22	SNP	1.000	T
FEZF1	389549	genome.wustl.edu	37	7	121942133	121942133	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:121942133G>A	ENST00000442488.2	-	4	1413	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P445L|FEZF1_ENST00000427185.2_Missense_Mutation_p.P399L|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	449	Pro-rich.				axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						cgtcatcggcggctgctgcgg	0.716																																						dbGAP											0													16.0	20.0	18.0					7																	121942133		2093	4154	6247	-	-	-	SO:0001583	missense	0			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1346C>T	7.37:g.121942133G>A	ENSP00000411145:p.Pro449Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P449L	ENST00000442488.2	37	c.1346	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	G	4.228	0.041281	0.08196	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08370	3.1;3.24;3.13	5.0	2.22	0.28083	.	0.603585	0.15265	N	0.271541	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44345	-0.9334	10	0.23302	T	0.38	-2.5722	3.3715	0.07223	0.3148:0.0:0.5089:0.1764	.	449;399	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	L	449;445;399	ENSP00000411145:P449L;ENSP00000332777:P445L;ENSP00000392727:P399L	ENSP00000332777:P445L	P	-	2	0	FEZF1	121729369	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	0.477000	0.22196	0.301000	0.22738	-0.369000	0.07265	CCG	FEZF1	-	NULL	ENSG00000128610		0.716	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	44	0.00	0	G	NM_001024613		121942133	121942133	-1	no_errors	ENST00000442488	ensembl	human	known	69_37n	missense	29	35.56	16	SNP	0.000	A
FGD1	2245	genome.wustl.edu	37	X	54472832	54472832	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:54472832G>A	ENST00000375135.3	-	18	3329	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	866	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCAGGCTGCGCTGGGCTTTC	0.632																																						dbGAP											0													24.0	21.0	22.0					X																	54472832		2202	4300	6502	-	-	-	SO:0001583	missense	0			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2596C>T	X.37:g.54472832G>A	ENSP00000364277:p.Arg866Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H999|Q8N4D9	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R866C	ENST00000375135.3	37	c.2596	CCDS14359.1	X	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812387	0.50527	.	.	ENSG00000102302	ENST00000375135	T	0.12465	2.68	5.79	5.79	0.91817	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	D	0.000046	T	0.15825	0.0381	L	0.44542	1.39	0.58432	D	0.999998	B	0.25521	0.128	B	0.26517	0.07	T	0.02539	-1.1144	10	0.36615	T	0.2	-15.4332	17.6058	0.88037	0.0:0.0:1.0:0.0	.	866	P98174	FGD1_HUMAN	C	866	ENSP00000364277:R866C	ENSP00000364277:R866C	R	-	1	0	FGD1	54489557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.561000	0.67339	2.429000	0.82318	0.513000	0.50165	CGC	FGD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000102302		0.632	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	77	0.00	0	G	NM_004463		54472832	54472832	-1	no_errors	ENST00000375135	ensembl	human	known	69_37n	missense	45	41.77	33	SNP	1.000	A
FGD4	121512	genome.wustl.edu	37	12	32761022	32761022	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:32761022T>C	ENST00000427716.2	+	8	1549	c.1125T>C	c.(1123-1125)gaT>gaC	p.D375D	FGD4_ENST00000546442.1_Silent_p.D282D|FGD4_ENST00000266482.3_Silent_p.D127D|FGD4_ENST00000534526.2_Silent_p.D512D|FGD4_ENST00000381025.3_Silent_p.D127D|FGD4_ENST00000525053.1_Silent_p.D487D|FGD4_ENST00000531134.1_Silent_p.D460D	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	375	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACTGGAATGATGCTAAAAGTA	0.413																																						dbGAP											0													145.0	145.0	145.0					12																	32761022		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1125T>C	12.37:g.32761022T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ULS2|Q8TCP6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.D375	ENST00000427716.2	37	c.1125	CCDS8727.1	12																																																																																			FGD4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000139132		0.413	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	222	0.00	0	T	NM_139241		32761022	32761022	+1	no_errors	ENST00000427716	ensembl	human	known	69_37n	silent	125	47.03	111	SNP	0.994	C
FGD5	152273	genome.wustl.edu	37	3	14862972	14862972	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:14862972C>T	ENST00000285046.5	+	1	2504	c.2394C>T	c.(2392-2394)ggC>ggT	p.G798G	FGD5_ENST00000543601.1_Silent_p.G557G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	798					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCAGGGCTGGCGCGTTCACGA	0.532																																						dbGAP											0													97.0	102.0	100.0					3																	14862972		2057	4217	6274	-	-	-	SO:0001819	synonymous_variant	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2394C>T	3.37:g.14862972C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain	p.R12C	ENST00000285046.5	37	c.34	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	C	2.484	-0.318890	0.05386	.	.	ENSG00000154783	ENST00000457774	.	.	.	5.03	0.582	0.17412	.	.	.	.	.	T	0.43322	0.1242	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24297	-1.0164	4	.	.	.	-30.9394	2.6891	0.05116	0.2231:0.5177:0.1373:0.1219	.	.	.	.	C	12	.	.	R	+	1	0	FGD5	14837976	0.998000	0.40836	0.242000	0.24170	0.348000	0.29142	0.594000	0.24014	0.248000	0.21435	-0.216000	0.12614	CGC	FGD5	-	NULL	ENSG00000154783		0.532	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	105	0.00	0	C	NM_152536		14862972	14862972	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000457774	ensembl	human	putative	69_37n	missense	62	33.33	31	SNP	1.000	T
FGF6	2251	genome.wustl.edu	37	12	4554553	4554553	+	Missense_Mutation	SNP	G	G	A	rs562208785	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:4554553G>A	ENST00000228837.2	-	1	227	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	62					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGCCCGGCGCGAGACCTGGAC	0.652																																						dbGAP											0													85.0	81.0	82.0					12																	4554553		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.184C>T	12.37:g.4554553G>A	ENSP00000228837:p.Arg62Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAE1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.R62C	ENST00000228837.2	37	c.184	CCDS8527.1	12	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053516	0.19907	.	.	ENSG00000111241	ENST00000228837	T	0.25912	1.77	5.0	3.03	0.35002	.	0.326987	0.32231	N	0.006393	T	0.11324	0.0276	N	0.08118	0	0.43179	D	0.994994	B	0.02656	0.0	B	0.04013	0.001	T	0.08764	-1.0706	10	0.36615	T	0.2	.	6.3175	0.21199	0.077:0.122:0.6609:0.1401	.	62	P10767	FGF6_HUMAN	C	62	ENSP00000228837:R62C	ENSP00000228837:R62C	R	-	1	0	FGF6	4424814	0.995000	0.38212	0.876000	0.34364	0.462000	0.32619	2.071000	0.41500	1.245000	0.43885	0.561000	0.74099	CGC	FGF6	-	superfamily_Cytokine_IL1-like	ENSG00000111241		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF6	HGNC	protein_coding	OTTHUMT00000398939.1	87	0.00	0	G	NM_020996		4554553	4554553	-1	no_errors	ENST00000228837	ensembl	human	known	69_37n	missense	43	38.03	27	SNP	0.990	A
FGF8	2253	genome.wustl.edu	37	10	103530145	103530145	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:103530145G>A	ENST00000344255.3	-	6	642	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	FGF8_ENST00000347978.2_Missense_Mutation_p.P197S|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.P186S|FGF8_ENST00000320185.2_Missense_Mutation_p.P226S			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	215					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GTGAAGGGCGGGTAGTTGAGG	0.687																																						dbGAP											0													20.0	28.0	25.0					10																	103530145		2199	4297	6496	-	-	-	SO:0001583	missense	0			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.643C>T	10.37:g.103530145G>A	ENSP00000340039:p.Pro215Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A514|Q14915|Q15766	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.P226S	ENST00000344255.3	37	c.676	CCDS7517.1	10	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648016	0.67358	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;T;T;T	0.81659	-1.52;-1.38;-1.45;-1.26	3.79	3.79	0.43588	.	0.063724	0.64402	D	0.000005	T	0.78117	0.4233	L	0.39147	1.195	0.58432	D	0.999998	B;B;P;P	0.41710	0.235;0.383;0.754;0.76	B;B;P;B	0.45794	0.142;0.09;0.493;0.443	T	0.78735	-0.2088	10	0.40728	T	0.16	.	15.6748	0.77307	0.0:0.0:1.0:0.0	.	186;197;226;215	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	S	215;226;186;197	ENSP00000340039:P215S;ENSP00000321797:P226S;ENSP00000344306:P186S;ENSP00000321945:P197S	ENSP00000321797:P226S	P	-	1	0	FGF8	103520135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	1.679000	0.50963	0.455000	0.32223	CCG	FGF8	-	NULL	ENSG00000107831		0.687	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	56	0.00	0	G	NM_006119, NM_033165		103530145	103530145	-1	no_errors	ENST00000320185	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	A
FGF8	2253	genome.wustl.edu	37	10	103534553	103534553	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:103534553C>T	ENST00000344255.3	-	4	239	c.240G>A	c.(238-240)ggG>ggA	p.G80G	FGF8_ENST00000347978.2_Silent_p.G62G|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.G51G|FGF8_ENST00000320185.2_Silent_p.G91G			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	80					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCACGTGCTTCCCGCTGGTGC	0.622																																						dbGAP											0													81.0	75.0	77.0					10																	103534553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.240G>A	10.37:g.103534553C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A514|Q14915|Q15766	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.G91	ENST00000344255.3	37	c.273	CCDS7517.1	10																																																																																			FGF8	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000107831		0.622	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	178	0.00	0	C	NM_006119, NM_033165		103534553	103534553	-1	no_errors	ENST00000320185	ensembl	human	known	69_37n	silent	108	42.93	82	SNP	1.000	T
FGG	2266	genome.wustl.edu	37	4	155533684	155533684	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:155533684T>C	ENST00000336098.3	-	1	116	c.78A>G	c.(76-78)gcA>gcG	p.A26A	FGG_ENST00000407946.1_Splice_Site_p.A26A|FGG_ENST00000404648.3_Splice_Site_p.A26A|FGG_ENST00000405164.1_Splice_Site_p.A26A	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	26					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCACACTTACTGCTACACATG	0.368																																						dbGAP											0													93.0	100.0	98.0					4																	155533684		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.78+1A>G	4.37:g.155533684T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.A26	ENST00000336098.3	37	c.78	CCDS3788.1	4																																																																																			FGG	-	NULL	ENSG00000171557		0.368	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	196	0.00	0	T	NM_021870	Silent	155533684	155533684	-1	no_errors	ENST00000336098	ensembl	human	known	69_37n	silent	139	34.43	73	SNP	0.994	C
FICD	11153	genome.wustl.edu	37	12	108913234	108913234	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:108913234G>A	ENST00000552695.1	+	3	1594	c.1359G>A	c.(1357-1359)acG>acA	p.T453T	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	453					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TCAAGGAGACGCTTCCTGTGA	0.493																																						dbGAP											0													44.0	37.0	40.0					12																	108913234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1359G>A	12.37:g.108913234G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75406	Silent	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T453	ENST00000552695.1	37	c.1359	CCDS9116.1	12																																																																																			FICD	-	NULL	ENSG00000198855		0.493	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	59	0.00	0	G	NM_007076		108913234	108913234	+1	no_errors	ENST00000552695	ensembl	human	known	69_37n	silent	42	41.10	30	SNP	0.078	A
FILIP1L	11259	genome.wustl.edu	37	3	99567225	99567225	+	Missense_Mutation	SNP	C	C	T	rs79681183		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:99567225C>T	ENST00000354552.3	-	5	3765	c.3295G>A	c.(3295-3297)Gca>Aca	p.A1099T	FILIP1L_ENST00000487087.1_Missense_Mutation_p.A675T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A859T|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.A1099T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A859T	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1099						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGTTTAGTGCCCCGTTAATT	0.448																																						dbGAP											0													343.0	336.0	338.0					3																	99567225		2016	4182	6198	-	-	-	SO:0001583	missense	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.3295G>A	3.37:g.99567225C>T	ENSP00000346560:p.Ala1099Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.A1099T	ENST00000354552.3	37	c.3295	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281952	0.01398	.	.	ENSG00000168386	ENST00000477258;ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620	T;T;T;T;T	0.21932	2.3;1.99;1.98;2.3;1.98	5.79	2.39	0.29439	.	0.404642	0.20980	N	0.082221	T	0.06234	0.0161	N	0.08118	0	0.30585	N	0.762079	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.32428	-0.9907	10	0.02654	T	1	-6.0141	0.7424	0.00976	0.395:0.2475:0.1946:0.1629	.	1099;1099	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	78;1099;675;859;1099;859;845	ENSP00000346560:A1099T;ENSP00000417774:A675T;ENSP00000419642:A859T;ENSP00000327880:A1099T;ENSP00000373192:A859T	ENSP00000327880:A1099T	A	-	1	0	FILIP1L	101049915	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.812000	0.27211	1.439000	0.47511	-0.182000	0.12963	GCA	FILIP1L	-	NULL	ENSG00000168386		0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	900	0.22	2	C	NM_014890		99567225	99567225	-1	no_errors	ENST00000354552	ensembl	human	known	69_37n	missense	543	37.40	325	SNP	0.987	T
FLAD1	80308	genome.wustl.edu	37	1	154961214	154961214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154961214G>T	ENST00000292180.3	+	2	1328	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	FLAD1_ENST00000315144.10_Nonsense_Mutation_p.E239*|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368433.1_Nonsense_Mutation_p.E336*|FLAD1_ENST00000405236.2_Nonsense_Mutation_p.E237*|FLAD1_ENST00000368431.3_Nonsense_Mutation_p.E237*|FLAD1_ENST00000295530.2_Nonsense_Mutation_p.E69*|FLAD1_ENST00000368432.1_Nonsense_Mutation_p.E239*	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	336					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGACCCCTGGAGGAATGCTT	0.577																																						dbGAP											0													61.0	61.0	61.0					1																	154961214		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1006G>T	1.37:g.154961214G>T	ENSP00000292180:p.Glu336*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Nonsense_Mutation	SNP	pfam_Mopterin-bd,pfam_PAPS_reduct,superfamily_Mopterin-bd,smart_Mopterin-bd,pirsf_FAD_synth_Mopterin-bd	p.E336*	ENST00000292180.3	37	c.1006	CCDS1078.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.197627	0.94997	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	.	.	.	5.51	5.51	0.81932	.	0.098980	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-18.9615	19.2219	0.93801	0.0:0.0:1.0:0.0	.	.	.	.	X	336;239;239;237;336;237;69	.	ENSP00000292180:E336X	E	+	1	0	FLAD1	153227838	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	6.887000	0.75616	2.873000	0.98535	0.561000	0.74099	GAG	FLAD1	-	pirsf_FAD_synth_Mopterin-bd	ENSG00000160688		0.577	FLAD1-001	NOVEL	basic|CCDS	protein_coding	FLAD1	HGNC	protein_coding	OTTHUMT00000091089.1	52	0.00	0	G	NM_025207		154961214	154961214	+1	no_errors	ENST00000292180	ensembl	human	known	69_37n	nonsense	85	26.72	31	SNP	1.000	T
TAPT1-AS1	202020	genome.wustl.edu	37	4	16258136	16258136	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:16258136G>A	ENST00000570786.1	+	0	491				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		GAGCATTTCCGCGGAACTTAC	0.602																																						dbGAP											0																																										-	-	-			0					4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258136G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000570786.1	37	NULL		4																																																																																			RP11-783N5.1	-	-	ENSG00000263327		0.602	TAPT1-AS1-002	KNOWN	basic	antisense	FLJ39653	Clone_based_vega_gene	antisense	OTTHUMT00000439459.1	44	0.00	0	G	NR_027696		16258136	16258136	+1	no_errors	ENST00000570786	ensembl	human	known	69_37n	rna	23	45.24	19	SNP	0.246	A
LOC400867	400867	genome.wustl.edu	37	21	40250690	40250690	+	lincRNA	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:40250690A>G	ENST00000380931.2	-	0	2347																											AAATTGAGGGATCTGGGCAAA	0.393																																						dbGAP											0													155.0	152.0	153.0					21																	40250690		1876	4096	5972	-	-	-			0																															21.37:g.40250690A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000380931.2	37	NULL		21																																																																																			AF064858.6	-	-	ENSG00000205622		0.393	AF064858.6-001	KNOWN	basic	lincRNA	FLJ45139	Clone_based_vega_gene	lincRNA	OTTHUMT00000141410.2	223	0.00	0	A			40250690	40250690	-1	no_errors	ENST00000380931	ensembl	human	known	69_37n	rna	193	36.51	111	SNP	0.001	G
FMN1	342184	genome.wustl.edu	37	15	33359244	33359244	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:33359244C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.R281H|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.R281H			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTTCAGCACACGAAGCCCACT	0.478																																						dbGAP											0													57.0	59.0	58.0					15																	33359244		1901	4136	6037	-	-	-	SO:0001627	intron_variant	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1969G>A	15.37:g.33359244C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.R281H	ENST00000559047.1	37	c.842		15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959403	0.74016	.	.	ENSG00000248905	ENST00000334528	T	0.69040	-0.37	5.59	5.59	0.84812	.	.	.	.	.	D	0.83631	0.5296	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84925	0.0856	7	0.66056	D	0.02	.	19.6034	0.95572	0.0:1.0:0.0:0.0	.	281;281	Q68DA7-3;Q68DA7-5	.;.	H	281	ENSP00000333950:R281H	ENSP00000333950:R281H	R	-	2	0	FMN1	31146536	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.262000	0.65501	2.645000	0.89757	0.655000	0.94253	CGT	FMN1	-	NULL	ENSG00000248905		0.478	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	75	0.00	0	C	NM_001103184		33359244	33359244	-1	no_errors	ENST00000334528	ensembl	human	known	69_37n	missense	59	31.40	27	SNP	1.000	T
FMO2	2327	genome.wustl.edu	37	1	171173075	171173075	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:171173075A>G	ENST00000209929.7	+	6	857	c.699A>G	c.(697-699)tcA>tcG	p.S233S	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Silent_p.S233S|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	233					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGGGACTCAGTGTTCCACA	0.468																																						dbGAP											0													143.0	112.0	122.0					1																	171173075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.699A>G	1.37:g.171173075A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.S233	ENST00000209929.7	37	c.699	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like	ENSG00000094963		0.468	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	246	0.00	0	A	NM_001460		171173075	171173075	+1	no_errors	ENST00000209929	ensembl	human	known	69_37n	silent	543	12.98	81	SNP	0.002	G
FMO4	2329	genome.wustl.edu	37	1	171292176	171292176	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:171292176A>G	ENST00000367749.3	+	4	496	c.166A>G	c.(166-168)Aag>Gag	p.K56E		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	56					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGGTCTATAAGTCATTAGT	0.398																																					Pancreas(24;816 862 7754 7993 32832)	dbGAP											0													113.0	106.0	108.0					1																	171292176		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.166A>G	1.37:g.171292176A>G	ENSP00000356723:p.Lys56Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.K56E	ENST00000367749.3	37	c.166	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.260504	0.39995	.	.	ENSG00000076258	ENST00000367749	T	0.61859	0.07	5.43	3.01	0.34805	.	0.561338	0.19700	N	0.108066	T	0.25975	0.0633	L	0.28608	0.87	0.09310	N	0.999999	B	0.22211	0.066	B	0.37833	0.259	T	0.40794	-0.9544	10	0.19590	T	0.45	-3.1664	7.4556	0.27264	0.6008:0.258:0.0:0.1412	.	56	P31512	FMO4_HUMAN	E	56	ENSP00000356723:K56E	ENSP00000356723:K56E	K	+	1	0	FMO4	169558800	0.006000	0.16342	0.876000	0.34364	0.818000	0.46254	2.199000	0.42715	0.314000	0.23086	0.533000	0.62120	AAG	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000076258		0.398	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	255	0.00	0	A	NM_002022		171292176	171292176	+1	no_errors	ENST00000367749	ensembl	human	known	69_37n	missense	486	14.41	82	SNP	0.382	G
FNDC3B	64778	genome.wustl.edu	37	3	172115197	172115197	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:172115197A>G	ENST00000336824.4	+	26	3646	c.3547A>G	c.(3547-3549)Att>Gtt	p.I1183V	FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1183V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1183V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1183					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TGCAGCCATCATTGTGCTTGG	0.388																																						dbGAP											0													190.0	163.0	172.0					3																	172115197		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3547A>G	3.37:g.172115197A>G	ENSP00000338523:p.Ile1183Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I1183V	ENST00000336824.4	37	c.3547	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	A	9.690	1.151725	0.21371	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.25250	1.81;1.81;1.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.48986	1.54	0.80722	D	1	B	0.29188	0.236	B	0.28553	0.091	T	0.03423	-1.1038	10	0.48119	T	0.1	-19.349	12.5832	0.56401	0.8616:0.1384:0.0:0.0	.	1183	Q53EP0	FND3B_HUMAN	V	1183	ENSP00000411242:I1183V;ENSP00000338523:I1183V;ENSP00000389094:I1183V	ENSP00000338523:I1183V	I	+	1	0	FNDC3B	173597891	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.661000	0.54503	2.206000	0.71126	0.383000	0.25322	ATT	FNDC3B	-	NULL	ENSG00000075420		0.388	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	318	0.00	0	A	NM_022763		172115197	172115197	+1	no_errors	ENST00000336824	ensembl	human	known	69_37n	missense	240	38.62	151	SNP	1.000	G
FOCAD	54914	genome.wustl.edu	37	9	20789382	20789382	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:20789382T>C	ENST00000380249.1	+	13	1594	c.1230T>C	c.(1228-1230)agT>agC	p.S410S	FOCAD_ENST00000338382.6_Silent_p.S410S|SNORA30_ENST00000365319.1_RNA	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	410						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTGTAACCAGTATGTATGGTA	0.393																																						dbGAP											0													171.0	158.0	162.0					9																	20789382		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1230T>C	9.37:g.20789382T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.S410	ENST00000380249.1	37	c.1230	CCDS34993.1	9																																																																																			FOCAD	-	NULL	ENSG00000188352		0.393	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	475	0.00	0	T	NM_017794		20789382	20789382	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	silent	313	35.60	173	SNP	0.989	C
FOCAD	54914	genome.wustl.edu	37	9	20982378	20982378	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:20982378T>A	ENST00000380249.1	+	41	5025	c.4661T>A	c.(4660-4662)aTc>aAc	p.I1554N	FOCAD_ENST00000338382.6_Missense_Mutation_p.I1554N|FOCAD_ENST00000605086.1_Missense_Mutation_p.I990N	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1554						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGCTGTATATCAGCATAGCA	0.333																																						dbGAP											0													113.0	119.0	117.0					9																	20982378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4661T>A	9.37:g.20982378T>A	ENSP00000369599:p.Ile1554Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.I1554N	ENST00000380249.1	37	c.4661	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665533	0.67700	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.25579	1.79;1.79	5.83	5.83	0.93111	.	0.121291	0.56097	D	0.000040	T	0.37293	0.0998	L	0.44542	1.39	0.35727	D	0.81759	P	0.48589	0.912	P	0.54629	0.757	T	0.44283	-0.9338	10	0.51188	T	0.08	-11.6747	14.7736	0.69699	0.0:0.0:0.0:1.0	.	1554	Q5VW36	K1797_HUMAN	N	1554	ENSP00000369599:I1554N;ENSP00000344307:I1554N	ENSP00000344307:I1554N	I	+	2	0	KIAA1797	20972378	0.960000	0.32886	0.785000	0.31869	0.394000	0.30568	4.238000	0.58688	2.231000	0.72958	0.459000	0.35465	ATC	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.333	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	293	0.00	0	T	NM_017794		20982378	20982378	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	missense	212	35.45	117	SNP	0.948	A
FOXRED1	55572	genome.wustl.edu	37	11	126145284	126145284	+	Nonsense_Mutation	SNP	C	C	T	rs267606829		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:126145284C>T	ENST00000263578.5	+	6	768	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	FOXRED1_ENST00000442061.2_Nonsense_Mutation_p.Q62*|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Nonsense_Mutation_p.Q218*	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	232						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GCGAAAGGTCCAGTCCTTGGG	0.532																																						dbGAP											0													108.0	98.0	101.0					11																	126145284		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.694C>T	11.37:g.126145284C>T	ENSP00000263578:p.Gln232*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Nonsense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.Q232*	ENST00000263578.5	37	c.694	CCDS8471.1	11	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102461	0.37145	.	.	ENSG00000110074	ENST00000263578;ENST00000442061;ENST00000532125	.	.	.	5.77	2.93	0.34026	.	0.739611	0.13473	N	0.385275	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6464	5.9556	0.19271	0.2868:0.5381:0.1079:0.0673	.	.	.	.	X	232;62;218	.	ENSP00000263578:Q232X	Q	+	1	0	FOXRED1	125650494	0.536000	0.26378	0.485000	0.27403	0.004000	0.04260	1.156000	0.31712	0.731000	0.32448	-1.922000	0.00515	CAG	FOXRED1	-	pfam_FAD-dep_OxRdtase	ENSG00000110074		0.532	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1	320	0.00	0	C	NM_017547		126145284	126145284	+1	no_errors	ENST00000263578	ensembl	human	known	69_37n	nonsense	219	40.00	146	SNP	0.507	T
FRAS1	80144	genome.wustl.edu	37	4	79238583	79238583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:79238583delC	ENST00000325942.6	+	17	2321	c.1881delC	c.(1879-1881)agcfs	p.S627fs	FRAS1_ENST00000264899.6_Frame_Shift_Del_p.S627fs|FRAS1_ENST00000264895.6_Frame_Shift_Del_p.S627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCTGCAGCCCCCCCAAGG	0.572																																						dbGAP											0													84.0	89.0	88.0					4																	79238583		2026	4193	6219	-	-	-	SO:0001589	frameshift_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1881delC	4.37:g.79238583delC	ENSP00000326330:p.Ser627fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.K630fs	ENST00000325942.6	37	c.1881	CCDS54772.1	4																																																																																			FRAS1	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat	ENSG00000138759		0.572	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	269	0.37	1	C			79238583	79238583	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	frame_shift_del	179	37.97	112	DEL	0.000	-
FREM1	158326	genome.wustl.edu	37	9	14784458	14784458	+	Missense_Mutation	SNP	G	G	A	rs562120622		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:14784458G>A	ENST00000380880.3	-	24	5135	c.4352C>T	c.(4351-4353)cCc>cTc	p.P1451L	FREM1_ENST00000422223.2_Missense_Mutation_p.P1451L|FREM1_ENST00000380881.4_Missense_Mutation_p.P1452L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1451					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTTGTAATGGGAACTCCAGG	0.507																																						dbGAP											0													108.0	103.0	104.0					9																	14784458		1943	4140	6083	-	-	-	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4352C>T	9.37:g.14784458G>A	ENSP00000370262:p.Pro1451Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.P1452L	ENST00000380880.3	37	c.4355	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	19.27	3.796176	0.70567	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.53640	0.61;0.61;0.61	5.53	5.53	0.82687	.	0.290177	0.39020	N	0.001494	T	0.62974	0.2472	M	0.85041	2.73	0.80722	D	1	P	0.45396	0.857	P	0.46452	0.517	T	0.67309	-0.5703	10	0.48119	T	0.1	-10.3526	19.8285	0.96626	0.0:0.0:1.0:0.0	.	1451	Q5H8C1	FREM1_HUMAN	L	1452;1451;1451	ENSP00000370263:P1452L;ENSP00000412940:P1451L;ENSP00000370262:P1451L	ENSP00000370262:P1451L	P	-	2	0	FREM1	14774458	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	4.326000	0.59241	2.758000	0.94735	0.591000	0.81541	CCC	FREM1	-	NULL	ENSG00000164946		0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	273	0.00	0	G	NM_144966		14784458	14784458	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	missense	190	41.18	133	SNP	1.000	A
FRK	2444	genome.wustl.edu	37	6	116264331	116264331	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:116264331G>A	ENST00000606080.1	-	7	1604	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	FRK_ENST00000538210.1_Silent_p.I244I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TAGATTCATAGATGTCTTCAT	0.378																																						dbGAP											0													57.0	59.0	59.0					6																	116264331		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1158C>T	6.37:g.116264331G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY49|Q13128|Q9NTR5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.I386	ENST00000606080.1	37	c.1158	CCDS5103.1	6																																																																																			FRK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000111816		0.378	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	200	0.50	1	G	NM_002031		116264331	116264331	-1	no_errors	ENST00000368626	ensembl	human	known	69_37n	silent	151	35.19	82	SNP	0.995	A
FRMD7	90167	genome.wustl.edu	37	X	131214255	131214255	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:131214255T>C	ENST00000298542.4	-	10	1120	c.945A>G	c.(943-945)aaA>aaG	p.K315K	FRMD7_ENST00000370879.1_Silent_p.K195K|FRMD7_ENST00000464296.1_Silent_p.K300K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	315					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCAGCCTCCCTTTTCTCCCAT	0.368																																						dbGAP											0													156.0	139.0	145.0					X																	131214255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.945A>G	X.37:g.131214255T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C0LLJ3|Q5JX99	Silent	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.K315	ENST00000298542.4	37	c.945	CCDS35397.1	X																																																																																			FRMD7	-	pfam_FERM-adjacent	ENSG00000165694		0.368	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	459	0.00	0	T	NM_194277		131214255	131214255	-1	no_errors	ENST00000298542	ensembl	human	known	69_37n	silent	296	41.04	206	SNP	0.880	C
FRY	10129	genome.wustl.edu	37	13	32836505	32836505	+	Missense_Mutation	SNP	G	G	C	rs201419637	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:32836505G>C	ENST00000380250.3	+	53	8168	c.7672G>C	c.(7672-7674)Gcc>Ccc	p.A2558P	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2558						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTCACCACAGCCTGTGACTC	0.448																																						dbGAP											0													82.0	83.0	82.0					13																	32836505		1948	4172	6120	-	-	-	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7672G>C	13.37:g.32836505G>C	ENSP00000369600:p.Ala2558Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A2558P	ENST00000380250.3	37	c.7672	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588292	0.28357	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.23552	1.9	5.91	2.98	0.34508	.	0.277928	0.41605	D	0.000849	T	0.15782	0.0380	L	0.38175	1.15	0.54753	D	0.999988	B;B	0.28400	0.21;0.0	B;B	0.34180	0.177;0.001	T	0.07947	-1.0746	10	0.11794	T	0.64	.	2.0064	0.03478	0.1658:0.1038:0.4515:0.2789	.	339;2558	Q8NB82;Q5TBA9	.;FRY_HUMAN	P	2558;202	ENSP00000369600:A2558P	ENSP00000369567:A202P	A	+	1	0	FRY	31734505	0.897000	0.30589	0.436000	0.26797	0.506000	0.33950	1.356000	0.34079	0.839000	0.34971	0.655000	0.94253	GCC	FRY	-	NULL	ENSG00000073910		0.448	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	241	0.00	0	G	NM_023037		32836505	32836505	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	missense	191	42.34	141	SNP	0.370	C
FSIP1	161835	genome.wustl.edu	37	15	40018911	40018911	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:40018911T>C	ENST00000350221.3	-	9	1138	c.929A>G	c.(928-930)tAt>tGt	p.Y310C		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	310										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGCAAGTTCATATCCTTTTAC	0.443																																						dbGAP											0													78.0	75.0	76.0					15																	40018911		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.929A>G	15.37:g.40018911T>C	ENSP00000280236:p.Tyr310Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X2C8|Q86Y89	Missense_Mutation	SNP	NULL	p.Y310C	ENST00000350221.3	37	c.929	CCDS10050.1	15	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825550	0.32237	.	.	ENSG00000150667	ENST00000350221	T	0.44083	0.93	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000003	T	0.61324	0.2338	M	0.74881	2.28	0.42909	D	0.994252	D	0.89917	1.0	D	0.91635	0.999	T	0.63382	-0.6650	9	.	.	.	-8.9686	10.6442	0.45610	0.0:0.0:0.0:1.0	.	310	Q8NA03	FSIP1_HUMAN	C	310	ENSP00000280236:Y310C	.	Y	-	2	0	FSIP1	37806203	0.881000	0.30235	0.862000	0.33874	0.008000	0.06430	1.771000	0.38542	2.285000	0.76669	0.533000	0.62120	TAT	FSIP1	-	NULL	ENSG00000150667		0.443	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	HGNC	protein_coding	OTTHUMT00000252118.2	298	0.00	0	T	NM_152597		40018911	40018911	-1	no_errors	ENST00000350221	ensembl	human	known	69_37n	missense	290	10.22	33	SNP	0.899	C
FSTL5	56884	genome.wustl.edu	37	4	162380399	162380399	+	Missense_Mutation	SNP	A	A	G	rs376588202		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:162380399A>G	ENST00000306100.5	-	14	2117	c.1681T>C	c.(1681-1683)Tgg>Cgg	p.W561R	FSTL5_ENST00000536695.1_Missense_Mutation_p.W560R|FSTL5_ENST00000427802.2_Missense_Mutation_p.W551R|FSTL5_ENST00000379164.4_Missense_Mutation_p.W560R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	561						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGGTACCCCAGCTTAGCACC	0.363																																						dbGAP											0													137.0	126.0	130.0					4																	162380399		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1681T>C	4.37:g.162380399A>G	ENSP00000305334:p.Trp561Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.W561R	ENST00000306100.5	37	c.1681	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	a	21.2	4.119913	0.77323	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.81802	2.56	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.991;0.959	D;D;P	0.85130	0.997;0.926;0.65	T	0.63576	-0.6606	10	0.66056	D	0.02	.	14.86	0.70372	1.0:0.0:0.0:0.0	.	551;560;561	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	561;560;551;560	ENSP00000305334:W561R;ENSP00000368462:W560R;ENSP00000389270:W551R;ENSP00000440409:W560R	ENSP00000305334:W561R	W	-	1	0	FSTL5	162599849	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.644000	0.91044	2.156000	0.67533	0.524000	0.50904	TGG	FSTL5	-	NULL	ENSG00000168843		0.363	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	346	0.00	0	A	NM_020116		162380399	162380399	-1	no_errors	ENST00000306100	ensembl	human	known	69_37n	missense	239	37.27	142	SNP	1.000	G
PSMC5	5705	genome.wustl.edu	37	17	61901579	61901579	+	5'Flank	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:61901579T>G	ENST00000310144.6	+	0	0				FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Missense_Mutation_p.D340A	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATCACCTTCATCTTCCTCTCC	0.547																																						dbGAP											0													147.0	147.0	147.0					17																	61901579		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61901579T>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.D340A	ENST00000310144.6	37	c.1019	CCDS11645.1	17	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616816	0.28801	.	.	ENSG00000108592	ENST00000427159	T	0.31510	1.49	5.29	5.29	0.74685	Ribosomal RNA methyltransferase Spb1, domain of unknown function DUF3381 (1);	0.585205	0.17894	N	0.158440	T	0.24084	0.0583	L	0.33339	1.005	0.35392	D	0.790847	B	0.24317	0.101	B	0.28385	0.089	T	0.23190	-1.0195	10	0.17832	T	0.49	-8.3804	11.5337	0.50624	0.0:0.0:0.0:1.0	.	340	Q8IY81	RRMJ3_HUMAN	A	340	ENSP00000396673:D340A	ENSP00000396673:D340A	D	-	2	0	FTSJ3	59255311	0.918000	0.31147	0.999000	0.59377	0.723000	0.41478	2.143000	0.42187	2.222000	0.72286	0.523000	0.50628	GAT	FTSJ3	-	pfam_rRNA_MeTfrase_Spb1_DUF3381	ENSG00000108592		0.547	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444404.1	381	0.00	0	T	NM_002805		61901579	61901579	-1	no_errors	ENST00000427159	ensembl	human	known	69_37n	missense	700	18.39	158	SNP	0.998	G
GAA	2548	genome.wustl.edu	37	17	78084571	78084571	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:78084571G>A	ENST00000302262.3	+	10	1702	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	GAA_ENST00000390015.3_Missense_Mutation_p.A495T	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	495					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CAACCCCACAGCCCTGGCCTG	0.652																																						dbGAP											0													116.0	101.0	106.0					17																	78084571		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1483G>A	17.37:g.78084571G>A	ENSP00000305692:p.Ala495Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.A495T	ENST00000302262.3	37	c.1483	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	g	1.376	-0.584875	0.03827	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93307	-3.2;-3.2	5.48	-7.62	0.01294	Glycoside hydrolase, superfamily (1);	0.368243	0.30667	N	0.009122	T	0.75177	0.3814	N	0.01188	-0.97	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.60702	-0.7211	10	0.02654	T	1	-8.0021	19.0222	0.92920	0.8921:0.0:0.1079:0.0	.	495	P10253	LYAG_HUMAN	T	495	ENSP00000305692:A495T;ENSP00000374665:A495T	ENSP00000305692:A495T	A	+	1	0	GAA	75699166	0.999000	0.42202	0.000000	0.03702	0.104000	0.19210	1.031000	0.30165	-1.699000	0.01416	-0.974000	0.02594	GCC	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	265	0.00	0	G			78084571	78084571	+1	no_errors	ENST00000302262	ensembl	human	known	69_37n	missense	493	15.00	87	SNP	0.007	A
GADD45G	10912	genome.wustl.edu	37	9	92220726	92220726	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:92220726G>A	ENST00000252506.6	+	3	409	c.300G>A	c.(298-300)cgG>cgA	p.R100R	GADD45G_ENST00000375769.1_Silent_p.R82R|GADD45G_ENST00000494726.1_3'UTR	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	100					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						ATGTGCAGCGGCTGGCGGCTA	0.652																																					Colon(131;320 2336 18973 23919)	dbGAP											0													35.0	30.0	32.0					9																	92220726		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.300G>A	9.37:g.92220726G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ87|Q9C076	Silent	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R100	ENST00000252506.6	37	c.300	CCDS6686.1	9																																																																																			GADD45G	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000130222		0.652	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45G	HGNC	protein_coding	OTTHUMT00000053000.1	56	0.00	0	G	NM_006705		92220726	92220726	+1	no_errors	ENST00000252506	ensembl	human	known	69_37n	silent	33	42.11	24	SNP	1.000	A
GALM	130589	genome.wustl.edu	37	2	38958912	38958912	+	Missense_Mutation	SNP	T	T	C	rs570948999		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:38958912T>C	ENST00000272252.5	+	6	1064	c.812T>C	c.(811-813)gTa>gCa	p.V271A	GALM_ENST00000410063.1_Missense_Mutation_p.V123A	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	271					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GTACTAGAAGTATACACCACC	0.532													T|||	1	0.000199681	0.0	0.0	5008	,	,		19107	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													79.0	83.0	82.0					2																	38958912		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.812T>C	2.37:g.38958912T>C	ENSP00000272252:p.Val271Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd	p.V271A	ENST00000272252.5	37	c.812	CCDS1797.1	2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473542	0.84640	.	.	ENSG00000143891	ENST00000272252;ENST00000410063;ENST00000434934	T;T;T	0.51071	0.72;0.9;0.72	5.94	5.94	0.96194	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.83384	2.64	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.72080	-0.4398	10	0.72032	D	0.01	-18.4866	16.0522	0.80772	0.0:0.0:0.0:1.0	.	271	Q96C23	GALM_HUMAN	A	271;123;151	ENSP00000272252:V271A;ENSP00000386233:V123A;ENSP00000399473:V151A	ENSP00000272252:V271A	V	+	2	0	GALM	38812416	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.760000	0.85248	2.269000	0.75478	0.455000	0.32223	GTA	GALM	-	pfam_Aldose_1/G6P_1-epimerase,superfamily_Glyco_hydro-type_carb-bd	ENSG00000143891		0.532	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALM	HGNC	protein_coding	OTTHUMT00000219891.2	217	0.00	0	T	NM_138801		38958912	38958912	+1	no_errors	ENST00000272252	ensembl	human	known	69_37n	missense	140	45.17	117	SNP	0.999	C
GALNT8	26290	genome.wustl.edu	37	12	4870217	4870217	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:4870217G>A	ENST00000252318.2	+	7	1604	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	423					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGATCTCACCGCTGCCTTGAA	0.557																																					Colon(108;631 1558 7270 20097 39846)	dbGAP											0													176.0	138.0	151.0					12																	4870217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1267G>A	12.37:g.4870217G>A	ENSP00000252318:p.Ala423Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A423T	ENST00000252318.2	37	c.1267	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110133	0.37242	.	.	ENSG00000130035	ENST00000252318	T	0.59083	0.29	3.27	-2.98	0.05513	.	.	.	.	.	T	0.27205	0.0667	N	0.14661	0.345	0.09310	N	1	B	0.30193	0.272	B	0.15870	0.014	T	0.08493	-1.0719	9	0.22706	T	0.39	.	1.4781	0.02430	0.2688:0.1796:0.3713:0.1804	.	423	Q9NY28	GALT8_HUMAN	T	423	ENSP00000252318:A423T	ENSP00000252318:A423T	A	+	1	0	GALNT8	4740478	0.000000	0.05858	0.000000	0.03702	0.667000	0.39255	-3.679000	0.00395	-1.640000	0.01525	-0.368000	0.07277	GCT	GALNT8	-	NULL	ENSG00000130035		0.557	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	308	0.64	2	G	NM_017417		4870217	4870217	+1	no_errors	ENST00000252318	ensembl	human	known	69_37n	missense	225	34.21	117	SNP	0.000	A
GALNT18	374378	genome.wustl.edu	37	11	11362441	11362441	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:11362441G>A	ENST00000227756.4	-	7	1614	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	401					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCCTGAGAGCGTTCCTGCGGA	0.582																																						dbGAP											0													199.0	197.0	198.0					11																	11362441		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1203C>T	11.37:g.11362441G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95903|Q8NDY9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.N401	ENST00000227756.4	37	c.1203	CCDS7807.1	11																																																																																			GALNTL4	-	NULL	ENSG00000110328		0.582	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	HGNC	protein_coding	OTTHUMT00000385848.1	333	0.00	0	G	NM_198516		11362441	11362441	-1	no_errors	ENST00000227756	ensembl	human	known	69_37n	silent	245	36.27	140	SNP	0.948	A
GAPVD1	26130	genome.wustl.edu	37	9	128025929	128025929	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:128025929C>T	ENST00000495955.1	+	1	92				GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000394105.2_Intron|GAPVD1_ENST00000297933.6_Intron|GAPVD1_ENST00000469528.1_3'UTR|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000394084.1_Intron|GAPVD1_ENST00000394104.2_Intron			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGACCCAGCCCCAGCCTCAGC	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.-199+1691C>T	9.37:g.128025929C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	RNA	SNP	-	NULL	ENST00000495955.1	37	NULL		9																																																																																			GAPVD1	-	-	ENSG00000165219		0.502	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	8	0.00	0	C			128025929	128025929	+1	no_errors	ENST00000469528	ensembl	human	known	69_37n	rna	7	53.33	8	SNP	1.000	T
GATAD2B	57459	genome.wustl.edu	37	1	153784600	153784600	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:153784600T>C	ENST00000368655.4	-	9	1671	c.1428A>G	c.(1426-1428)gaA>gaG	p.E476E		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	476	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTAATCGCTGTTCAATTTCCT	0.463																																						dbGAP											0													104.0	107.0	106.0					1																	153784600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1428A>G	1.37:g.153784600T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.E476	ENST00000368655.4	37	c.1428	CCDS1054.1	1																																																																																			GATAD2B	-	NULL	ENSG00000143614		0.463	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD2B	HGNC	protein_coding	OTTHUMT00000090305.1	148	0.67	1	T	NM_020699		153784600	153784600	-1	no_errors	ENST00000368655	ensembl	human	known	69_37n	silent	327	20.15	83	SNP	1.000	C
GCC2	9648	genome.wustl.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q703fs	ENST00000309863.6	37	c.2098_2099	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	130	0.00	0	-	NM_014635		109087883	109087884	+1	no_errors	ENST00000309863	ensembl	human	known	69_37n	frame_shift_ins	78	32.17	37	INS	0.998:1.000	A
GCGR	2642	genome.wustl.edu	37	17	79768946	79768946	+	Missense_Mutation	SNP	G	G	A	rs28522411		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:79768946G>A	ENST00000400723.3	+	5	625	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	GCGR_ENST00000570996.1_Missense_Mutation_p.R111Q	NM_000160.3	NP_000151.1	P47871	GLR_HUMAN	glucagon receptor	111					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|hormone-mediated signaling pathway (GO:0009755)|positive regulation of GTPase activity (GO:0043547)|regulation of blood pressure (GO:0008217)|regulation of glycogen metabolic process (GO:0070873)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|guanyl-nucleotide exchange factor activity (GO:0005085)|peptide hormone binding (GO:0017046)			endometrium(2)	2					Glucagon recombinant(DB00040)	CGTGGACCCCGGGGGCAGCCT	0.697																																						dbGAP											0													21.0	26.0	24.0					17																	79768946		692	1591	2283	-	-	-	SO:0001583	missense	0			U03469, L20316	CCDS54177.1	17q25	2012-08-10			ENSG00000215644	ENSG00000215644		"""GPCR / Class B : Glucagon receptors"""	4192	protein-coding gene	gene with protein product		138033				8020989	Standard	XM_006722276		Approved	GGR	uc010wuw.2	P47871		ENST00000400723.3:c.332G>A	17.37:g.79768946G>A	ENSP00000383558:p.Arg111Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3M5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.R111Q	ENST00000400723.3	37	c.332	CCDS54177.1	17	.	.	.	.	.	.	.	.	.	.	G	7.859	0.725690	0.15439	.	.	ENSG00000215644	ENST00000400723	T	0.49432	0.78	3.75	-1.93	0.07594	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	T	0.18257	0.0438	N	0.02539	-0.55	0.24406	N	0.994684	B	0.15473	0.013	B	0.16289	0.015	T	0.29181	-1.0020	9	0.15952	T	0.53	.	7.9495	0.30006	0.6907:0.0:0.3093:0.0	.	111	P47871	GLR_HUMAN	Q	111	ENSP00000383558:R111Q	ENSP00000383558:R111Q	R	+	2	0	GCGR	.	0.000000	0.05858	0.963000	0.40424	0.246000	0.25737	-0.575000	0.05861	-0.290000	0.09025	0.313000	0.20887	CGG	GCGR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_glucagon_rcpt	ENSG00000215644		0.697	GCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCGR	HGNC	protein_coding	OTTHUMT00000439676.1	45	0.00	0	G	NM_000160		79768946	79768946	+1	no_errors	ENST00000400723	ensembl	human	known	69_37n	missense	68	19.77	17	SNP	0.926	A
GCN1L1	10985	genome.wustl.edu	37	12	120622011	120622011	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:120622011A>G	ENST00000300648.6	-	4	233	c.221T>C	c.(220-222)aTc>aCc	p.I74T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	74					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAACTGCTGGATGGCTGCCTG	0.587																																						dbGAP											0													67.0	69.0	68.0					12																	120622011		1903	4120	6023	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.221T>C	12.37:g.120622011A>G	ENSP00000300648:p.Ile74Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.I74T	ENST00000300648.6	37	c.221	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736064	0.69189	.	.	ENSG00000089154	ENST00000300648	T	0.00662	5.93	5.93	5.93	0.95920	.	0.115800	0.56097	D	0.000022	T	0.00815	0.0027	N	0.14661	0.345	0.58432	D	0.999995	P	0.43477	0.808	B	0.38458	0.274	T	0.80393	-0.1401	10	0.72032	D	0.01	-1.7729	16.418	0.83748	1.0:0.0:0.0:0.0	.	74	Q92616	GCN1L_HUMAN	T	74	ENSP00000300648:I74T	ENSP00000300648:I74T	I	-	2	0	GCN1L1	119106394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.402000	0.90205	2.281000	0.76405	0.524000	0.50904	ATC	GCN1L1	-	NULL	ENSG00000089154		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	97	0.00	0	A			120622011	120622011	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	78	31.90	37	SNP	1.000	G
GCNT2	2651	genome.wustl.edu	37	6	10626934	10626934	+	3'UTR	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:10626934T>C	ENST00000379597.3	+	0	1859				GCNT2_ENST00000410107.1_3'UTR|GCNT2_ENST00000265012.4_3'UTR|GCNT2_ENST00000495262.1_3'UTR|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000316170.3_3'UTR			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATGTTAACCGTTTCAGGACCA	0.433																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.*94T>C	6.37:g.10626934T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000379597.3	37	NULL	CCDS34338.1	6																																																																																			GCNT2	-	-	ENSG00000111846		0.433	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	51	0.00	0	T	NM_145649		10626934	10626934	+1	no_errors	ENST00000397423	ensembl	human	known	69_37n	rna	29	43.14	22	SNP	0.000	C
MYZAP	100820829	genome.wustl.edu	37	15	57921967	57921967	+	Missense_Mutation	SNP	C	C	T	rs200330646		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:57921967C>T	ENST00000267853.5	+	6	687	c.593C>T	c.(592-594)aCg>aTg	p.T198M	GCOM1_ENST00000572390.1_Missense_Mutation_p.T198M|GCOM1_ENST00000396180.1_Missense_Mutation_p.T167M|GCOM1_ENST00000587652.1_Missense_Mutation_p.T198M|GCOM1_ENST00000380560.2_Missense_Mutation_p.T129M|GCOM1_ENST00000574161.1_Missense_Mutation_p.T198M|GCOM1_ENST00000380568.3_Missense_Mutation_p.T198M|GCOM1_ENST00000380569.2_Missense_Mutation_p.T198M|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.T198M|GCOM1_ENST00000380561.2_Missense_Mutation_p.T167M			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	198					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CTGCAGCAGACGTATGAAGCA	0.423																																						dbGAP											0													104.0	96.0	99.0					15																	57921967		2192	4292	6484	-	-	-	SO:0001583	missense	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.593C>T	15.37:g.57921967C>T	ENSP00000267853:p.Thr198Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	NULL	p.T198M	ENST00000267853.5	37	c.593	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778165	0.70107	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.43	5.43	0.79202	.	0.161111	0.53938	D	0.000041	T	0.54822	0.1882	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	P;P;P;P	0.61201	0.885;0.885;0.885;0.885	T	0.54077	-0.8347	10	0.52906	T	0.07	-16.5704	18.0346	0.89296	0.0:1.0:0.0:0.0	.	198;198;198;198	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	M	198;167;167;129;198;198;198	ENSP00000369943:T198M;ENSP00000369935:T167M;ENSP00000379483:T167M;ENSP00000369933:T129M;ENSP00000267853:T198M;ENSP00000369939:T198M;ENSP00000369942:T198M	ENSP00000267853:T198M	T	+	2	0	GCOM1	55709259	0.991000	0.36638	0.936000	0.37596	0.877000	0.50540	3.126000	0.50477	2.540000	0.85666	0.650000	0.86243	ACG	GCOM1	-	NULL	ENSG00000137878		0.423	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2	230	0.00	0	C	NM_001018100		57921967	57921967	+1	no_errors	ENST00000380569	ensembl	human	known	69_37n	missense	152	40.16	102	SNP	0.966	T
MYZAP	100820829	genome.wustl.edu	37	15	57967241	57967241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:57967241G>T	ENST00000267853.5	+	12	1373	c.1279G>T	c.(1279-1281)Gga>Tga	p.G427*	GCOM1_ENST00000587652.1_Nonsense_Mutation_p.G427*|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000574161.1_Nonsense_Mutation_p.G427*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.G396*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.G427*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.G368*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.G399*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.G399*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.G358*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.G427*			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	427					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											CAGAGAGATAGGAGTGGGCTG	0.373																																						dbGAP											0													102.0	104.0	103.0					15																	57967241		2192	4292	6484	-	-	-	SO:0001587	stop_gained	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1279G>T	15.37:g.57967241G>T	ENSP00000267853:p.Gly427*	Somatic		WXS	Illumina GAIIx	Phase_IV	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Nonsense_Mutation	SNP	NULL	p.G427*	ENST00000267853.5	37	c.1279	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.962641	0.97151	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-28.1463	14.9994	0.71459	0.0:0.0:1.0:0.0	.	.	.	.	X	427;368;396;358;427;399;427	.	ENSP00000267853:G427X	G	+	1	0	GCOM1	55754533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.192000	0.72069	2.598000	0.87819	0.655000	0.94253	GGA	GCOM1	-	NULL	ENSG00000137878		0.373	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2	286	0.00	0	G	NM_001018100		57967241	57967241	+1	no_errors	ENST00000380569	ensembl	human	known	69_37n	nonsense	214	36.31	122	SNP	1.000	T
GDI1	2664	genome.wustl.edu	37	X	153669689	153669689	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153669689T>C	ENST00000447750.2	+	7	1154				FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCATGACTGTGGGTGAGAGG	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.819+147T>C	X.37:g.153669689T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	RNA	SNP	-	NULL	ENST00000447750.2	37	NULL	CCDS35452.1	X																																																																																			GDI1	-	-	ENSG00000203879		0.597	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	53	0.00	0	T	NM_001493		153669689	153669689	+1	no_errors	ENST00000471972	ensembl	human	putative	69_37n	rna	27	35.71	15	SNP	0.020	C
GDPD1	284161	genome.wustl.edu	37	17	57322807	57322807	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:57322807T>C	ENST00000284116.4	+	3	355	c.218T>C	c.(217-219)tTg>tCg	p.L73S	GDPD1_ENST00000581276.1_Missense_Mutation_p.L73S|GDPD1_ENST00000581140.1_Missense_Mutation_p.L73S	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	73	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGCTAGAATTGGACTGCCAT	0.363																																						dbGAP											0													121.0	108.0	112.0					17																	57322807		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.218T>C	17.37:g.57322807T>C	ENSP00000284116:p.Leu73Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L73S	ENST00000284116.4	37	c.218	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	T	13.82	2.349835	0.41599	.	.	ENSG00000153982	ENST00000284116	T	0.34859	1.34	5.0	5.0	0.66597	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.64905	-0.6297	10	0.87932	D	0	.	13.5793	0.61893	0.0:0.0:0.0:1.0	.	73;73	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	S	73	ENSP00000284116:L73S	ENSP00000284116:L73S	L	+	2	0	GDPD1	54677589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.651000	0.74372	1.881000	0.54492	0.397000	0.26171	TTG	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.363	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	259	0.00	0	T	NM_182569		57322807	57322807	+1	no_errors	ENST00000284116	ensembl	human	known	69_37n	missense	513	15.76	96	SNP	1.000	C
GGA1	26088	genome.wustl.edu	37	22	38028688	38028688	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:38028688delC	ENST00000343632.4	+	17	2276	c.1890delC	c.(1888-1890)ttcfs	p.F630fs	GGA1_ENST00000381756.5_Frame_Shift_Del_p.F647fs|GGA1_ENST00000406772.1_Frame_Shift_Del_p.F557fs|GGA1_ENST00000325180.8_Frame_Shift_Del_p.F543fs|GGA1_ENST00000337437.4_Frame_Shift_Del_p.F597fs	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	630	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGGACCAGTTCCCCCCACCTG	0.607																																						dbGAP											0													72.0	63.0	66.0					22																	38028688		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1890delC	22.37:g.38028688delC	ENSP00000341344:p.Phe630fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Frame_Shift_Del	DEL	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.P632fs	ENST00000343632.4	37	c.1890	CCDS13951.1	22																																																																																			GGA1	-	superfamily_Coatomer/clathrin_app_Ig-like	ENSG00000100083		0.607	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	144	0.00	0	C	NM_013365		38028688	38028688	+1	no_errors	ENST00000343632	ensembl	human	known	69_37n	frame_shift_del	73	35.65	41	DEL	1.000	-
GH2	2689	genome.wustl.edu	37	17	61957633	61957633	+	3'UTR	SNP	G	G	T	rs2854191		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:61957633G>T	ENST00000423893.2	-	0	763				GH2_ENST00000456543.2_Nonsense_Mutation_p.S233*|GH2_ENST00000449787.2_3'UTR|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CACCTTCCACGACCAGGAGAG	0.542																																						dbGAP											0													49.0	47.0	47.0					17																	61957633		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.*48C>A	17.37:g.61957633G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1A4H5|B1A4H7|O14643|O14644|P09587	Nonsense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.S233*	ENST00000423893.2	37	c.698	CCDS11647.1	17	.	.	.	.	.	.	.	.	.	.	g	6.846	0.525431	0.13066	.	.	ENSG00000136487	ENST00000456543	.	.	.	2.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.403	0.21648	0.1514:0.0:0.8486:0.0	.	.	.	.	X	233	.	ENSP00000394122:S233X	S	-	2	0	GH2	59311365	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.785000	0.26830	0.432000	0.26286	0.306000	0.20318	TCG	GH2	-	NULL	ENSG00000136487		0.542	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	218	0.00	0	G	NM_002059		61957633	61957633	-1	no_errors	ENST00000456543	ensembl	human	known	69_37n	nonsense	374	17.40	79	SNP	0.001	T
GHRHR	2692	genome.wustl.edu	37	7	31016142	31016143	+	Frame_Shift_Ins	INS	-	-	C	rs576049917		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:31016142_31016143insC	ENST00000326139.2	+	11	1119_1120	c.1073_1074insC	c.(1072-1077)ctccccfs	p.LP358fs	GHRHR_ENST00000409316.1_Frame_Shift_Ins_p.P125fs|GHRHR_ENST00000409904.3_Frame_Shift_Ins_p.LP294fs|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	358					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	GGCATCCGCCTCCCCCTGGAGC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1078dupC	7.37:g.31016147_31016147dupC	ENSP00000320180:p.Leu358fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99863	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.L360fs	ENST00000326139.2	37	c.1073_1074	CCDS5432.1	7																																																																																			GHRHR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000106128		0.584	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2	146	0.00	0	-			31016142	31016143	+1	no_errors	ENST00000326139	ensembl	human	known	69_37n	frame_shift_ins	95	31.65	44	INS	1.000:1.000	C
GJA5	2702	genome.wustl.edu	37	1	147231241	147231241	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:147231241C>T	ENST00000271348.2	-	2	267	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.V36M	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	36					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTGCCCAGCACGAGCATACGG	0.557																																						dbGAP											0													99.0	97.0	98.0					1																	147231241		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.106G>A	1.37:g.147231241C>T	ENSP00000271348:p.Val36Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.V36M	ENST00000271348.2	37	c.106	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912001	0.92178	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.99405	-5.84;-5.84;-5.84	5.78	5.78	0.91487	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98539	1.0631	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	36	P36382	CXA5_HUMAN	M	36	ENSP00000271348:V36M;ENSP00000358240:V36M;ENSP00000407645:V36M	ENSP00000271348:V36M	V	-	1	0	GJA5	145697865	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.811000	0.86092	2.724000	0.93272	0.563000	0.77884	GTG	GJA5	-	pfam_Connexin_N,prints_Connexin	ENSG00000143140		0.557	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	213	0.00	0	C	NM_181703		147231241	147231241	-1	no_errors	ENST00000271348	ensembl	human	known	69_37n	missense	397	17.12	82	SNP	1.000	T
GJB7	375519	genome.wustl.edu	37	6	87993980	87993980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:87993980delT	ENST00000525899.1	-	3	996	c.651delA	c.(649-651)aaafs	p.K217fs	GJB7_ENST00000296882.3_Frame_Shift_Del_p.K217fs	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	217					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.K217fs*>7(1)		endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GGACTTGAGGTTTTTTTAAAT	0.413																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											66.0	67.0	67.0					6																	87993980		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.651delA	6.37:g.87993980delT	ENSP00000435355:p.Lys217fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXL0|Q96KP0	Frame_Shift_Del	DEL	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.K217fs	ENST00000525899.1	37	c.651	CCDS5008.1	6																																																																																			GJB7	-	NULL	ENSG00000164411		0.413	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB7	HGNC	protein_coding	OTTHUMT00000394780.1	76	0.00	0	T			87993980	87993980	-1	no_errors	ENST00000296882	ensembl	human	known	69_37n	frame_shift_del	55	39.58	38	DEL	0.000	-
GK2	2712	genome.wustl.edu	37	4	80329336	80329336	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:80329336C>T	ENST00000358842.3	-	1	36	c.19G>A	c.(19-21)Gca>Aca	p.A7T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCCACAGCTGCTGTCTTTGGG	0.597																																						dbGAP											0													24.0	25.0	25.0					4																	80329336		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.19G>A	4.37:g.80329336C>T	ENSP00000351706:p.Ala7Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.A7T	ENST00000358842.3	37	c.19	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124414	0.20959	.	.	ENSG00000196475	ENST00000358842	T	0.14266	2.52	3.74	-0.302	0.12796	.	0.671285	0.14592	N	0.310206	T	0.07279	0.0184	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38222	-0.9671	10	0.18276	T	0.48	-23.1595	1.6668	0.02803	0.1806:0.468:0.1502:0.2012	.	7	Q14410	GLPK2_HUMAN	T	7	ENSP00000351706:A7T	ENSP00000351706:A7T	A	-	1	0	GK2	80548360	0.001000	0.12720	0.000000	0.03702	0.018000	0.09664	0.240000	0.18042	-0.104000	0.12154	-0.515000	0.04445	GCA	GK2	-	NULL	ENSG00000196475		0.597	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	89	0.00	0	C	NM_033214		80329336	80329336	-1	no_errors	ENST00000358842	ensembl	human	known	69_37n	missense	52	36.59	30	SNP	0.000	T
GLB1	2720	genome.wustl.edu	37	3	33075995	33075995	+	5'UTR	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:33075995delC	ENST00000497796.1	-	0	169				GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron			P16278	BGAL_HUMAN	galactosidase, beta 1						carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTGGCCTGGGCCCCCTCCATC	0.552																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000497796.1:c.-730G>-	3.37:g.33075995delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H8|B7Z6B0|P16279	RNA	DEL	-	NULL	ENST00000497796.1	37	NULL		3																																																																																			GLB1	-	-	ENSG00000170266		0.552	GLB1-016	KNOWN	basic	processed_transcript	GLB1	HGNC	protein_coding	OTTHUMT00000341914.1	117	0.00	0	C	NM_000404		33075995	33075995	-1	no_errors	ENST00000497796	ensembl	human	known	69_37n	rna	84	31.78	41	DEL	1.000	-
GLDC	2731	genome.wustl.edu	37	9	6558604	6558604	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:6558604C>A	ENST00000321612.6	-	17	2157	c.2007G>T	c.(2005-2007)gaG>gaT	p.E669D	GLDC_ENST00000460457.1_5'UTR	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	669					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATTTATCCACCTCCACAGGCT	0.522																																						dbGAP											0													192.0	168.0	176.0					9																	6558604		2203	4300	6503	-	-	-	SO:0001583	missense	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2007G>T	9.37:g.6558604C>A	ENSP00000370737:p.Glu669Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	p.E669D	ENST00000321612.6	37	c.2007	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226966	0.39399	.	.	ENSG00000178445	ENST00000321612	D	0.97888	-4.59	5.86	2.68	0.31781	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aromatic amino acid beta-eliminating lyase/threonine aldolase (1);	0.000000	0.85682	D	0.000000	D	0.92267	0.7547	N	0.13043	0.29	0.50313	D	0.999863	B	0.12630	0.006	B	0.13407	0.009	D	0.86648	0.1896	10	0.40728	T	0.16	-32.5949	7.3834	0.26868	0.0:0.5135:0.0:0.4865	.	669	P23378	GCSP_HUMAN	D	669	ENSP00000370737:E669D	ENSP00000370737:E669D	E	-	3	2	GLDC	6548604	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.612000	0.36889	0.747000	0.32809	0.650000	0.86243	GAG	GLDC	-	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo	ENSG00000178445		0.522	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	201	0.00	0	C	NM_000170		6558604	6558604	-1	no_errors	ENST00000321612	ensembl	human	known	69_37n	missense	172	34.10	89	SNP	1.000	A
GLIPR1L2	144321	genome.wustl.edu	37	12	75816802	75816802	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:75816802C>T	ENST00000550916.1	+	4	717				GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.H235Y|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000378692.3_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GAAAAAAATGCATAATGGATT	0.303																																						dbGAP											0													121.0	123.0	122.0					12																	75816802		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+33C>T	12.37:g.75816802C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.H235Y	ENST00000550916.1	37	c.703	CCDS58258.1	12	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241673	0.01493	.	.	ENSG00000180481	ENST00000320460	T	0.06218	3.33	4.52	-0.385	0.12470	.	.	.	.	.	T	0.04407	0.0121	.	.	.	0.09310	N	1	P	0.49447	0.924	B	0.41646	0.362	T	0.37337	-0.9710	7	.	.	.	.	2.5907	0.04841	0.2852:0.4679:0.1393:0.1075	.	235	Q4G1C9-2	.	Y	235	ENSP00000317385:H235Y	.	H	+	1	0	GLIPR1L2	74103069	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.336000	0.07863	0.280000	0.22209	-0.181000	0.13052	CAT	GLIPR1L2	-	NULL	ENSG00000180481		0.303	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1	376	0.00	0	C	NM_152436		75816802	75816802	+1	no_errors	ENST00000320460	ensembl	human	known	69_37n	missense	201	34.31	105	SNP	0.000	T
GLUL	2752	genome.wustl.edu	37	1	182354826	182354826	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:182354826C>T	ENST00000331872.6	-	5	1144				GLUL_ENST00000311223.5_Intron|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Intron|GLUL_ENST00000339526.4_Intron	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GTATCAGCAGCCCTTACTAGC	0.478																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.603+68G>A	1.37:g.182354826C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	RNA	SNP	-	NULL	ENST00000331872.6	37	NULL	CCDS1344.1	1																																																																																			GLUL	-	-	ENSG00000135821		0.478	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	136	0.00	0	C	NM_002065		182354826	182354826	-1	no_errors	ENST00000491322	ensembl	human	known	69_37n	rna	263	15.06	47	SNP	0.002	T
GLYR1	84656	genome.wustl.edu	37	16	4862228	4862229	+	Frame_Shift_Ins	INS	-	-	C	rs533332243		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:4862228_4862229insC	ENST00000321919.9	-	13	1216_1217	c.1140_1141insG	c.(1138-1143)gggcgcfs	p.R381fs	GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.R300fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.R364fs|GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.R375fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	381					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)								43,4221		0,43,2089						4.8	1.0			40	28,8226		0,28,4099	no	frameshift	GLYR1	NM_032569.3		0,71,6188	A1A1,A1R,RR		0.3392,1.0084,0.5672				71,12447				-	-	-	SO:0001589	frameshift_variant	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1141dupG	16.37:g.4862236_4862236dupC	ENSP00000322716:p.Arg381fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP	p.R380fs	ENST00000321919.9	37	c.1141_1140	CCDS10524.1	16																																																																																			GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.574	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2	74	0.00	0	-	NM_032569		4862228	4862229	-1	no_errors	ENST00000321919	ensembl	human	known	69_37n	frame_shift_ins	57	19.72	14	INS	0.990:0.170	C
GMEB1	10691	genome.wustl.edu	37	1	29041386	29041386	+	IGR	DEL	A	A	-	rs528044464	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:29041386delA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTTTTTAAAAAAAAAAA	0.343																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647		1.37:g.29041386delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT48|Q9NWH1|Q9UKD0	RNA	DEL	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.343	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	9	0.00	0	A	NM_006582		29041386	29041386	+1	no_errors	ENST00000480454	ensembl	human	known	69_37n	rna	6	45.45	5	DEL	0.252	-
GOLGA3	2802	genome.wustl.edu	37	12	133393373	133393373	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:133393373C>T	ENST00000450791.2	-	2	342	c.159G>A	c.(157-159)acG>acA	p.T53T	GOLGA3_ENST00000537452.1_Silent_p.T53T|GOLGA3_ENST00000456883.2_Silent_p.T53T|GOLGA3_ENST00000545875.1_Silent_p.T53T|GOLGA3_ENST00000204726.3_Silent_p.T53T			Q08378	GOGA3_HUMAN	golgin A3	53	Pro-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTTCCCCTTCCGTGGATGCTC	0.592																																						dbGAP											0													56.0	56.0	56.0					12																	133393373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.159G>A	12.37:g.133393373C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	superfamily_Prefoldin	p.T53	ENST00000450791.2	37	c.159	CCDS9281.1	12																																																																																			GOLGA3	-	NULL	ENSG00000090615		0.592	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	144	0.00	0	C	NM_005895		133393373	133393373	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	silent	105	28.08	41	SNP	0.007	T
GOLGA4	2803	genome.wustl.edu	37	3	37365196	37365196	+	Missense_Mutation	SNP	G	G	A	rs200223051		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:37365196G>A	ENST00000361924.2	+	14	2193	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.V629I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	607	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGAGATTACAGTCATGGTTGA	0.358																																						dbGAP											0													66.0	67.0	66.0					3																	37365196		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1819G>A	3.37:g.37365196G>A	ENSP00000354486:p.Val607Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.V607I	ENST00000361924.2	37	c.1819	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	G	8.741	0.918903	0.17982	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.21932	2.01;2.01;1.98	4.85	-8.06	0.01102	.	0.683124	0.12106	N	0.499012	T	0.06872	0.0175	N	0.02802	-0.49	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.35699	-0.9778	10	0.37606	T	0.19	.	11.4266	0.50014	0.2464:0.0:0.6467:0.1069	.	607;607;629;607	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	607;629;168;478	ENSP00000354486:V607I;ENSP00000349305:V629I;ENSP00000405842:V478I	ENSP00000349305:V629I	V	+	1	0	GOLGA4	37340200	0.001000	0.12720	0.206000	0.23566	0.904000	0.53231	-0.150000	0.10189	-1.311000	0.02309	-0.982000	0.02568	GTC	GOLGA4	-	NULL	ENSG00000144674		0.358	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	98	0.00	0	G	NM_002078		37365196	37365196	+1	no_errors	ENST00000361924	ensembl	human	known	69_37n	missense	33	56.58	43	SNP	0.333	A
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709989	22709989	+	RNA	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:22709989C>G	ENST00000314246.8	-	0	991				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TCATCCCTCTCTAGCTGGACT	0.522																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709989C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	C	3.319	-0.139210	0.06669	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.954	0.954	0.19595	.	.	.	.	.	T	0.62829	0.2460	.	.	.	.	.	.	D	0.67145	0.996	D	0.78314	0.991	T	0.66212	-0.5980	6	0.30854	T	0.27	.	7.8086	0.29217	0.0:1.0:0.0:0.0	.	32	F8WBT8	.	Q	32;32;250	.	ENSP00000327024:E32Q	E	-	1	0	AC116165.1	20261353	0.996000	0.38824	0.035000	0.18076	0.007000	0.05969	4.486000	0.60286	0.824000	0.34613	0.281000	0.19383	GAG	GOLGA8DP	-	-	ENSG00000185182		0.522	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1	15	0.00	0	C	NR_027407		22709989	22709989	-1	no_errors	ENST00000314246	ensembl	human	known	69_37n	rna	8	52.94	9	SNP	0.917	G
GOLGA8G	283768	genome.wustl.edu	37	15	28769148	28769148	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:28769148delC	ENST00000525590.2	-	15	1409	c.1348delG	c.(1348-1350)gagfs	p.E451fs	AC138749.1_ENST00000458870.1_RNA|RN7SL829P_ENST00000489494.2_RNA|GOLGA8G_ENST00000329523.6_Intron			Q08AF8	GOG8F_HUMAN	golgin A8 family, member G	233						Golgi apparatus (GO:0005794)				lung(1)	1		all_lung(180;1.98e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;4.69e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0201)|GBM - Glioblastoma multiforme(186;0.0503)|Lung(196;0.171)		GGTGCCTCCTCCCCCTCACTG	0.612																																						dbGAP											0													49.0	27.0	37.0					15																	28769148		1907	2486	4393	-	-	-	SO:0001589	frameshift_variant	0					15q13.1	2013-01-17	2010-02-12		ENSG00000183629	ENSG00000183629			25328	other	unknown			"""golgi autoantigen, golgin subfamily a, 8G"""			12477932	Standard	NR_033353		Approved	DKFZp434K052		Q08AF8	OTTHUMG00000167134	ENST00000525590.2:c.1348delG	15.37:g.28769148delC	ENSP00000458130:p.Glu451fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FTY1|Q1A5X9|Q8NDK0	Frame_Shift_Del	DEL	NULL	p.E232fs	ENST00000525590.2	37	c.694		15																																																																																			GOLGA8G	-	NULL	ENSG00000183629		0.612	GOLGA8G-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8G	HGNC	protein_coding	OTTHUMT00000393332.2	127	0.00	0	C	NR_033353.1		28769148	28769148	-1	no_errors	ENST00000433304	ensembl	human	known	69_37n	frame_shift_del	49	58.65	78	DEL	0.984	-
GON4L	54856	genome.wustl.edu	37	1	155724207	155724207	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155724207T>G	ENST00000368331.1	-	28	5638	c.5590A>C	c.(5590-5592)Aag>Cag	p.K1864Q	GON4L_ENST00000437809.1_Missense_Mutation_p.K1864Q|GON4L_ENST00000271883.5_Missense_Mutation_p.K1864Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1864					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTCTTCTTCAGCTTGGAA	0.542																																						dbGAP											0													147.0	148.0	147.0					1																	155724207		1933	4124	6057	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.5590A>C	1.37:g.155724207T>G	ENSP00000357315:p.Lys1864Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.K1864Q	ENST00000368331.1	37	c.5590		1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.358799	0.82353	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.11495	2.77;2.77;2.77	5.32	5.32	0.75619	.	0.065642	0.64402	D	0.000012	T	0.14141	0.0342	L	0.38531	1.155	0.41284	D	0.986932	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.08126	-1.0737	10	0.29301	T	0.29	.	15.1067	0.72326	0.0:0.0:0.0:1.0	.	1060;1864;1864	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	Q	1864	ENSP00000396117:K1864Q;ENSP00000357315:K1864Q;ENSP00000271883:K1864Q	ENSP00000271883:K1864Q	K	-	1	0	GON4L	153990831	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.874000	0.56101	2.233000	0.73108	0.533000	0.62120	AAG	GON4L	-	NULL	ENSG00000116580		0.542	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		204	0.00	0	T	NM_032292		155724207	155724207	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	382	13.57	60	SNP	1.000	G
GON4L	54856	genome.wustl.edu	37	1	155735933	155735933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155735933G>A	ENST00000368331.1	-	21	3379	c.3331C>T	c.(3331-3333)Cga>Tga	p.R1111*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Nonsense_Mutation_p.R1111*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.R1111*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.R1111*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1111					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TATGGCTTTCGAAACTTAGAA	0.537																																						dbGAP											0													102.0	98.0	99.0					1																	155735933		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3331C>T	1.37:g.155735933G>A	ENSP00000357315:p.Arg1111*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.R1111*	ENST00000368331.1	37	c.3331		1	.	.	.	.	.	.	.	.	.	.	G	41	8.810441	0.98962	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	.	.	.	5.28	4.35	0.52113	.	0.124622	0.36628	N	0.002486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1777	0.72927	0.0:0.0:0.8582:0.1418	.	.	.	.	X	1111	.	ENSP00000271883:R1111X	R	-	1	2	GON4L	154002557	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	4.714000	0.61902	1.435000	0.47434	0.655000	0.94253	CGA	GON4L	-	NULL	ENSG00000116580		0.537	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		395	0.00	0	G	NM_032292		155735933	155735933	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	nonsense	624	18.91	146	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155744917	155744917	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155744917C>T	ENST00000368331.1	-	17	2274	c.2226G>A	c.(2224-2226)caG>caA	p.Q742Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.Q742Q|GON4L_ENST00000271883.5_Silent_p.Q742Q|GON4L_ENST00000361040.5_Silent_p.Q742Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	742					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGGGTTGTACTGATGGTGAA	0.463																																						dbGAP											0													79.0	81.0	80.0					1																	155744917		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2226G>A	1.37:g.155744917C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q742	ENST00000368331.1	37	c.2226		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.463	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		482	0.21	1	C	NM_032292		155744917	155744917	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	silent	948	16.77	191	SNP	0.043	T
GPATCH2	55105	genome.wustl.edu	37	1	217784358	217784358	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:217784358A>G	ENST00000366935.3	-	4	1001	c.891T>C	c.(889-891)ggT>ggC	p.G297G	GPATCH2_ENST00000366934.3_Silent_p.G297G	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	297					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTCCAGTGATACCACATGCTC	0.443																																						dbGAP											0													143.0	133.0	136.0					1																	217784358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.891T>C	1.37:g.217784358A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Silent	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.G297	ENST00000366935.3	37	c.891	CCDS1518.1	1																																																																																			GPATCH2	-	NULL	ENSG00000092978		0.443	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	228	0.00	0	A	NM_018040		217784358	217784358	-1	no_errors	ENST00000366935	ensembl	human	known	69_37n	silent	519	15.31	94	SNP	0.819	G
GPR113	165082	genome.wustl.edu	37	2	26536705	26536705	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:26536705T>C	ENST00000311519.1	-	8	1198	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	GPR113_ENST00000333478.6_Missense_Mutation_p.D201G|GPR113_ENST00000421160.2_Missense_Mutation_p.D331G|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.D3G	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	400					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACGTGGTGTCAGCCATCGG	0.597																																						dbGAP											0													92.0	89.0	90.0					2																	26536705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1199A>G	2.37:g.26536705T>C	ENSP00000307831:p.Asp400Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D201G	ENST00000311519.1	37	c.602	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	T	7.504	0.653363	0.14580	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.34072	1.38;3.03;3.03;3.03	5.8	5.8	0.92144	.	.	.	.	.	T	0.49592	0.1566	L	0.55481	1.735	0.80722	D	1	B;P;P;D	0.69078	0.415;0.835;0.615;0.997	B;B;B;P	0.60682	0.147;0.311;0.206;0.878	T	0.41858	-0.9485	9	0.33940	T	0.23	-10.8286	12.542	0.56177	0.0:0.0:0.0:1.0	.	331;201;400;3	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	G	3;201;331;400	ENSP00000445729:D3G;ENSP00000327396:D201G;ENSP00000388537:D331G;ENSP00000307831:D400G	ENSP00000307831:D400G	D	-	2	0	GPR113	26390209	0.992000	0.36948	0.057000	0.19452	0.008000	0.06430	3.776000	0.55356	2.224000	0.72417	0.533000	0.62120	GAC	GPR113	-	NULL	ENSG00000173567		0.597	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	159	0.62	1	T	NM_153835		26536705	26536705	-1	no_errors	ENST00000333478	ensembl	human	known	69_37n	missense	90	38.93	58	SNP	0.469	C
GPR116	221395	genome.wustl.edu	37	6	46834803	46834803	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:46834803G>A	ENST00000283296.7	-	13	1981	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	GPR116_ENST00000545669.1_5'UTR|GPR116_ENST00000362015.4_Silent_p.L565L|GPR116_ENST00000265417.7_Silent_p.L565L|GPR116_ENST00000456426.2_Silent_p.L423L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	565					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTAGAGGCAGCGGGTGAACA	0.428																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													179.0	163.0	169.0					6																	46834803		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1693C>T	6.37:g.46834803G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.L565	ENST00000283296.7	37	c.1693	CCDS4919.1	6																																																																																			GPR116	-	NULL	ENSG00000069122		0.428	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	310	0.32	1	G	NM_015234		46834803	46834803	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	silent	221	33.43	111	SNP	0.804	A
GPR126	57211	genome.wustl.edu	37	6	142630780	142630780	+	Splice_Site	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:142630780A>G	ENST00000230173.6	+	2	578	c.102A>G	c.(100-102)tcA>tcG	p.S34S	GPR126_ENST00000367609.3_Splice_Site_p.S34S|GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Splice_Site_p.S34S|GPR126_ENST00000296932.8_Splice_Site_p.S34S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	34					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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTCCTCACTCAGGTAAGACTC	0.408																																						dbGAP											0													79.0	74.0	76.0					6																	142630780		1906	4129	6035	-	-	-	SO:0001630	splice_region_variant	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.103+1A>G	6.37:g.142630780A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S34	ENST00000230173.6	37	c.102	CCDS47490.1	6																																																																																			GPR126	-	NULL	ENSG00000112414		0.408	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	323	0.00	0	A		Silent	142630780	142630780	+1	no_errors	ENST00000367609	ensembl	human	known	69_37n	silent	97	72.98	262	SNP	1.000	G
GPR144	347088	genome.wustl.edu	37	9	127214789	127214789	+	Splice_Site	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:127214789delC	ENST00000334810.1	+	3	125	c.125delC	c.(124-126)gcc>gc	p.A42fs				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	42					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)			central_nervous_system(1)|endometrium(3)	4						TCGTTTTTAGCCCCCGTGGCC	0.622																																						dbGAP											0													36.0	39.0	38.0					9																	127214789		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.125-1C>-	9.37:g.127214789delC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SL4|Q8NH12	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V44fs	ENST00000334810.1	37	c.125	CCDS48016.1	9																																																																																			GPR144	-	NULL	ENSG00000180264		0.622	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	101	0.00	0	C	NM_182611	Frame_Shift_Del	127214789	127214789	+1	no_errors	ENST00000334810	ensembl	human	known	69_37n	frame_shift_del	73	33.91	39	DEL	0.003	-
GPR146	115330	genome.wustl.edu	37	7	1097299	1097299	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:1097299C>T	ENST00000397095.1	+	2	371	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	GPR146_ENST00000297468.3_Silent_p.L50L|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCTGCTGGTGCTGGCCAACCT	0.657																																						dbGAP											0													55.0	41.0	45.0					7																	1097299		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"""GPCR / Class A : Orphans"""	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.148C>T	7.37:g.1097299C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SP5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L50	ENST00000397095.1	37	c.148	CCDS5321.1	7																																																																																			GPR146	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164849		0.657	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR146	HGNC	protein_coding	OTTHUMT00000206855.1	23	0.00	0	C	NM_138445		1097299	1097299	+1	no_errors	ENST00000297468	ensembl	human	known	69_37n	silent	18	43.75	14	SNP	1.000	T
GPR150	285601	genome.wustl.edu	37	5	94957230	94957230	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:94957230C>T	ENST00000380007.2	+	1	1449	c.1251C>T	c.(1249-1251)cgC>cgT	p.R417R		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	417						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GCGGCTTGCGCCCACCCCCTC	0.682																																						dbGAP											0													9.0	10.0	9.0					5																	94957230		2125	4113	6238	-	-	-	SO:0001819	synonymous_variant	0			BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"""GPCR / Class A : Orphans"""	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.1251C>T	5.37:g.94957230C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.R417	ENST00000380007.2	37	c.1251	CCDS4074.1	5																																																																																			GPR150	-	NULL	ENSG00000178015		0.682	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR150	HGNC	protein_coding	OTTHUMT00000241657.2	27	0.00	0	C			94957230	94957230	+1	no_errors	ENST00000380007	ensembl	human	known	69_37n	silent	11	53.85	14	SNP	1.000	T
GPR153	387509	genome.wustl.edu	37	1	6310563	6310563	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:6310563C>A	ENST00000377893.2	-	5	1360	c.1101G>T	c.(1099-1101)gaG>gaT	p.E367D		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	367						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCAGGCCCCCCTCCAGGGCGG	0.637																																						dbGAP											0													34.0	30.0	32.0					1																	6310563		2199	4299	6498	-	-	-	SO:0001583	missense	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.1101G>T	1.37:g.6310563C>A	ENSP00000367125:p.Glu367Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPCR_153,prints_GPCR_153/162	p.E367D	ENST00000377893.2	37	c.1101	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113171	0.56398	.	.	ENSG00000158292	ENST00000377893	T	0.26518	1.73	5.17	1.07	0.20283	.	0.418956	0.24332	N	0.039459	T	0.20901	0.0503	L	0.50333	1.59	0.40916	D	0.984272	P	0.50156	0.932	B	0.42030	0.373	T	0.04635	-1.0937	10	0.32370	T	0.25	-22.28	8.7765	0.34765	0.0:0.6656:0.0:0.3344	.	367	Q6NV75	GP153_HUMAN	D	367	ENSP00000367125:E367D	ENSP00000367125:E367D	E	-	3	2	GPR153	6233150	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.598000	0.36740	0.184000	0.20083	0.455000	0.32223	GAG	GPR153	-	prints_GPCR_153	ENSG00000158292		0.637	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	60	0.00	0	C			6310563	6310563	-1	no_errors	ENST00000377893	ensembl	human	known	69_37n	missense	30	51.61	32	SNP	0.999	A
GPR161	23432	genome.wustl.edu	37	1	168066024	168066024	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:168066024A>G	ENST00000367838.1	-	5	1134	c.821T>C	c.(820-822)gTg>gCg	p.V274A	GPR161_ENST00000367835.1_Missense_Mutation_p.V274A|GPR161_ENST00000537209.1_Missense_Mutation_p.V294A|GPR161_ENST00000271357.5_Missense_Mutation_p.V274A|GPR161_ENST00000361697.2_Missense_Mutation_p.V274A|GPR161_ENST00000546300.1_Missense_Mutation_p.V160A|GPR161_ENST00000367836.1_Missense_Mutation_p.V142A|GPR161_ENST00000539777.1_Missense_Mutation_p.V196A	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	274					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					ACCGAGGACCACCAGGATGGT	0.607																																						dbGAP											0													95.0	97.0	96.0					1																	168066024		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.821T>C	1.37:g.168066024A>G	ENSP00000356812:p.Val274Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V294A	ENST00000367838.1	37	c.881	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531928	0.85706	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.46614	1.455	0.43467	D	0.995671	P;D;D;D;P;D	0.76494	0.797;0.997;0.998;0.999;0.94;0.999	P;D;D;D;P;D	0.72982	0.63;0.93;0.979;0.954;0.717;0.978	T	0.55927	-0.8063	9	0.87932	D	0	-30.2336	15.5148	0.75815	1.0:0.0:0.0:0.0	.	294;160;196;294;274;274	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	A	274;274;142;274;160;196;294;274	ENSP00000356812:V274A;ENSP00000271357:V274A;ENSP00000356810:V142A;ENSP00000356809:V274A;ENSP00000444348:V160A;ENSP00000437576:V196A;ENSP00000441039:V294A;ENSP00000355194:V274A	ENSP00000271357:V274A	V	-	2	0	GPR161	166332648	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.118000	0.94355	2.207000	0.71202	0.459000	0.35465	GTG	GPR161	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000143147		0.607	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	75	0.00	0	A	NM_007369		168066024	168066024	-1	no_errors	ENST00000537209	ensembl	human	known	69_37n	missense	117	12.59	17	SNP	1.000	G
GPR26	2849	genome.wustl.edu	37	10	125426499	125426499	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:125426499C>T	ENST00000284674.1	+	1	629	c.576C>T	c.(574-576)taC>taT	p.Y192Y		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	192					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCTGCACGTACCTCAAGGTGC	0.652																																						dbGAP											0													35.0	25.0	29.0					10																	125426499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.576C>T	10.37:g.125426499C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M2E2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.Y192	ENST00000284674.1	37	c.576	CCDS7636.1	10																																																																																			GPR26	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000154478		0.652	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	39	0.00	0	C			125426499	125426499	+1	no_errors	ENST00000284674	ensembl	human	known	69_37n	silent	23	40.00	16	SNP	1.000	T
GPR34	2857	genome.wustl.edu	37	X	41555260	41555260	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:41555260T>A	ENST00000378142.4	+	3	658	c.374T>A	c.(373-375)aTt>aAt	p.I125N	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.I125N|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	125					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CTAGGTGTGATTCTGTGCAAG	0.373																																						dbGAP											0													180.0	163.0	168.0					X																	41555260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.374T>A	X.37:g.41555260T>A	ENSP00000367384:p.Ile125Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95853	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.I125N	ENST00000378142.4	37	c.374	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252362	0.39797	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.73258	-0.73;-0.73	5.96	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.818909	0.11394	N	0.568493	T	0.72170	0.3427	M	0.72479	2.2	0.09310	N	1	P	0.36249	0.545	B	0.41691	0.364	T	0.63897	-0.6533	10	0.39692	T	0.17	-4.9897	9.4778	0.38882	0.0:0.1418:0.0:0.8582	.	125	Q9UPC5	GPR34_HUMAN	N	125;125;78	ENSP00000367384:I125N;ENSP00000367378:I125N	ENSP00000367378:I125N	I	+	2	0	GPR34	41440204	0.001000	0.12720	0.252000	0.24328	0.998000	0.95712	1.288000	0.33296	2.014000	0.59158	0.481000	0.45027	ATT	GPR34	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000171659		0.373	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	343	0.00	0	T	NM_005300		41555260	41555260	+1	no_errors	ENST00000378138	ensembl	human	known	69_37n	missense	223	35.55	123	SNP	0.011	A
GPR75	10936	genome.wustl.edu	37	2	54081275	54081276	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:54081275_54081276delAG	ENST00000394705.2	-	2	888_889	c.618_619delCT	c.(616-621)ctctatfs	p.Y207fs	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	207					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCGACCACATAGAGAGACAAAA	0.51																																						dbGAP											0									,	1,4265		0,1,2132					,	5.7	1.0			98	0,8254		0,0,4127	no	frameshift,intron	GPR75,GPR75-ASB3	NM_006794.3,NM_001164165.1	,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,	,		1,12519				-	-	-	SO:0001589	frameshift_variant	0			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.618_619delCT	2.37:g.54081279_54081280delAG	ENSP00000378195:p.Tyr207fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC02|Q6NWR2	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y207fs	ENST00000394705.2	37	c.619_618	CCDS1849.1	2																																																																																			GPR75	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000119737		0.510	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	266	0.00	0	AG			54081275	54081276	-1	no_errors	ENST00000394705	ensembl	human	known	69_37n	frame_shift_del	172	27.73	66	DEL	1.000:0.894	-
C5AR2	27202	genome.wustl.edu	37	19	47844308	47844308	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:47844308T>C	ENST00000595464.1	+	2	470	c.252T>C	c.(250-252)tgT>tgC	p.C84C	C5AR2_ENST00000600626.1_Silent_p.C84C|C5AR2_ENST00000257267.2_Silent_p.C84C	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	84					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TGCTGTGCTGTTTGTCTCTGC	0.672																																						dbGAP											0													112.0	105.0	107.0					19																	47844308		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.252T>C	19.37:g.47844308T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA09	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	p.C84	ENST00000595464.1	37	c.252	CCDS12699.1	19																																																																																			GPR77	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt	ENSG00000134830		0.672	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR77	HGNC	protein_coding	OTTHUMT00000466926.1	104	0.00	0	T	NM_018485		47844308	47844308	+1	no_errors	ENST00000257267	ensembl	human	known	69_37n	silent	60	32.22	29	SNP	0.006	C
GPR98	84059	genome.wustl.edu	37	5	89938470	89938470	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:89938470A>G	ENST00000405460.2	+	12	2354	c.2258A>G	c.(2257-2259)cAa>cGa	p.Q753R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	753					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGGAAAACCAAGTGCTGAAA	0.413																																						dbGAP											0													120.0	122.0	121.0					5																	89938470		1804	4075	5879	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2258A>G	5.37:g.89938470A>G	ENSP00000384582:p.Gln753Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q753R	ENST00000405460.2	37	c.2258	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773405	0.69992	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.27104	1.69	5.09	3.89	0.44902	.	0.276889	0.42294	D	0.000733	T	0.39886	0.1095	L	0.60455	1.87	0.80722	D	1	D	0.58970	0.984	P	0.58210	0.835	T	0.11616	-1.0580	10	0.48119	T	0.1	.	11.8284	0.52280	0.8531:0.1469:0.0:0.0	.	753	Q8WXG9	GPR98_HUMAN	R	753	ENSP00000384582:Q753R	ENSP00000296619:Q753R	Q	+	2	0	GPR98	89974226	1.000000	0.71417	0.836000	0.33094	0.613000	0.37349	8.974000	0.93433	0.745000	0.32763	0.377000	0.23210	CAA	GPR98	-	NULL	ENSG00000164199		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	156	0.64	1	A	NM_032119		89938470	89938470	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	145	34.53	77	SNP	1.000	G
GPR98	84059	genome.wustl.edu	37	5	89943554	89943554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:89943554delT	ENST00000405460.2	+	17	3358	c.3262delT	c.(3262-3264)tttfs	p.F1088fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1088	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGATGAGCCCTTTTATATAAT	0.368																																						dbGAP											0													98.0	96.0	96.0					5																	89943554		1835	4078	5913	-	-	-	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3262delT	5.37:g.89943554delT	ENSP00000384582:p.Phe1088fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Y1089fs	ENST00000405460.2	37	c.3262	CCDS47246.1	5																																																																																			GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.368	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	304	0.00	0	T	NM_032119		89943554	89943554	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	frame_shift_del	186	32.13	89	DEL	0.999	-
GPX8	493869	genome.wustl.edu	37	5	54460122	54460122	+	3'UTR	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:54460122T>G	ENST00000503787.1	+	0	781				CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000296733.1_Intron|CDC20B_ENST00000331730.3_Intron|GPX8_ENST00000296734.6_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|GPX8_ENST00000515370.1_3'UTR	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)						response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	Attttttttttggagacagtg	0.398																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.*76T>G	5.37:g.54460122T>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000503787.1	37	NULL	CCDS34156.1	5																																																																																			GPX8	-	-	ENSG00000164294		0.398	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	28	0.00	0	T	NM_001008397		54460122	54460122	+1	no_errors	ENST00000506123	ensembl	human	known	69_37n	rna	12	47.83	11	SNP	0.049	G
GPR98	84059	genome.wustl.edu	37	5	90024500	90024500	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:90024500T>G	ENST00000405460.2	+	49	10272	c.10176T>G	c.(10174-10176)aaT>aaG	p.N3392K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3392					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGGTGGAATGGAGGAAGCT	0.443																																						dbGAP											0													192.0	186.0	188.0					5																	90024500		1938	4146	6084	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10176T>G	5.37:g.90024500T>G	ENSP00000384582:p.Asn3392Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N3392K	ENST00000405460.2	37	c.10176	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.20|15.20	2.762891|2.762891	0.49574|0.49574	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.31510	.|1.49	5.77|5.77	0.517|0.517	0.17025|0.17025	.|.	.|0.282362	.|0.42964	.|D	.|0.000633	T|T	0.26629|0.26629	0.0651|0.0651	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|B;B	.|0.24823	.|0.112;0.1	.|B;B	.|0.24541	.|0.024;0.054	T|T	0.07558|0.07558	-1.0766|-1.0766	5|10	.|0.66056	.|D	.|0.02	.|.	9.3907|9.3907	0.38372|0.38372	0.0:0.3762:0.0:0.6238|0.0:0.3762:0.0:0.6238	.|.	.|3392;3392	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	R|K	958|3392	.|ENSP00000384582:N3392K	.|ENSP00000296619:N3392K	M|N	+|+	2|3	0|2	GPR98|GPR98	90060256|90060256	0.148000|0.148000	0.22702|0.22702	0.947000|0.947000	0.38551|0.38551	0.968000|0.968000	0.65278|0.65278	-0.026000|-0.026000	0.12392|0.12392	-0.120000|-0.120000	0.11809|0.11809	0.455000|0.455000	0.32223|0.32223	ATG|AAT	GPR98	-	pfscan_EAR	ENSG00000164199		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	306	0.00	0	T	NM_032119		90024500	90024500	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	192	35.14	104	SNP	0.948	G
GRHL3	57822	genome.wustl.edu	37	1	24657985	24657985	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:24657985T>C	ENST00000350501.5	+	2	214	c.87T>C	c.(85-87)gaT>gaC	p.D29D	GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Silent_p.D34D|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000361548.4_Silent_p.D29D|GRHL3_ENST00000342072.4_5'UTR	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	29	Transcription activation.				central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTAGTGAGGATGAGGCCTGGA	0.483																																						dbGAP											0													143.0	127.0	133.0					1																	24657985		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.87T>C	1.37:g.24657985T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D29	ENST00000350501.5	37	c.87	CCDS252.2	1																																																																																			GRHL3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000158055		0.483	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	246	0.00	0	T	NM_021180		24657985	24657985	+1	no_errors	ENST00000350501	ensembl	human	known	69_37n	silent	156	37.45	94	SNP	0.975	C
GRIA1	2890	genome.wustl.edu	37	5	153078609	153078609	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:153078609C>T	ENST00000285900.5	+	10	1771	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G	GRIA1_ENST00000518783.1_Silent_p.G486G|GRIA1_ENST00000521843.2_Silent_p.G407G|GRIA1_ENST00000448073.4_Silent_p.G486G|GRIA1_ENST00000340592.5_Silent_p.G476G|GRIA1_ENST00000518142.1_Silent_p.G396G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	476					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCTGGAATGGCATGGTGGGAG	0.552																																						dbGAP											0													55.0	54.0	54.0					5																	153078609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1428C>T	5.37:g.153078609C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G486	ENST00000285900.5	37	c.1458	CCDS4322.1	5																																																																																			GRIA1	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	ENSG00000155511		0.552	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	256	0.00	0	C			153078609	153078609	+1	no_errors	ENST00000448073	ensembl	human	known	69_37n	silent	158	35.22	87	SNP	1.000	T
GRID1	2894	genome.wustl.edu	37	10	87362186	87362186	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:87362186C>T	ENST00000327946.7	-	16	2959	c.2874G>A	c.(2872-2874)tcG>tcA	p.S958S	GRID1_ENST00000552278.2_5'UTR|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Silent_p.S529S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	958					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCATGGTCGCCGAGCTGCTCA	0.657										Multiple Myeloma(13;0.14)																												dbGAP											0													60.0	62.0	62.0					10																	87362186		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2874G>A	10.37:g.87362186C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S958	ENST00000327946.7	37	c.2874	CCDS31236.1	10																																																																																			GRID1	-	NULL	ENSG00000182771		0.657	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	128	0.78	1	C	XM_043613		87362186	87362186	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	silent	102	33.77	52	SNP	0.616	T
GRIN2A	2903	genome.wustl.edu	37	16	9857380	9857380	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:9857380delT	ENST00000396573.2	-	14	4330	c.4021delA	c.(4021-4023)agcfs	p.S1342fs	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.S1342fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.S1342fs|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1342					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAAAGGGAGCTTTTTTTCCCC	0.542																																						dbGAP											0													62.0	65.0	64.0					16																	9857380		2197	4300	6497	-	-	-	SO:0001589	frameshift_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4021delA	16.37:g.9857380delT	ENSP00000379818:p.Ser1342fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00669|Q17RZ6	Frame_Shift_Del	DEL	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S1341fs	ENST00000396573.2	37	c.4021	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.542	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	113	0.00	0	T			9857380	9857380	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	frame_shift_del	89	27.05	33	DEL	0.070	-
GRK1	6011	genome.wustl.edu	37	13	114322116	114322116	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:114322116G>A	ENST00000335678.6	+	1	647	c.415G>A	c.(415-417)Gtg>Atg	p.V139M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	139	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GGAGGGGCCTGTGGAGATCCA	0.632																																						dbGAP											0													33.0	34.0	34.0					13																	114322116		1882	4126	6008	-	-	-	SO:0001583	missense	0					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.415G>A	13.37:g.114322116G>A	ENSP00000334876:p.Val139Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.V139M	ENST00000335678.6	37	c.415		13	.	.	.	.	.	.	.	.	.	.	G	4.016	0.000426	0.07819	.	.	ENSG00000185974	ENST00000335678	T	0.02236	4.38	5.15	-2.56	0.06268	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	1.832070	0.02370	N	0.077742	T	0.02012	0.0063	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.46610	-0.9179	9	0.51188	T	0.08	-0.3803	3.8171	0.08819	0.1426:0.1817:0.4766:0.1991	.	139	Q15835	RK_HUMAN	M	139	ENSP00000334876:V139M	ENSP00000334876:V139M	V	+	1	0	GRK1	113370117	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.373000	0.02568	-0.690000	0.05142	-1.134000	0.01955	GTG	GRK1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000185974		0.632	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	117	0.00	0	G	NM_002929		114322116	114322116	+1	no_errors	ENST00000335678	ensembl	human	known	69_37n	missense	67	38.53	42	SNP	0.000	A
GRK6	2870	genome.wustl.edu	37	5	176863419	176863419	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:176863419G>A	ENST00000355472.5	+	13	1460	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	GRK6_ENST00000507633.1_Missense_Mutation_p.R431H|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Missense_Mutation_p.R397H|GRK6_ENST00000528793.1_Missense_Mutation_p.R431H|GRK6_ENST00000355958.5_Missense_Mutation_p.R431H	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCCGAACGCCTGGGGTGT	0.672																																						dbGAP											0													29.0	30.0	30.0					5																	176863419		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1292G>A	5.37:g.176863419G>A	ENSP00000347655:p.Arg431His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60541|Q13652	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.R431H	ENST00000355472.5	37	c.1292	CCDS34303.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941791	0.73557	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89674	0.6783	H	0.99820	4.81	0.80722	D	1	P;D;D;B	0.67145	0.945;0.993;0.996;0.062	P;P;P;B	0.55713	0.463;0.782;0.675;0.014	D	0.93908	0.7194	10	0.87932	D	0	-27.579	14.7341	0.69404	0.0712:0.0:0.9288:0.0	.	431;401;431;431	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	H	431;431;397;431;431	ENSP00000347655:R431H;ENSP00000427581:R431H;ENSP00000377204:R397H;ENSP00000348230:R431H;ENSP00000433511:R431H	ENSP00000347655:R431H	R	+	2	0	GRK6	176796025	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	9.680000	0.98651	2.625000	0.88918	0.484000	0.47621	CGC	GRK6	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000198055		0.672	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRK6	HGNC	protein_coding	OTTHUMT00000373204.1	44	0.00	0	G	NM_002082		176863419	176863419	+1	no_errors	ENST00000528793	ensembl	human	known	69_37n	missense	22	42.50	17	SNP	1.000	A
GRM3	2913	genome.wustl.edu	37	7	86415801	86415801	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:86415801G>A	ENST00000361669.2	+	3	1792	c.693G>A	c.(691-693)gaG>gaA	p.E231E	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Silent_p.E231E|GRM3_ENST00000536043.1_Silent_p.E103E|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Silent_p.E229E	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	231					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGGCCTTCGAGCAGGAAGCCC	0.597																																					GBM(52;969 1098 3139 52280)	dbGAP											0													59.0	55.0	56.0					7																	86415801		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.693G>A	7.37:g.86415801G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	p.E231	ENST00000361669.2	37	c.693	CCDS5600.1	7																																																																																			GRM3	-	pfam_ANF_lig-bd_rcpt	ENSG00000198822		0.597	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	50	0.00	0	G			86415801	86415801	+1	no_errors	ENST00000361669	ensembl	human	known	69_37n	silent	28	41.67	20	SNP	1.000	A
GRM8	2918	genome.wustl.edu	37	7	126409995	126409995	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:126409995G>A	ENST00000339582.2	-	7	2089	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	GRM8_ENST00000405249.1_Silent_p.Y427Y|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.Y427Y|GRM8_ENST00000358373.3_Silent_p.Y427Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	427					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAAGGCCAATGTATCCAGGGC	0.413										HNSCC(24;0.065)																												dbGAP											0													147.0	132.0	137.0					7																	126409995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1281C>T	7.37:g.126409995G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.Y427	ENST00000339582.2	37	c.1281	CCDS5794.1	7																																																																																			GRM8	-	pfam_ANF_lig-bd_rcpt	ENSG00000179603		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	218	0.46	1	G			126409995	126409995	-1	no_errors	ENST00000339582	ensembl	human	known	69_37n	silent	164	39.26	106	SNP	1.000	A
GSPT2	23708	genome.wustl.edu	37	X	51488002	51488002	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:51488002T>C	ENST00000340438.4	+	1	1522	c.1280T>C	c.(1279-1281)aTt>aCt	p.I427T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	427					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AACAGATCAATTGATGGACCA	0.428																																						dbGAP											0													82.0	74.0	77.0					X																	51488002		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1280T>C	X.37:g.51488002T>C	ENSP00000341247:p.Ile427Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.I427T	ENST00000340438.4	37	c.1280	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	T	4.494	0.091545	0.08632	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.40756	1.02	4.54	4.54	0.55810	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.312024	0.35013	N	0.003503	T	0.20577	0.0495	N	0.12853	0.265	0.26084	N	0.981058	B	0.02656	0.0	B	0.06405	0.002	T	0.16394	-1.0404	10	0.02654	T	1	-16.2638	11.2094	0.48788	0.0:0.0:0.0:1.0	.	427	Q8IYD1	ERF3B_HUMAN	T	427;344	ENSP00000341247:I427T	ENSP00000341247:I427T	I	+	2	0	GSPT2	51504742	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.618000	0.46393	2.011000	0.59026	0.478000	0.44815	ATT	GSPT2	-	superfamily_Transl_elong_init/rib_B-barrel	ENSG00000189369		0.428	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	253	0.00	0	T			51488002	51488002	+1	no_errors	ENST00000340438	ensembl	human	known	69_37n	missense	141	40.76	97	SNP	1.000	C
GTF2IRD2	84163	genome.wustl.edu	37	7	74212596	74212596	+	Missense_Mutation	SNP	G	G	A	rs587714862	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:74212596G>A	ENST00000405086.2	-	16	1444	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	GTF2IRD2_ENST00000451013.2_De_novo_Start_OutOfFrame	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tctatcttgcgttttcccact	0.418													G|||	2	0.000399361	0.0	0.0	5008	,	,		18814	0.002		0.0	False		,,,				2504	0.0				NSCLC(40;560 1096 7501 40315 49546)	dbGAP											0													10.0	9.0	10.0					7																	74212596		1397	2998	4395	-	-	-	SO:0001583	missense	0			BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1255C>T	7.37:g.74212596G>A	ENSP00000385491:p.Arg419Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.R419C	ENST00000405086.2	37	c.1255	CCDS5576.1	7	.	.	.	.	.	.	.	.	.	.	g	13.24	2.176865	0.38413	.	.	ENSG00000196275	ENST00000405086	T	0.13657	2.57	1.74	-0.477	0.12097	.	.	.	.	.	T	0.27933	0.0688	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.04621	-1.0938	9	0.72032	D	0.01	-6.7995	6.1255	0.20177	0.0:0.0:0.4919:0.5081	.	419	Q86UP8	GTD2A_HUMAN	C	419	ENSP00000385491:R419C	ENSP00000385491:R419C	R	-	1	0	GTF2IRD2	73850532	0.528000	0.26314	0.959000	0.39883	0.888000	0.51559	0.302000	0.19192	-0.115000	0.11915	0.442000	0.29010	CGC	GTF2IRD2	-	superfamily_GTF2I	ENSG00000196275		0.418	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2	HGNC	protein_coding	OTTHUMT00000252712.3	161	0.00	0	G	NM_173537		74212596	74212596	-1	no_errors	ENST00000405086	ensembl	human	known	69_37n	missense	95	34.48	50	SNP	0.967	A
GTF3C1	2975	genome.wustl.edu	37	16	27512666	27512666	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:27512666C>A	ENST00000356183.4	-	12	1923		c.e12-1		GTF3C1_ENST00000561623.1_Splice_Site	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTCTGAATCCTGGGCATCAC	0.502																																						dbGAP											0													122.0	114.0	117.0					16																	27512666		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1908-1G>T	16.37:g.27512666C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Splice_Site	SNP	-	e12-1	ENST00000356183.4	37	c.1908-1	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530256	0.64860	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0921	0.93231	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF3C1	27420167	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.256000	0.78350	2.667000	0.90743	0.563000	0.77884	.	GTF3C1	-	-	ENSG00000077235		0.502	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	145	0.68	1	C	NM_001520	Intron	27512666	27512666	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	splice_site	74	36.21	42	SNP	1.000	A
GTF3C2	2976	genome.wustl.edu	37	2	27552349	27552349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:27552349G>A	ENST00000359541.2	-	13	2203	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q592*			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	592					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTATCCGCTGCAGGGGTGAG	0.488																																						dbGAP											0													127.0	127.0	127.0					2																	27552349		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1774C>T	2.37:g.27552349G>A	ENSP00000352536:p.Gln592*	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W557|Q16632|Q9BWI7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q592*	ENST00000359541.2	37	c.1774	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.111318	0.98659	.	.	ENSG00000115207	ENST00000359541;ENST00000264720	.	.	.	5.87	5.87	0.94306	.	0.060445	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-8.1229	18.0718	0.89410	0.0:0.0:1.0:0.0	.	.	.	.	X	592	.	ENSP00000264720:Q592X	Q	-	1	0	GTF3C2	27405853	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	7.825000	0.86693	2.941000	0.99782	0.655000	0.94253	CAG	GTF3C2	-	superfamily_WD40_repeat_dom	ENSG00000115207		0.488	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	226	0.00	0	G			27552349	27552349	-1	no_errors	ENST00000264720	ensembl	human	known	69_37n	nonsense	125	35.90	70	SNP	1.000	A
GUCY2D	3000	genome.wustl.edu	37	17	7915514	7915514	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7915514C>T	ENST00000254854.4	+	9	1952	c.1802C>T	c.(1801-1803)gCt>gTt	p.A601V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CTTTTCCTGGCTCGGGGAGCA	0.637																																						dbGAP											0													34.0	39.0	37.0					17																	7915514		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1802C>T	17.37:g.7915514C>T	ENSP00000254854:p.Ala601Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A601V	ENST00000254854.4	37	c.1802	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530004	0.45073	.	.	ENSG00000132518	ENST00000254854	T	0.61980	0.06	5.97	2.84	0.33178	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.291823	0.24465	N	0.038291	T	0.56746	0.2006	N	0.21194	0.64	0.39261	D	0.964219	P	0.43701	0.815	P	0.51101	0.659	T	0.59484	-0.7446	10	0.72032	D	0.01	.	9.9925	0.41879	0.2338:0.3821:0.3841:0.0	.	601	Q02846	GUC2D_HUMAN	V	601	ENSP00000254854:A601V	ENSP00000254854:A601V	A	+	2	0	GUCY2D	7856239	0.182000	0.23173	0.456000	0.27044	0.051000	0.14879	1.295000	0.33377	0.394000	0.25230	-0.175000	0.13238	GCT	GUCY2D	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000132518		0.637	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	83	0.00	0	C			7915514	7915514	+1	no_errors	ENST00000254854	ensembl	human	known	69_37n	missense	56	34.88	30	SNP	0.914	T
H3F3B	3021	genome.wustl.edu	37	17	73774681	73774682	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:73774681_73774682delCT	ENST00000254810.4	-	4	537_538	c.405_406delAG	c.(403-408)agagctfs	p.RA135fs	H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000589599.1_Frame_Shift_Del_p.RA135fs|H3F3B_ENST00000587560.1_Frame_Shift_Del_p.RA135fs|H3F3B_ENST00000586607.1_Frame_Shift_Del_p.RA135fs|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000592643.1_Frame_Shift_Del_p.E111fs	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	135					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCACTTAAGCTCTCTCTCCCC	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.405_406delAG	17.37:g.73774687_73774688delCT	ENSP00000254810:p.Arg135fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R135fs	ENST00000254810.4	37	c.406_405	CCDS11729.1	17																																																																																			H3F3B	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000132475		0.401	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	291	0.00	0	CT	NM_005324		73774681	73774682	-1	no_errors	ENST00000254810	ensembl	human	known	69_37n	frame_shift_del	543	14.98	96	DEL	1.000:1.000	-
HAX1	10456	genome.wustl.edu	37	1	154245925	154245926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154245925_154245926insC	ENST00000328703.7	+	2	380_381	c.167_168insC	c.(166-171)caccccfs	p.HP56fs	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.HP56fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	56					cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTCCTCAGCACCCCCCTGAGG	0.505									Kostmann syndrome																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.173dupC	1.37:g.154245931_154245931dupC	ENSP00000329002:p.His56fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	pirsf_HS1--assoc_X-1	p.E59fs	ENST00000328703.7	37	c.167_168	CCDS1064.1	1																																																																																			HAX1	-	pirsf_HS1--assoc_X-1	ENSG00000143575		0.505	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	145	0.00	0	-	NM_006118		154245925	154245926	+1	no_errors	ENST00000483970	ensembl	human	known	69_37n	frame_shift_ins	325	16.88	66	INS	0.005:0.005	C
HAX1	10456	genome.wustl.edu	37	1	154248120	154248120	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154248120G>A	ENST00000328703.7	+	7	996	c.783G>A	c.(781-783)ctG>ctA	p.L261L	HAX1_ENST00000457918.2_Silent_p.L213L|HAX1_ENST00000532105.1_Silent_p.L133L|HAX1_ENST00000483970.2_Silent_p.L269L	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	261	Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCCAGCCCTGGATGATGCCT	0.488									Kostmann syndrome																													dbGAP											0													125.0	101.0	109.0					1																	154248120		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.783G>A	1.37:g.154248120G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	pirsf_HS1--assoc_X-1	p.L269	ENST00000328703.7	37	c.807	CCDS1064.1	1																																																																																			HAX1	-	pirsf_HS1--assoc_X-1	ENSG00000143575		0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	405	0.00	0	G	NM_006118		154248120	154248120	+1	no_errors	ENST00000483970	ensembl	human	known	69_37n	silent	776	17.50	165	SNP	0.850	A
HBA2	3040	genome.wustl.edu	37	16	223495	223495	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:223495A>G	ENST00000251595.6	+	3	391	c.325A>G	c.(325-327)Acc>Gcc	p.T109A	HBA2_ENST00000397806.1_Missense_Mutation_p.T77A	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	109					bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	CCTGCTGGTGACCCTGGCCGC	0.677											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									GBM(107;1340 2104 14383 27419)	dbGAP											0													22.0	32.0	28.0					16																	223495		2145	4296	6441	-	-	-	SO:0001583	missense	0			BC008572	CCDS10398.1	16p13.3	2014-05-19			ENSG00000188536	ENSG00000188536			4824	protein-coding gene	gene with protein product		141850				6452630, 2649166	Standard	NM_000517		Approved	HBA-T2	uc002cfv.4	P69905	OTTHUMG00000059924	ENST00000251595.6:c.325A>G	16.37:g.223495A>G	ENSP00000251595:p.Thr109Ala	Somatic	586	WXS	Illumina GAIIx	Phase_IV	P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a,prints_Haemoglobin_pi	p.T109A	ENST00000251595.6	37	c.325	CCDS10398.1	16	.	.	.	.	.	.	.	.	.	.	a	19.55	3.847844	0.71603	.	.	ENSG00000188536	ENST00000251595;ENST00000534957;ENST00000397806	D;D	0.93906	-3.12;-3.31	4.24	3.14	0.36123	Globin-like (1);Globin, structural domain (1);	0.244803	0.39985	N	0.001212	D	0.90103	0.6908	L	0.60845	1.875	0.30263	N	0.792968	B	0.27951	0.195	B	0.31614	0.133	D	0.87589	0.2489	10	0.87932	D	0	-19.4575	6.3394	0.21314	0.804:0.0:0.196:0.0	.	109	P69905	HBA_HUMAN	A	109;77;77	ENSP00000251595:T109A;ENSP00000380908:T77A	ENSP00000251595:T109A	T	+	1	0	HBA2	163495	0.995000	0.38212	0.954000	0.39281	0.928000	0.56348	2.416000	0.44644	1.563000	0.49615	0.452000	0.29995	ACC	HBA2	-	superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_pi	ENSG00000188536		0.677	HBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBA2	HGNC	protein_coding	OTTHUMT00000133194.1	96	0.00	0	A	NM_000517		223495	223495	+1	no_errors	ENST00000251595	ensembl	human	known	69_37n	missense	64	34.65	35	SNP	0.917	G
HBP1	26959	genome.wustl.edu	37	7	106840642	106840642	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:106840642A>G	ENST00000222574.4	+	10	1609	c.1423A>G	c.(1423-1425)Atg>Gtg	p.M475V	HBP1_ENST00000468410.1_Missense_Mutation_p.M475V|HBP1_ENST00000485846.1_Missense_Mutation_p.M475V|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	475					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTGGAAGAAAATGAAGAATGA	0.363																																						dbGAP											0													128.0	119.0	122.0					7																	106840642		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1423A>G	7.37:g.106840642A>G	ENSP00000222574:p.Met475Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_superfamily,superfamily_Ataxin-1_HBP1,superfamily_HMG_superfamily,smart_Ataxin_AXH_dom,smart_HMG_superfamily,pfscan_Ataxin-1_HBP1,pfscan_HMG_superfamily	p.M475V	ENST00000222574.4	37	c.1423	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282717	0.80692	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846	D;D;D	0.97924	-4.61;-4.61;-4.61	5.15	5.15	0.70609	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	L	0.46157	1.445	0.80722	D	1	D;P;D	0.67145	0.992;0.919;0.996	D;P;D	0.76071	0.987;0.647;0.973	D	0.99338	1.0911	10	0.87932	D	0	-13.5712	15.2846	0.73819	1.0:0.0:0.0:0.0	.	485;475;475	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	V	475	ENSP00000420500:M475V;ENSP00000222574:M475V;ENSP00000418738:M475V	ENSP00000222574:M475V	M	+	1	0	HBP1	106627878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.152000	0.94680	2.074000	0.62210	0.528000	0.53228	ATG	HBP1	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000105856		0.363	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	471	0.00	0	A	NM_012257		106840642	106840642	+1	no_errors	ENST00000222574	ensembl	human	known	69_37n	missense	341	31.53	157	SNP	1.000	G
HCAR2	338442	genome.wustl.edu	37	12	123187074	123187074	+	Missense_Mutation	SNP	G	G	A	rs201097098		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:123187074G>A	ENST00000328880.5	-	1	816	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	253					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAGAAGATGCGGATCCGCACA	0.537																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.757C>T	12.37:g.123187074G>A	ENSP00000375066:p.Arg253Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.R253C	ENST00000328880.5	37	c.757	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464738	0.26335	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.36878	1.23	4.83	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.154659	0.30311	N	0.009907	T	0.39835	0.1093	L	0.43152	1.355	0.09310	N	1	D	0.54207	0.965	P	0.56788	0.806	T	0.08534	-1.0717	10	0.39692	T	0.17	-17.7096	6.789	0.23689	0.0996:0.4059:0.4945:0.0	.	253	Q8TDS4	HCAR2_HUMAN	C	253	ENSP00000375066:R253C	ENSP00000375066:R253C	R	-	1	0	HCAR2	121753027	0.000000	0.05858	0.559000	0.28332	0.171000	0.22731	0.554000	0.23407	1.371000	0.46172	0.563000	0.77884	CGC	HCAR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	ENSG00000182782		0.537	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	396	0.00	0	G	NM_177551		123187074	123187074	-1	no_errors	ENST00000328880	ensembl	human	known	69_37n	missense	329	24.37	106	SNP	0.024	A
HCFC1	3054	genome.wustl.edu	37	X	153218311	153218311	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153218311G>A	ENST00000310441.7	-	19	5562	c.4596C>T	c.(4594-4596)gcC>gcT	p.A1532A	HCFC1_ENST00000354233.3_Silent_p.A1463A|HCFC1_ENST00000369984.4_Silent_p.A1576A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1532					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGACCTCGGCGGACTCCC	0.697											OREG0003630	type=REGULATORY REGION|Gene=BC010606|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													8.0	10.0	10.0					X																	153218311		1950	4057	6007	-	-	-	SO:0001819	synonymous_variant	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4596C>T	X.37:g.153218311G>A		Somatic	1753	WXS	Illumina GAIIx	Phase_IV	Q6P4G5	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R107*	ENST00000310441.7	37	c.319	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	4.497	0.092242	0.08632	.	.	ENSG00000172534	ENST00000444191	.	.	.	5.79	-0.43	0.12299	.	.	.	.	.	.	.	.	.	.	.	0.26981	N	0.965367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3428	0.15992	0.4816:0.0:0.3809:0.1375	.	.	.	.	X	107	.	.	R	-	1	2	HCFC1	152871505	0.637000	0.27216	0.373000	0.26003	0.472000	0.32918	-0.225000	0.09151	-0.234000	0.09782	-1.103000	0.02113	CGA	HCFC1	-	NULL	ENSG00000172534		0.697	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	31	0.00	0	G	NM_005334		153218311	153218311	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444191	ensembl	human	novel	69_37n	nonsense	19	26.92	7	SNP	0.024	A
HCFC1	3054	genome.wustl.edu	37	X	153222966	153222966	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153222966C>T	ENST00000310441.7	-	13	3118	c.2152G>A	c.(2152-2154)Gcg>Acg	p.A718T	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.A649T|HCFC1_ENST00000369984.4_Missense_Mutation_p.A718T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	718	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTTCCCGCTGGCAGGGGC	0.627																																						dbGAP											0													55.0	56.0	56.0					X																	153222966		2046	4166	6212	-	-	-	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2152G>A	X.37:g.153222966C>T	ENSP00000309555:p.Ala718Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.A718T	ENST00000310441.7	37	c.2152	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038268	0.75617	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03358	4.02;3.99;3.96	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	L	0.27053	0.805	0.48185	D	0.999605	P	0.51057	0.941	P	0.49597	0.616	T	0.51434	-0.8706	10	0.35671	T	0.21	.	16.9996	0.86378	0.0:1.0:0.0:0.0	.	718	P51610	HCFC1_HUMAN	T	718;718;649	ENSP00000309555:A718T;ENSP00000359001:A718T;ENSP00000346174:A649T	ENSP00000309555:A718T	A	-	1	0	HCFC1	152876160	1.000000	0.71417	0.915000	0.36163	0.670000	0.39368	4.370000	0.59517	2.277000	0.76020	0.600000	0.82982	GCG	HCFC1	-	NULL	ENSG00000172534		0.627	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	214	0.00	0	C	NM_005334		153222966	153222966	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	missense	143	46.64	125	SNP	0.998	T
HCN2	610	genome.wustl.edu	37	19	613253	613253	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:613253C>T	ENST00000251287.2	+	6	1643	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	530					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCAGGAGATCGTCAACTTCA	0.672																																					Melanoma(145;1175 2427 8056 36306)	dbGAP											0													34.0	31.0	32.0					19																	613253		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1590C>T	19.37:g.613253C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O60742|O60743|O75267|Q9UBS2	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.I530	ENST00000251287.2	37	c.1590	CCDS12035.1	19																																																																																			HCN2	-	superfamily_cNMP-bd-like	ENSG00000099822		0.672	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	69	0.00	0	C	NM_001194		613253	613253	+1	no_errors	ENST00000251287	ensembl	human	known	69_37n	silent	47	38.16	29	SNP	0.989	T
HCN4	10021	genome.wustl.edu	37	15	73615749	73615749	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:73615749T>C	ENST00000261917.3	-	8	3678	c.2685A>G	c.(2683-2685)ccA>ccG	p.P895P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	895					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCAGCTGATGGTGTGGGAG	0.697																																						dbGAP											0													7.0	10.0	9.0					15																	73615749		2081	4068	6149	-	-	-	SO:0001819	synonymous_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2685A>G	15.37:g.73615749T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.P895	ENST00000261917.3	37	c.2685	CCDS10248.1	15																																																																																			HCN4	-	NULL	ENSG00000138622		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	23	0.00	0	T	NM_005477		73615749	73615749	-1	no_errors	ENST00000261917	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	0.000	C
HDAC6	10013	genome.wustl.edu	37	X	48678572	48678572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:48678572delG	ENST00000334136.5	+	23	2425	c.2247delG	c.(2245-2247)ctgfs	p.L749fs	HDAC6_ENST00000444343.2_Frame_Shift_Del_p.L763fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.L749fs			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	749	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGGATCCGCTGGGGGGCTGCC	0.567																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													65.0	58.0	61.0					X																	48678572		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2247delG	X.37:g.48678572delG	ENSP00000334061:p.Leu749fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Frame_Shift_Del	DEL	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.G765fs	ENST00000334136.5	37	c.2289	CCDS14306.1	X																																																																																			HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.567	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	176	0.00	0	G	NM_006044		48678572	48678572	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	frame_shift_del	139	31.28	66	DEL	0.969	-
HEATR1	55127	genome.wustl.edu	37	1	236738190	236738190	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:236738190T>C	ENST00000366582.3	-	23	3212	c.3098A>G	c.(3097-3099)cAg>cGg	p.Q1033R	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1033					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGCAATAGCTGAGAAAGCAC	0.433																																						dbGAP											0													61.0	60.0	61.0					1																	236738190		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3098A>G	1.37:g.236738190T>C	ENSP00000355541:p.Gln1033Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.Q1033R	ENST00000366582.3	37	c.3098	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581846	0.28180	.	.	ENSG00000119285	ENST00000366582	T	0.66099	-0.19	5.73	5.73	0.89815	Armadillo-type fold (2);	0.479323	0.23349	N	0.049152	T	0.51109	0.1655	L	0.60455	1.87	0.80722	D	1	B	0.33739	0.422	B	0.21151	0.033	T	0.49163	-0.8968	10	0.15066	T	0.55	.	11.1522	0.48466	0.1374:0.0:0.0:0.8626	.	1033	Q9H583	HEAT1_HUMAN	R	1033	ENSP00000355541:Q1033R	ENSP00000355541:Q1033R	Q	-	2	0	HEATR1	234804813	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	1.193000	0.32162	2.172000	0.68678	0.533000	0.62120	CAG	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	179	0.56	1	T	XM_375853		236738190	236738190	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	350	15.01	62	SNP	1.000	C
HEATR1	55127	genome.wustl.edu	37	1	236761182	236761182	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:236761182A>G	ENST00000366582.3	-	5	713	c.599T>C	c.(598-600)gTg>gCg	p.V200A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V200A|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	200					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTCACCTTCACAGATTTTGT	0.353																																						dbGAP											0													137.0	129.0	132.0					1																	236761182		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.599T>C	1.37:g.236761182A>G	ENSP00000355541:p.Val200Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.V200A	ENST00000366582.3	37	c.599	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229659	0.79688	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05925	3.38;3.37	5.7	4.58	0.56647	.	0.121554	0.53938	N	0.000049	T	0.19446	0.0467	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	P	0.60473	0.875	T	0.00282	-1.1850	10	0.62326	D	0.03	.	11.5468	0.50698	0.9301:0.0:0.0699:0.0	.	200	Q9H583	HEAT1_HUMAN	A	200	ENSP00000355541:V200A;ENSP00000355540:V200A	ENSP00000355540:V200A	V	-	2	0	HEATR1	234827805	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.677000	0.74503	0.999000	0.39023	0.383000	0.25322	GTG	HEATR1	-	NULL	ENSG00000119285		0.353	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	327	0.00	0	A	XM_375853		236761182	236761182	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	632	14.25	105	SNP	1.000	G
MROH2B	133558	genome.wustl.edu	37	5	41012725	41012725	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:41012725A>T	ENST00000399564.4	-	30	3545	c.3095T>A	c.(3094-3096)aTc>aAc	p.I1032N	MROH2B_ENST00000506092.2_Missense_Mutation_p.I587N	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1032																	CAGGACAGTGATCATCCATAT	0.458																																						dbGAP											0													93.0	94.0	94.0					5																	41012725		1945	4161	6106	-	-	-	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3095T>A	5.37:g.41012725A>T	ENSP00000382476:p.Ile1032Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1032N	ENST00000399564.4	37	c.3095	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172908	0.38413	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.08370	3.1;3.1	6.04	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.319926	0.26991	N	0.021463	T	0.05914	0.0154	N	0.17674	0.51	0.22127	N	0.999345	P	0.40731	0.728	B	0.40825	0.341	T	0.34900	-0.9810	10	0.17369	T	0.5	.	8.834	0.35102	0.9159:0.0:0.0841:0.0	.	1032	Q7Z745	HTRB2_HUMAN	N	587;737;1032	ENSP00000441504:I587N;ENSP00000382476:I1032N	ENSP00000296803:I737N	I	-	2	0	HEATR7B2	41048482	0.855000	0.29742	0.560000	0.28344	0.123000	0.20343	2.020000	0.41010	1.104000	0.41587	0.459000	0.35465	ATC	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	250	0.40	1	A	NM_173489		41012725	41012725	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	179	28.40	71	SNP	0.408	T
HELB	92797	genome.wustl.edu	37	12	66725187	66725187	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:66725187G>A	ENST00000247815.4	+	12	2983	c.2924G>A	c.(2923-2925)aGt>aAt	p.S975N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	975					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TCTGGAGACAGTGGAGGACCC	0.542																																						dbGAP											0													76.0	63.0	67.0					12																	66725187		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2924G>A	12.37:g.66725187G>A	ENSP00000247815:p.Ser975Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.S975N	ENST00000247815.4	37	c.2924	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546616	0.27652	.	.	ENSG00000127311	ENST00000247815	T	0.13307	2.6	5.37	2.43	0.29744	.	1.308800	0.05021	N	0.472690	T	0.10680	0.0261	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.39143	-0.9628	9	.	.	.	-1.437	6.564	0.22501	0.1639:0.1472:0.6889:0.0	.	975	Q8NG08	HELB_HUMAN	N	975	ENSP00000247815:S975N	.	S	+	2	0	HELB	65011454	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	0.099000	0.15210	0.209000	0.20645	0.561000	0.74099	AGT	HELB	-	NULL	ENSG00000127311		0.542	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	93	0.00	0	G			66725187	66725187	+1	no_errors	ENST00000247815	ensembl	human	known	69_37n	missense	71	34.86	38	SNP	0.000	A
HEPH	9843	genome.wustl.edu	37	X	65409533	65409533	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:65409533T>C	ENST00000343002.2	+	5	1480	c.816T>C	c.(814-816)aaT>aaC	p.N272N	HEPH_ENST00000374727.3_Silent_p.N275N|HEPH_ENST00000441993.2_Silent_p.N275N|HEPH_ENST00000519389.1_Silent_p.N326N|HEPH_ENST00000336279.5_Silent_p.N5N|HEPH_ENST00000419594.1_Silent_p.N275N			Q9BQS7	HEPH_HUMAN	hephaestin	272	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCAATCAATGGCTTTGTTT	0.393																																						dbGAP											0													174.0	149.0	157.0					X																	65409533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.816T>C	X.37:g.65409533T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.N326	ENST00000343002.2	37	c.978		X																																																																																			HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.393	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	647	0.31	2	T	NM_138737		65409533	65409533	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	silent	417	32.20	198	SNP	1.000	C
HEXA	3073	genome.wustl.edu	37	15	72640419	72640419	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:72640419A>G	ENST00000268097.5	-	9	1546	c.1043T>C	c.(1042-1044)tTc>tCc	p.F348S	HEXA_ENST00000457859.2_Missense_Mutation_p.F156S|HEXA_ENST00000566304.1_Missense_Mutation_p.F359S|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.F348S|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.F175S	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	348			Missing (in GM2G1). {ECO:0000269|PubMed:7951261}.		carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGCTGCTTGAAGTCCTCACC	0.517																																						dbGAP											0													80.0	78.0	79.0					15																	72640419		2199	4297	6496	-	-	-	SO:0001583	missense	0			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1043T>C	15.37:g.72640419A>G	ENSP00000268097:p.Phe348Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub	p.F348S	ENST00000268097.5	37	c.1043	CCDS10243.1	15	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788230	0.49997	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95447	-3.71;-3.71;-3.71	5.31	2.65	0.31530	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.197998	0.44285	D	0.000464	D	0.93019	0.7778	L	0.59912	1.85	0.41562	D	0.988633	B;B;B;B;B	0.34241	0.158;0.11;0.158;0.194;0.444	B;B;B;B;B	0.37480	0.083;0.139;0.083;0.169;0.251	D	0.89524	0.3780	10	0.29301	T	0.29	-18.5782	10.5433	0.45045	0.6819:0.0:0.0:0.3181	.	175;359;175;228;348	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	S	348;156;175	ENSP00000268097:F348S;ENSP00000398026:F156S;ENSP00000416187:F175S	ENSP00000268097:F348S	F	-	2	0	HEXA	70427473	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.869000	0.27996	0.818000	0.34468	0.533000	0.62120	TTC	HEXA	-	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	ENSG00000213614		0.517	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXA	HGNC	protein_coding	OTTHUMT00000257317.2	187	0.00	0	A	NM_000520		72640419	72640419	-1	no_errors	ENST00000268097	ensembl	human	known	69_37n	missense	111	31.48	51	SNP	0.999	G
HLCS	3141	genome.wustl.edu	37	21	38309042	38309042	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:38309042C>T	ENST00000399120.1	-	5	1933	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	HLCS_ENST00000336648.4_Missense_Mutation_p.A235T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	235					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAAAGATAGGCCATGAACTTC	0.542																																						dbGAP											0													73.0	76.0	75.0					21																	38309042		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.703G>A	21.37:g.38309042C>T	ENSP00000382071:p.Ala235Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.A235T	ENST00000399120.1	37	c.703	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911457	0.33721	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98090	-4.71;-4.71	5.91	5.02	0.67125	.	0.388876	0.30762	N	0.008928	D	0.93684	0.7982	L	0.37561	1.115	0.35540	D	0.802997	B;B	0.18461	0.028;0.006	B;B	0.14023	0.01;0.003	D	0.89831	0.3996	10	0.15499	T	0.54	.	8.1441	0.31102	0.0:0.7606:0.0:0.2394	.	235;235	B2RAH1;P50747	.;BPL1_HUMAN	T	235	ENSP00000382071:A235T;ENSP00000338387:A235T	ENSP00000338387:A235T	A	-	1	0	HLCS	37230912	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	1.693000	0.37742	2.793000	0.96121	0.655000	0.94253	GCC	HLCS	-	NULL	ENSG00000159267		0.542	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	88	0.00	0	C			38309042	38309042	-1	no_errors	ENST00000336648	ensembl	human	known	69_37n	missense	68	32.35	33	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186083127	186083127	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:186083127delG	ENST00000271588.4	+	73	11377	c.11148delG	c.(11146-11148)aagfs	p.K3716fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.K3716fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3716	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAACATAAAGGGGGGCCCCC	0.403																																						dbGAP											0													118.0	138.0	131.0					1																	186083127		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11148delG	1.37:g.186083127delG	ENSP00000271588:p.Lys3716fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G3718fs	ENST00000271588.4	37	c.11148	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	96	0.00	0	G	NM_031935		186083127	186083127	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	frame_shift_del	236	16.49	48	DEL	0.562	-
HMCN1	83872	genome.wustl.edu	37	1	186114602	186114602	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:186114602G>A	ENST00000271588.4	+	92	14563	c.14334G>A	c.(14332-14334)atG>atA	p.M4778I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M4778I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4778	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGGGCAGATGCGGCGGTACC	0.552																																						dbGAP											0													98.0	89.0	92.0					1																	186114602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14334G>A	1.37:g.186114602G>A	ENSP00000271588:p.Met4778Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.M4778I	ENST00000271588.4	37	c.14334	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565588	0.65651	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.52295	0.67;0.67	5.44	5.44	0.79542	.	0.108216	0.85682	D	0.000000	T	0.37100	0.0991	L	0.28694	0.88	0.52501	D	0.999956	B	0.30146	0.27	B	0.25291	0.059	T	0.30880	-0.9963	10	0.72032	D	0.01	.	14.4742	0.67535	0.0725:0.0:0.9275:0.0	.	4778	Q96RW7	HMCN1_HUMAN	I	4778	ENSP00000271588:M4778I;ENSP00000356462:M4778I	ENSP00000271588:M4778I	M	+	3	0	HMCN1	184381225	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.432000	0.59922	2.551000	0.86045	0.655000	0.94253	ATG	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	172	0.00	0	G	NM_031935		186114602	186114602	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	298	18.58	68	SNP	1.000	A
HNRNPD	3184	genome.wustl.edu	37	4	83276431	83276431	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:83276431delA	ENST00000313899.7	-	8	1376				HNRNPD_ENST00000541060.1_3'UTR|HNRNPD_ENST00000353341.4_Intron|HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000543098.1_Intron|HNRNPD_ENST00000352301.4_Intron	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)						circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TGTAAATGACAAAAAAAAACT	0.303																																						dbGAP											0									,,,	13,2066,6,2181		0,11,0,2,494,0,1067,2,2,555	100.0	92.0	94.0		,,,	-9.3	0.0	4	dbSNP_130	94	4,1950,21,6277		0,4,0,0,214,0,1518,4,13,2373	no	intron,intron,intron,intron	HNRNPD	NM_031370.2,NM_031369.2,NM_002138.3,NM_001003810.1	,,,	0,15,0,2,708,0,2585,6,15,2928	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		23.9336,48.8748,32.4333	,,,	,,,	83276431	17,4016,27,8458	692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.1065+25T>-	4.37:g.83276431delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	RNA	DEL	-	NULL	ENST00000313899.7	37	NULL	CCDS3592.1	4																																																																																			HNRNPD	-	-	ENSG00000138668		0.303	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPD	HGNC	protein_coding	OTTHUMT00000252630.2	201	0.00	0	A	NM_031370		83276431	83276431	-1	no_errors	ENST00000508119	ensembl	human	known	69_37n	rna	138	40.25	95	DEL	0.000	-
HNRNPU	3192	genome.wustl.edu	37	1	245019248	245019248	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:245019248G>A	ENST00000283179.9	-	11	2288	c.2125C>T	c.(2125-2127)Cgt>Tgt	p.R709C	HNRNPU_ENST00000444376.2_Missense_Mutation_p.R690C|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	709	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AATCCTCCACGTCCTCTATGG	0.403																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													186.0	175.0	179.0					1																	245019248		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2125C>T	1.37:g.245019248G>A	ENSP00000283179:p.Arg709Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.R709C	ENST00000283179.9	37	c.2125	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998428	0.54147	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.55930	0.49;0.53	5.7	5.7	0.88788	.	0.049640	0.85682	D	0.000000	T	0.71888	0.3393	M	0.68317	2.08	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.67231	0.95;0.893;0.749	T	0.73248	-0.4043	10	0.72032	D	0.01	-8.9443	19.8463	0.96708	0.0:0.0:1.0:0.0	.	690;709;433	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	C	690;709;634	ENSP00000393151:R690C;ENSP00000283179:R709C	ENSP00000283179:R709C	R	-	1	0	HNRNPU	243085871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.108000	0.77055	2.688000	0.91661	0.655000	0.94253	CGT	HNRNPU	-	NULL	ENSG00000153187		0.403	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	436	0.00	0	G	NM_031844		245019248	245019248	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	missense	825	18.52	188	SNP	0.995	A
HNRNPUL1	11100	genome.wustl.edu	37	19	41807551	41807551	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:41807551delA	ENST00000392006.3	+	11	1802	c.1629delA	c.(1627-1629)atafs	p.I543fs	HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.I543fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.I454fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.I443fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.I429fs|HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.I443fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.I443fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	543	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCGAACAATAAAGCGAACCG	0.483																																						dbGAP											0													145.0	123.0	130.0					19																	41807551		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1629delA	19.37:g.41807551delA	ENSP00000375863:p.Ile543fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.K544fs	ENST00000392006.3	37	c.1629	CCDS12576.1	19																																																																																			HNRNPUL1	-	NULL	ENSG00000105323		0.483	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	224	0.00	0	A	NM_144732, NM_007040		41807551	41807551	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	frame_shift_del	160	35.06	88	DEL	1.000	-
HOXA5	3202	genome.wustl.edu	37	7	27182903	27182903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:27182903delG	ENST00000222726.3	-	1	384	c.324delC	c.(322-324)cccfs	p.P108fs	HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'Flank|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	108					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						TGCCGGGCGAGGGGGCCACGG	0.736																																					Colon(119;75 2200 7557 42868)	dbGAP											0													11.0	13.0	12.0					7																	27182903		2163	4217	6380	-	-	-	SO:0001589	frameshift_variant	0				CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.324delC	7.37:g.27182903delG	ENSP00000222726:p.Pro108fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D179|O43367|Q96CY6	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S109fs	ENST00000222726.3	37	c.324	CCDS5406.1	7																																																																																			HOXA5	-	NULL	ENSG00000106004		0.736	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA5	HGNC	protein_coding	OTTHUMT00000358705.1	36	0.00	0	G			27182903	27182903	-1	no_errors	ENST00000222726	ensembl	human	known	69_37n	frame_shift_del	22	35.29	12	DEL	0.612	-
HOXD8	3234	genome.wustl.edu	37	2	176995417	176995417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:176995417delC	ENST00000313173.4	+	1	950	c.323delC	c.(322-324)gccfs	p.A108fs	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000544999.1_Frame_Shift_Del_p.A108fs|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	108					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TACCAGGCCGccccccctcct	0.741																																						dbGAP											0													23.0	30.0	27.0					2																	176995417		1915	3930	5845	-	-	-	SO:0001589	frameshift_variant	0				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.323delC	2.37:g.176995417delC	ENSP00000315949:p.Ala108fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P110fs	ENST00000313173.4	37	c.323	CCDS2268.1	2																																																																																			HOXD8	-	NULL	ENSG00000175879		0.741	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	HGNC	protein_coding	OTTHUMT00000255694.1	12	0.00	0	C			176995417	176995417	+1	no_errors	ENST00000313173	ensembl	human	known	69_37n	frame_shift_del	9	30.77	4	DEL	1.000	-
HRC	3270	genome.wustl.edu	37	19	49654782	49654782	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:49654782G>T	ENST00000252825.4	-	5	2241	c.2055C>A	c.(2053-2055)tcC>tcA	p.S685S	HRC_ENST00000595625.1_Silent_p.S662S	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	685					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACTGATAAAGGGACGAGGAGA	0.483																																					Melanoma(37;75 1097 24567 25669 30645)	dbGAP											0													75.0	75.0	75.0					19																	49654782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.2055C>A	19.37:g.49654782G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q504Y6	Silent	SNP	pfam_Hist_rich_Ca-bd	p.S685	ENST00000252825.4	37	c.2055	CCDS12759.1	19																																																																																			HRC	-	NULL	ENSG00000130528		0.483	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	192	0.00	0	G	NM_002152		49654782	49654782	-1	no_errors	ENST00000252825	ensembl	human	known	69_37n	silent	129	33.85	66	SNP	0.805	T
HS6ST2	90161	genome.wustl.edu	37	X	132091143	132091143	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:132091143C>T	ENST00000370836.2	-	3	1055	c.640G>A	c.(640-642)Gac>Aac	p.D214N	HS6ST2_ENST00000521489.1_Missense_Mutation_p.D214N|HS6ST2_ENST00000370833.2_Missense_Mutation_p.D68N	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	214					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CGCAGGAGGTCGCCGCGGGTG	0.647																																						dbGAP											0													32.0	38.0	36.0					X																	132091143		2145	4228	6373	-	-	-	SO:0001583	missense	0			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.640G>A	X.37:g.132091143C>T	ENSP00000359873:p.Asp214Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D214N	ENST00000370836.2	37	c.640	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971221	0.92919	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833;ENST00000319809	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.31	5.31	0.75309	.	0.096942	0.64402	D	0.000001	T	0.46483	0.1395	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.994	P;P	0.57911	0.829;0.643	T	0.45440	-0.9261	10	0.46703	T	0.11	-12.8894	16.5431	0.84407	0.0:1.0:0.0:0.0	.	214;214	Q96MM7;E9PDY5	H6ST2_HUMAN;.	N	68;214;214;68;55	ENSP00000359874:D68N;ENSP00000359873:D214N;ENSP00000429473:D214N;ENSP00000359870:D68N	ENSP00000324617:D55N	D	-	1	0	HS6ST2	131918825	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.361000	0.79497	2.212000	0.71576	0.529000	0.55759	GAC	HS6ST2	-	NULL	ENSG00000171004		0.647	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	78	0.00	0	C	NM_147174		132091143	132091143	-1	no_errors	ENST00000521489	ensembl	human	known	69_37n	missense	51	33.77	26	SNP	1.000	T
HSPA6	3310	genome.wustl.edu	37	1	161496286	161496286	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:161496286A>G	ENST00000309758.4	+	1	2251	c.1838A>G	c.(1837-1839)tAt>tGt	p.Y613C	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	613					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCAGGCTCTATGGGGGGCCT	0.617																																						dbGAP											0													12.0	14.0	13.0					1																	161496286		2200	4297	6497	-	-	-	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1838A>G	1.37:g.161496286A>G	ENSP00000310219:p.Tyr613Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.Y613C	ENST00000309758.4	37	c.1838	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.472359	0.26423	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.17054	2.3	3.69	-1.39	0.08997	.	0.000000	0.30142	U	0.010308	T	0.39963	0.1098	H	0.98542	4.26	0.35767	D	0.820623	D	0.76494	0.999	D	0.73708	0.981	T	0.44390	-0.9331	10	0.87932	D	0	.	7.8334	0.29355	0.5858:0.0:0.4142:0.0	.	613	P17066	HSP76_HUMAN	C	613;589	ENSP00000310219:Y613C	ENSP00000310219:Y613C	Y	+	2	0	HSPA6	159762910	0.998000	0.40836	0.247000	0.24249	0.435000	0.31806	2.298000	0.43602	-0.538000	0.06281	-0.332000	0.08345	TAT	HSPA6	-	pfam_Hsp_70_fam	ENSG00000173110		0.617	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	47	0.00	0	A	NM_002155		161496286	161496286	+1	no_errors	ENST00000309758	ensembl	human	known	69_37n	missense	82	13.54	13	SNP	1.000	G
HSPA8	3312	genome.wustl.edu	37	11	122929470	122929470	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:122929470T>C	ENST00000532636.1	-	7	1511	c.1392A>G	c.(1390-1392)atA>atG	p.I464M	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.I464M|HSPA8_ENST00000533540.1_Missense_Mutation_p.I318M|HSPA8_ENST00000526110.1_Missense_Mutation_p.I445M|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.I464M|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.I228M|HSPA8_ENST00000526862.1_5'Flank|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	464					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTGCAGGAGGTATGCCTGTGA	0.443																																					Colon(21;486 594 5900 6733 14272)	dbGAP											0													94.0	84.0	88.0					11																	122929470		2202	4299	6501	-	-	-	SO:0001583	missense	0			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1392A>G	11.37:g.122929470T>C	ENSP00000437125:p.Ile464Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I464M	ENST00000532636.1	37	c.1392	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646054	0.67358	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.01484	4.84;4.84;4.84;4.84;4.84;4.84;4.84;4.84	4.3	1.55	0.23275	.	0.113642	0.56097	N	0.000036	T	0.17746	0.0426	H	0.99675	4.695	0.58432	D	0.999999	D;D	0.63046	0.992;0.992	D;D	0.69824	0.966;0.966	T	0.01894	-1.1252	10	0.87932	D	0	-13.4156	7.0309	0.24967	0.1391:0.0:0.5423:0.3186	.	464;464	Q53GZ6;P11142	.;HSP7C_HUMAN	M	464;318;464;464;228;445;55;16	ENSP00000437125:I464M;ENSP00000437189:I318M;ENSP00000432083:I464M;ENSP00000227378:I464M;ENSP00000433316:I228M;ENSP00000433584:I445M;ENSP00000435908:I55M;ENSP00000435019:I16M	ENSP00000227378:I464M	I	-	3	3	HSPA8	122434680	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	0.541000	0.23207	0.581000	0.29539	0.459000	0.35465	ATA	HSPA8	-	pfam_Hsp_70_fam	ENSG00000109971		0.443	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	272	0.00	0	T			122929470	122929470	-1	no_errors	ENST00000534624	ensembl	human	known	69_37n	missense	166	41.11	118	SNP	1.000	C
HSPG2	3339	genome.wustl.edu	37	1	22174392	22174392	+	Intron	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:22174392G>T	ENST00000374695.3	-	60	7953				HSPG2_ENST00000430507.1_Intron	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATGGCACCGGGGACCTCTCTG	0.642																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7873+58C>A	1.37:g.22174392G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S20	ENST00000374695.3	37	c.60	CCDS30625.1	1																																																																																			HSPG2	-	NULL	ENSG00000142798		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	106	0.00	0	G	NM_005529		22174392	22174392	-1	no_start_codon:no_stop_codon	ENST00000453796	ensembl	human	known	69_37n	silent	67	31.63	31	SNP	0.000	T
HUS1	3364	genome.wustl.edu	37	7	48016405	48016405	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:48016405C>T	ENST00000258774.5	-	4	410	c.387G>A	c.(385-387)gtG>gtA	p.V129V	HUS1_ENST00000432325.1_Silent_p.V108V	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	129					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TGTCATGGGTCACAATGCGGC	0.408								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	dbGAP											0													177.0	163.0	168.0					7																	48016405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.387G>A	7.37:g.48016405C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFI9	Missense_Mutation	SNP	pfam_Hus1	p.D50N	ENST00000258774.5	37	c.148	CCDS34635.1	7																																																																																			HUS1	-	pfam_Hus1	ENSG00000136273		0.408	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUS1	HGNC	protein_coding	OTTHUMT00000340952.1	208	0.00	0	C	NM_004507		48016405	48016405	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000442024	ensembl	human	known	69_37n	missense	169	38.10	104	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53616683	53616683	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:53616683C>T	ENST00000342160.3	-	35	4742	c.4285G>A	c.(4285-4287)Gac>Aac	p.D1429N	HUWE1_ENST00000218328.8_Missense_Mutation_p.D1429N|HUWE1_ENST00000262854.6_Missense_Mutation_p.D1429N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1429					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAACGGGTCAGCATCCTGG	0.512																																						dbGAP											0													179.0	137.0	151.0					X																	53616683		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4285G>A	X.37:g.53616683C>T	ENSP00000340648:p.Asp1429Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.D1429N	ENST00000342160.3	37	c.4285	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072295	0.76415	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.45668	1.22;1.22;0.89	5.93	5.93	0.95920	Armadillo-like helical (1);	0.058003	0.64402	D	0.000003	T	0.29093	0.0723	N	0.14661	0.345	0.45580	D	0.998529	B;P	0.37276	0.079;0.589	B;B	0.32677	0.035;0.15	T	0.13548	-1.0505	10	0.54805	T	0.06	.	17.9436	0.89032	0.0:1.0:0.0:0.0	.	1429;1429	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	N	1429	ENSP00000340648:D1429N;ENSP00000262854:D1429N;ENSP00000218328:D1429N	ENSP00000218328:D1429N	D	-	1	0	HUWE1	53633408	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.461000	0.66699	2.513000	0.84729	0.600000	0.82982	GAC	HUWE1	-	NULL	ENSG00000086758		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	576	0.00	0	C	XM_497119		53616683	53616683	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	364	37.82	222	SNP	1.000	T
HYAL3	8372	genome.wustl.edu	37	3	50330902	50330902	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:50330902G>A	ENST00000336307.1	-	4	1301	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	HYAL3_ENST00000415204.1_Silent_p.G94G|IFRD2_ENST00000429673.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000359051.3_Silent_p.G313G|HYAL3_ENST00000513170.1_Silent_p.G64G|HYAL3_ENST00000450982.1_Silent_p.G313G	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	343					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACATAGGGGCCCAAGGTGT	0.577																																						dbGAP											0													51.0	52.0	51.0					3																	50330902		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.1029C>T	3.37:g.50330902G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.G343	ENST00000336307.1	37	c.1029	CCDS2815.1	3																																																																																			HYAL3	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	ENSG00000186792		0.577	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	HYAL3	HGNC	protein_coding	OTTHUMT00000346664.1	74	0.00	0	G	NM_003549		50330902	50330902	-1	no_errors	ENST00000336307	ensembl	human	known	69_37n	silent	23	58.93	33	SNP	0.802	A
HYDIN	54768	genome.wustl.edu	37	16	71007882	71007882	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:71007882C>A	ENST00000393567.2	-	34	5229	c.5079G>T	c.(5077-5079)aaG>aaT	p.K1693N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1693					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAATGGTCACCTTGGCTTGGA	0.478																																						dbGAP											0													34.0	32.0	33.0					16																	71007882		1840	4082	5922	-	-	-	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5079G>T	16.37:g.71007882C>A	ENSP00000377197:p.Lys1693Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.K1692N	ENST00000393567.2	37	c.5076	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	3.807	-0.040468	0.07497	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00808	5.67	4.82	0.361	0.16107	.	1.647880	0.04405	U	0.364906	T	0.00724	0.0024	N	0.17474	0.49	0.49213	D	0.999763	B	0.09022	0.002	B	0.12156	0.007	T	0.43845	-0.9366	10	0.11485	T	0.65	.	2.3487	0.04278	0.3725:0.3642:0.121:0.1423	.	1692	F8WD23	.	N	1693;1692	ENSP00000377197:K1693N	ENSP00000313052:K1692N	K	-	3	2	HYDIN	69565383	0.001000	0.12720	0.811000	0.32455	0.733000	0.41908	-0.733000	0.04898	-0.078000	0.12730	-0.444000	0.05651	AAG	HYDIN	-	NULL	ENSG00000157423		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	287	0.00	0	C			71007882	71007882	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	missense	379	11.21	48	SNP	0.242	A
IARS2	55699	genome.wustl.edu	37	1	220284183	220284183	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:220284183T>C	ENST00000302637.5	+	11	1487	c.1383T>C	c.(1381-1383)caT>caC	p.H461H	IARS2_ENST00000366922.1_Silent_p.H389H	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	461					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AATTGGTGCATAGCTATCCGT	0.363																																						dbGAP											0													98.0	98.0	98.0					1																	220284183		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1383T>C	1.37:g.220284183T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.H461	ENST00000302637.5	37	c.1383	CCDS1523.1	1																																																																																			IARS2	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.363	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		182	0.00	0	T	NM_018060		220284183	220284183	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	silent	360	16.28	70	SNP	1.000	C
IDS	3423	genome.wustl.edu	37	X	148577173	148577173	+	Intron	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:148577173A>G	ENST00000340855.6	-	6	1089				IDS_ENST00000370441.4_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000490775.1_Intron|IDS_ENST00000370443.4_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCATCCGCTATAGCTTGCCT	0.478																																						dbGAP											0													36.0	28.0	31.0					X																	148577173		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.879+703T>C	X.37:g.148577173A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT4|Q14604|Q9BRM3	RNA	SNP	-	NULL	ENST00000340855.6	37	NULL	CCDS14685.1	X																																																																																			IDS	-	-	ENSG00000010404		0.478	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	133	0.00	0	A			148577173	148577173	-1	no_errors	ENST00000466019	ensembl	human	known	69_37n	rna	108	28.29	43	SNP	0.000	G
IER3	8870	genome.wustl.edu	37	6	30711813	30711813	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:30711813delG	ENST00000259874.5	-	2	406	c.371delC	c.(370-372)cctfs	p.P124fs	XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000470643.1_5'Flank|IER3_ENST00000376377.2_3'UTR|FLOT1_ENST00000376389.3_5'Flank|FLOT1_ENST00000456573.2_5'Flank	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	124					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GGCGGACACAGGGGTGGGCGC	0.642																																						dbGAP											0													33.0	38.0	36.0					6																	30711813		2200	4300	6500	-	-	-	SO:0001589	frameshift_variant	0			AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.371delC	6.37:g.30711813delG	ENSP00000259874:p.Pro124fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SU30|Q92691|Q93044	Frame_Shift_Del	DEL	NULL	p.P124fs	ENST00000259874.5	37	c.371	CCDS4689.1	6																																																																																			IER3	-	NULL	ENSG00000137331		0.642	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER3	HGNC	protein_coding	OTTHUMT00000076578.2	214	0.00	0	G			30711813	30711813	-1	no_errors	ENST00000259874	ensembl	human	known	69_37n	frame_shift_del	120	32.07	59	DEL	0.001	-
IFI16	3428	genome.wustl.edu	37	1	158985711	158985711	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:158985711T>C	ENST00000295809.7	+	3	570	c.315T>C	c.(313-315)acT>acC	p.T105T	IFI16_ENST00000368131.4_Silent_p.T105T|IFI16_ENST00000368132.3_Silent_p.T105T|IFI16_ENST00000448393.2_Silent_p.T105T|IFI16_ENST00000359709.3_Silent_p.T105T|IFI16_ENST00000340979.6_Silent_p.T105T|IFI16_ENST00000430894.2_Silent_p.T109T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	105	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGGATGCTACTTCACCTGCAC	0.468																																						dbGAP											0													93.0	83.0	86.0					1																	158985711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.315T>C	1.37:g.158985711T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T105	ENST00000295809.7	37	c.315		1																																																																																			IFI16	-	NULL	ENSG00000163565		0.468	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	145	0.00	0	T	NM_005531		158985711	158985711	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	silent	317	17.23	66	SNP	0.000	C
IFI44	10561	genome.wustl.edu	37	1	79116277	79116277	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:79116277C>A	ENST00000370747.4	+	2	482	c.397C>A	c.(397-399)Ctt>Att	p.L133I	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	133					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATGGAAAATCTTGGACTTGC	0.333																																						dbGAP											0													59.0	63.0	62.0					1																	79116277		2201	4299	6500	-	-	-	SO:0001583	missense	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.397C>A	1.37:g.79116277C>A	ENSP00000359783:p.Leu133Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc	p.L133I	ENST00000370747.4	37	c.397	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184626	0.21870	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.42131	0.98;1.72	3.27	2.32	0.28847	TLDc (1);	0.271374	0.30193	N	0.010192	T	0.27832	0.0685	L	0.43923	1.385	0.19300	N	0.99997	D;P	0.55385	0.971;0.943	P;P	0.54544	0.755;0.473	T	0.03503	-1.1030	10	0.46703	T	0.11	.	7.5858	0.27991	0.2786:0.7214:0.0:0.0	.	133;133	B7ZB11;Q8TCB0	.;IFI44_HUMAN	I	133;9	ENSP00000359783:L133I;ENSP00000399477:L9I	ENSP00000359783:L133I	L	+	1	0	IFI44	78888865	0.014000	0.17966	0.008000	0.14137	0.014000	0.08584	0.307000	0.19296	0.886000	0.36113	0.467000	0.42956	CTT	IFI44	-	pfam_TLDc	ENSG00000137965		0.333	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	44	0.00	0	C	NM_006417		79116277	79116277	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	missense	34	40.35	23	SNP	0.010	A
IFI16	3428	genome.wustl.edu	37	1	159002342	159002342	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:159002342A>G	ENST00000295809.7	+	7	1445	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	IFI16_ENST00000368131.4_Missense_Mutation_p.N397S|IFI16_ENST00000368132.3_Missense_Mutation_p.N397S|IFI16_ENST00000448393.2_Missense_Mutation_p.N397S|IFI16_ENST00000359709.3_Missense_Mutation_p.N341S|IFI16_ENST00000340979.6_Missense_Mutation_p.N397S|IFI16_ENST00000430894.2_Missense_Mutation_p.N345S			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	397					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCGAGAAACAATGACCCCAAG	0.423																																						dbGAP											0													91.0	86.0	87.0					1																	159002342		2203	4300	6503	-	-	-	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1190A>G	1.37:g.159002342A>G	ENSP00000295809:p.Asn397Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.N397S	ENST00000295809.7	37	c.1190		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.644|0.644	-0.812319|-0.812319	0.02798|0.02798	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.04551	.|3.6;3.6;3.61;3.61;3.64	2.14|2.14	-2.02|-2.02	0.07388|0.07388	.|.	.|.	.|.	.|.	.|.	T|T	0.00815|0.00815	0.0027|0.0027	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32365	.|0.207;0.367	.|B;B	.|0.34931	.|0.013;0.192	T|T	0.44298|0.44298	-0.9337|-0.9337	5|9	.|0.08381	.|T	.|0.77	.|.	2.9043|2.9043	0.05715|0.05715	0.4086:0.2555:0.3359:0.0|0.4086:0.2555:0.3359:0.0	.|.	.|345;397	.|E7EPR3;Q16666-2	.|.;.	V|S	218|397;397;397;397;345	.|ENSP00000295809:N397S;ENSP00000342741:N397S;ENSP00000357113:N397S;ENSP00000357114:N397S;ENSP00000394935:N345S	.|ENSP00000295809:N397S	M|N	+|+	1|2	0|0	IFI16|IFI16	157268966|157268966	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.342000|-1.342000	0.02645|0.02645	-0.514000|-0.514000	0.06488|0.06488	0.374000|0.374000	0.22700|0.22700	ATG|AAT	IFI16	-	NULL	ENSG00000163565		0.423	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	219	0.45	1	A	NM_005531		159002342	159002342	+1	no_errors	ENST00000295809	ensembl	human	known	69_37n	missense	409	17.71	88	SNP	0.000	G
IFIT1	3434	genome.wustl.edu	37	10	91162830	91162830	+	Silent	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:91162830T>G	ENST00000371804.3	+	2	965	c.798T>G	c.(796-798)tcT>tcG	p.S266S	IFIT1_ENST00000546318.1_Silent_p.S235S|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	266					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GAAAAGGCTCTGTGGATAAAG	0.428																																						dbGAP											0													96.0	99.0	98.0					10																	91162830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.798T>G	10.37:g.91162830T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S266	ENST00000371804.3	37	c.798	CCDS31243.1	10																																																																																			IFIT1	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000185745		0.428	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	50	0.00	0	T	NM_001548		91162830	91162830	+1	no_errors	ENST00000371804	ensembl	human	known	69_37n	silent	37	40.32	25	SNP	0.000	G
IGFN1	91156	genome.wustl.edu	37	1	201181672	201181672	+	Missense_Mutation	SNP	C	C	T	rs141855456	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:201181672C>T	ENST00000335211.4	+	12	7781	c.7651C>T	c.(7651-7653)Cgg>Tgg	p.R2551W	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGATATGAACGGGACATCTG	0.587													c|||	2	0.000399361	0.0015	0.0	5008	,	,		16788	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													26.0	28.0	27.0					1																	201181672		692	1591	2283	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7651C>T	1.37:g.201181672C>T	ENSP00000334714:p.Arg2551Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R2551W	ENST00000335211.4	37	c.7651	CCDS53455.1	1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	9.997	1.232491	0.22626	.	.	ENSG00000163395	ENST00000335211	T	0.52983	0.64	3.51	-3.49	0.04724	.	.	.	.	.	T	0.19046	0.0457	N	0.08118	0	0.18873	N	0.999989	.	.	.	.	.	.	T	0.18903	-1.0322	6	.	.	.	.	2.7997	0.05411	0.2159:0.4359:0.2385:0.1097	.	.	.	.	W	2551	ENSP00000334714:R2551W	.	R	+	1	2	IGFN1	199448295	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-1.122000	0.03267	-0.388000	0.07797	0.298000	0.19748	CGG	IGFN1	-	NULL	ENSG00000163395		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		112	0.00	0	C	NM_178275		201181672	201181672	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	220	17.23	46	SNP	0.000	T
IGHV1OR21-1	390530	genome.wustl.edu	37	21	10862766	10862766	+	RNA	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:10862766T>C	ENST00000559480.1	+	0	62							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CAGTCCCAGGTACAGCTGGTG	0.552																																						dbGAP											0													193.0	186.0	189.0					21																	10862766		1937	4153	6090	-	-	-			0					21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862766T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V21A	ENST00000559480.1	37	c.62		21																																																																																			IGHV1OR21-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000169861		0.552	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IGHV1OR21-1	HGNC	IG_V_gene		651	0.15	1	T	NG_011680		10862766	10862766	+1	no_errors	ENST00000559480	ensembl	human	known	69_37n	missense	499	18.17	111	SNP	0.740	C
IGHV3-48	28424	genome.wustl.edu	37	14	106994247	106994247	+	RNA	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:106994247C>A	ENST00000390624.2	-	0	99									immunoglobulin heavy variable 3-48																		CAAGGAAAACCCAGCACAGCC	0.468																																						dbGAP											0													193.0	181.0	185.0					14																	106994247		1894	4117	6011	-	-	-			0			M99675		14q32.33	2012-02-08			ENSG00000211964	ENSG00000211964		"""Immunoglobulins / IGH locus"""	5606	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151959		14.37:g.106994247C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.W7C	ENST00000390624.2	37	c.21		14																																																																																			IGHV3-48	-	NULL	ENSG00000211964		0.468	IGHV3-48-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-48	HGNC	IG_V_gene	OTTHUMT00000324605.1	695	0.00	0	C	NG_001019		106994247	106994247	-1	no_stop_codon	ENST00000390624	ensembl	human	known	69_37n	missense	469	37.17	278	SNP	0.002	A
IGKV3D-15	28875	genome.wustl.edu	37	2	90154041	90154041	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:90154041G>A	ENST00000417279.2	+	0	177									immunoglobulin kappa variable 3D-15 (gene/pseudogene)																		ACCCTCTCCTGCAGGGCCAGT	0.542																																						dbGAP											0													1.0	1.0	1.0					2																	90154041		456	1395	1851	-	-	-			0			X72815		2p11.2	2012-02-08	2008-09-12		ENSG00000224041	ENSG00000224041		"""Immunoglobulins / IGK locus"""	5824	other	immunoglobulin gene			"""immunoglobulin kappa variable 3D-15"""				Standard	NG_000833		Approved				OTTHUMG00000151568		2.37:g.90154041G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.C43Y	ENST00000417279.2	37	c.128		2																																																																																			IGKV3D-15	-	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000224041		0.542	IGKV3D-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-15	HGNC	IG_V_gene	OTTHUMT00000323143.2	70	0.00	0	G	NG_000833		90154041	90154041	+1	no_stop_codon	ENST00000417279	ensembl	human	known	69_37n	missense	55	36.78	32	SNP	1.000	A
IGKV1D-42	28892	genome.wustl.edu	37	2	90229434	90229434	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:90229434G>A	ENST00000390278.2	+	0	274									immunoglobulin kappa variable 1D-42 (non-functional)																		TCGAGGTTCAGTGGCAGGGGA	0.483																																						dbGAP											0													64.0	68.0	66.0					2																	90229434		1874	4096	5970	-	-	-			0			X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229434G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S85N	ENST00000390278.2	37	c.254		2																																																																																			IGKV1D-42	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211633		0.483	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV1D-42	HGNC	IG_V_gene	OTTHUMT00000323148.1	235	0.42	1	G	NG_000833		90229434	90229434	+1	no_stop_codon	ENST00000390278	ensembl	human	known	69_37n	missense	146	40.89	101	SNP	1.000	A
IGLV3-32	28787	genome.wustl.edu	37	22	22937278	22937278	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:22937278G>A	ENST00000390303.2	+	0	135									immunoglobulin lambda variable 3-32 (non-functional)																		CTGTGGCCTTGGGACAAATGG	0.582											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													59.0	60.0	59.0					22																	22937278		1986	4170	6156	-	-	-			0			Z73645		22q11.2	2012-02-08	2008-09-15		ENSG00000211657	ENSG00000211657		"""Immunoglobulins / IGL locus"""	5914	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-32"""				Standard	NG_000002		Approved				OTTHUMG00000151166		22.37:g.22937278G>A		Somatic	759	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L32	ENST00000390303.2	37	c.96		22																																																																																			IGLV3-32	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211657		0.582	IGLV3-32-001	KNOWN	non_canonical_conserved|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV3-32	HGNC	IG_V_gene	OTTHUMT00000321635.2	190	0.00	0	G	NG_000002		22937278	22937278	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390303	ensembl	human	known	69_37n	silent	124	35.42	68	SNP	0.010	A
IGLV3-32	28787	genome.wustl.edu	37	22	22937402	22937403	+	RNA	DNP	AG	AG	GA			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A|G	A|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:22937402_22937403AG>GA	ENST00000390303.2	+	0	259_260									immunoglobulin lambda variable 3-32 (non-functional)																		CCGGCCCTCAAGGATCCCTGAG	0.559											OREG0026367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-			0			Z73645		22q11.2	2012-02-08	2008-09-15		ENSG00000211657	ENSG00000211657		"""Immunoglobulins / IGL locus"""	5914	other	immunoglobulin gene			"""immunoglobulin lambda variable 3-32"""				Standard	NG_000002		Approved				OTTHUMG00000151166	Exception_encountered	22.37:g.22937402_22937403delinsGA		Somatic	759	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R74G|p.R74K	ENST00000390303.2	37	c.220|c.221		22																																																																																			IGLV3-32	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211657		0.559	IGLV3-32-001	KNOWN	non_canonical_conserved|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV3-32	HGNC	IG_V_gene	OTTHUMT00000321635.2	187|189	0.00	0	A|G	NG_000002		22937402|22937403	22937402|22937403	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390303	ensembl	human	known	69_37n	missense	126|125	35.38|35.90	69|70	SNP	0.972|0.971	G|A
IGSF9	57549	genome.wustl.edu	37	1	159904599	159904599	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:159904599G>A	ENST00000368094.1	-	7	884	c.687C>T	c.(685-687)atC>atT	p.I229I	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Silent_p.I229I	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	229	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGCACCACGATGACTGGGG	0.582																																						dbGAP											0													83.0	73.0	77.0					1																	159904599		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.687C>T	1.37:g.159904599G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I229	ENST00000368094.1	37	c.687	CCDS44254.1	1																																																																																			IGSF9	-	pfam_Ig_I-set,pfscan_Ig-like	ENSG00000085552		0.582	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	145	0.00	0	G	NM_020789		159904599	159904599	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	silent	290	17.98	64	SNP	1.000	A
IKBKE	9641	genome.wustl.edu	37	1	206647810	206647810	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:206647810A>G	ENST00000367120.3	+	4	597	c.224A>G	c.(223-225)gAg>gGg	p.E75G	IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000463979.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCGGTGGAGGAGACGGTAGGT	0.552																																						dbGAP											0													69.0	50.0	57.0					1																	206647810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.224A>G	1.37:g.206647810A>G	ENSP00000356087:p.Glu75Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	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	p.E75G	ENST00000367120.3	37	c.224	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763983	0.69878	.	.	ENSG00000143466	ENST00000367120	T	0.67865	-0.29	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84754	0.5542	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88254	0.2918	10	0.87932	D	0	.	15.1663	0.72828	1.0:0.0:0.0:0.0	.	75	Q14164	IKKE_HUMAN	G	75	ENSP00000356087:E75G	ENSP00000356087:E75G	E	+	2	0	IKBKE	204714433	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	9.339000	0.96797	1.988000	0.58038	0.459000	0.35465	GAG	IKBKE	-	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	ENSG00000143466		0.552	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	96	0.00	0	A			206647810	206647810	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	missense	203	16.73	41	SNP	1.000	G
IKBKE	9641	genome.wustl.edu	37	1	206649650	206649650	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:206649650G>A	ENST00000367120.3	+	6	858	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	IKBKE_ENST00000537984.1_Missense_Mutation_p.R77Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGCGCTGCCCGGGAGCTGGAT	0.607																																						dbGAP											0													127.0	114.0	118.0					1																	206649650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.485G>A	1.37:g.206649650G>A	ENSP00000356087:p.Arg162Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT78|Q3B754|Q3KR43|Q5JTS6	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	p.R162Q	ENST00000367120.3	37	c.485	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.405503	0.96051	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.50813	0.73;1.62	5.41	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	M	0.82630	2.6	0.47094	D	0.999316	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.77568	-0.2539	10	0.72032	D	0.01	-1.5629	16.4035	0.83650	0.0:0.132:0.868:0.0	.	77;162	Q3B754;Q14164	.;IKKE_HUMAN	Q	162;77	ENSP00000356087:R162Q;ENSP00000444529:R77Q	ENSP00000356087:R162Q	R	+	2	0	IKBKE	204716273	1.000000	0.71417	0.947000	0.38551	0.952000	0.60782	9.799000	0.99117	1.389000	0.46526	0.491000	0.48974	CGG	IKBKE	-	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	ENSG00000143466		0.607	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	195	0.00	0	G			206649650	206649650	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	missense	354	24.04	113	SNP	1.000	A
IKZF2	22807	genome.wustl.edu	37	2	214013359	214013359	+	5'UTR	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:214013359A>G	ENST00000434687.1	-	0	304				IKZF2_ENST00000451136.2_5'Flank|IKZF2_ENST00000457361.1_5'UTR|IKZF2_ENST00000442445.1_Silent_p.L5L|IKZF2_ENST00000413091.3_5'Flank|IKZF2_ENST00000342002.2_Silent_p.L5L|IKZF2_ENST00000421754.2_5'Flank|IKZF2_ENST00000374327.4_5'Flank|IKZF2_ENST00000374319.4_5'UTR			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCATAGTCAAAGTGCAATGC	0.323																																						dbGAP											0													105.0	98.0	100.0					2																	214013359		2201	4300	6501	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.-6T>C	2.37:g.214013359A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L5	ENST00000434687.1	37	c.13	CCDS2395.1	2																																																																																			IKZF2	-	NULL	ENSG00000030419		0.323	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	245	0.00	0	A	NM_016260		214013359	214013359	-1	no_errors	ENST00000342002	ensembl	human	putative	69_37n	silent	195	29.60	82	SNP	1.000	G
IL16	3603	genome.wustl.edu	37	15	81598930	81598930	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:81598930C>T	ENST00000302987.4	+	17	3805				RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Intron|IL16_ENST00000394660.2_Intron			Q14005	IL16_HUMAN	interleukin 16						immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGTTGTGGGCATGTGGCCAG	0.537																																						dbGAP											0													81.0	83.0	83.0					15																	81598930		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3805+44C>T	15.37:g.81598930C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,prints_Interleukin-16,pfscan_PDZ	p.A586V	ENST00000302987.4	37	c.1757	CCDS42069.1	15																																																																																			IL16	-	NULL	ENSG00000172349		0.537	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	113	0.00	0	C	NM_172217		81598930	81598930	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000558332	ensembl	human	putative	69_37n	missense	67	30.93	30	SNP	0.000	T
IL4R	3566	genome.wustl.edu	37	16	27357881	27357881	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:27357881A>G	ENST00000395762.2	+	6	714	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	IL4R_ENST00000380922.3_Missense_Mutation_p.Y137C|IL4R_ENST00000449195.1_Missense_Mutation_p.Y152C|IL4R_ENST00000170630.2_Missense_Mutation_p.Y152C|IL4R_ENST00000543915.2_Missense_Mutation_p.Y152C	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	152	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.	Minor IL4 binding determinant.			defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGACAATTACCTGTATAAT	0.527																																						dbGAP											0													120.0	113.0	115.0					16																	27357881		2197	4300	6497	-	-	-	SO:0001583	missense	0			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.455A>G	16.37:g.27357881A>G	ENSP00000379111:p.Tyr152Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y152C	ENST00000395762.2	37	c.455	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626765	0.28978	.	.	ENSG00000077238	ENST00000380925;ENST00000449195;ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	3.48	-6.96	0.01622	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.962480	0.01728	N	0.028664	T	0.68641	0.3023	L	0.40543	1.245	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60682	0.846;0.813;0.878	T	0.72171	-0.4371	10	0.48119	T	0.1	-18.3421	7.3875	0.26891	0.5671:0.0:0.091:0.3419	.	137;152;152	B4E076;P24394;P24394-2	.;IL4RA_HUMAN;.	C	152;152;152;152;137;152	ENSP00000410322:Y152C;ENSP00000379111:Y152C;ENSP00000441667:Y152C;ENSP00000370309:Y137C;ENSP00000170630:Y152C	ENSP00000170630:Y152C	Y	+	2	0	IL4R	27265382	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-4.596000	0.00210	-3.099000	0.00245	-0.691000	0.03719	TAC	IL4R	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000077238		0.527	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	254	0.00	0	A			27357881	27357881	+1	no_errors	ENST00000170630	ensembl	human	known	69_37n	missense	152	39.29	99	SNP	0.000	G
APOBR	55911	genome.wustl.edu	37	16	28511194	28511194	+	IGR	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:28511194C>T	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E170E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						cctcctcctcctcttcctcct	0.677																																						dbGAP											0													9.0	10.0	9.0					16																	28511194		2158	4227	6385	-	-	-	SO:0001628	intergenic_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511194C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	superfamily_4_helix_cytokine-like_core	p.E170	ENST00000431282.1	37	c.510		16																																																																																			IL27	-	superfamily_4_helix_cytokine-like_core	ENSG00000197272		0.677	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	IL27	HGNC	protein_coding		27	0.00	0	C	NM_182804		28511194	28511194	-1	no_errors	ENST00000356897	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.003	T
IL5RA	3568	genome.wustl.edu	37	3	3139881	3139881	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:3139881T>C	ENST00000446632.2	-	6	1035	c.461A>G	c.(460-462)cAc>cGc	p.H154R	IL5RA_ENST00000438560.1_Missense_Mutation_p.H154R|IL5RA_ENST00000418488.2_Missense_Mutation_p.H154R|IL5RA_ENST00000311981.8_Missense_Mutation_p.H154R|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.H154R|IL5RA_ENST00000456302.1_Missense_Mutation_p.H154R|IL5RA_ENST00000383846.1_Missense_Mutation_p.H154R|IL5RA_ENST00000256452.3_Missense_Mutation_p.H154R	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	154					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCAGGTGCAGTGAAGGGAAAC	0.418																																					GBM(169;430 2801 24955 28528)	dbGAP											0													208.0	215.0	212.0					3																	3139881		2203	4300	6503	-	-	-	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.461A>G	3.37:g.3139881T>C	ENSP00000412209:p.His154Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.H154R	ENST00000446632.2	37	c.461	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015324	0.35511	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.72	-4.78	0.03209	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.766331	0.12449	N	0.467945	T	0.68485	0.3006	L	0.34521	1.04	0.23386	N	0.997787	B;B;B;B;B	0.16396	0.007;0.002;0.002;0.007;0.017	B;B;B;B;B	0.24394	0.015;0.002;0.003;0.015;0.053	T	0.54125	-0.8340	10	0.25106	T	0.35	-9.7877	7.4095	0.27009	0.1257:0.4982:0.0:0.3761	.	154;154;154;154;154	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	R	154	ENSP00000412209:H154R;ENSP00000390753:H154R;ENSP00000256452:H154R;ENSP00000388858:H154R;ENSP00000373358:H154R;ENSP00000309196:H154R;ENSP00000400400:H154R;ENSP00000392059:H154R;ENSP00000398117:H154R	ENSP00000256452:H154R	H	-	2	0	IL5RA	3114881	0.000000	0.05858	0.478000	0.27316	0.854000	0.48673	-0.034000	0.12225	-0.633000	0.05545	-0.408000	0.06270	CAC	IL5RA	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.418	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	625	0.48	3	T			3139881	3139881	-1	no_errors	ENST00000256452	ensembl	human	known	69_37n	missense	399	36.71	232	SNP	0.174	C
IL6R	3570	genome.wustl.edu	37	1	154401730	154401730	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154401730delG	ENST00000368485.3	+	2	581	c.144delG	c.(142-144)ccgfs	p.P48fs	IL6R_ENST00000344086.4_Frame_Shift_Del_p.P48fs	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.P48P(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TGACCTGCCCGGGGGTAGAGC	0.642																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											70.0	69.0	69.0					1																	154401730		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.144delG	1.37:g.154401730delG	ENSP00000357470:p.Pro48fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Frame_Shift_Del	DEL	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V50fs	ENST00000368485.3	37	c.144	CCDS1067.1	1																																																																																			IL6R	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000160712		0.642	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	118	0.00	0	G	NM_000565		154401730	154401730	+1	no_errors	ENST00000368485	ensembl	human	known	69_37n	frame_shift_del	210	15.54	39	DEL	0.000	-
CXCL8	3576	genome.wustl.edu	37	4	74608180	74608180	+	Stop_Codon_Del	DEL	A	A	-	rs201643630		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:74608180delA	ENST00000307407.3	+	0	452					NM_000584.3	NP_000575.1	P10145	IL8_HUMAN							activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of neutrophil chemotaxis (GO:0090023)|receptor internalization (GO:0031623)|regulation of cell adhesion (GO:0030155)|regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091)|response to endoplasmic reticulum stress (GO:0034976)|response to molecule of bacterial origin (GO:0002237)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|interleukin-8 receptor binding (GO:0005153)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)		GAGAATTCATAAAAAAATTCA	0.318																																						dbGAP											0													23.0	24.0	24.0					4																	74608180		2195	4295	6490	-	-	-	SO:0001567	stop_retained_variant	0																														Exception_encountered	4.37:g.74608180delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4L8|Q6FGF6|Q6LAE6|Q96RG6|Q9C077|Q9UCE1|Q9UCR8|Q9UCR9|Q9UCS0	Frame_Shift_Del	DEL	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.*100fs	ENST00000307407.3	37	c.299	CCDS34005.1	4																																																																																			IL8	-	NULL	ENSG00000169429		0.318	IL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL8	HGNC	protein_coding	OTTHUMT00000322211.1	81	0.00	0	A			74608180	74608180	+1	no_errors	ENST00000307407	ensembl	human	known	69_37n	frame_shift_del	63	36.27	37	DEL	0.000	-
ILF2	3608	genome.wustl.edu	37	1	153634875	153634875	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:153634875C>A	ENST00000361891.4	-	14	1295	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	390					immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAATGTCACTCCTGAGTTT	0.493																																						dbGAP											0													168.0	138.0	148.0					1																	153634875		2203	4300	6503	-	-	-	SO:0001583	missense	0			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.1170G>T	1.37:g.153634875C>A	ENSP00000355011:p.Glu390Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.E390D	ENST00000361891.4	37	c.1170	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182232	0.38511	.	.	ENSG00000143621	ENST00000361891	T	0.47528	0.84	5.38	4.47	0.54385	.	0.046440	0.85682	D	0.000000	T	0.18257	0.0438	N	0.17082	0.46	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09952	-1.0651	10	0.87932	D	0	-1.969	12.1505	0.54048	0.0:0.9175:0.0:0.0825	.	390;390	F4ZW62;Q12905	.;ILF2_HUMAN	D	390	ENSP00000355011:E390D	ENSP00000355011:E390D	E	-	3	2	ILF2	151901499	0.998000	0.40836	1.000000	0.80357	0.760000	0.43138	0.510000	0.22723	1.515000	0.48885	0.655000	0.94253	GAG	ILF2	-	NULL	ENSG00000143621		0.493	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	641	0.00	0	C	NM_004515		153634875	153634875	-1	no_errors	ENST00000361891	ensembl	human	known	69_37n	missense	1129	18.01	248	SNP	1.000	A
INCA1	388324	genome.wustl.edu	37	17	4892806	4892806	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:4892806C>T	ENST00000574617.1	-	6	667	c.312G>A	c.(310-312)caG>caA	p.Q104Q	INCA1_ENST00000575780.1_Silent_p.Q89Q|CAMTA2_ENST00000358183.4_5'Flank|RP5-1050D4.5_ENST00000574260.1_RNA|INCA1_ENST00000355025.3_Silent_p.Q89Q|INCA1_ENST00000396829.2_Silent_p.Q104Q|CAMTA2_ENST00000361571.5_5'Flank|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000381311.5_5'Flank|CAMTA2_ENST00000348066.3_5'Flank|CAMTA2_ENST00000414043.3_5'Flank|INCA1_ENST00000576820.1_Silent_p.Q104Q|CAMTA2_ENST00000572543.1_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	104					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						CCCCAAGGCCCTGCTGCTGCA	0.572																																						dbGAP											0													144.0	161.0	155.0					17																	4892806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.312G>A	17.37:g.4892806C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6J273|Q6PKN9	Silent	SNP	NULL	p.Q104	ENST00000574617.1	37	c.312	CCDS54074.1	17																																																																																			INCA1	-	NULL	ENSG00000196388		0.572	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	INCA1	HGNC	protein_coding	OTTHUMT00000438886.1	164	0.00	0	C	NM_213726		4892806	4892806	-1	no_errors	ENST00000396829	ensembl	human	known	69_37n	silent	112	34.12	58	SNP	0.716	T
INCENP	3619	genome.wustl.edu	37	11	61906201	61906201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:61906201delC	ENST00000394818.3	+	6	1334	c.1132delC	c.(1132-1134)cccfs	p.P379fs	INCENP_ENST00000278849.4_Frame_Shift_Del_p.P379fs	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	379					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGAAGGAACCCCCCGAGGA	0.627																																						dbGAP											0													50.0	54.0	53.0					11																	61906201		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1132delC	11.37:g.61906201delC	ENSP00000378295:p.Pro379fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQD2|Q5Y192	Frame_Shift_Del	DEL	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.E380fs	ENST00000394818.3	37	c.1132	CCDS44624.1	11																																																																																			INCENP	-	NULL	ENSG00000149503		0.627	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	107	0.00	0	C	NM_020238		61906201	61906201	+1	no_errors	ENST00000394818	ensembl	human	known	69_37n	frame_shift_del	77	36.07	44	DEL	0.000	-
INO80D	54891	genome.wustl.edu	37	2	206920991	206920991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:206920991G>A	ENST00000403263.1	-	4	1299	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	299					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTCTGCAGTCGGCTTATACAT	0.498																																						dbGAP											0													92.0	97.0	95.0					2																	206920991		1992	4169	6161	-	-	-	SO:0001587	stop_gained	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.895C>T	2.37:g.206920991G>A	ENSP00000384198:p.Arg299*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Nonsense_Mutation	SNP	NULL	p.R299*	ENST00000403263.1	37	c.895	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.439101	0.98286	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	.	.	.	5.68	5.68	0.88126	.	0.057349	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7969	0.96490	0.0:0.0:1.0:0.0	.	.	.	.	X	299;299;194	.	ENSP00000233270:R299X	R	-	1	2	INO80D	206629236	1.000000	0.71417	0.618000	0.29105	0.593000	0.36681	4.340000	0.59328	2.679000	0.91253	0.650000	0.86243	CGA	INO80D	-	NULL	ENSG00000114933		0.498	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	246	0.00	0	G	NM_017759		206920991	206920991	-1	no_errors	ENST00000403263	ensembl	human	known	69_37n	nonsense	167	36.26	95	SNP	1.000	A
INPP5A	3632	genome.wustl.edu	37	10	134523913	134523913	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:134523913C>A	ENST00000368594.3	+	8	877	c.600C>A	c.(598-600)tcC>tcA	p.S200S	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.S200S	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	200					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CAAGCCCTTCCGTGTACTCGG	0.567																																					Pancreas(63;823 1267 11107 20380 51626)	dbGAP											0													91.0	71.0	78.0					10																	134523913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.600C>A	10.37:g.134523913C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.R172S	ENST00000368594.3	37	c.514	CCDS7669.2	10	.	.	.	.	.	.	.	.	.	.	C	7.308	0.614314	0.14129	.	.	ENSG00000068383	ENST00000342652	.	.	.	4.56	-9.13	0.00704	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.57888	-0.7733	4	.	.	.	-15.4772	1.8293	0.03127	0.373:0.0771:0.2799:0.2699	.	.	.	.	S	172	.	.	R	+	1	0	INPP5A	134373903	0.000000	0.05858	0.004000	0.12327	0.973000	0.67179	-5.620000	0.00109	-5.208000	0.00019	-0.883000	0.02948	CGT	INPP5A	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000068383		0.567	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5A	HGNC	protein_coding	OTTHUMT00000051085.1	303	0.33	1	C	NM_005539		134523913	134523913	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000342652	ensembl	human	known	69_37n	missense	172	40.07	115	SNP	0.006	A
INPP5B	3633	genome.wustl.edu	37	1	38409556	38409556	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:38409556G>T	ENST00000373026.1	-	3	162	c.162C>A	c.(160-162)ctC>ctA	p.L54L	INPP5B_ENST00000373024.3_Silent_p.L54L|INPP5B_ENST00000373023.2_Silent_p.L54L|INPP5B_ENST00000373021.1_Silent_p.L54L			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	54	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGTGCGTATAGAGGAAGAGAC	0.602																																						dbGAP											0													63.0	61.0	61.0					1																	38409556		1971	4154	6125	-	-	-	SO:0001819	synonymous_variant	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.162C>A	1.37:g.38409556G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L54	ENST00000373026.1	37	c.162		1																																																																																			INPP5B	-	NULL	ENSG00000204084		0.602	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	112	0.00	0	G	NM_005540		38409556	38409556	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	silent	79	40.15	53	SNP	0.999	T
INTS2	57508	genome.wustl.edu	37	17	59945278	59945278	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:59945278T>C	ENST00000444766.3	-	24	3436	c.3361A>G	c.(3361-3363)Att>Gtt	p.I1121V	INTS2_ENST00000251334.6_Missense_Mutation_p.I1113V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1121					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAGACATAATATCCTCATAC	0.398																																						dbGAP											0													94.0	85.0	88.0					17																	59945278		1892	4096	5988	-	-	-	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3361A>G	17.37:g.59945278T>C	ENSP00000414237:p.Ile1121Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Missense_Mutation	SNP	NULL	p.I1121V	ENST00000444766.3	37	c.3361	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	T	7.420	0.636486	0.14386	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T;T	0.45668	1.03;0.89	5.44	4.33	0.51752	.	0.156319	0.56097	N	0.000023	T	0.22437	0.0541	N	0.11064	0.09	0.43688	D	0.996132	B	0.09022	0.002	B	0.06405	0.002	T	0.04781	-1.0927	9	.	.	.	-13.3649	11.0362	0.47802	0.0:0.0743:0.0:0.9257	.	1121	Q9H0H0	INT2_HUMAN	V	1121;1120	ENSP00000414237:I1121V;ENSP00000251334:I1120V	.	I	-	1	0	INTS2	57300060	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.005000	0.57075	0.962000	0.38057	0.477000	0.44152	ATT	INTS2	-	NULL	ENSG00000108506		0.398	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	207	0.00	0	T	NM_020748		59945278	59945278	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	missense	374	22.57	109	SNP	1.000	C
INTS2	57508	genome.wustl.edu	37	17	59947271	59947271	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:59947271T>C	ENST00000444766.3	-	21	2956	c.2881A>G	c.(2881-2883)Agc>Ggc	p.S961G	INTS2_ENST00000251334.6_Missense_Mutation_p.S953G	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	961					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CTTAACAAGCTATCTGGATTG	0.403																																						dbGAP											0													141.0	136.0	137.0					17																	59947271		1873	4112	5985	-	-	-	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2881A>G	17.37:g.59947271T>C	ENSP00000414237:p.Ser961Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULD3	Missense_Mutation	SNP	NULL	p.S961G	ENST00000444766.3	37	c.2881	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246446	0.39697	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T;T	0.46063	0.88;0.89	4.74	4.74	0.60224	.	0.081931	0.85682	D	0.000000	T	0.28001	0.0690	L	0.29908	0.895	0.33663	D	0.609934	B	0.02656	0.0	B	0.01281	0.0	T	0.31280	-0.9949	9	.	.	.	-1.0506	8.9291	0.35659	0.0:0.0898:0.0:0.9102	.	961	Q9H0H0	INT2_HUMAN	G	961;960	ENSP00000414237:S961G;ENSP00000251334:S960G	.	S	-	1	0	INTS2	57302053	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.667000	0.46808	2.067000	0.61834	0.528000	0.53228	AGC	INTS2	-	NULL	ENSG00000108506		0.403	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	133	0.00	0	T	NM_020748		59947271	59947271	-1	no_errors	ENST00000444766	ensembl	human	known	69_37n	missense	307	16.12	59	SNP	1.000	C
INTS6	26512	genome.wustl.edu	37	13	52026593	52026593	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:52026593G>T	ENST00000311234.4	-	1	541	c.69C>A	c.(67-69)acC>acA	p.T23T	INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6_ENST00000442263.3_Silent_p.T23T|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Silent_p.T23T|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000594959.1_RNA|INTS6_ENST00000420668.2_Silent_p.T23T|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6_ENST00000491723.1_5'UTR|INTS6-AS1_ENST00000598905.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6_ENST00000398119.2_Silent_p.T10T|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000593672.1_RNA	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	23	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TGTCCAGGTAGGTGGTGCCCA	0.682																																						dbGAP											0													82.0	72.0	75.0					13																	52026593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.69C>A	13.37:g.52026593G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Silent	SNP	pfam_VWF_A,pfscan_VWF_A	p.T23	ENST00000311234.4	37	c.69	CCDS9428.1	13																																																																																			INTS6	-	pfam_VWF_A,pfscan_VWF_A	ENSG00000102786		0.682	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	113	0.00	0	G	NM_012141		52026593	52026593	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	silent	67	38.53	42	SNP	1.000	T
IQGAP1	8826	genome.wustl.edu	37	15	91019924	91019925	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:91019924_91019925insA	ENST00000268182.5	+	24	2938_2939	c.2814_2815insA	c.(2815-2817)aaafs	p.K939fs	IQGAP1_ENST00000560738.1_Frame_Shift_Ins_p.K367fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	939					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAAACTTACCAAAAAAAATAA	0.361																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2822dupA	15.37:g.91019932_91019932dupA	ENSP00000268182:p.Lys939fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM3	Frame_Shift_Ins	INS	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.N940fs	ENST00000268182.5	37	c.2814_2815	CCDS10362.1	15																																																																																			IQGAP1	-	NULL	ENSG00000140575		0.361	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	186	0.00	0	-	NM_003870		91019924	91019925	+1	no_errors	ENST00000268182	ensembl	human	known	69_37n	frame_shift_ins	145	34.39	76	INS	0.998:1.000	A
IRF2	3660	genome.wustl.edu	37	4	185309973	185309973	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:185309973G>A	ENST00000393593.3	-	9	1196	c.989C>T	c.(988-990)aCc>aTc	p.T330I		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	330					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GCTGGCCCGGGTCTCCCGGTC	0.597																																						dbGAP											0													63.0	72.0	69.0					4																	185309973		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.989C>T	4.37:g.185309973G>A	ENSP00000377218:p.Thr330Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.T330I	ENST00000393593.3	37	c.989	CCDS3835.1	4	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277678	0.40294	.	.	ENSG00000168310	ENST00000393593	D	0.97994	-4.65	5.08	4.23	0.50019	.	0.826111	0.10849	N	0.627335	D	0.96049	0.8713	L	0.53249	1.67	0.39610	D	0.969873	B	0.26318	0.146	B	0.24974	0.057	D	0.94129	0.7386	10	0.72032	D	0.01	-0.1073	11.4477	0.50134	0.0:0.1361:0.7227:0.1412	.	330	P14316	IRF2_HUMAN	I	330	ENSP00000377218:T330I	ENSP00000377218:T330I	T	-	2	0	IRF2	185546967	0.996000	0.38824	0.944000	0.38274	0.989000	0.77384	2.529000	0.45632	1.358000	0.45922	0.561000	0.74099	ACC	IRF2	-	pirsf_Interferon_reg_fac-1/2	ENSG00000168310		0.597	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2	HGNC	protein_coding	OTTHUMT00000361393.1	141	0.00	0	G			185309973	185309973	-1	no_errors	ENST00000393593	ensembl	human	known	69_37n	missense	93	39.61	61	SNP	0.925	A
IRF3	3661	genome.wustl.edu	37	19	50164025	50164025	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:50164025A>C	ENST00000597198.1	-	7	1424	c.1043T>G	c.(1042-1044)gTg>gGg	p.V348G	IRF3_ENST00000377135.4_Missense_Mutation_p.V221G|IRF3_ENST00000601291.1_Missense_Mutation_p.C353W|IRF3_ENST00000600911.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.V202G|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000600022.1_Missense_Mutation_p.V75G|IRF3_ENST00000599223.1_Missense_Mutation_p.V221G|IRF3_ENST00000309877.7_Missense_Mutation_p.V348G|IRF3_ENST00000599144.1_Missense_Mutation_p.V202G|IRF3_ENST00000598808.1_Missense_Mutation_p.V202G|IRF3_ENST00000596765.1_Missense_Mutation_p.V75G|IRF3_ENST00000377139.3_Missense_Mutation_p.V348G			Q14653	IRF3_HUMAN	interferon regulatory factor 3	348	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGACTCCCCCACACAGAACCA	0.617																																						dbGAP											0													57.0	43.0	48.0					19																	50164025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1043T>G	19.37:g.50164025A>C	ENSP00000469113:p.Val348Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.V348G	ENST00000597198.1	37	c.1043	CCDS12775.1	19	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086032	0.36855	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.95001	-3.58;-3.58;-3.58	4.54	4.54	0.55810	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	.	.	.	.	D	0.95137	0.8424	L	0.44542	1.39	0.48452	D	0.999656	P;D	0.64830	0.855;0.994	D;D	0.69479	0.958;0.964	D	0.95213	0.8327	9	0.72032	D	0.01	-2.3768	11.4799	0.50320	1.0:0.0:0.0:0.0	.	348;221	Q14653;Q5FBY1	IRF3_HUMAN;.	G	348;348;221	ENSP00000366344:V348G;ENSP00000310127:V348G;ENSP00000366339:V221G	ENSP00000310127:V348G	V	-	2	0	IRF3	54855837	0.045000	0.20229	0.008000	0.14137	0.145000	0.21501	4.411000	0.59781	1.913000	0.55393	0.482000	0.46254	GTG	IRF3	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000126456		0.617	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	72	0.00	0	A	NM_001571		50164025	50164025	-1	no_errors	ENST00000309877	ensembl	human	known	69_37n	missense	49	30.99	22	SNP	0.012	C
ITFG3	83986	genome.wustl.edu	37	16	314098	314098	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:314098C>T	ENST00000399932.3	+	11	1723	c.1272C>T	c.(1270-1272)agC>agT	p.S424S	ITFG3_ENST00000442458.2_Silent_p.S424S|ITFG3_ENST00000301679.2_Silent_p.S424S|ITFG3_ENST00000450082.2_Silent_p.S424S|ITFG3_ENST00000600536.1_Silent_p.S424S|ITFG3_ENST00000301678.3_Silent_p.S424S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	424						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TGTCCGCCAGCCTGCCGACCG	0.677																																						dbGAP											0													20.0	27.0	25.0					16																	314098		1989	4150	6139	-	-	-	SO:0001819	synonymous_variant	0			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1272C>T	16.37:g.314098C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.S424	ENST00000399932.3	37	c.1272	CCDS10402.1	16																																																																																			ITFG3	-	superfamily_Quinonprotein_ADH-like	ENSG00000167930		0.677	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	61	0.00	0	C	NM_032039		314098	314098	+1	no_errors	ENST00000301678	ensembl	human	known	69_37n	silent	25	37.50	15	SNP	0.510	T
ITFG3	83986	genome.wustl.edu	37	16	314835	314835	+	Silent	SNP	C	C	T	rs201361448		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:314835C>T	ENST00000399932.3	+	13	1924	c.1473C>T	c.(1471-1473)caC>caT	p.H491H	ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301679.2_Silent_p.H491H|ITFG3_ENST00000450082.2_Silent_p.H491H|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301678.3_Silent_p.H491H	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	491						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CAAGCCGCCACGCCGCCTACA	0.677													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15121	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													18.0	23.0	22.0					16																	314835		2080	4207	6287	-	-	-	SO:0001819	synonymous_variant	0			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1473C>T	16.37:g.314835C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	NULL	p.T131M	ENST00000399932.3	37	c.392	CCDS10402.1	16	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.488	-0.876710	0.02550	.	.	ENSG00000167930	ENST00000424016	.	.	.	5.0	-6.92	0.01644	.	.	.	.	.	T	0.60117	0.2244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63941	-0.6523	4	.	.	.	-13.3623	14.026	0.64586	0.0:0.6828:0.0:0.3172	.	.	.	.	M	131	.	.	T	+	2	0	ITFG3	254836	0.118000	0.22208	0.924000	0.36721	0.865000	0.49528	-0.920000	0.04013	-1.263000	0.02455	-1.218000	0.01608	ACG	ITFG3	-	NULL	ENSG00000167930		0.677	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	46	0.00	0	C	NM_032039		314835	314835	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000424016	ensembl	human	novel	69_37n	missense	22	45.00	18	SNP	0.785	T
ITGAM	3684	genome.wustl.edu	37	16	31342567	31342567	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:31342567C>T	ENST00000287497.8	+	29	3433	c.3358C>T	c.(3358-3360)Ctg>Ttg	p.L1120L	ITGAM_ENST00000544665.3_Silent_p.L1121L			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1120					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACTGCTGCTCCTGGCCCTCAT	0.697																																						dbGAP											0													26.0	32.0	30.0					16																	31342567		1997	4187	6184	-	-	-	SO:0001819	synonymous_variant	0			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3358C>T	16.37:g.31342567C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L1121	ENST00000287497.8	37	c.3361	CCDS45470.1	16																																																																																			ITGAM	-	prints_Integrin_alpha	ENSG00000169896		0.697	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	52	0.00	0	C	NM_000632		31342567	31342567	+1	no_errors	ENST00000544665	ensembl	human	known	69_37n	silent	27	49.06	26	SNP	0.964	T
ITGAV	3685	genome.wustl.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-	rs567294324		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)	dbGAP											0													249.0	235.0	239.0					2																	187521085		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G561fs	ENST00000261023.3	37	c.1676	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	649	0.15	1	G	NM_002210		187521085	187521085	+1	no_errors	ENST00000261023	ensembl	human	known	69_37n	frame_shift_del	503	30.61	229	DEL	0.609	-
ITGAV	3685	genome.wustl.edu	37	2	187531911	187531911	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:187531911T>C	ENST00000261023.3	+	23	2555	c.2281T>C	c.(2281-2283)Tct>Cct	p.S761P	ITGAV_ENST00000374907.3_Missense_Mutation_p.S725P|ITGAV_ENST00000433736.2_Missense_Mutation_p.S715P|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	761					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CCCAGTTGTATCTCACAAAGT	0.323																																					Melanoma(58;108 1995 6081)	dbGAP											0													158.0	151.0	153.0					2																	187531911		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2281T>C	2.37:g.187531911T>C	ENSP00000261023:p.Ser761Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S761P	ENST00000261023.3	37	c.2281	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202675	0.58234	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.48522	0.81;0.81;0.81	6.07	6.07	0.98685	Integrin alpha-2 (1);	0.171002	0.53938	D	0.000049	T	0.60534	0.2276	L	0.54323	1.7	0.51233	D	0.999915	D;B;D	0.63046	0.992;0.009;0.992	D;B;D	0.63488	0.915;0.012;0.915	T	0.59032	-0.7530	10	0.39692	T	0.17	.	12.828	0.57731	0.1221:0.0:0.0:0.8779	.	715;725;761	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	P	761;725;715	ENSP00000261023:S761P;ENSP00000364042:S725P;ENSP00000404291:S715P	ENSP00000261023:S761P	S	+	1	0	ITGAV	187240156	0.995000	0.38212	0.936000	0.37596	0.374000	0.29953	4.264000	0.58859	2.330000	0.79161	0.477000	0.44152	TCT	ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.323	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	440	0.00	0	T	NM_002210		187531911	187531911	+1	no_errors	ENST00000261023	ensembl	human	known	69_37n	missense	319	38.97	205	SNP	0.968	C
ITGAX	3687	genome.wustl.edu	37	16	31374656	31374656	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:31374656C>T	ENST00000268296.4	+	14	1792	c.1671C>T	c.(1669-1671)caC>caT	p.H557H	ITGAX_ENST00000562522.1_Silent_p.H557H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	557					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACCTGTTTCACGGAGTCTTGG	0.607																																						dbGAP											0													101.0	103.0	103.0					16																	31374656		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1671C>T	16.37:g.31374656C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.H557	ENST00000268296.4	37	c.1671	CCDS10711.1	16																																																																																			ITGAX	-	smart_Int_alpha_beta-p	ENSG00000140678		0.607	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	205	0.49	1	C	NM_000887		31374656	31374656	+1	no_errors	ENST00000268296	ensembl	human	known	69_37n	silent	135	34.30	71	SNP	0.527	T
ITGB2	3689	genome.wustl.edu	37	21	46306283	46306283	+	Nonstop_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:46306283C>A	ENST00000397850.2	-	17	2762	c.2310G>T	c.(2308-2310)taG>taT	p.*770Y	ITGB2_ENST00000397854.3_Nonstop_Mutation_p.*713Y|ITGB2_ENST00000397852.1_Nonstop_Mutation_p.*770Y|ITGB2_ENST00000302347.5_Nonstop_Mutation_p.*770Y|ITGB2_ENST00000355153.4_Nonstop_Mutation_p.*770Y|ITGB2_ENST00000397857.1_Nonstop_Mutation_p.*770Y			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	0					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAAGTGCTCCTAACTCTCAG	0.547																																						dbGAP											0													132.0	117.0	122.0					21																	46306283		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2310G>T	21.37:g.46306283C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Nonstop_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.*770Y	ENST00000397850.2	37	c.2310	CCDS13716.1	21	.	.	.	.	.	.	.	.	.	.	C	9.049	0.991717	0.18966	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	.	.	.	3.78	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6381	0.39822	0.0:0.8899:0.0:0.1101	.	.	.	.	Y	770;770;713;770;770;770	.	.	X	-	3	2	ITGB2	45130711	0.739000	0.28196	0.359000	0.25824	0.363000	0.29612	1.047000	0.30367	0.897000	0.36392	0.655000	0.94253	TAG	ITGB2	-	NULL	ENSG00000160255		0.547	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	177	0.00	0	C	NM_000211		46306283	46306283	-1	no_errors	ENST00000302347	ensembl	human	known	69_37n	nonstop	125	41.59	89	SNP	0.368	A
ITGB4	3691	genome.wustl.edu	37	17	73725372	73725373	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:73725372_73725373insC	ENST00000200181.3	+	7	780_781	c.593_594insC	c.(592-597)gaccccfs	p.DP198fs	ITGB4_ENST00000450894.3_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000339591.3_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000579662.1_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000449880.2_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	198	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.D198D(1)|p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACAGTGACCCCCCCTTCT	0.599																																						dbGAP											2	Deletion - Frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)							,,	1,4263		0,1,2131					,,	5.6	0.7			84	2,8252		0,2,4125	no	frameshift,frameshift,frameshift	ITGB4	NM_001005731.1,NM_001005619.1,NM_000213.3	,,	0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024	,,	,,		3,12515				-	-	-	SO:0001589	frameshift_variant	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.600dupC	17.37:g.73725379_73725379dupC	ENSP00000200181:p.Asp198fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Ins	INS	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.F201fs	ENST00000200181.3	37	c.593_594	CCDS11727.1	17																																																																																			ITGB4	-	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000132470		0.599	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	191	0.00	0	-			73725372	73725373	+1	no_errors	ENST00000200181	ensembl	human	known	69_37n	frame_shift_ins	377	16.22	73	INS	1.000:0.996	C
ITGB6	3694	genome.wustl.edu	37	2	160980367	160980367	+	Missense_Mutation	SNP	C	C	T	rs552791527		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:160980367C>T	ENST00000283249.2	-	12	2153	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.G639D|ITGB6_ENST00000428609.2_Missense_Mutation_p.G597D	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	639					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCGGGCTTGGCCAGCTGCTGA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		21781	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													157.0	136.0	143.0					2																	160980367		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1916G>A	2.37:g.160980367C>T	ENSP00000283249:p.Gly639Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.G639D	ENST00000283249.2	37	c.1916	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000783	0.35320	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409872	D;D;D	0.86432	-2.12;-2.12;-2.12	5.74	1.71	0.24356	Integrin beta subunit, tail (2);	0.342582	0.33346	N	0.005016	T	0.75576	0.3868	L	0.31664	0.95	0.41289	D	0.986967	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.68969	-0.5269	10	0.62326	D	0.03	.	3.8414	0.08915	0.0:0.3265:0.3853:0.2882	.	597;639	E9PEE8;P18564	.;ITB6_HUMAN	D	639;597;639	ENSP00000283249:G639D;ENSP00000408024:G597D;ENSP00000386367:G639D	ENSP00000283249:G639D	G	-	2	0	ITGB6	160688613	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	0.739000	0.26173	0.875000	0.35847	0.561000	0.74099	GGC	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail	ENSG00000115221		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	257	0.00	0	C	NM_000888		160980367	160980367	-1	no_errors	ENST00000283249	ensembl	human	known	69_37n	missense	184	43.21	140	SNP	0.996	T
ITIH4	3700	genome.wustl.edu	37	3	52861123	52861123	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:52861123G>A	ENST00000266041.4	-	3	438	c.342C>T	c.(340-342)agC>agT	p.S114S	ITIH4_ENST00000346281.5_Silent_p.S114S|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.S26S|RP5-966M1.6_ENST00000513520.1_5'Flank|ITIH4_ENST00000406595.1_Silent_p.S114S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Silent_p.S114S	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	114	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.			S -> N (in Ref. 2; BAA07602). {ECO:0000305}.	acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S114S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGAGGCCAGCGCTCTTTCCCT	0.607																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											131.0	128.0	129.0					3																	52861123		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.342C>T	3.37:g.52861123G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.S114	ENST00000266041.4	37	c.342	CCDS2865.1	3																																																																																			ITIH4	-	pfam_VIT,smart_VIT	ENSG00000055955		0.607	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4	HGNC	protein_coding	OTTHUMT00000317715.1	342	0.00	0	G	NM_002218		52861123	52861123	-1	no_errors	ENST00000266041	ensembl	human	known	69_37n	silent	70	67.57	150	SNP	0.076	A
ITLN2	142683	genome.wustl.edu	37	1	160920969	160920969	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:160920969A>G	ENST00000368029.3	-	4	362	c.305T>C	c.(304-306)aTg>aCg	p.M102T	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	102	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTTCCCACGCATGTCATTCTC	0.577																																						dbGAP											0													131.0	111.0	118.0					1																	160920969		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.305T>C	1.37:g.160920969A>G	ENSP00000357008:p.Met102Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RR2|Q5VYI0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C	p.M102T	ENST00000368029.3	37	c.305	CCDS1212.1	1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.673951	0.29693	.	.	ENSG00000158764	ENST00000368029	T	0.16743	2.32	3.85	3.85	0.44370	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.339671	0.20364	U	0.093800	T	0.14960	0.0361	L	0.60067	1.865	0.29411	N	0.861278	P;P	0.45768	0.866;0.866	P;P	0.51453	0.67;0.593	T	0.01617	-1.1311	10	0.49607	T	0.09	-3.4252	10.8968	0.47027	1.0:0.0:0.0:0.0	.	101;102	A6NI51;Q8WWU7	.;ITLN2_HUMAN	T	102	ENSP00000357008:M102T	ENSP00000357008:M102T	M	-	2	0	ITLN2	159187593	0.966000	0.33281	0.057000	0.19452	0.020000	0.10135	3.580000	0.53907	1.721000	0.51461	0.459000	0.35465	ATG	ITLN2	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000158764		0.577	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN2	HGNC	protein_coding	OTTHUMT00000071465.1	222	0.00	0	A	NM_080878		160920969	160920969	-1	no_errors	ENST00000368029	ensembl	human	known	69_37n	missense	364	16.63	73	SNP	0.864	G
ITPR1	3708	genome.wustl.edu	37	3	4841971	4841971	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:4841971C>T	ENST00000443694.2	+	51	6886				ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000463980.1_Intron|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000302640.8_Intron|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000456211.2_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATGGATGGGGCAGAGAATTTG	0.468																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6887-138C>T	3.37:g.4841971C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	RNA	SNP	-	NULL	ENST00000443694.2	37	NULL	CCDS54551.1	3																																																																																			ITPR1	-	-	ENSG00000150995		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	14	0.00	0	C	NM_002222		4841971	4841971	+1	no_errors	ENST00000490572	ensembl	human	known	69_37n	rna	12	30.00	6	SNP	0.000	T
ITPR2	3709	genome.wustl.edu	37	12	26753017	26753017	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:26753017A>G	ENST00000381340.3	-	29	4120	c.3704T>C	c.(3703-3705)aTg>aCg	p.M1235T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1235					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCTAGATTCATTACTTCATT	0.333																																						dbGAP											0													112.0	106.0	108.0					12																	26753017		1852	4089	5941	-	-	-	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3704T>C	12.37:g.26753017A>G	ENSP00000370744:p.Met1235Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M1235T	ENST00000381340.3	37	c.3704	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	18.16	3.562471	0.65538	.	.	ENSG00000123104	ENST00000381340	T	0.65732	-0.17	4.34	4.34	0.51931	Intracellular calcium-release channel (1);	0.038520	0.85682	D	0.000000	T	0.69682	0.3138	M	0.73217	2.22	0.80722	D	1	P	0.42649	0.786	P	0.49192	0.602	T	0.74685	-0.3582	10	0.66056	D	0.02	.	13.9836	0.64319	1.0:0.0:0.0:0.0	.	1235	Q14571	ITPR2_HUMAN	T	1235	ENSP00000370744:M1235T	ENSP00000370744:M1235T	M	-	2	0	ITPR2	26644284	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	8.941000	0.92964	1.962000	0.57031	0.528000	0.53228	ATG	ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold	ENSG00000123104		0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	288	0.00	0	A	NM_002223		26753017	26753017	-1	no_errors	ENST00000381340	ensembl	human	known	69_37n	missense	181	42.17	132	SNP	1.000	G
ITSN1	6453	genome.wustl.edu	37	21	35183510	35183510	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:35183510G>A	ENST00000381318.3	+	21	2839	c.2551G>A	c.(2551-2553)Gcc>Acc	p.A851T	ITSN1_ENST00000379960.5_Missense_Mutation_p.A846T|ITSN1_ENST00000399338.4_Missense_Mutation_p.A846T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.A846T|ITSN1_ENST00000399355.2_Missense_Mutation_p.A851T|ITSN1_ENST00000381285.4_Missense_Mutation_p.A851T|ITSN1_ENST00000399326.3_Missense_Mutation_p.A846T|ITSN1_ENST00000399349.1_Missense_Mutation_p.A846T|ITSN1_ENST00000399352.1_Missense_Mutation_p.A846T|ITSN1_ENST00000399353.1_Missense_Mutation_p.A809T|ITSN1_ENST00000399367.3_Missense_Mutation_p.A846T|ITSN1_ENST00000381291.4_Missense_Mutation_p.A851T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	851					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAATAACTGGGCCGACTTCAG	0.522																																						dbGAP											0													88.0	81.0	84.0					21																	35183510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2551G>A	21.37:g.35183510G>A	ENSP00000370719:p.Ala851Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A851T	ENST00000381318.3	37	c.2551	CCDS33545.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.949463|4.949463	0.92660|0.92660	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960|ENST00000440794	T;T;T;T;T;T;T;T;T;T;T;T|.	0.45276|.	1.4;0.9;0.95;0.92;1.03;1.4;0.93;1.25;1.83;0.99;1.89;1.89|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70245|0.70245	0.3202|0.3202	L|L	0.45581|0.45581	1.43|1.43	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P;D;D;D;D;D;B;D|.	0.89917|.	1.0;1.0;0.877;0.997;0.999;0.999;0.997;0.997;0.094;1.0|.	D;D;P;D;D;D;D;D;B;D|.	0.87578|.	0.998;0.998;0.494;0.996;0.995;0.922;0.996;0.996;0.316;0.998|.	T|T	0.64076|0.64076	-0.6492|-0.6492	10|5	0.56958|.	D|.	0.05|.	.|.	20.2723|20.2723	0.98479|0.98479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	814;814;809;846;851;846;846;851;846;809|.	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0|.	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.|.	T|D	809;851;851;851;851;846;846;846;851;846;846;846;846;846|85	ENSP00000382290:A809T;ENSP00000370719:A851T;ENSP00000370691:A851T;ENSP00000370685:A851T;ENSP00000382301:A846T;ENSP00000382289:A846T;ENSP00000382292:A851T;ENSP00000382286:A846T;ENSP00000382275:A846T;ENSP00000387377:A846T;ENSP00000382265:A846T;ENSP00000369294:A846T|.	ENSP00000369294:A846T|.	A|G	+|+	1|2	0|0	ITSN1|ITSN1	34105380|34105380	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.581000|7.581000	0.82535|0.82535	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GCC|GGC	ITSN1	-	NULL	ENSG00000205726		0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	137	0.00	0	G	NM_003024		35183510	35183510	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	89	33.58	45	SNP	1.000	A
JAG2	3714	genome.wustl.edu	37	14	105614670	105614670	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:105614670G>A	ENST00000331782.3	-	16	2530	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	JAG2_ENST00000347004.2_Silent_p.C671C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	709	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACGTGAGTGGCAGGTCTTGC	0.692																																						dbGAP											0													20.0	18.0	19.0					14																	105614670		2189	4277	6466	-	-	-	SO:0001819	synonymous_variant	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2127C>T	14.37:g.105614670G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.C709	ENST00000331782.3	37	c.2127	CCDS9998.1	14																																																																																			JAG2	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000184916		0.692	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	10	0.00	0	G			105614670	105614670	-1	no_errors	ENST00000331782	ensembl	human	known	69_37n	silent	14	31.82	7	SNP	1.000	A
JDP2	122953	genome.wustl.edu	37	14	75904745	75904745	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:75904745G>A	ENST00000435893.2	+	2	395	c.122G>A	c.(121-123)cGc>cAc	p.R41H	JDP2_ENST00000559773.1_3'UTR|JDP2_ENST00000437176.1_Missense_Mutation_p.R41H|JDP2_ENST00000267569.5_Missense_Mutation_p.R52H|JDP2_ENST00000419727.2_Missense_Mutation_p.R41H	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	41					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	GCTGACATCCGCAACCTCGGG	0.632																																						dbGAP											0													34.0	34.0	34.0					14																	75904745		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.122G>A	14.37:g.75904745G>A	ENSP00000399587:p.Arg41His	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.R52H	ENST00000435893.2	37	c.155	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651752	0.29336	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.56611	0.48;0.48;0.48;0.45	5.61	4.72	0.59763	.	0.269421	0.38436	N	0.001692	T	0.38108	0.1028	N	0.24115	0.695	0.32053	N	0.596676	B	0.06786	0.001	B	0.01281	0.0	T	0.41034	-0.9531	10	0.30078	T	0.28	-19.4252	12.8313	0.57748	0.0752:0.0:0.9248:0.0	.	41	Q8WYK2	JDP2_HUMAN	H	41;41;41;52	ENSP00000415558:R41H;ENSP00000409787:R41H;ENSP00000399587:R41H;ENSP00000267569:R52H	ENSP00000267569:R52H	R	+	2	0	JDP2	74974498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.614000	0.61183	1.384000	0.46424	0.561000	0.74099	CGC	JDP2	-	NULL	ENSG00000140044		0.632	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	85	0.00	0	G	NM_130469		75904745	75904745	+1	no_errors	ENST00000267569	ensembl	human	known	69_37n	missense	68	34.62	36	SNP	1.000	A
JAG2	3714	genome.wustl.edu	37	14	105615580	105615580	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:105615580G>A	ENST00000331782.3	-	13	2083	c.1680C>T	c.(1678-1680)tgC>tgT	p.C560C	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.C522C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	560	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGGGCAGGCGCAGTAATAGT	0.667																																						dbGAP											0													105.0	108.0	107.0					14																	105615580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1680C>T	14.37:g.105615580G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.C560	ENST00000331782.3	37	c.1680	CCDS9998.1	14																																																																																			JAG2	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000184916		0.667	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	70	0.00	0	G			105615580	105615580	-1	no_errors	ENST00000331782	ensembl	human	known	69_37n	silent	37	42.19	27	SNP	0.996	A
JMJD6	23210	genome.wustl.edu	37	17	74719905	74719905	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:74719905A>T	ENST00000397625.4	-	3	868	c.754T>A	c.(754-756)Ttc>Atc	p.F252I	JMJD6_ENST00000445478.2_Missense_Mutation_p.F252I|JMJD6_ENST00000585429.1_Missense_Mutation_p.F252I	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	252	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AGGGGTTTGAATTCAGGTGGC	0.478																																						dbGAP											0													123.0	120.0	121.0					17																	74719905		1863	4091	5954	-	-	-	SO:0001583	missense	0			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.754T>A	17.37:g.74719905A>T	ENSP00000380750:p.Phe252Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.F252I	ENST00000397625.4	37	c.754	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400290	0.62177	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	T;T	0.66460	-0.21;-0.21	5.41	5.41	0.78517	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.150553	0.64402	D	0.000008	T	0.54095	0.1837	L	0.28458	0.855	0.80722	D	1	B;B;B	0.30511	0.136;0.282;0.139	B;B;B	0.26310	0.044;0.068;0.018	T	0.52026	-0.8630	10	0.27082	T	0.32	-12.8229	15.4502	0.75268	1.0:0.0:0.0:0.0	.	252;252;252	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	I	252	ENSP00000394085:F252I;ENSP00000380750:F252I	ENSP00000302916:F252I	F	-	1	0	JMJD6	72231500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.326000	0.96389	2.039000	0.60335	0.523000	0.50628	TTC	JMJD6	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000070495		0.478	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	369	0.00	0	A	NM_015167		74719905	74719905	-1	no_errors	ENST00000445478	ensembl	human	known	69_37n	missense	673	19.30	161	SNP	1.000	T
RPS28	6234	genome.wustl.edu	37	19	8387756	8387756	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:8387756G>A	ENST00000600659.2	+	0	858				NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank|KANK3_ENST00000330915.3_Silent_p.C811C	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										CATTGTCACCGCATTCTCCTT	0.597																																						dbGAP											0													95.0	74.0	81.0					19																	8387756		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.*617G>A	19.37:g.8387756G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P25112	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.C811	ENST00000600659.2	37	c.2433	CCDS45953.1	19																																																																																			KANK3	-	NULL	ENSG00000186994		0.597	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK3	HGNC	protein_coding	OTTHUMT00000461377.3	146	0.67	1	G	NM_001031		8387756	8387756	-1	no_errors	ENST00000330915	ensembl	human	known	69_37n	silent	43	71.05	108	SNP	0.001	A
KAT2A	2648	genome.wustl.edu	37	17	40270000	40270000	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:40270000T>C	ENST00000225916.5	-	8	1269	c.1216A>G	c.(1216-1218)Atc>Gtc	p.I406V		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	406					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGGCTGAAGATGGGGGTGCTG	0.607																																						dbGAP											0													32.0	33.0	33.0					17																	40270000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1216A>G	17.37:g.40270000T>C	ENSP00000225916:p.Ile406Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.I406V	ENST00000225916.5	37	c.1216	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	T	6.895	0.534683	0.13188	.	.	ENSG00000108773	ENST00000225916	T	0.04454	3.62	4.39	2.02	0.26589	.	0.308380	0.30109	N	0.010382	T	0.01558	0.0050	N	0.02181	-0.65	0.19945	N	0.999943	B	0.02656	0.0	B	0.01281	0.0	T	0.49986	-0.8880	10	0.13108	T	0.6	-22.1833	5.5769	0.17228	0.1476:0.0:0.2438:0.6086	.	406	Q92830	KAT2A_HUMAN	V	406	ENSP00000225916:I406V	ENSP00000225916:I406V	I	-	1	0	KAT2A	37523526	0.969000	0.33509	1.000000	0.80357	0.969000	0.65631	1.075000	0.30716	1.629000	0.50426	0.454000	0.30748	ATC	KAT2A	-	pirsf_Hist_acetylase_PCAF	ENSG00000108773		0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	72	0.00	0	T	NM_021078		40270000	40270000	-1	no_errors	ENST00000225916	ensembl	human	known	69_37n	missense	24	61.90	39	SNP	0.985	C
KAT6A	7994	genome.wustl.edu	37	8	41791871	41791873	+	In_Frame_Del	DEL	CTC	CTC	-	rs555706857		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:41791871_41791873delCTC	ENST00000396930.3	-	18	4408_4410	c.3865_3867delGAG	c.(3865-3867)gagdel	p.E1289del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E1289del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E1289del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1289	Glu-rich.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										attcctgctgctcctcctctgac	0.571																																						dbGAP											0									,,	0,4264		0,0,2132					,,	4.9	0.9			102	2,8252		0,2,4125	no	coding,coding,coding	KAT6A	NM_006766.3,NM_001099413.1,NM_001099412.1	,,	0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016	,,	,,		2,12516				-	-	-	SO:0001651	inframe_deletion	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3865_3867delGAG	8.37:g.41791877_41791879delCTC	ENSP00000380136:p.Glu1289del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76L81	In_Frame_Del	DEL	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1289in_frame_del	ENST00000396930.3	37	c.3867_3865	CCDS6124.1	8																																																																																			KAT6A	-	NULL	ENSG00000083168		0.571	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	503	0.00	0	CTC	NM_006766		41791871	41791873	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	in_frame_del	382	27.24	143	DEL	1.000:1.000:1.000	-
KAT6B	23522	genome.wustl.edu	37	10	76788956	76788956	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:76788956delT	ENST00000287239.4	+	18	4863	c.4374delT	c.(4372-4374)actfs	p.T1458fs	KAT6B_ENST00000372711.1_Frame_Shift_Del_p.T1275fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.T1166fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.T1166fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.T1166fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1458					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ACCAGGAGACTTTTTTAGACC	0.512																																						dbGAP											0													70.0	78.0	75.0					10																	76788956		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4374delT	10.37:g.76788956delT	ENSP00000287239:p.Thr1458fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L1460fs	ENST00000287239.4	37	c.4374	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	164	0.00	0	T	NM_012330		76788956	76788956	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	frame_shift_del	110	32.93	55	DEL	1.000	-
KAT8	84148	genome.wustl.edu	37	16	31141589	31141591	+	Splice_Site	DEL	AGA	AGA	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:31141589_31141591delAGA	ENST00000543774.2	+	9	1249_1251	c.914_916delAGA	c.(913-918)gagaag>gag	p.K306del	KAT8_ENST00000448516.2_Splice_Site_p.K306del|KAT8_ENST00000219797.4_Splice_Site_p.K306del|RP11-388M20.2_ENST00000563605.1_RNA			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	306	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										CTCCTGCAGGAGAAGGAGTCCCC	0.635																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.913-1AGA>-	16.37:g.31141589_31141591delAGA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	In_Frame_Del	DEL	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.K306in_frame_del	ENST00000543774.2	37	c.914_916	CCDS10706.1	16																																																																																			KAT8	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000103510		0.635	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	84	0.00	0	AGA	NM_032188	In_Frame_Del	31141589	31141591	+1	no_errors	ENST00000448516	ensembl	human	known	69_37n	in_frame_del	52	34.18	27	DEL	1.000:1.000:1.000	-
KBTBD12	166348	genome.wustl.edu	37	3	127649058	127649058	+	Missense_Mutation	SNP	G	G	A	rs183002701		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:127649058G>A	ENST00000405109.1	+	4	1891	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	KBTBD12_ENST00000407609.3_Missense_Mutation_p.R82Q|KBTBD12_ENST00000343941.4_Missense_Mutation_p.R50Q|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.R475Q			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	475										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGGAGTGTGCGGGCACCCATG	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19494	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													86.0	72.0	77.0					3																	127649058		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1424G>A	3.37:g.127649058G>A	ENSP00000385957:p.Arg475Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R475Q	ENST00000405109.1	37	c.1424	CCDS33848.2	3	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.76	3.886927	0.72410	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-0.22	5.91	3.09	0.35607	Kelch-type beta propeller (1);	0.000000	0.53938	D	0.000054	T	0.72293	0.3442	L	0.46567	1.45	0.30650	N	0.755558	P;B	0.52463	0.953;0.003	P;B	0.45639	0.488;0.005	T	0.72414	-0.4301	10	0.87932	D	0	.	8.9896	0.36014	0.0649:0.0:0.5572:0.3779	.	475;50	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	Q	475;82;475;50	ENSP00000385957:R475Q;ENSP00000385830:R82Q;ENSP00000385879:R475Q;ENSP00000345478:R50Q	ENSP00000345478:R50Q	R	+	2	0	KBTBD12	129131748	1.000000	0.71417	0.989000	0.46669	0.773000	0.43773	3.287000	0.51732	0.373000	0.24621	-0.312000	0.09012	CGG	KBTBD12	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.418	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	177	0.00	0	G	NM_207335		127649058	127649058	+1	no_errors	ENST00000405109	ensembl	human	known	69_37n	missense	145	36.40	83	SNP	0.980	A
KBTBD4	55709	genome.wustl.edu	37	11	47594883	47594883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:47594883delC	ENST00000526005.1	-	4	1309	c.1156delG	c.(1156-1158)gagfs	p.E387fs	KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.E412fs|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.E387fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.E403fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	387								p.E386fs*4(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TCATTCTCCTCCCCCCCTAGT	0.517																																						dbGAP											2	Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)											141.0	130.0	134.0					11																	47594883		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1156delG	11.37:g.47594883delC	ENSP00000433340:p.Glu387fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.E402fs	ENST00000526005.1	37	c.1204	CCDS7940.1	11																																																																																			KBTBD4	-	NULL	ENSG00000123444		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	203	0.00	0	C	NM_016506		47594883	47594883	-1	no_errors	ENST00000430070	ensembl	human	known	69_37n	frame_shift_del	158	32.78	79	DEL	1.000	-
KCNA6	3742	genome.wustl.edu	37	12	4920419	4920419	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:4920419G>A	ENST00000280684.3	+	1	2078	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.S404S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	404					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	ATGACGATTCGCTTTTTCCCA	0.567										HNSCC(72;0.22)																												dbGAP											0													141.0	120.0	127.0					12																	4920419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1212G>A	12.37:g.4920419G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S404	ENST00000280684.3	37	c.1212	CCDS8534.1	12																																																																																			KCNA6	-	pfam_Ion_trans_dom,pfam_Ion_trans_2	ENSG00000151079		0.567	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	322	0.00	0	G	NM_002235		4920419	4920419	+1	no_errors	ENST00000280684	ensembl	human	known	69_37n	silent	192	38.61	122	SNP	0.003	A
KCNA5	3741	genome.wustl.edu	37	12	5153915	5153915	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:5153915G>A	ENST00000252321.3	+	1	831	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	201					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GACGAGATACGCTTCTACCAG	0.637																																						dbGAP											0													46.0	49.0	48.0					12																	5153915		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.602G>A	12.37:g.5153915G>A	ENSP00000252321:p.Arg201His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R201H	ENST00000252321.3	37	c.602	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074793	0.76415	.	.	ENSG00000130037	ENST00000252321	T	0.77750	-1.12	4.77	4.77	0.60923	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000002	D	0.85287	0.5662	M	0.70903	2.155	0.50632	D	0.999881	D	0.64830	0.994	P	0.58454	0.839	D	0.87265	0.2282	10	0.72032	D	0.01	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	201	P22460	KCNA5_HUMAN	H	201	ENSP00000252321:R201H	ENSP00000252321:R201H	R	+	2	0	KCNA5	5024176	0.177000	0.23109	1.000000	0.80357	0.993000	0.82548	0.851000	0.27751	2.478000	0.83669	0.561000	0.74099	CGC	KCNA5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000130037		0.637	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	74	0.00	0	G	NM_002234		5153915	5153915	+1	no_errors	ENST00000252321	ensembl	human	known	69_37n	missense	41	43.84	32	SNP	1.000	A
KCND1	3750	genome.wustl.edu	37	X	48825564	48825564	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:48825564G>A	ENST00000218176.3	-	1	2412	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	372					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	TCACCCAAGCGTGGTCATGGT	0.458																																						dbGAP											0													69.0	56.0	60.0					X																	48825564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.1115C>T	X.37:g.48825564G>A	ENSP00000218176:p.Thr372Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.T372M	ENST00000218176.3	37	c.1115	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965067	0.74131	.	.	ENSG00000102057	ENST00000218176	D	0.99239	-5.61	5.41	5.41	0.78517	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96859	0.9631	10	0.87932	D	0	.	16.9355	0.86202	0.0:0.0:1.0:0.0	.	372	Q9NSA2	KCND1_HUMAN	M	372	ENSP00000218176:T372M	ENSP00000218176:T372M	T	-	2	0	KCND1	48710508	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.852000	0.99516	2.261000	0.74972	0.550000	0.68814	ACG	KCND1	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl	ENSG00000102057		0.458	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	177	0.00	0	G	NM_004979		48825564	48825564	-1	no_errors	ENST00000218176	ensembl	human	known	69_37n	missense	115	36.11	65	SNP	1.000	A
KCNH3	23416	genome.wustl.edu	37	12	49937857	49937857	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:49937857T>C	ENST00000257981.6	+	6	1241		c.e6+2			NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTCAACGTGGTCAGTGTGGCT	0.647																																						dbGAP											0													122.0	101.0	108.0					12																	49937857		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.981+2T>C	12.37:g.49937857T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQ06	Splice_Site	SNP	-	e6+2	ENST00000257981.6	37	c.981+2	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171419	0.78452	.	.	ENSG00000135519	ENST00000257981	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3019	0.60330	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH3	48224124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.293000	0.72731	2.106000	0.64143	0.459000	0.35465	.	KCNH3	-	-	ENSG00000135519		0.647	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	143	0.00	0	T	NM_012284	Intron	49937857	49937857	+1	no_errors	ENST00000257981	ensembl	human	known	69_37n	splice_site	89	35.00	49	SNP	1.000	C
KCNJ2	3759	genome.wustl.edu	37	17	68171419	68171419	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:68171419G>A	ENST00000243457.3	+	2	622	c.239G>A	c.(238-240)cGc>cAc	p.R80H	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R80H	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	80					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GTGGACATTCGCTGGCGGTGG	0.507																																						dbGAP											0													220.0	162.0	181.0					17																	68171419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.239G>A	17.37:g.68171419G>A	ENSP00000243457:p.Arg80His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.R80H	ENST00000243457.3	37	c.239	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311674	0.81358	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94650	-3.48;-3.48	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	M	0.88241	2.94	0.80722	D	1	D	0.53312	0.959	P	0.48840	0.592	D	0.96468	0.9346	9	.	.	.	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	80	P63252	IRK2_HUMAN	H	80	ENSP00000441848:R80H;ENSP00000243457:R80H	.	R	+	2	0	KCNJ2	65683014	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.662000	0.90505	0.555000	0.69702	CGC	KCNJ2	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.507	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	141	0.00	0	G	NM_000891		68171419	68171419	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	missense	319	16.05	61	SNP	1.000	A
KCNK4	50801	genome.wustl.edu	37	11	64064700	64064700	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:64064700G>A	ENST00000539216.1	+	3	783	c.423G>A	c.(421-423)cgG>cgA	p.R141R	KCNK4_ENST00000538767.1_Missense_Mutation_p.G75D|KCNK4_ENST00000394525.2_Silent_p.R141R|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000422670.2_Silent_p.R141R|RP11-783K16.10_ENST00000539086.1_RNA|Y_RNA_ENST00000384297.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	141					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						TCGGGGACCGGCTGGGCTCCT	0.637																																						dbGAP											0													46.0	48.0	47.0					11																	64064700		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.423G>A	11.37:g.64064700G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL1|Q96T94	Missense_Mutation	SNP	NULL	p.G75D	ENST00000539216.1	37	c.224	CCDS8067.1	11	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426596	0.25726	.	.	ENSG00000182450	ENST00000538767	.	.	.	5.36	-8.07	0.01098	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.45015	D	0.998031	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.06917	-1.0800	7	0.87932	D	0	.	4.8155	0.13365	0.2508:0.394:0.2767:0.0785	.	114;75	B4DJC9;F5GYE0	.;.	D	75	.	ENSP00000446454:G75D	G	+	2	0	KCNK4	63821276	0.130000	0.22417	0.396000	0.26296	0.972000	0.66771	-0.510000	0.06328	-1.406000	0.02045	-1.164000	0.01763	GGC	KCNK4	-	NULL	ENSG00000182450		0.637	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNK4	HGNC	protein_coding	OTTHUMT00000396430.1	52	0.00	0	G	NM_033311		64064700	64064700	+1	no_errors	ENST00000538767	ensembl	human	putative	69_37n	missense	20	45.95	17	SNP	0.096	A
KCNMA1	3778	genome.wustl.edu	37	10	78708960	78708960	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:78708960A>G	ENST00000286628.8	-	22	2648	c.2649T>C	c.(2647-2649)atT>atC	p.I883I	RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.I886I|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.I883I|KCNMA1_ENST00000406533.3_Silent_p.I887I|KCNMA1_ENST00000286627.5_Silent_p.I825I|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Silent_p.I866I|KCNMA1_ENST00000372440.1_Silent_p.I825I|RP11-443A13.5_ENST00000608791.1_RNA|KCNMA1_ENST00000372443.1_Silent_p.I825I	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	883					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGAGGTACTCAATAGAGCCCA	0.493																																						dbGAP											0													141.0	131.0	135.0					10																	78708960		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2649T>C	10.37:g.78708960A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.L776S	ENST00000286628.8	37	c.2327		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.37|15.37	2.812156|2.812156	0.50527|0.50527	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421;ENST00000434208	.|.	.|.	.|.	5.63|5.63	0.225|0.225	0.15325|0.15325	.|.	.|.	.|.	.|.	.|.	T|.	0.51363|.	0.1670|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38308|.	-0.9667|.	4|.	.|.	.|.	.|.	-11.6868|-11.6868	5.7746|5.7746	0.18271|0.18271	0.6088:0.0:0.2782:0.113|0.6088:0.0:0.2782:0.113	.|.	.|.	.|.	.|.	S|R	776|814;533	.|.	.|.	L|X	-|-	2|1	0|0	KCNMA1|KCNMA1	78378966|78378966	0.945000|0.945000	0.32115|0.32115	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.159000|0.159000	0.16442|0.16442	0.072000|0.072000	0.16694|0.16694	0.533000|0.533000	0.62120|0.62120	TTG|TGA	KCNMA1	-	NULL	ENSG00000156113		0.493	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	119	0.00	0	A	NM_002247		78708960	78708960	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372403	ensembl	human	known	69_37n	missense	79	39.69	52	SNP	0.984	G
KCNQ2	3785	genome.wustl.edu	37	20	62062704	62062704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:62062704G>T	ENST00000359125.2	-	9	1311	c.1137C>A	c.(1135-1137)taC>taA	p.Y379*	KCNQ2_ENST00000482957.1_5'Flank|KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.Y379*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.Y379*|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000344462.4_Nonsense_Mutation_p.Y379*|KCNQ2_ENST00000360480.3_Intron	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	379					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGAGGCCCCGTAGGTTTGAG	0.473																																						dbGAP											0													96.0	90.0	92.0					20																	62062704		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1137C>A	20.37:g.62062704G>T	ENSP00000352035:p.Tyr379*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.Y379*	ENST00000359125.2	37	c.1137	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	38	6.808224	0.97853	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000359689;ENST00000430658	.	.	.	4.59	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	8.9253	0.35637	0.3236:0.0:0.6764:0.0	.	.	.	.	X	379	.	ENSP00000349789:Y379X	Y	-	3	2	KCNQ2	61533148	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	0.742000	0.26216	0.356000	0.24157	0.313000	0.20887	TAC	KCNQ2	-	NULL	ENSG00000075043		0.473	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	289	0.00	0	G	NM_172109		62062704	62062704	-1	no_errors	ENST00000359125	ensembl	human	known	69_37n	nonsense	176	33.96	91	SNP	0.998	T
KCNT1	57582	genome.wustl.edu	37	9	138649006	138649006	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:138649006A>T	ENST00000263604.3	+	8	548	c.548A>T	c.(547-549)aAc>aTc	p.N183I	KCNT1_ENST00000487664.1_Missense_Mutation_p.N154I|KCNT1_ENST00000491806.2_Missense_Mutation_p.N169I|KCNT1_ENST00000488444.2_Missense_Mutation_p.N183I|KCNT1_ENST00000490355.2_Missense_Mutation_p.N183I|KCNT1_ENST00000298480.5_Missense_Mutation_p.N202I|KCNT1_ENST00000486577.2_Missense_Mutation_p.N163I|KCNT1_ENST00000371757.2_Missense_Mutation_p.N202I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	183					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCCCAGGGCAACATCTGGGAG	0.672																																						dbGAP											0													66.0	64.0	65.0					9																	138649006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.548A>T	9.37:g.138649006A>T	ENSP00000263604:p.Asn183Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.N202I	ENST00000263604.3	37	c.605		9	.	.	.	.	.	.	.	.	.	.	.	20.7	4.026917	0.75390	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.96913	1.8;1.77;1.77;-4.17;1.77	3.87	3.87	0.44632	.	0.000000	0.85682	U	0.000000	D	0.96981	0.9014	M	0.72353	2.195	0.80722	D	1	D;P;P	0.60160	0.987;0.74;0.952	P;B;P	0.59056	0.836;0.397;0.851	D	0.97149	0.9830	10	0.87932	D	0	-22.0086	12.1786	0.54199	1.0:0.0:0.0:0.0	.	169;202;154	C9JYL2;B9EGP2;G5E9V0	.;.;.	I	154;202;202;149;163;169;183;183;183	ENSP00000417851:N154I;ENSP00000298480:N202I;ENSP00000360822:N202I;ENSP00000420764:N149I;ENSP00000263604:N183I	ENSP00000263604:N183I	N	+	2	0	KCNT1	137788827	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.684000	0.91242	1.535000	0.49220	0.373000	0.22412	AAC	KCNT1	-	NULL	ENSG00000107147		0.672	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		76	0.00	0	A	NM_020822		138649006	138649006	+1	no_errors	ENST00000298480	ensembl	human	known	69_37n	missense	34	44.26	27	SNP	1.000	T
KCNV1	27012	genome.wustl.edu	37	8	110980363	110980363	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:110980363T>C	ENST00000524391.1	-	4	2489	c.1457A>G	c.(1456-1458)gAa>gGa	p.E486G	KCNV1_ENST00000297404.1_Missense_Mutation_p.E486G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	486					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACTTGCTCTTTCTCTGCCTTT	0.373																																						dbGAP											0													78.0	74.0	75.0					8																	110980363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1457A>G	8.37:g.110980363T>C	ENSP00000435954:p.Glu486Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.E486G	ENST00000524391.1	37	c.1457	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	T	21.0	4.090068	0.76756	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97688	-4.49;-4.49	5.52	5.52	0.82312	.	0.176234	0.48767	D	0.000169	D	0.97216	0.9090	N	0.24115	0.695	0.58432	D	0.999999	D	0.71674	0.998	D	0.70227	0.968	D	0.98519	1.0622	10	0.72032	D	0.01	.	14.8249	0.70104	0.0:0.0:0.0:1.0	.	486	Q6PIU1	KCNV1_HUMAN	G	486;486;362	ENSP00000435954:E486G;ENSP00000297404:E486G	ENSP00000297404:E486G	E	-	2	0	KCNV1	111049539	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.421000	0.59848	2.080000	0.62538	0.460000	0.39030	GAA	KCNV1	-	NULL	ENSG00000164794		0.373	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	251	0.79	2	T	NM_014379		110980363	110980363	-1	no_errors	ENST00000297404	ensembl	human	known	69_37n	missense	193	36.30	110	SNP	1.000	C
KCTD19	146212	genome.wustl.edu	37	16	67325658	67325658	+	Frame_Shift_Del	DEL	G	G	-	rs201413788		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:67325658delG	ENST00000304372.5	-	13	2356	c.2301delC	c.(2299-2301)cccfs	p.P767fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	767					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGCCCACCACGGGGGGGTGAG	0.577																																						dbGAP											0													52.0	57.0	55.0					16																	67325658		1969	4150	6119	-	-	-	SO:0001589	frameshift_variant	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2301delC	16.37:g.67325658delG	ENSP00000305702:p.Pro767fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ49|Q8N804	Frame_Shift_Del	DEL	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.V768fs	ENST00000304372.5	37	c.2301	CCDS42179.1	16																																																																																			KCTD19	-	NULL	ENSG00000168676		0.577	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	179	0.00	0	G	XM_085367		67325658	67325658	-1	no_errors	ENST00000304372	ensembl	human	known	69_37n	frame_shift_del	124	29.05	52	DEL	0.051	-
KDM5C	8242	genome.wustl.edu	37	X	53223476	53223476	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:53223476C>G	ENST00000375401.3	-	23	4415	c.3883G>C	c.(3883-3885)Gct>Cct	p.A1295P	KDM5C_ENST00000404049.3_Missense_Mutation_p.A1294P|KDM5C_ENST00000375383.3_Missense_Mutation_p.A1254P|KDM5C_ENST00000375379.3_Missense_Mutation_p.A1295P|KDM5C_ENST00000452825.3_Missense_Mutation_p.A1228P	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1295					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAGGCCAGAGCCTGCCTGGCG	0.652			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													29.0	27.0	28.0					X																	53223476		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3883G>C	X.37:g.53223476C>G	ENSP00000364550:p.Ala1295Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.A1295P	ENST00000375401.3	37	c.3883	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	15.67	2.903550	0.52333	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38	4.58	4.58	0.56647	.	0.175220	0.49305	D	0.000145	T	0.06600	0.0169	M	0.80183	2.485	0.37897	D	0.9309	D;D;D	0.67145	0.996;0.988;0.967	D;P;P	0.68192	0.956;0.791;0.701	T	0.12041	-1.0563	10	0.54805	T	0.06	-5.4215	14.0095	0.64486	0.0:1.0:0.0:0.0	.	1228;1294;1295	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	P	1228;1295;1294;1295;1254	ENSP00000445176:A1228P;ENSP00000364550:A1295P;ENSP00000385394:A1294P;ENSP00000364528:A1295P;ENSP00000364532:A1254P	ENSP00000364528:A1295P	A	-	1	0	KDM5C	53240201	0.995000	0.38212	1.000000	0.80357	0.362000	0.29581	1.692000	0.37731	1.875000	0.54330	0.525000	0.51046	GCT	KDM5C	-	NULL	ENSG00000126012		0.652	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	42	0.00	0	C	NM_004187		53223476	53223476	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	missense	20	56.52	26	SNP	1.000	G
KDM6A	7403	genome.wustl.edu	37	X	44942009	44942009	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:44942009A>G	ENST00000377967.4	+	22	3300	c.3259A>G	c.(3259-3261)Aat>Gat	p.N1087D	KDM6A_ENST00000382899.4_Missense_Mutation_p.N1094D|KDM6A_ENST00000536777.1_Missense_Mutation_p.N1042D|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1008D	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1087	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTTTGGGACCAATATTGACCT	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											109.0	101.0	104.0					X																	44942009		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3259A>G	X.37:g.44942009A>G	ENSP00000367203:p.Asn1087Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N1094D	ENST00000377967.4	37	c.3280	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.6|28.6	4.933338|4.933338	0.92458|0.92458	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.79845|.	-1.31;-1.31;-1.31;-1.31|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80071|0.80071	0.4556|0.4556	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;B;D;P;B|.	0.63880|.	0.993;0.143;0.982;0.754;0.34|.	D;B;P;P;B|.	0.70935|.	0.971;0.117;0.782;0.493;0.234|.	D|D	0.83556|0.83556	0.0104|0.0104	10|5	0.87932|.	D|.	0|.	-1.2424|-1.2424	14.4571|14.4571	0.67423|0.67423	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	726;1094;1042;1139;1087|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	D|R	784;1087;1042;1094;1008|684;729	ENSP00000367203:N1087D;ENSP00000437405:N1042D;ENSP00000372355:N1094D;ENSP00000443078:N1008D|.	ENSP00000334340:N784D|.	N|Q	+|+	1|2	0|0	KDM6A|KDM6A	44826953|44826953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.917000|8.917000	0.92751|0.92751	1.793000|1.793000	0.52555|0.52555	0.437000|0.437000	0.28790|0.28790	AAT|CAA	KDM6A	-	NULL	ENSG00000147050		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	519	0.00	0	A	NM_021140		44942009	44942009	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	missense	327	37.60	197	SNP	1.000	G
KDM6A	7403	genome.wustl.edu	37	X	44949997	44949997	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:44949997T>C	ENST00000377967.4	+	26	3807	c.3766T>C	c.(3766-3768)Tac>Cac	p.Y1256H	KDM6A_ENST00000382899.4_Missense_Mutation_p.Y1263H|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y1211H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y1177H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1256	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGTGGAACGGTACGAATGGAA	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											157.0	130.0	139.0					X																	44949997		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3766T>C	X.37:g.44949997T>C	ENSP00000367203:p.Tyr1256His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y1263H	ENST00000377967.4	37	c.3787	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.18|19.18	3.777276|3.777276	0.70107|0.70107	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.73047	.|-0.71;-0.71;-0.71;-0.71	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84070|0.84070	0.5391|0.5391	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;0.999;1.0;1.0;0.999	.|D;D;D;D;D	.|0.87578	.|0.991;0.996;0.994;0.996;0.998	D|D	0.86317|0.86317	0.1690|0.1690	5|10	.|0.87932	.|D	.|0	-11.5031|-11.5031	14.8446|14.8446	0.70251|0.70251	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|895;1263;1211;1308;1256	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	A|H	853;898|953;1256;1211;1263;1177	.|ENSP00000367203:Y1256H;ENSP00000437405:Y1211H;ENSP00000372355:Y1263H;ENSP00000443078:Y1177H	.|ENSP00000334340:Y953H	V|Y	+|+	2|1	0|0	KDM6A|KDM6A	44834941|44834941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	1.887000|1.887000	0.54652|0.54652	0.430000|0.430000	0.28490|0.28490	GTA|TAC	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	461	0.00	0	T	NM_021140		44949997	44949997	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	missense	349	32.38	169	SNP	1.000	C
KDM5C	8242	genome.wustl.edu	37	X	53223478	53223478	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:53223478T>A	ENST00000375401.3	-	23	4413	c.3881A>T	c.(3880-3882)cAg>cTg	p.Q1294L	KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1293L|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1253L|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1294L|KDM5C_ENST00000452825.3_Missense_Mutation_p.Q1227L	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1294					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCCAGAGCCTGCCTGGCGCG	0.647			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													28.0	27.0	27.0					X																	53223478		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.3881A>T	X.37:g.53223478T>A	ENSP00000364550:p.Gln1294Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.Q1294L	ENST00000375401.3	37	c.3881	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	t	10.49	1.364767	0.24684	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.01099	5.34;5.34;5.34;5.34;5.34	4.58	3.16	0.36331	.	0.287090	0.35067	N	0.003468	T	0.02455	0.0075	M	0.75615	2.305	0.30765	N	0.743635	P;P;P	0.49253	0.921;0.474;0.871	P;B;P	0.47470	0.543;0.347;0.548	T	0.08391	-1.0724	10	0.87932	D	0	-16.5726	5.3364	0.15959	0.0:0.2526:0.0:0.7474	.	1227;1293;1294	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	L	1227;1294;1293;1294;1253	ENSP00000445176:Q1227L;ENSP00000364550:Q1294L;ENSP00000385394:Q1293L;ENSP00000364528:Q1294L;ENSP00000364532:Q1253L	ENSP00000364528:Q1294L	Q	-	2	0	KDM5C	53240203	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	4.218000	0.58554	1.508000	0.48769	0.427000	0.28365	CAG	KDM5C	-	NULL	ENSG00000126012		0.647	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	42	0.00	0	T	NM_004187		53223478	53223478	-1	no_errors	ENST00000375401	ensembl	human	known	69_37n	missense	21	54.35	25	SNP	0.996	A
KDM8	79831	genome.wustl.edu	37	16	27221801	27221801	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:27221801C>A	ENST00000286096.4	+	2	530	c.357C>A	c.(355-357)gcC>gcA	p.A119A	KDM8_ENST00000568965.1_Silent_p.A119A|KDM8_ENST00000380948.2_Silent_p.A119A|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000441782.2_Silent_p.A157A	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	119					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										TGGCCGCAGCCCTGCGGGTCT	0.617																																						dbGAP											0													29.0	31.0	31.0					16																	27221801		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.357C>A	16.37:g.27221801C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.A157	ENST00000286096.4	37	c.471	CCDS10627.1	16																																																																																			KDM8	-	NULL	ENSG00000155666		0.617	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	32	0.00	0	C	NM_024773		27221801	27221801	+1	no_errors	ENST00000441782	ensembl	human	known	69_37n	silent	15	46.43	13	SNP	0.915	A
KDM8	79831	genome.wustl.edu	37	16	27221874	27221874	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:27221874A>G	ENST00000286096.4	+	2	603	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	KDM8_ENST00000568965.1_Missense_Mutation_p.I144V|KDM8_ENST00000380948.2_Missense_Mutation_p.I144V|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000441782.2_Missense_Mutation_p.I182V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	144					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										AGTCGCTGCCATCCTCCAGAC	0.612																																						dbGAP											0													25.0	26.0	26.0					16																	27221874		2197	4298	6495	-	-	-	SO:0001583	missense	0			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.430A>G	16.37:g.27221874A>G	ENSP00000286096:p.Ile144Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.I182V	ENST00000286096.4	37	c.544	CCDS10627.1	16	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.155775	0.00325	.	.	ENSG00000155666	ENST00000380948;ENST00000286096;ENST00000441782	T;T	0.22945	1.95;1.93	5.66	-2.07	0.07276	.	0.565985	0.20581	N	0.089528	T	0.07773	0.0195	N	0.02539	-0.55	0.18873	N	0.999984	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.006;0.003;0.002	T	0.36696	-0.9737	10	0.07030	T	0.85	-19.1181	11.465	0.50232	0.1053:0.0985:0.7961:0.0	.	182;144;144	Q8N371-3;Q8N371-2;Q8N371	.;.;KDM8_HUMAN	V	144;144;182	ENSP00000286096:I144V;ENSP00000398410:I182V	ENSP00000286096:I144V	I	+	1	0	JMJD5	27129375	0.007000	0.16637	0.025000	0.17156	0.075000	0.17131	0.052000	0.14163	-0.672000	0.05266	-0.250000	0.11733	ATC	KDM8	-	NULL	ENSG00000155666		0.612	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	30	0.00	0	A	NM_024773		27221874	27221874	+1	no_errors	ENST00000441782	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	0.027	G
KHSRP	8570	genome.wustl.edu	37	19	6415897	6415898	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:6415897_6415898insC	ENST00000398148.3	-	16	1700_1701	c.1608_1609insG	c.(1606-1611)gggcccfs	p.P537fs	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	537	Ala/Gly/Pro-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGAGGAGGGGGCCCCCCGGCAC	0.663																																					Colon(55;593 1006 2067 9135 22980)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1609dupG	19.37:g.6415903_6415903dupC	ENSP00000381216:p.Pro537fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Frame_Shift_Ins	INS	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.P536fs	ENST00000398148.3	37	c.1609_1608	CCDS45936.1	19																																																																																			KHSRP	-	NULL	ENSG00000088247		0.663	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1	12	0.00	0	-			6415897	6415898	-1	no_errors	ENST00000398148	ensembl	human	known	69_37n	frame_shift_ins	13	48.00	12	INS	1.000:0.001	C
SPIDR	23514	genome.wustl.edu	37	8	48353052	48353052	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:48353052G>A	ENST00000297423.4	+	8	1429	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	SPIDR_ENST00000541342.1_Missense_Mutation_p.A279T|SPIDR_ENST00000518074.1_Missense_Mutation_p.A289T|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	349	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											CAAGGAGACTGCAGGCTACCT	0.587																																						dbGAP											0													54.0	56.0	55.0					8																	48353052		1959	4144	6103	-	-	-	SO:0001583	missense	0			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1045G>A	8.37:g.48353052G>A	ENSP00000297423:p.Ala349Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.A349T	ENST00000297423.4	37	c.1045	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.275958	0.95459	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.	.	.	5.45	5.45	0.79879	.	0.065668	0.64402	D	0.000016	T	0.79246	0.4413	M	0.71581	2.175	0.45076	D	0.998096	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.989;0.982;0.989	T	0.80246	-0.1462	9	0.59425	D	0.04	.	18.8845	0.92370	0.0:0.0:1.0:0.0	.	289;279;349;349	B4E0Y6;B4DFV2;B4DEV5;Q14159	.;.;.;K0146_HUMAN	T	349;289;279;38	.	ENSP00000297423:A349T	A	+	1	0	KIAA0146	48515605	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	6.159000	0.71856	2.564000	0.86499	0.655000	0.94253	GCA	KIAA0146	-	NULL	ENSG00000164808		0.587	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	86	0.00	0	G	NM_001080394		48353052	48353052	+1	no_errors	ENST00000297423	ensembl	human	known	69_37n	missense	56	40.43	38	SNP	1.000	A
GSE1	23199	genome.wustl.edu	37	16	85695039	85695039	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:85695039C>A	ENST00000253458.7	+	9	2104	c.1928C>A	c.(1927-1929)cCt>cAt	p.P643H	GSE1_ENST00000405402.2_Missense_Mutation_p.P539H|GSE1_ENST00000393243.1_Missense_Mutation_p.P570H|RN7SL381P_ENST00000577658.1_RNA	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	643	Pro-rich.																AAGCGTGAGCCTGCCCCTCTG	0.701																																						dbGAP											0													19.0	24.0	23.0					16																	85695039		2194	4290	6484	-	-	-	SO:0001583	missense	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1928C>A	16.37:g.85695039C>A	ENSP00000253458:p.Pro643His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	pfam_DUF3736	p.P643H	ENST00000253458.7	37	c.1928	CCDS10952.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.197|9.197	1.027539|1.027539	0.19512|0.19512	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000253458;ENST00000393243	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	4.47|4.47	3.51|3.51	0.40186|0.40186	.|.	.|0.586803	.|0.17170	.|N	.|0.184324	T|T	0.23688|0.23688	0.0573|0.0573	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999995|0.999995	.|D;D	.|0.59357	.|0.985;0.975	.|P;P	.|0.54060	.|0.741;0.555	T|T	0.03706|0.03706	-1.1011|-1.1011	5|10	.|0.51188	.|T	.|0.08	-2.4883|-2.4883	7.3617|7.3617	0.26750|0.26750	0.0:0.7262:0.0:0.2738|0.0:0.7262:0.0:0.2738	.|.	.|570;643	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	M|H	450|539;643;570	.|ENSP00000384839:P539H;ENSP00000253458:P643H;ENSP00000376934:P570H	.|ENSP00000253458:P643H	L|P	+|+	1|2	2|0	KIAA0182|KIAA0182	84252540|84252540	0.754000|0.754000	0.28360|0.28360	0.544000|0.544000	0.28141|0.28141	0.080000|0.080000	0.17528|0.17528	1.457000|1.457000	0.35212|0.35212	1.008000|1.008000	0.39264|0.39264	0.561000|0.561000	0.74099|0.74099	CTG|CCT	KIAA0182	-	NULL	ENSG00000131149		0.701	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA0182	HGNC	protein_coding	OTTHUMT00000325527.1	8	0.00	0	C	NM_014615		85695039	85695039	+1	no_errors	ENST00000253458	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.515	A
KIAA0195	9772	genome.wustl.edu	37	17	73493880	73493881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:73493880_73493881insC	ENST00000314256.7	+	27	3820_3821	c.3426_3427insC	c.(3427-3429)cccfs	p.P1143fs	KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.P1153fs|KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.P794fs|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1143						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGGGAAGCCCCCCCATAG	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3433dupC	17.37:g.73493887_73493887dupC	ENSP00000313885:p.Pro1143fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75536|Q86XF1	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_cation-transptr_C	p.H1144fs	ENST00000314256.7	37	c.3426_3427	CCDS32732.1	17																																																																																			KIAA0195	-	pfam_ATPase_P-typ_cation-transptr_C	ENSG00000177728		0.520	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	218	0.00	0	-	NM_014738		73493880	73493881	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	frame_shift_ins	351	13.55	55	INS	1.000:1.000	C
KIAA0319L	79932	genome.wustl.edu	37	1	35906469	35906469	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:35906469G>A	ENST00000325722.3	-	20	3197				KIAA0319L_ENST00000373266.4_Intron|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like							cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTCCTGGAGGCATTTTGTCC	0.537																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2962+178C>T	1.37:g.35906469G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	RNA	SNP	-	NULL	ENST00000325722.3	37	NULL	CCDS390.1	1																																																																																			KIAA0319L	-	-	ENSG00000142687		0.537	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	35	0.00	0	G	NM_024874		35906469	35906469	-1	no_errors	ENST00000485551	ensembl	human	known	69_37n	rna	16	30.43	7	SNP	0.000	A
CLUH	23277	genome.wustl.edu	37	17	2593958	2593958	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:2593958G>A	ENST00000570628.2	-	26	3965	c.3860C>T	c.(3859-3861)gCg>gTg	p.A1287V	RP11-74E22.6_ENST00000608984.1_lincRNA|CLUH_ENST00000538975.1_Missense_Mutation_p.A1287V|CLUH_ENST00000435359.1_Missense_Mutation_p.A1287V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1287					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											TGGGGCCCCCGCTGGCGCGGG	0.697																																						dbGAP											0													13.0	17.0	16.0					17																	2593958		1805	4043	5848	-	-	-	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3860C>T	17.37:g.2593958G>A	ENSP00000458986:p.Ala1287Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP/TIF31_domain	p.A1287V	ENST00000570628.2	37	c.3860	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	G	5.177	0.218160	0.09810	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80994	-1.44;-1.44	5.22	-1.77	0.07982	.	0.583280	0.16685	N	0.203783	T	0.57784	0.2077	N	0.19112	0.55	0.09310	N	1	B;B	0.28801	0.012;0.223	B;B	0.17722	0.007;0.019	T	0.42599	-0.9442	10	0.30078	T	0.28	.	4.8004	0.13294	0.4011:0.0:0.457:0.1418	.	1287;1288	O75153;C9J6D7	K0664_HUMAN;.	V	1287;1288;1287	ENSP00000388872:A1287V;ENSP00000439628:A1287V	ENSP00000320468:A1288V	A	-	2	0	KIAA0664	2540708	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.185000	0.09684	-0.191000	0.10448	0.591000	0.81541	GCG	KIAA0664	-	NULL	ENSG00000132361		0.697	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	29	0.00	0	G	NM_015229		2593958	2593958	-1	no_errors	ENST00000435359	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	0.000	A
CLUH	23277	genome.wustl.edu	37	17	2607685	2607685	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:2607685C>T	ENST00000570628.2	-	2	265	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	CLUH_ENST00000538975.1_Missense_Mutation_p.A54T|CLUH_ENST00000435359.1_Missense_Mutation_p.A54T			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	54					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											ATCCCAGGGGCGAGGATCTTC	0.627																																						dbGAP											0													34.0	38.0	37.0					17																	2607685		1931	4128	6059	-	-	-	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.160G>A	17.37:g.2607685C>T	ENSP00000458986:p.Ala54Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP/TIF31_domain	p.A54T	ENST00000570628.2	37	c.160	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864735	0.71949	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80393	-1.37;-1.37	5.22	4.24	0.50183	.	0.238554	0.41500	D	0.000879	T	0.71298	0.3323	L	0.39245	1.2	0.48762	D	0.999701	B	0.32604	0.377	B	0.29440	0.102	T	0.66732	-0.5849	10	0.22109	T	0.4	.	14.2688	0.66138	0.15:0.85:0.0:0.0	.	54	O75153	K0664_HUMAN	T	54	ENSP00000388872:A54T;ENSP00000439628:A54T	ENSP00000320468:A54T	A	-	1	0	KIAA0664	2554435	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.043000	0.71004	1.170000	0.42753	0.514000	0.50259	GCC	KIAA0664	-	NULL	ENSG00000132361		0.627	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0664	HGNC	protein_coding	OTTHUMT00000437807.2	65	0.00	0	C	NM_015229		2607685	2607685	-1	no_errors	ENST00000435359	ensembl	human	known	69_37n	missense	46	40.74	33	SNP	1.000	T
KIAA0907	22889	genome.wustl.edu	37	1	155891696	155891696	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155891696T>C	ENST00000368321.3	-	9	991	c.968A>G	c.(967-969)tAc>tGc	p.Y323C	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Y323C|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.Y323C	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	323							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AAATCTAGAGTATTCAGCATG	0.373																																						dbGAP											0													67.0	68.0	67.0					1																	155891696		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.968A>G	1.37:g.155891696T>C	ENSP00000357304:p.Tyr323Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	NULL	p.Y323C	ENST00000368321.3	37	c.968	CCDS30885.1	1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.704048	0.68615	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.44482	0.92;0.92;0.92	5.94	5.94	0.96194	.	0.119478	0.64402	D	0.000015	T	0.57873	0.2083	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.83275	0.99;0.996;0.979	T	0.64011	-0.6507	10	0.87932	D	0	-4.5765	14.6189	0.68569	0.0:0.0:0.0:1.0	.	323;323;323	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	C	323	ENSP00000357304:Y323C;ENSP00000357303:Y323C;ENSP00000357302:Y323C	ENSP00000357302:Y323C	Y	-	2	0	KIAA0907	154158320	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.245000	0.72398	2.276000	0.75962	0.397000	0.26171	TAC	KIAA0907	-	NULL	ENSG00000132680		0.373	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	216	0.46	1	T	NM_014949		155891696	155891696	-1	no_errors	ENST00000368321	ensembl	human	known	69_37n	missense	366	16.36	72	SNP	1.000	C
KIAA0922	23240	genome.wustl.edu	37	4	154542925	154542925	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:154542925A>G	ENST00000409663.3	+	28	3832	c.3780A>G	c.(3778-3780)atA>atG	p.I1260M	KIAA0922_ENST00000440693.1_Missense_Mutation_p.I1177M|KIAA0922_ENST00000409959.3_Missense_Mutation_p.I1261M	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1260						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GCTGGTGTATACAGGAAAGCA	0.463																																						dbGAP											0													158.0	147.0	151.0					4																	154542925		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3780A>G	4.37:g.154542925A>G	ENSP00000386574:p.Ile1260Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.I1261M	ENST00000409663.3	37	c.3783	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	A	10.74	1.436057	0.25813	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.17370	2.54;2.28;2.54;2.28	5.5	-7.61	0.01299	.	2.173200	0.01395	N	0.013374	T	0.10680	0.0261	L	0.36672	1.1	0.09310	N	1	B;B;B	0.15141	0.005;0.012;0.007	B;B;B	0.12837	0.008;0.005;0.002	T	0.17107	-1.0380	10	0.48119	T	0.1	2.5177	0.3406	0.00333	0.2421:0.1794:0.2625:0.316	.	1177;1261;1260	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	M	1260;1177;1261;1038	ENSP00000386574:I1260M;ENSP00000409663:I1177M;ENSP00000386787:I1261M;ENSP00000240487:I1038M	ENSP00000240487:I1038M	I	+	3	3	KIAA0922	154762375	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.350000	0.07721	-1.857000	0.01159	0.533000	0.62120	ATA	KIAA0922	-	NULL	ENSG00000121210		0.463	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	519	0.00	0	A	NM_015196		154542925	154542925	+1	no_errors	ENST00000409959	ensembl	human	known	69_37n	missense	342	36.25	195	SNP	0.000	G
KIAA1033	23325	genome.wustl.edu	37	12	105546180	105546180	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:105546180T>C	ENST00000332180.5	+	26	2796	c.2709T>C	c.(2707-2709)ccT>ccC	p.P903P		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGTAACACCTGAGGGACAGA	0.373																																						dbGAP											0													83.0	79.0	81.0					12																	105546180		1843	4092	5935	-	-	-	SO:0001819	synonymous_variant	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2709T>C	12.37:g.105546180T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P903	ENST00000332180.5	37	c.2709	CCDS41826.1	12																																																																																			KIAA1033	-	NULL	ENSG00000136051		0.373	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	167	0.00	0	T	NM_015275		105546180	105546180	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	silent	105	35.37	58	SNP	1.000	C
KIAA1033	23325	genome.wustl.edu	37	12	105553823	105553823	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:105553823A>G	ENST00000332180.5	+	29	3044	c.2957A>G	c.(2956-2958)gAa>gGa	p.E986G		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AATTCTGCCGAAGGCACAGAA	0.368																																						dbGAP											0													99.0	101.0	100.0					12																	105553823		1806	4074	5880	-	-	-	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2957A>G	12.37:g.105553823A>G	ENSP00000328062:p.Glu986Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E986G	ENST00000332180.5	37	c.2957	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823341	0.71143	.	.	ENSG00000136051	ENST00000332180;ENST00000551224	T;T	0.78816	-1.21;-1.21	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	L	0.52759	1.655	0.80722	D	1	B;B	0.32101	0.356;0.356	B;B	0.36719	0.231;0.231	T	0.76876	-0.2797	10	0.59425	D	0.04	.	14.9475	0.71044	1.0:0.0:0.0:0.0	.	987;986	B7ZKT9;Q2M389	.;WASH7_HUMAN	G	986;64	ENSP00000328062:E986G;ENSP00000447015:E64G	ENSP00000328062:E986G	E	+	2	0	KIAA1033	104077953	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	9.228000	0.95250	1.932000	0.55993	0.477000	0.44152	GAA	KIAA1033	-	NULL	ENSG00000136051		0.368	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	102	0.00	0	A	NM_015275		105553823	105553823	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	missense	63	27.27	24	SNP	1.000	G
KIAA1244	57221	genome.wustl.edu	37	6	138619770	138619770	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:138619770T>A	ENST00000251691.4	+	22	3842	c.3676T>A	c.(3676-3678)Tct>Act	p.S1226T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAGACATGTGTCTCAGAAGGC	0.473																																						dbGAP											0													104.0	85.0	91.0					6																	138619770		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3676T>A	6.37:g.138619770T>A	ENSP00000251691:p.Ser1226Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.S1226T	ENST00000251691.4	37	c.3676	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883370	0.91740	.	.	ENSG00000112379	ENST00000251691	T	0.24350	1.86	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.39502	-0.9611	10	0.72032	D	0.01	-26.241	15.5208	0.75866	0.0:0.0:0.0:1.0	.	1226	Q5TH69	BIG3_HUMAN	T	1226	ENSP00000251691:S1226T	ENSP00000251691:S1226T	S	+	1	0	KIAA1244	138661463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.083000	0.62718	0.454000	0.30748	TCT	KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.473	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	200	0.49	1	T	NM_020340		138619770	138619770	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	missense	156	36.03	89	SNP	1.000	A
KIAA1324L	222223	genome.wustl.edu	37	7	86569340	86569340	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:86569340delT	ENST00000450689.2	-	6	1018	c.833delA	c.(832-834)aatfs	p.N278fs	KIAA1324L_ENST00000297222.6_Frame_Shift_Del_p.N38fs|KIAA1324L_ENST00000444627.1_Frame_Shift_Del_p.N278fs|KIAA1324L_ENST00000416314.1_Frame_Shift_Del_p.N111fs	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	278						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AATTGTGATATTTTTTACCAG	0.373																																						dbGAP											0													135.0	125.0	128.0					7																	86569340		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.833delA	7.37:g.86569340delT	ENSP00000413445:p.Asn278fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Frame_Shift_Del	DEL	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.N278fs	ENST00000450689.2	37	c.833	CCDS47632.1	7																																																																																			KIAA1324L	-	superfamily_Growth_fac_rcpt	ENSG00000164659		0.373	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	251	0.00	0	T	NM_152748		86569340	86569340	-1	no_errors	ENST00000450689	ensembl	human	known	69_37n	frame_shift_del	184	36.30	106	DEL	1.000	-
KIAA1328	57536	genome.wustl.edu	37	18	34752976	34752976	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:34752976T>C	ENST00000280020.5	+	9	1477	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	KIAA1328_ENST00000586135.1_Silent_p.P237P|KIAA1328_ENST00000591619.1_Silent_p.P481P|KIAA1328_ENST00000435985.2_Silent_p.P237P|KIAA1328_ENST00000543923.1_Silent_p.P377P	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	485										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CTACATCTCCTATGCCAACAG	0.383																																						dbGAP											0													148.0	152.0	151.0					18																	34752976		2025	4192	6217	-	-	-	SO:0001819	synonymous_variant	0			AB037749	CCDS45855.1	18q12.2	2011-12-12			ENSG00000150477	ENSG00000150477			29248	protein-coding gene	gene with protein product						10718198	Standard	XM_005258317		Approved		uc002kzz.3	Q86T90		ENST00000280020.5:c.1455T>C	18.37:g.34752976T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	NULL	p.L509P	ENST00000280020.5	37	c.1526	CCDS45855.1	18																																																																																			KIAA1328	-	NULL	ENSG00000150477		0.383	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1328	HGNC	protein_coding	OTTHUMT00000440455.1	252	0.00	0	T	NM_020776		34752976	34752976	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000587139	ensembl	human	putative	69_37n	missense	203	31.65	94	SNP	0.976	C
KIAA1462	57608	genome.wustl.edu	37	10	30317579	30317579	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:30317579G>A	ENST00000375377.1	-	3	1599	c.1498C>T	c.(1498-1500)Ctg>Ttg	p.L500L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	500					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGCCCCACAGCCACCGGGGG	0.632																																						dbGAP											0													50.0	54.0	53.0					10																	30317579		1851	4085	5936	-	-	-	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1498C>T	10.37:g.30317579G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.L500	ENST00000375377.1	37	c.1498	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	35	0.00	0	G	NM_020848		30317579	30317579	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	silent	26	34.15	14	SNP	0.936	A
KIAA1549L	25758	genome.wustl.edu	37	11	33565451	33565451	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:33565451C>T	ENST00000321505.4	+	1	1631	c.1451C>T	c.(1450-1452)aCa>aTa	p.T484I	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T484I|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T484I			Q6ZVL6	K154L_HUMAN	KIAA1549-like	484						integral component of membrane (GO:0016021)											GTCCTCGGTACAAGCATTGAG	0.468																																						dbGAP											0													127.0	122.0	124.0					11																	33565451		1951	4155	6106	-	-	-	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1451C>T	11.37:g.33565451C>T	ENSP00000315295:p.Thr484Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYU0	Missense_Mutation	SNP	NULL	p.T484I	ENST00000321505.4	37	c.1451	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	C	0.167	-1.075155	0.01903	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.35	-3.33	0.04958	.	1.652070	0.03211	N	0.176225	T	0.40247	0.1109	L	0.51422	1.61	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.15484	0.0;0.013	T	0.26849	-1.0091	9	0.35671	T	0.21	1.02	7.0062	0.24838	0.0:0.3941:0.1211:0.4847	.	484;484	E9PAT2;Q6ZVL6-2	.;.	I	484;484;484;324	.	ENSP00000265654:T484I	T	+	2	0	C11orf41	33522027	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.425000	0.07017	-0.504000	0.06577	0.442000	0.29010	ACA	KIAA1549L	-	NULL	ENSG00000110427		0.468	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	249	0.40	1	C	NM_012194		33565451	33565451	+1	no_errors	ENST00000389726	ensembl	human	known	69_37n	missense	156	37.55	95	SNP	0.000	T
KIAA1683	80726	genome.wustl.edu	37	19	18375212	18375212	+	Intron	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:18375212C>A	ENST00000600328.3	-	3	2810				KIAA1683_ENST00000392413.4_Missense_Mutation_p.W1046C|KIAA1683_ENST00000600359.3_Intron			Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GGGAGGGCCCCCATGCGGCCG	0.657																																						dbGAP											0													30.0	35.0	34.0					19																	18375212		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2616+521G>T	19.37:g.18375212C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.W1046C	ENST00000600328.3	37	c.3138	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574689	0.13623	.	.	ENSG00000130518	ENST00000392413	T	0.08008	3.14	3.49	1.06	0.20224	.	.	.	.	.	T	0.04679	0.0127	N	0.12182	0.205	0.09310	N	0.999999	B	0.33748	0.423	B	0.28784	0.094	T	0.38693	-0.9649	9	0.87932	D	0	.	9.0151	0.36164	0.0:0.5506:0.4494:0.0	.	1046	E9PDE0	.	C	1046	ENSP00000376213:W1046C	ENSP00000376213:W1046C	W	-	3	0	KIAA1683	18236212	0.007000	0.16637	0.063000	0.19743	0.049000	0.14656	0.157000	0.16402	0.798000	0.33994	0.467000	0.42956	TGG	KIAA1683	-	NULL	ENSG00000130518		0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	36	0.00	0	C			18375212	18375212	-1	no_errors	ENST00000392413	ensembl	human	known	69_37n	missense	8	82.98	39	SNP	0.006	A
KIAA1731	85459	genome.wustl.edu	37	11	93416894	93416894	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:93416894A>G	ENST00000325212.6	+	8	1097	c.935A>G	c.(934-936)tAc>tGc	p.Y312C	KIAA1731_ENST00000411936.1_Missense_Mutation_p.Y312C|KIAA1731_ENST00000344196.4_5'UTR			Q9C0D2	K1731_HUMAN	KIAA1731	312						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAGATATGTACAATGCAGAC	0.358																																						dbGAP											0													156.0	140.0	145.0					11																	93416894		692	1591	2283	-	-	-	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.935A>G	11.37:g.93416894A>G	ENSP00000316681:p.Tyr312Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.Y312C	ENST00000325212.6	37	c.935	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651459	0.47362	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.19669	2.14;2.13	5.23	4.09	0.47781	.	0.195769	0.25469	N	0.030456	T	0.26011	0.0634	M	0.62723	1.935	0.80722	D	1	P	0.52061	0.95	P	0.46275	0.51	T	0.02457	-1.1156	10	0.72032	D	0.01	-0.6121	8.4566	0.32903	0.7979:0.1318:0.0703:0.0	.	312	Q9C0D2	K1731_HUMAN	C	312	ENSP00000316681:Y312C;ENSP00000406505:Y312C	ENSP00000316681:Y312C	Y	+	2	0	KIAA1731	93056542	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.199000	0.72112	0.912000	0.36772	-0.321000	0.08615	TAC	KIAA1731	-	NULL	ENSG00000166004		0.358	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	262	0.00	0	A	NM_033395		93416894	93416894	+1	no_errors	ENST00000411936	ensembl	human	known	69_37n	missense	149	40.40	101	SNP	1.000	G
KIDINS220	57498	genome.wustl.edu	37	2	8870951	8870951	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:8870951G>A	ENST00000256707.3	-	30	5396	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1720C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1720C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1640C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1739					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAACTTGAACGTTGGCTTCGC	0.463																																						dbGAP											0													165.0	153.0	157.0					2																	8870951		1918	4126	6044	-	-	-	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.5215C>T	2.37:g.8870951G>A	ENSP00000256707:p.Arg1739Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1739C	ENST00000256707.3	37	c.5215	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697681	0.68386	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.70282	-0.47;-0.45;-0.44;-0.45	5.93	5.93	0.95920	.	0.167591	0.49305	D	0.000153	T	0.78381	0.4274	L	0.27053	0.805	0.53688	D	0.999971	D;D;D	0.89917	1.0;0.999;1.0	P;P;D	0.91635	0.899;0.794;0.999	T	0.79964	-0.1581	10	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1640;1739;593	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	C	1739;1720;1640;1720	ENSP00000256707:R1739C;ENSP00000411849:R1720C;ENSP00000414923:R1640C;ENSP00000418974:R1720C	ENSP00000256707:R1739C	R	-	1	0	KIDINS220	8788402	1.000000	0.71417	0.607000	0.28956	0.609000	0.37215	6.106000	0.71511	2.805000	0.96524	0.655000	0.94253	CGT	KIDINS220	-	NULL	ENSG00000134313		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	479	0.00	0	G	NM_020738		8870951	8870951	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	missense	293	35.03	158	SNP	1.000	A
KIF17	57576	genome.wustl.edu	37	1	20992772	20992772	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:20992772G>A	ENST00000247986.2	-	14	3156	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	KIF17_ENST00000400463.3_Missense_Mutation_p.A948V|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.A849V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	949					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTAGTTGCTGGCAATGTTTTC	0.597																																						dbGAP											0													207.0	172.0	184.0					1																	20992772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2846C>T	1.37:g.20992772G>A	ENSP00000247986:p.Ala949Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A949V	ENST00000247986.2	37	c.2846	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689357	0.88735	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986;ENST00000321188	T;T;T	0.77489	-1.1;-0.99;-0.93	5.95	5.95	0.96441	.	.	.	.	.	D	0.87446	0.6179	M	0.67397	2.05	0.43603	D	0.995965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.87595	0.2493	9	0.72032	D	0.01	.	17.8727	0.88815	0.0:0.0:1.0:0.0	.	949;948;949	B0I1R5;Q9P2E2-3;Q9P2E2	.;.;KIF17_HUMAN	V	849;948;949;330	ENSP00000364184:A849V;ENSP00000383311:A948V;ENSP00000247986:A949V	ENSP00000247986:A949V	A	-	2	0	KIF17	20865359	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	7.926000	0.87569	2.826000	0.97356	0.563000	0.77884	GCC	KIF17	-	NULL	ENSG00000117245		0.597	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	231	0.00	0	G	NM_020816		20992772	20992772	-1	no_errors	ENST00000247986	ensembl	human	known	69_37n	missense	165	29.96	71	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91498334	91498335	+	In_Frame_Ins	INS	-	-	AAG	rs149688226	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:91498334_91498335insAAG	ENST00000371728.3	+	20	3801_3802	c.3736_3737insAAG	c.(3736-3738)aaa>aAAGaa	p.1251_1252insE	KIF20B_ENST00000394289.2_In_Frame_Ins_p.1251_1252insE|KIF20B_ENST00000260753.4_In_Frame_Ins_p.1211_1212insE|KIF20B_ENST00000416354.1_In_Frame_Ins_p.1281_1282insE|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTTCAATTAAAAGAAGAAGAA	0.282																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3749_3751dupAAG	10.37:g.91498341_91498343dupAAG	ENSP00000360793:p.Glu1251_Glu1251dup	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.1280in_frame_insE	ENST00000371728.3	37	c.3826_3827		10																																																																																			KIF20B	-	NULL	ENSG00000138182		0.282	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	50	0.00	0	-	NM_016195		91498334	91498335	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	in_frame_ins	54	25.00	18	INS	0.846:0.846	AAG
KIF23	9493	genome.wustl.edu	37	15	69715526	69715526	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:69715526A>G	ENST00000260363.4	+	7	709	c.592A>G	c.(592-594)Atg>Gtg	p.M198V	KIF23_ENST00000352331.4_Missense_Mutation_p.M198V|KIF23_ENST00000395392.2_Missense_Mutation_p.M198V|KIF23_ENST00000558585.1_Start_Codon_SNP_p.M1V|KIF23_ENST00000559279.1_Missense_Mutation_p.M198V|KIF23_ENST00000537891.1_Start_Codon_SNP_p.M1V	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	198	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GTTTGCAGATATGATAACTGT	0.318																																						dbGAP											0													77.0	87.0	84.0					15																	69715526		2199	4298	6497	-	-	-	SO:0001583	missense	0			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.592A>G	15.37:g.69715526A>G	ENSP00000260363:p.Met198Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M198V	ENST00000260363.4	37	c.592	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013102	0.54468	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.76060	-0.76;-0.73;-0.76;-0.99	5.53	5.53	0.82687	Kinesin, motor domain (3);	0.035089	0.85682	D	0.000000	T	0.61198	0.2328	N	0.25485	0.75	0.80722	D	1	B;B;B	0.29612	0.251;0.112;0.008	B;B;B	0.27076	0.076;0.032;0.032	T	0.58381	-0.7646	10	0.17369	T	0.5	.	14.7811	0.69769	1.0:0.0:0.0:0.0	.	1;198;198	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	V	198;198;198;1	ENSP00000260363:M198V;ENSP00000304978:M198V;ENSP00000378790:M198V;ENSP00000442969:M1V	ENSP00000260363:M198V	M	+	1	0	KIF23	67502580	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.161000	0.94739	2.219000	0.72066	0.533000	0.62120	ATG	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000137807		0.318	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		143	0.00	0	A			69715526	69715526	+1	no_errors	ENST00000260363	ensembl	human	known	69_37n	missense	91	33.09	45	SNP	1.000	G
KIF24	347240	genome.wustl.edu	37	9	34257623	34257623	+	Frame_Shift_Del	DEL	T	T	-	rs570788521	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:34257623delT	ENST00000402558.2	-	10	2006	c.1982delA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000379166.2_Frame_Shift_Del_p.K661fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K143fs*34(1)|p.K661fs*34(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTTCTGGCTTTTTTTTGGC	0.527													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	3	0.000599042	0.0	0.0043	5008	,	,		23710	0.0		0.0	False		,,,				2504	0.0					dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)											65.0	65.0	65.0					9																	34257623		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1982delA	9.37:g.34257623delT	ENSP00000384433:p.Lys661fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K661fs	ENST00000402558.2	37	c.1982	CCDS6551.2	9																																																																																			KIF24	-	NULL	ENSG00000186638		0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	116	0.00	0	T			34257623	34257623	-1	no_errors	ENST00000379166	ensembl	human	known	69_37n	frame_shift_del	103	31.61	49	DEL	0.000	-
KIF25	3834	genome.wustl.edu	37	6	168396595	168396595	+	IGR	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:168396595T>C	ENST00000515361.1	+	0	0				KIF25-AS1_ENST00000456585.1_lincRNA			Q9UIL4	KIF25_HUMAN	kinesin family member 25						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		tttggctaagtgacatgtgga	0.637																																						dbGAP											0													74.0	67.0	69.0					6																	168396595		692	1590	2282	-	-	-	SO:0001628	intergenic_variant	0			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035		6.37:g.168396595T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94775|Q5SZU9	RNA	SNP	-	NULL	ENST00000515361.1	37	NULL		6																																																																																			KIF25-AS1	-	-	ENSG00000229921		0.637	KIF25-006	KNOWN	basic	processed_transcript	KIF25-AS1	HGNC	protein_coding	OTTHUMT00000362511.1	71	0.00	0	T			168396595	168396595	-1	no_errors	ENST00000414364	ensembl	human	known	69_37n	rna	17	79.52	66	SNP	0.002	C
KIF26B	55083	genome.wustl.edu	37	1	245530587	245530587	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:245530587C>T	ENST00000407071.2	+	3	1357	c.917C>T	c.(916-918)tCg>tTg	p.S306L	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	306					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATCCTCAATTCGGTGGCCATC	0.592																																						dbGAP											0													23.0	31.0	29.0					1																	245530587		2071	4199	6270	-	-	-	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.917C>T	1.37:g.245530587C>T	ENSP00000385545:p.Ser306Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S306L	ENST00000407071.2	37	c.917	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163023	0.78226	.	.	ENSG00000162849	ENST00000407071	T	0.80566	-1.39	5.75	5.75	0.90469	.	2.595140	0.01269	N	0.009410	D	0.82384	0.5025	M	0.64997	1.995	0.80722	D	1	D;P	0.56287	0.975;0.663	B;B	0.35607	0.206;0.085	T	0.76252	-0.3027	10	0.87932	D	0	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	306;306	B4DF75;Q2KJY2	.;KI26B_HUMAN	L	306	ENSP00000385545:S306L	ENSP00000385545:S306L	S	+	2	0	KIF26B	243597210	0.996000	0.38824	0.905000	0.35620	0.887000	0.51463	5.225000	0.65294	2.716000	0.92895	0.655000	0.94253	TCG	KIF26B	-	NULL	ENSG00000162849		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	69	0.00	0	C	XM_371354		245530587	245530587	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	119	21.71	33	SNP	0.999	T
KIF2A	3796	genome.wustl.edu	37	5	61653537	61653537	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:61653537G>A	ENST00000401507.3	+	8	985	c.674G>A	c.(673-675)tGt>tAt	p.C225Y	KIF2A_ENST00000381103.2_Missense_Mutation_p.C205Y|KIF2A_ENST00000407818.3_Missense_Mutation_p.C225Y|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.C179Y	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	225	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C198Y(1)|p.C225Y(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		CATAGGATATGTGTGTGTGTA	0.254																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											69.0	72.0	71.0					5																	61653537		2200	4296	6496	-	-	-	SO:0001583	missense	0			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.674G>A	5.37:g.61653537G>A	ENSP00000385622:p.Cys225Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C225Y	ENST00000401507.3	37	c.674	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382270	0.82792	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.11	5.11	0.69529	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.33245	0.995	0.80722	D	1	D;D;D;D	0.69078	0.994;0.997;0.994;0.994	D;D;P;D	0.76071	0.971;0.987;0.885;0.971	T	0.09907	-1.0653	10	0.87932	D	0	.	18.5301	0.90989	0.0:0.0:1.0:0.0	.	225;225;225;205	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	Y	225;205;206;225;179	ENSP00000385622:C225Y;ENSP00000370493:C205Y;ENSP00000423542:C206Y;ENSP00000385000:C225Y;ENSP00000423772:C179Y	ENSP00000370493:C205Y	C	+	2	0	KIF2A	61689294	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.484000	0.97940	2.356000	0.79943	0.585000	0.79938	TGT	KIF2A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000068796		0.254	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	218	0.46	1	G	NM_004520		61653537	61653537	+1	no_errors	ENST00000407818	ensembl	human	known	69_37n	missense	133	37.56	80	SNP	1.000	A
KIRREL2	84063	genome.wustl.edu	37	19	36353864	36353864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:36353864C>T	ENST00000360202.5	+	13	1849	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	KIRREL2_ENST00000592409.1_Nonsense_Mutation_p.R516*|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Nonsense_Mutation_p.R551*|KIRREL2_ENST00000347900.6_Nonsense_Mutation_p.R501*	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	551					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAACCTGATGCGAATCCCTGG	0.597																																						dbGAP											0													39.0	36.0	37.0					19																	36353864		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1651C>T	19.37:g.36353864C>T	ENSP00000353331:p.Arg551*	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R551*	ENST00000360202.5	37	c.1651	CCDS12481.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.569993	0.97671	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	.	.	.	5.1	5.1	0.69264	.	0.259729	0.20509	N	0.090931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9006	14.0108	0.64495	0.0:1.0:0.0:0.0	.	.	.	.	X	551;501;551;531;62	.	ENSP00000262625:R551X	R	+	1	2	KIRREL2	41045704	0.051000	0.20477	0.938000	0.37757	0.186000	0.23388	0.514000	0.22786	2.387000	0.81309	0.561000	0.74099	CGA	KIRREL2	-	NULL	ENSG00000126259		0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL2	HGNC	protein_coding	OTTHUMT00000452561.1	104	0.00	0	C	NM_032123		36353864	36353864	+1	no_errors	ENST00000360202	ensembl	human	known	69_37n	nonsense	69	37.27	41	SNP	0.970	T
KLHL17	339451	genome.wustl.edu	37	1	897821	897821	+	Silent	SNP	C	C	T	rs577749915		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:897821C>T	ENST00000338591.3	+	5	905	c.798C>T	c.(796-798)gaC>gaT	p.D266D		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	266	BACK.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAAACACGACGTGGACGCCC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15795	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													48.0	48.0	48.0					1																	897821		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.798C>T	1.37:g.897821C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SV94	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D266	ENST00000338591.3	37	c.798	CCDS30550.1	1																																																																																			KLHL17	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000187961		0.672	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	50	0.00	0	C	NM_198317		897821	897821	+1	no_errors	ENST00000338591	ensembl	human	known	69_37n	silent	25	32.43	12	SNP	0.567	T
KLHL26	55295	genome.wustl.edu	37	19	18779977	18779977	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:18779977G>A	ENST00000300976.4	+	3	1860	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	590										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTGGGAGCGGGACCTGCACT	0.657																																						dbGAP											0													27.0	31.0	30.0					19																	18779977		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1770G>A	19.37:g.18779977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAP0|Q9NUX3	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R590	ENST00000300976.4	37	c.1770	CCDS12384.1	19																																																																																			KLHL26	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000167487		0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1	13	0.00	0	G	NM_018316		18779977	18779977	+1	no_errors	ENST00000300976	ensembl	human	known	69_37n	silent	1	83.33	5	SNP	0.997	A
KLHL31	401265	genome.wustl.edu	37	6	53519520	53519520	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:53519520A>G	ENST00000407079.1	-	1	550	c.551T>C	c.(550-552)cTa>cCa	p.L184P	KLHL31_ENST00000370905.3_Missense_Mutation_p.L184P			Q9H511	KLH31_HUMAN	kelch-like family member 31	184	BACK.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TGCATTTTTTAGGGAGTATGT	0.348																																						dbGAP											0													76.0	79.0	78.0					6																	53519520		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.551T>C	6.37:g.53519520A>G	ENSP00000384644:p.Leu184Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N9J2|B2RP49	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L184P	ENST00000407079.1	37	c.551	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804576	0.70682	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.72167	-0.63;-0.63	6.03	6.03	0.97812	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88990	0.3414	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	184	Q9H511	KLH31_HUMAN	P	184	ENSP00000359942:L184P;ENSP00000384644:L184P	ENSP00000359942:L184P	L	-	2	0	KLHL31	53627479	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	2.313000	0.78055	0.454000	0.30748	CTA	KLHL31	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.348	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	282	0.00	0	A	NM_001003760		53519520	53519520	-1	no_errors	ENST00000370905	ensembl	human	known	69_37n	missense	202	39.22	131	SNP	1.000	G
KPNA2	3838	genome.wustl.edu	37	17	66040120	66040120	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:66040120G>A	ENST00000537025.2	+	8	1717	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	KPNA2_ENST00000330459.3_Missense_Mutation_p.R366H			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	366	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAGCCGGCCGCCAGGACCAG	0.473																																						dbGAP											0													204.0	212.0	209.0					17																	66040120		2203	4296	6499	-	-	-	SO:0001583	missense	0			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1097G>A	17.37:g.66040120G>A	ENSP00000438483:p.Arg366His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.R366H	ENST00000537025.2	37	c.1097	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908417	0.52333	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.29397	1.57;1.57	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.059741	0.64402	U	0.000009	T	0.28433	0.0703	L	0.29908	0.895	0.58432	D	0.999997	B	0.02656	0.0	B	0.09377	0.004	T	0.04976	-1.0914	10	0.87932	D	0	.	19.4797	0.95005	0.0:0.0:1.0:0.0	.	366	P52292	IMA2_HUMAN	H	366	ENSP00000332455:R366H;ENSP00000438483:R366H	ENSP00000332455:R366H	R	+	2	0	KPNA2	63470582	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	5.258000	0.65479	2.591000	0.87537	0.552000	0.68991	CGC	KPNA2	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000182481		0.473	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	314	0.00	0	G	NM_002266		66040120	66040120	+1	no_errors	ENST00000330459	ensembl	human	known	69_37n	missense	505	22.55	147	SNP	0.998	A
KRI1	65095	genome.wustl.edu	37	19	10668270	10668270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:10668270G>T	ENST00000312962.6	-	16	1612	c.1593C>A	c.(1591-1593)taC>taA	p.Y531*	KRI1_ENST00000361821.5_Nonsense_Mutation_p.Y527*	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	525						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCACTGTGCGGTACTTGAAGC	0.612																																						dbGAP											0													172.0	135.0	147.0					19																	10668270		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1593C>A	19.37:g.10668270G>T	ENSP00000320917:p.Tyr531*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Nonsense_Mutation	SNP	pfam_KRR1-interact_protein_1	p.Y531*	ENST00000312962.6	37	c.1593	CCDS12242.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.738104|5.738104	0.96865|0.96865	.|.	.|.	ENSG00000129347|ENSG00000129347	ENST00000541101|ENST00000312962;ENST00000361821;ENST00000539027	.|.	.|.	.|.	5.22|5.22	3.96|3.96	0.45880|0.45880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.24314|.	0.0589|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26608|.	-1.0098|.	4|.	0.87932|0.02654	D|T	0|1	-31.1202|-31.1202	10.5534|10.5534	0.45103|0.45103	0.1523:0.0:0.8477:0.0|0.1523:0.0:0.8477:0.0	.|.	.|.	.|.	.|.	N|X	560|531;527;180	.|.	ENSP00000445847:T560N|ENSP00000320917:Y531X	T|Y	-|-	2|3	0|2	KRI1|KRI1	10529270|10529270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.282000|3.282000	0.51693|0.51693	2.436000|2.436000	0.82500|0.82500	0.563000|0.563000	0.77884|0.77884	ACC|TAC	KRI1	-	pfam_KRR1-interact_protein_1	ENSG00000129347		0.612	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000317705.1	166	0.00	0	G	NM_023008		10668270	10668270	-1	no_errors	ENST00000312962	ensembl	human	known	69_37n	nonsense	158	13.59	25	SNP	1.000	T
KRT1	3848	genome.wustl.edu	37	12	53073854	53073854	+	Silent	SNP	A	A	G	rs2741151		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:53073854A>G	ENST00000252244.3	-	1	337	c.279T>C	c.(277-279)ggT>ggC	p.G93G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	93	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						caccaccataaccaccaccaa	0.547																																						dbGAP											0													318.0	283.0	295.0					12																	53073854		2149	4223	6372	-	-	-	SO:0001819	synonymous_variant	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.279T>C	12.37:g.53073854A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G93	ENST00000252244.3	37	c.279	CCDS8836.1	12																																																																																			KRT1	-	NULL	ENSG00000167768		0.547	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	997	0.10	1	A	NM_006121		53073854	53073854	-1	no_errors	ENST00000252244	ensembl	human	known	69_37n	silent	498	38.23	315	SNP	0.070	G
KRT25	147183	genome.wustl.edu	37	17	38911447	38911447	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:38911447C>T	ENST00000312150.4	-	1	137	c.77G>A	c.(76-78)gGg>gAg	p.G26E		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCTGGTTCCCCCACCATAGAG	0.542																																						dbGAP											0													49.0	48.0	48.0					17																	38911447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.77G>A	17.37:g.38911447C>T	ENSP00000310573:p.Gly26Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.G26E	ENST00000312150.4	37	c.77	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737369	0.30774	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.84516	-1.86	5.39	0.641	0.17759	.	0.836272	0.10675	N	0.647108	T	0.73729	0.3624	N	0.14661	0.345	0.09310	N	1	B	0.22909	0.077	B	0.24155	0.051	T	0.59815	-0.7383	10	0.38643	T	0.18	.	12.6505	0.56757	0.1241:0.3938:0.4821:0.0	.	26	Q7Z3Z0	K1C25_HUMAN	E	26	ENSP00000310573:G26E	ENSP00000310573:G26E	G	-	2	0	KRT25	36164973	0.000000	0.05858	0.024000	0.17045	0.787000	0.44495	-0.213000	0.09305	0.202000	0.20498	0.655000	0.94253	GGG	KRT25	-	NULL	ENSG00000204897		0.542	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	46	0.00	0	C	NM_181534		38911447	38911447	-1	no_errors	ENST00000312150	ensembl	human	known	69_37n	missense	15	50.00	16	SNP	0.003	T
KRT37	8688	genome.wustl.edu	37	17	39580442	39580442	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:39580442T>C	ENST00000225550.3	-	1	333	c.334A>G	c.(334-336)Aat>Gat	p.N112D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	112	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGCGGTCATTCAGGAACTTC	0.577																																						dbGAP											0													111.0	94.0	100.0					17																	39580442		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.334A>G	17.37:g.39580442T>C	ENSP00000225550:p.Asn112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.N112D	ENST00000225550.3	37	c.334	CCDS32653.1	17	.	.	.	.	.	.	.	.	.	.	.	25.6	4.654433	0.88056	.	.	ENSG00000108417	ENST00000225550	D	0.96554	-4.05	4.69	4.69	0.59074	Filament (1);	0.000000	0.52532	D	0.000062	D	0.99039	0.9671	H	0.99770	4.765	0.39772	D	0.972187	D	0.89917	1.0	D	0.87578	0.998	D	0.99157	1.0860	10	0.87932	D	0	.	13.3165	0.60409	0.0:0.0:0.0:1.0	.	112	O76014	KRT37_HUMAN	D	112	ENSP00000225550:N112D	ENSP00000225550:N112D	N	-	1	0	KRT37	36833968	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	5.128000	0.64733	1.760000	0.52011	0.533000	0.62120	AAT	KRT37	-	pfam_F	ENSG00000108417		0.577	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	HGNC	protein_coding	OTTHUMT00000257714.2	257	0.00	0	T	NM_003770		39580442	39580442	-1	no_errors	ENST00000225550	ensembl	human	known	69_37n	missense	59	61.44	94	SNP	1.000	C
KRT75	9119	genome.wustl.edu	37	12	52822086	52822086	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:52822086C>T	ENST00000252245.5	-	7	1556	c.1336G>A	c.(1336-1338)Gtg>Atg	p.V446M	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	446	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCGATCTCCACGTCCAGGGCC	0.592																																						dbGAP											0													88.0	74.0	78.0					12																	52822086		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1336G>A	12.37:g.52822086C>T	ENSP00000252245:p.Val446Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQU4|Q9NSA9	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V446M	ENST00000252245.5	37	c.1336	CCDS8827.1	12	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565827	0.65651	.	.	ENSG00000170454	ENST00000252245	T	0.78003	-1.14	5.63	3.56	0.40772	Filament (1);	0.146956	0.32314	N	0.006275	T	0.67562	0.2906	L	0.35414	1.06	0.39395	D	0.96648	P	0.46064	0.872	P	0.47118	0.538	T	0.65067	-0.6258	10	0.32370	T	0.25	.	4.403	0.11395	0.0:0.5502:0.0:0.4498	.	446	O95678	K2C75_HUMAN	M	446	ENSP00000252245:V446M	ENSP00000252245:V446M	V	-	1	0	KRT75	51108353	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	2.846000	0.48262	1.373000	0.46208	0.561000	0.74099	GTG	KRT75	-	pfam_F	ENSG00000170454		0.592	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	HGNC	protein_coding	OTTHUMT00000404968.1	123	0.00	0	C	NM_004693		52822086	52822086	-1	no_errors	ENST00000252245	ensembl	human	known	69_37n	missense	79	43.17	60	SNP	1.000	T
KRTAP10-5	386680	genome.wustl.edu	37	21	46000150	46000150	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:46000150G>T	ENST00000400372.1	-	1	331	c.306C>A	c.(304-306)acC>acA	p.T102T	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	102	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CCTTAGAgcaggtgggcaggc	0.652																																						dbGAP											0													80.0	81.0	80.0					21																	46000150		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.306C>A	21.37:g.46000150G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	NULL	p.T102	ENST00000400372.1	37	c.306	CCDS42958.1	21																																																																																			KRTAP10-5	-	NULL	ENSG00000241123		0.652	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	350	0.00	0	G			46000150	46000150	-1	no_errors	ENST00000400372	ensembl	human	known	69_37n	silent	188	37.75	114	SNP	0.174	T
KRTAP10-9	386676	genome.wustl.edu	37	21	46047347	46047347	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:46047347C>T	ENST00000397911.3	+	1	308	c.259C>T	c.(259-261)Ccg>Tcg	p.P87S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	87	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TAGCTGCCAGCCGGCTTACTG	0.677																																						dbGAP											0													62.0	79.0	73.0					21																	46047347		2197	4293	6490	-	-	-	SO:0001583	missense	0			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.259C>T	21.37:g.46047347C>T	ENSP00000381009:p.Pro87Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	NULL	p.P87S	ENST00000397911.3	37	c.259	CCDS42961.1	21	.	.	.	.	.	.	.	.	.	.	c	11.07	1.531265	0.27387	.	.	ENSG00000221837	ENST00000397911	T	0.00832	5.64	3.34	-2.54	0.06307	.	.	.	.	.	T	0.01124	0.0037	L	0.57130	1.785	0.19300	N	0.999972	B	0.11235	0.004	B	0.10450	0.005	T	0.41627	-0.9498	8	.	.	.	.	5.7655	0.18224	0.0:0.4155:0.3591:0.2255	.	87	P60411	KR109_HUMAN	S	87	ENSP00000381009:P87S	.	P	+	1	0	KRTAP10-9	44871775	0.014000	0.17966	0.354000	0.25760	0.784000	0.44337	-0.071000	0.11505	-0.219000	0.10003	0.650000	0.86243	CCG	KRTAP10-9	-	NULL	ENSG00000221837		0.677	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-9	HGNC	protein_coding	OTTHUMT00000128040.1	235	0.00	0	C			46047347	46047347	+1	no_errors	ENST00000397911	ensembl	human	known	69_37n	missense	130	38.68	82	SNP	0.015	T
KRTAP5-9	3846	genome.wustl.edu	37	11	71259915	71259915	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:71259915G>A	ENST00000528743.2	+	1	450	c.212G>A	c.(211-213)gGc>gAc	p.G71D		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	71	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						TCCAAGGGAGGCTGTGGTTCT	0.632																																						dbGAP											0													101.0	118.0	113.0					11																	71259915		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.212G>A	11.37:g.71259915G>A	ENSP00000431443:p.Gly71Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14564|Q3MIP8	Missense_Mutation	SNP	NULL	p.G71D	ENST00000528743.2	37	c.212	CCDS53677.1	11	.	.	.	.	.	.	.	.	.	.	N	3.425	-0.117269	0.06838	.	.	ENSG00000254997	ENST00000528743	T	0.04406	3.63	1.57	1.57	0.23409	.	.	.	.	.	T	0.20941	0.0504	M	0.89287	3.02	0.25339	N	0.988966	D	0.65815	0.995	D	0.66351	0.943	T	0.02098	-1.1214	9	0.54805	T	0.06	.	9.1165	0.36762	0.0:0.0:1.0:0.0	.	71	P26371	KRA59_HUMAN	D	71	ENSP00000431443:G71D	ENSP00000431443:G71D	G	+	2	0	KRTAP5-9	70937563	0.983000	0.35010	1.000000	0.80357	0.159000	0.22180	4.275000	0.58927	1.189000	0.43028	0.442000	0.29010	GGC	KRTAP5-9	-	NULL	ENSG00000254997		0.632	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-9	HGNC	protein_coding	OTTHUMT00000393901.2	457	0.43	2	G			71259915	71259915	+1	no_errors	ENST00000528743	ensembl	human	known	69_37n	missense	273	33.01	135	SNP	0.764	A
LACC1	144811	genome.wustl.edu	37	13	44456417	44456417	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:44456417A>G	ENST00000441843.1	+	3	1144	c.659A>G	c.(658-660)gAt>gGt	p.D220G	LACC1_ENST00000325686.6_Missense_Mutation_p.D220G|CCDC122_ENST00000444614.3_5'Flank|CCDC122_ENST00000476570.2_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	220																	AAACGGAGAGATCCCAAGGTA	0.363																																						dbGAP											0													87.0	91.0	90.0					13																	44456417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.659A>G	13.37:g.44456417A>G	ENSP00000391747:p.Asp220Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3Z6|Q8N8X5	Missense_Mutation	SNP	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	p.D220G	ENST00000441843.1	37	c.659	CCDS9391.1	13	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725433	0.89298	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.61158	0.13;0.13	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87381	0.2357	10	0.87932	D	0	-24.9865	15.4216	0.75015	1.0:0.0:0.0:0.0	.	220	Q8IV20	LACC1_HUMAN	G	220	ENSP00000391747:D220G;ENSP00000317619:D220G	ENSP00000317619:D220G	D	+	2	0	LACC1	43354417	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.948000	0.87774	2.239000	0.73571	0.496000	0.49642	GAT	LACC1	-	pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat	ENSG00000179630		0.363	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LACC1	HGNC	protein_coding	OTTHUMT00000044726.3	214	0.00	0	A	NM_153218		44456417	44456417	+1	no_errors	ENST00000325686	ensembl	human	known	69_37n	missense	186	33.57	94	SNP	1.000	G
LAMP5	24141	genome.wustl.edu	37	20	9510335	9510335	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:9510335G>A	ENST00000246070.2	+	6	1203	c.711G>A	c.(709-711)ttG>ttA	p.L237L	LAMP5_ENST00000427562.2_Silent_p.L193L	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	237						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											AAGAAACCTTGCCCCTGATTT	0.502																																						dbGAP											0													120.0	96.0	104.0					20																	9510335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.711G>A	20.37:g.9510335G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHZ7|B7Z9Z9	Silent	SNP	pfam_Lysosome-assoc_membr_glycop	p.L237	ENST00000246070.2	37	c.711	CCDS13106.1	20																																																																																			LAMP5	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000125869		0.502	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP5	HGNC	protein_coding	OTTHUMT00000077946.2	203	0.00	0	G	NM_012261		9510335	9510335	+1	no_errors	ENST00000246070	ensembl	human	known	69_37n	silent	135	39.73	89	SNP	1.000	A
LARGE	9215	genome.wustl.edu	37	22	33670448	33670448	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:33670448C>T	ENST00000354992.2	-	16	2807	c.2236G>A	c.(2236-2238)Gcc>Acc	p.A746T	LARGE_ENST00000337431.2_Missense_Mutation_p.A694T|LARGE_ENST00000397394.2_Missense_Mutation_p.A746T|LARGE_ENST00000402320.1_Missense_Mutation_p.A694T|LARGE_ENST00000452586.2_Missense_Mutation_p.A545T|LARGE_ENST00000437602.2_Missense_Mutation_p.A697T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	746					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TATTTCAGGGCAGCAAAGCCG	0.542											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(70;397 1175 4573 19089 45288)	dbGAP											0													133.0	121.0	125.0					22																	33670448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.2236G>A	22.37:g.33670448C>T	ENSP00000347088:p.Ala746Thr	Somatic	841	WXS	Illumina GAIIx	Phase_IV	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.A746T	ENST00000354992.2	37	c.2236	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.641119	0.96693	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.55234	0.87;1.02;0.87;1.02;0.53;0.57	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.66317	0.2777	M	0.63428	1.95	0.80722	D	1	P;P;D;D	0.56035	0.908;0.498;0.97;0.974	P;B;P;P	0.53224	0.53;0.2;0.721;0.677	T	0.65606	-0.6127	10	0.62326	D	0.03	-15.4283	20.8598	0.99761	0.0:1.0:0.0:0.0	.	697;545;694;746	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	T	746;694;746;694;545;697	ENSP00000347088:A746T;ENSP00000336636:A694T;ENSP00000380549:A746T;ENSP00000385223:A694T;ENSP00000407917:A545T;ENSP00000388544:A697T	ENSP00000336636:A694T	A	-	1	0	LARGE	32000448	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.348000	0.79366	2.937000	0.99478	0.650000	0.86243	GCC	LARGE	-	NULL	ENSG00000133424		0.542	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	240	0.00	0	C	NM_133642		33670448	33670448	-1	no_errors	ENST00000354992	ensembl	human	known	69_37n	missense	174	38.06	110	SNP	1.000	T
LARP7	51574	genome.wustl.edu	37	4	113578483	113578483	+	Stop_Codon_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:113578483delA	ENST00000344442.5	+	0	2027				LARP7_ENST00000503898.1_3'UTR|LARP7_ENST00000324052.6_Stop_Codon_Del|LARP7_ENST00000509061.1_Stop_Codon_Del	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7						RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AATATGATTGAAAAAAAAAAC	0.303																																						dbGAP											0									,	139,105,4006		1,0,137,0,105,1882	30.0	33.0	32.0		,	4.3	0.8	4		33	199,147,7892		2,0,195,1,145,3776	no	codingComplex,codingComplex	LARP7	NM_016648.2,NM_015454.1	,	3,0,332,1,250,5658	A1A1,A1A2,A1R,A2A2,A2R,RR		4.2,5.7412,4.7245	,	,	113578483	338,252,11898	2198	4293	6491	-	-	-	SO:0001567	stop_retained_variant	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	Exception_encountered	4.37:g.113578483delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Del	DEL	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.*583fs	ENST00000344442.5	37	c.1749	CCDS3701.2	4																																																																																			LARP7	-	NULL	ENSG00000174720		0.303	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	109	0.90	1	A	NM_016648		113578483	113578483	+1	no_errors	ENST00000324052	ensembl	human	known	69_37n	frame_shift_del	91	31.34	42	DEL	1.000	-
LDHA	3939	genome.wustl.edu	37	11	18425290	18425290	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:18425290G>A	ENST00000422447.3	+	6	915	c.642G>A	c.(640-642)ctG>ctA	p.L214L	LDHA_ENST00000540430.1_Silent_p.L243L|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000542179.1_Silent_p.L214L|LDHA_ENST00000227157.4_Silent_p.L214L|LDHA_ENST00000396222.2_Silent_p.L214L|LDHA_ENST00000430553.2_Silent_p.L156L|LDHA_ENST00000379412.5_Silent_p.L214L	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	214					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TGAAGACTCTGCACCCAGATT	0.388																																						dbGAP											0													139.0	134.0	135.0					11																	18425290		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.642G>A	11.37:g.18425290G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,prints_L-lactate/malate_DH	p.A84T	ENST00000422447.3	37	c.250	CCDS7839.1	11																																																																																			LDHA	-	NULL	ENSG00000134333		0.388	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHA	HGNC	protein_coding	OTTHUMT00000258172.2	562	0.53	3	G	NM_005566		18425290	18425290	+1	no_errors	ENST00000541097	ensembl	human	known	69_37n	missense	364	37.13	215	SNP	0.548	A
LECT1	11061	genome.wustl.edu	37	13	53298181	53298181	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:53298181C>T	ENST00000377962.3	-	4	497	c.419G>A	c.(418-420)cGt>cAt	p.R140H	LECT1_ENST00000448904.2_Missense_Mutation_p.R140H			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	140	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCAGGAATACGAGCCTTCAC	0.473																																						dbGAP											0													164.0	122.0	136.0					13																	53298181		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.419G>A	13.37:g.53298181C>T	ENSP00000367198:p.Arg140His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.R140H	ENST00000377962.3	37	c.419	CCDS9437.1	13	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977378	0.34848	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.79454	-1.27;-1.27;-1.27	6.05	4.03	0.46877	BRICHOS (2);	0.304180	0.42420	N	0.000701	T	0.64789	0.2630	L	0.28192	0.835	0.39201	D	0.963149	B;B	0.13594	0.007;0.008	B;B	0.12156	0.004;0.007	T	0.62746	-0.6789	10	0.37606	T	0.19	.	11.2164	0.48830	0.0:0.738:0.0:0.262	.	140;140	O75829-2;O75829	.;LECT1_HUMAN	H	140;140;62	ENSP00000388576:R140H;ENSP00000367198:R140H;ENSP00000396035:R62H	ENSP00000367198:R140H	R	-	2	0	LECT1	52196182	0.096000	0.21769	0.717000	0.30585	0.933000	0.57130	0.432000	0.21461	1.580000	0.49851	0.655000	0.94253	CGT	LECT1	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	ENSG00000136110		0.473	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	284	0.00	0	C			53298181	53298181	-1	no_errors	ENST00000377962	ensembl	human	known	69_37n	missense	191	35.47	105	SNP	0.393	T
LENEP	55891	genome.wustl.edu	37	1	154966118	154966118	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154966118T>C	ENST00000392487.1	+	1	55	c.35T>C	c.(34-36)cTa>cCa	p.L12P				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	12					multicellular organismal development (GO:0007275)		DNA binding (GO:0003677)			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCCAAACCCTACCCTTCTTC	0.617																																						dbGAP											0													60.0	60.0	60.0					1																	154966118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268478	CCDS1080.1	1q22.2	2008-02-05			ENSG00000163352	ENSG00000163352			14429	protein-coding gene	gene with protein product		607377				10655141, 11376938	Standard	NM_018655		Approved	LEP503	uc001fgi.3	Q9Y5L5	OTTHUMG00000037417	ENST00000392487.1:c.35T>C	1.37:g.154966118T>C	ENSP00000376278:p.Leu12Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM1|Q5T1A4	Missense_Mutation	SNP	NULL	p.L12P	ENST00000392487.1	37	c.35	CCDS1080.1	1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407450	0.25378	.	.	ENSG00000163352	ENST00000392487	.	.	.	5.32	2.94	0.34122	.	0.000000	0.31246	N	0.007989	T	0.29389	0.0732	.	.	.	0.44762	D	0.997763	B	0.20887	0.049	B	0.25140	0.058	T	0.21008	-1.0258	8	0.87932	D	0	-1.0345	5.675	0.17743	0.1505:0.0831:0.0:0.7664	.	12	Q9Y5L5	LENEP_HUMAN	P	12	.	ENSP00000357412:L12P	L	+	2	0	LENEP	153232742	0.068000	0.21057	0.130000	0.21974	0.335000	0.28730	0.963000	0.29293	0.444000	0.26612	0.460000	0.39030	CTA	LENEP	-	NULL	ENSG00000163352		0.617	LENEP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LENEP	HGNC	protein_coding	OTTHUMT00000385609.2	115	0.86	1	T	NM_018655		154966118	154966118	+1	no_errors	ENST00000368427	ensembl	human	known	69_37n	missense	193	17.17	40	SNP	0.592	C
LEMD1	93273	genome.wustl.edu	37	1	205389680	205389680	+	5'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:205389680G>A	ENST00000367153.4	-	0	87				LEMD1_ENST00000367151.2_5'UTR|LEMD1_ENST00000367149.3_5'UTR|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367154.1_5'UTR|LEMD1_ENST00000391936.2_5'UTR|LEMD1_ENST00000367152.1_5'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1							integral component of membrane (GO:0016021)				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			TAGAAGTTTGGCCTCTTTTCT	0.368																																						dbGAP											0													117.0	106.0	110.0					1																	205389680		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS30986.1, CCDS55677.1, CCDS55678.1, CCDS55679.1	1q32.1	2009-03-25			ENSG00000186007	ENSG00000186007			18725	protein-coding gene	gene with protein product	"""cancer/testis antigen 50"""	610480				15254688	Standard	NM_001199050		Approved	LEMP-1, CT50	uc001hcj.2	Q68G75	OTTHUMG00000037201	ENST00000367153.4:c.-16C>T	1.37:g.205389680G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6L9T9|Q6L9U0|Q6L9U1|Q6L9U2|Q6L9U3|Q6L9U4	RNA	SNP	-	NULL	ENST00000367153.4	37	NULL	CCDS55679.1	1																																																																																			LEMD1	-	-	ENSG00000186007		0.368	LEMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD1	HGNC	protein_coding	OTTHUMT00000090401.1	270	0.00	0	G	NM_001001552		205389680	205389680	-1	no_errors	ENST00000476884	ensembl	human	known	69_37n	rna	484	16.09	93	SNP	0.014	A
LGALS12	85329	genome.wustl.edu	37	11	63283151	63283151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:63283151delC	ENST00000394618.3	+	8	1121	c.830delC	c.(829-831)gccfs	p.A277fs	LGALS12_ENST00000340246.5_Frame_Shift_Del_p.A278fs|LGALS12_ENST00000415491.2_Frame_Shift_Del_p.A216fs|LGALS12_ENST00000425950.2_Frame_Shift_Del_p.A207fs|LGALS12_ENST00000255684.5_Frame_Shift_Del_p.A268fs	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	277	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGATCTCAGCCCCCTTCCTC	0.557																																						dbGAP											0													56.0	56.0	56.0					11																	63283151		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.830delC	11.37:g.63283151delC	ENSP00000378116:p.Ala277fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Frame_Shift_Del	DEL	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.F280fs	ENST00000394618.3	37	c.833	CCDS8045.1	11																																																																																			LGALS12	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000133317		0.557	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	115	0.85	1	C	NM_033101		63283151	63283151	+1	no_errors	ENST00000340246	ensembl	human	known	69_37n	frame_shift_del	67	37.61	41	DEL	0.994	-
LGALS3BP	3959	genome.wustl.edu	37	17	76972105	76972105	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76972105G>A	ENST00000262776.3	-	3	494	c.186C>T	c.(184-186)tgC>tgT	p.C62C	LGALS3BP_ENST00000585407.1_Silent_p.C62C|LGALS3BP_ENST00000591778.1_Silent_p.C62C	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	62	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCAGGGCCCGGCAGACGACGC	0.662																																					GBM(89;1105 1755 18102 21513)	dbGAP											0													35.0	30.0	31.0					17																	76972105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.186C>T	17.37:g.76972105G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	pfam_Srcr_rcpt,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,prints_Srcr_rcpt,pfscan_BTB/POZ-like,pfscan_Srcr_rcpt	p.C62	ENST00000262776.3	37	c.186	CCDS11759.1	17																																																																																			LGALS3BP	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	ENSG00000108679		0.662	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3	28	0.00	0	G	NM_005567		76972105	76972105	-1	no_errors	ENST00000262776	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	1.000	A
LGSN	51557	genome.wustl.edu	37	6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A	rs371133744		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	482					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAAAATATCGAATAAAGGTT	0.378																																						dbGAP											0													74.0	78.0	76.0					6																	63990012		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1444C>T	6.37:g.63990012G>A	ENSP00000359691:p.Arg482*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.R482*	ENST00000370657.4	37	c.1444	CCDS4964.1	6	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373680	0.61624	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.7	3.86	0.44501	.	0.362303	0.32884	N	0.005523	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.5437	14.1084	0.65107	0.0:0.0:0.6109:0.3891	.	.	.	.	X	482	.	ENSP00000359691:R482X	R	-	1	2	LGSN	64047971	1.000000	0.71417	0.856000	0.33681	0.358000	0.29455	4.385000	0.59613	0.703000	0.31848	0.655000	0.94253	CGA	LGSN	-	NULL	ENSG00000146166		0.378	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	137	0.72	1	G	NM_016571		63990012	63990012	-1	no_errors	ENST00000370657	ensembl	human	known	69_37n	nonsense	102	35.85	57	SNP	0.971	A
LIG1	3978	genome.wustl.edu	37	19	48668813	48668813	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:48668813C>T	ENST00000263274.7	-	2	430	c.11G>A	c.(10-12)aGt>aAt	p.S4N	LIG1_ENST00000427526.2_Missense_Mutation_p.S4N|LIG1_ENST00000536218.1_Missense_Mutation_p.S4N|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	4					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCACATGATACTTCGCTGCAT	0.443								Nucleotide excision repair (NER)																														dbGAP											0													214.0	170.0	185.0					19																	48668813		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.11G>A	19.37:g.48668813C>T	ENSP00000263274:p.Ser4Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.S4N	ENST00000263274.7	37	c.11	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508991	0.64410	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.61742	0.19;0.37;0.08;2.38	4.28	1.84	0.25277	.	0.351548	0.25217	N	0.032278	T	0.51941	0.1704	L	0.59436	1.845	0.26694	N	0.971304	P;P;P	0.40731	0.608;0.728;0.608	B;B;B	0.40285	0.173;0.325;0.173	T	0.52305	-0.8593	10	0.72032	D	0.01	-3.2449	9.8517	0.41061	0.0:0.5894:0.4106:0.0	.	4;4;4	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	N	4;36;4;4;4	ENSP00000263274:S4N;ENSP00000442841:S4N;ENSP00000441531:S4N;ENSP00000445928:S4N	ENSP00000263274:S4N	S	-	2	0	LIG1	53360625	0.855000	0.29742	1.000000	0.80357	0.835000	0.47333	1.018000	0.30002	1.038000	0.40049	0.655000	0.94253	AGT	LIG1	-	NULL	ENSG00000105486		0.443	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	337	0.00	0	C	NM_000234		48668813	48668813	-1	no_errors	ENST00000263274	ensembl	human	known	69_37n	missense	213	38.62	134	SNP	1.000	T
LILRB5	10990	genome.wustl.edu	37	19	54756385	54756385	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:54756385G>A	ENST00000316219.5	-	10	1606	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	LILRB5_ENST00000345866.6_Missense_Mutation_p.A401V|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000449561.2_Missense_Mutation_p.A501V|LILRB5_ENST00000450632.1_Missense_Mutation_p.A492V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	500					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTCTGGCCCCGCAGCCCCTGC	0.617																																						dbGAP											0													91.0	88.0	89.0					19																	54756385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1499C>T	19.37:g.54756385G>A	ENSP00000320390:p.Ala500Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N760	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A492V	ENST00000316219.5	37	c.1475	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	G	0.094	-1.161755	0.01673	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00485	7.12;7.07;7.11;7.13	1.91	-0.491	0.12045	.	.	.	.	.	T	0.00241	0.0007	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.32862	0.349;0.172;0.055;0.387	B;B;B;B	0.24541	0.022;0.054;0.027;0.037	T	0.22695	-1.0209	9	0.14656	T	0.56	.	4.6532	0.12605	0.3582:0.0:0.6418:0.0	.	492;401;501;500	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	V	500;492;501;401	ENSP00000320390:A500V;ENSP00000414225:A492V;ENSP00000406478:A501V;ENSP00000263430:A401V	ENSP00000320390:A500V	A	-	2	0	LILRB5	59448197	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.285000	0.08410	-0.045000	0.13468	-0.459000	0.05422	GCG	LILRB5	-	NULL	ENSG00000105609		0.617	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	417	0.00	0	G			54756385	54756385	-1	no_errors	ENST00000450632	ensembl	human	known	69_37n	missense	229	34.55	123	SNP	0.000	A
LIMK2	3985	genome.wustl.edu	37	22	31672777	31672777	+	Intron	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:31672777delC	ENST00000331728.4	+	15	1886				LIMK2_ENST00000406516.1_Frame_Shift_Del_p.A514fs|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000340552.4_Frame_Shift_Del_p.A571fs	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACTTTCAGAGCCCCCCCCGGG	0.731																																						dbGAP											0									,,	180,51,3947		8,1,163,1,48,1868	8.0	10.0	9.0		,,	0.1	0.0	22		9	196,82,7866		6,0,184,0,82,3800	no	intron,intron,codingComplex	LIMK2	NM_016733.2,NM_005569.3,NM_001031801.1	,,	14,1,347,1,130,5668	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4136,5.529,4.1308	,,	,,	31672777	376,133,11813	2173	4261	6434	-	-	-	SO:0001627	intron_variant	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1772+1483C>-	22.37:g.31672777delC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.575fs	ENST00000331728.4	37	c.1712	CCDS13891.1	22																																																																																			LIMK2	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000182541		0.731	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	13	0.00	0	C	NM_016733		31672777	31672777	+1	no_errors	ENST00000340552	ensembl	human	putative	69_37n	frame_shift_del	15	27.27	6	DEL	0.996	-
LINC00226	338004	genome.wustl.edu	37	14	106744279	106744279	+	lincRNA	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:106744279C>T	ENST00000415154.1	+	0	0									long intergenic non-protein coding RNA 226																		GCGGCCGCTCCGACCCGGCCT	0.716																																						dbGAP											0																																										-	-	-			0			AW205017		14q32.33	2012-10-12	2011-08-11	2011-08-11	ENSG00000229084	ENSG00000276210		"""Long non-coding RNAs"""	20168	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 97"", ""non-protein coding RNA 226"""	C14orf97, NCRNA00226			Standard	NR_033375		Approved		uc021seu.1		OTTHUMG00000152078		14.37:g.106744279C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000415154.1	37	NULL		14																																																																																			LINC00226	-	-	ENSG00000229084		0.716	LINC00226-002	KNOWN	basic	lincRNA	LINC00226	HGNC	lincRNA	OTTHUMT00000325173.1	67	0.00	0	C			106744279	106744279	+1	no_errors	ENST00000458560	ensembl	human	known	69_37n	rna	53	33.75	27	SNP	0.623	T
LIPA	3988	genome.wustl.edu	37	10	90984930	90984930	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:90984930delA	ENST00000336233.5	-	6	916	c.594delT	c.(592-594)tttfs	p.F198fs	LIPA_ENST00000456827.1_Frame_Shift_Del_p.F198fs|LIPA_ENST00000371837.1_Frame_Shift_Del_p.F142fs			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	198					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GACCCAGGGCAAAAAACATTT	0.448																																						dbGAP											0													166.0	185.0	179.0					10																	90984930		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.594delT	10.37:g.90984930delA	ENSP00000337354:p.Phe198fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Frame_Shift_Del	DEL	pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase	p.F200fs	ENST00000336233.5	37	c.600	CCDS7401.1	10																																																																																			LIPA	-	pfam_AB_hydrolase_1	ENSG00000107798		0.448	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPA	HGNC	protein_coding	OTTHUMT00000049308.1	313	0.00	0	A	NM_000235		90984930	90984930	-1	no_errors	ENST00000425287	ensembl	human	known	69_37n	frame_shift_del	226	31.74	106	DEL	1.000	-
LIPJ	142910	genome.wustl.edu	37	10	90366448	90366448	+	Silent	SNP	C	C	T	rs202219344		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:90366448C>T	ENST00000371939.3	+	11	1199	c.885C>T	c.(883-885)taC>taT	p.Y295Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	295					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CTCCATTATACAACATGACAA	0.323																																						dbGAP											0													72.0	71.0	71.0					10																	90366448		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.885C>T	10.37:g.90366448C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MT98|Q0P671	Silent	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.Y295	ENST00000371939.3	37	c.885	CCDS31240.1	10																																																																																			LIPJ	-	pfam_AB_hydrolase_1	ENSG00000204022		0.323	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2	155	0.00	0	C	XM_084377		90366448	90366448	+1	no_errors	ENST00000371939	ensembl	human	known	69_37n	silent	130	35.00	70	SNP	0.806	T
LMAN1	3998	genome.wustl.edu	37	18	57006121	57006121	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:57006121A>G	ENST00000251047.5	-	9	1737	c.1020T>C	c.(1018-1020)cgT>cgC	p.R340R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	340					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CAAGATGAATACGATTCTGTC	0.378																																						dbGAP											0													148.0	140.0	143.0					18																	57006121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1020T>C	18.37:g.57006121A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl,superfamily_HMG_superfamily	p.R340	ENST00000251047.5	37	c.1020	CCDS11974.1	18																																																																																			LMAN1	-	NULL	ENSG00000074695		0.378	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	346	0.00	0	A	NM_005570		57006121	57006121	-1	no_errors	ENST00000251047	ensembl	human	known	69_37n	silent	235	40.60	162	SNP	0.962	G
LMCD1	29995	genome.wustl.edu	37	3	8609226	8609226	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:8609226A>G	ENST00000157600.3	+	6	1272	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	LMCD1_ENST00000397386.3_Missense_Mutation_p.Y235C|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.Y274C	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	347	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGCCGGGCGTACATCGTCACC	0.577																																						dbGAP											0													242.0	233.0	236.0					3																	8609226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.1040A>G	3.37:g.8609226A>G	ENSP00000157600:p.Tyr347Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG80	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Y347C	ENST00000157600.3	37	c.1040	CCDS33688.1	3	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690627	0.48097	.	.	ENSG00000071282	ENST00000157600;ENST00000454244;ENST00000397386	D;D;D	0.87412	-2.25;-2.25;-2.25	5.52	5.52	0.82312	Zinc finger, LIM-type (4);	0.099610	0.43919	D	0.000519	D	0.90611	0.7056	L	0.48986	1.54	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.977	D	0.91085	0.4902	10	0.87932	D	0	-31.1445	10.6657	0.45728	0.8567:0.0:0.0:0.1433	.	235;347	B4DEY6;Q9NZU5	.;LMCD1_HUMAN	C	347;274;235	ENSP00000157600:Y347C;ENSP00000396515:Y274C;ENSP00000380542:Y235C	ENSP00000157600:Y347C	Y	+	2	0	LMCD1	8584226	1.000000	0.71417	0.950000	0.38849	0.105000	0.19272	5.750000	0.68712	2.232000	0.73038	0.482000	0.46254	TAC	LMCD1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000071282		0.577	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMCD1	HGNC	protein_coding	OTTHUMT00000337854.1	127	0.78	1	A	NM_014583		8609226	8609226	+1	no_errors	ENST00000157600	ensembl	human	known	69_37n	missense	95	37.50	57	SNP	1.000	G
LPCAT4	254531	genome.wustl.edu	37	15	34654781	34654781	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:34654781T>C	ENST00000314891.6	-	9	1054	c.877A>G	c.(877-879)Atg>Gtg	p.M293V	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	293					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CACTGTGCCATGACCCTCTGA	0.547																																						dbGAP											0													64.0	61.0	62.0					15																	34654781		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.877A>G	15.37:g.34654781T>C	ENSP00000317300:p.Met293Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.M293V	ENST00000314891.6	37	c.877	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487077	0.84854	.	.	ENSG00000176454	ENST00000314891	D	0.91945	-2.94	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.87328	2.875	0.58432	D	0.999995	D	0.69078	0.997	D	0.73380	0.98	D	0.96923	0.9675	10	0.87932	D	0	-23.3691	14.46	0.67442	0.0:0.0:0.0:1.0	.	293	Q643R3	LPCT4_HUMAN	V	293	ENSP00000317300:M293V	ENSP00000317300:M293V	M	-	1	0	LPCAT4	32442073	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.917000	0.69989	2.053000	0.61076	0.482000	0.46254	ATG	LPCAT4	-	NULL	ENSG00000176454		0.547	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	142	0.00	0	T	NM_153613		34654781	34654781	-1	no_errors	ENST00000314891	ensembl	human	known	69_37n	missense	108	31.65	50	SNP	1.000	C
LPPR4	9890	genome.wustl.edu	37	1	99771829	99771829	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:99771829G>T	ENST00000370185.3	+	7	2052	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	LPPR4_ENST00000370184.1_Missense_Mutation_p.G361W|LPPR4_ENST00000457765.1_Missense_Mutation_p.G461W	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		519					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CATGCCTGGAGGGCCAAGAGT	0.562																																						dbGAP											0													169.0	170.0	170.0					1																	99771829		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000370185.3:c.1555G>T	1.37:g.99771829G>T	ENSP00000359204:p.Gly519Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.G519W	ENST00000370185.3	37	c.1555	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755415	0.69648	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.41758	1.52;1.31;0.99	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54735	-0.8249	9	.	.	.	-15.8686	19.6238	0.95670	0.0:0.0:1.0:0.0	.	461;519	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	W	519;461;519;361	ENSP00000359204:G519W;ENSP00000394913:G461W;ENSP00000359203:G361W	.	G	+	1	0	RP4-788L13.1	99544417	1.000000	0.71417	0.615000	0.29064	0.928000	0.56348	7.558000	0.82253	2.634000	0.89283	0.585000	0.79938	GGG	RP4-788L13.1	-	NULL	ENSG00000117600		0.562	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Clone_based_vega_gene	protein_coding	OTTHUMT00000029670.2	102	0.00	0	G			99771829	99771829	+1	no_errors	ENST00000370185	ensembl	human	known	69_37n	missense	53	36.90	31	SNP	0.999	T
LRP1	4035	genome.wustl.edu	37	12	57559871	57559871	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:57559871G>A	ENST00000243077.3	+	17	3142	c.2676G>A	c.(2674-2676)caG>caA	p.Q892Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	892	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCAGATCAGCACACCTGCC	0.622																																						dbGAP											0													91.0	77.0	82.0					12																	57559871		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2676G>A	12.37:g.57559871G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Q892	ENST00000243077.3	37	c.2676	CCDS8932.1	12																																																																																			LRP1	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt	ENSG00000123384		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	119	0.00	0	G	NM_002332		57559871	57559871	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	silent	71	35.45	39	SNP	1.000	A
LRP1	4035	genome.wustl.edu	37	12	57603939	57603940	+	Frame_Shift_Ins	INS	-	-	C	rs374957759|rs368578321		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:57603939_57603940insC	ENST00000243077.3	+	81	13033_13034	c.12567_12568insC	c.(12568-12570)cccfs	p.P4190fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4190					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTCCAACGCCCCCCCCAGA	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12575dupC	12.37:g.57603947_57603947dupC	ENSP00000243077:p.Pro4190fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D4192fs	ENST00000243077.3	37	c.12567_12568	CCDS8932.1	12																																																																																			LRP1	-	superfamily_Growth_fac_rcpt	ENSG00000123384		0.639	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	68	0.00	0	-	NM_002332		57603939	57603940	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	frame_shift_ins	45	30.77	20	INS	0.037:0.113	C
LRP1B	53353	genome.wustl.edu	37	2	141259407	141259407	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:141259407delT	ENST00000389484.3	-	55	9670	c.8699delA	c.(8698-8700)aatfs	p.N2900fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2900	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCACCTGCCATTTTTGCACAT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													47.0	46.0	46.0					2																	141259407		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8699delA	2.37:g.141259407delT	ENSP00000374135:p.Asn2900fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.N2900fs	ENST00000389484.3	37	c.8699	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	200	0.00	0	T	NM_018557		141259407	141259407	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	frame_shift_del	157	35.48	88	DEL	1.000	-
LRP2	4036	genome.wustl.edu	37	2	169997024	169997025	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:169997024_169997025insG	ENST00000263816.3	-	72	13424_13425	c.13139_13140insC	c.(13138-13140)ccafs	p.P4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCACCTGCATGGGGGGGGCAG	0.535																																						dbGAP											0			GRCh37	CI073757	LRP2	I	rs80338754																																			-	-	-	SO:0001589	frameshift_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13140dupC	2.37:g.169997032_169997032dupG	ENSP00000263816:p.Pro4380fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00711|Q16215	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C4381fs	ENST00000263816.3	37	c.13140_13139	CCDS2232.1	2																																																																																			LRP2	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000081479		0.535	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	158	0.63	1	-	NM_004525		169997024	169997025	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	frame_shift_ins	143	22.70	42	INS	1.000:1.000	G
LRRC15	131578	genome.wustl.edu	37	3	194080416	194080416	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:194080416A>G	ENST00000347624.3	-	2	1442	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R	LRRC15_ENST00000428839.1_Missense_Mutation_p.C459R|LRRC15_ENST00000439944.2_Missense_Mutation_p.C459R	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	453	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGGCTGAAACACACAGGTACA	0.552																																						dbGAP											0													103.0	89.0	94.0					3																	194080416		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1357T>C	3.37:g.194080416A>G	ENSP00000306276:p.Cys453Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.C459R	ENST00000347624.3	37	c.1375	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	A	12.51	1.958762	0.34565	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.26373	1.74;1.74;1.74	5.13	5.13	0.70059	Cysteine-rich flanking region, C-terminal (1);	0.202680	0.35096	N	0.003444	T	0.61776	0.2374	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.972;0.999	T	0.73347	-0.4011	10	0.72032	D	0.01	.	15.2517	0.73552	1.0:0.0:0.0:0.0	.	453;459	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	R	453;459;459	ENSP00000306276:C453R;ENSP00000389128:C459R;ENSP00000413707:C459R	ENSP00000306276:C453R	C	-	1	0	LRRC15	195561711	1.000000	0.71417	0.992000	0.48379	0.065000	0.16274	5.712000	0.68407	2.072000	0.62099	0.533000	0.62120	TGT	LRRC15	-	smart_Cys-rich_flank_reg_C	ENSG00000172061		0.552	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	326	0.30	1	A			194080416	194080416	-1	no_errors	ENST00000439944	ensembl	human	known	69_37n	missense	165	39.93	111	SNP	1.000	G
LRRC17	10234	genome.wustl.edu	37	7	102584993	102584993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:102584993delA	ENST00000339431.4	+	4	1560	c.1265delA	c.(1264-1266)gaafs	p.E422fs	FBXL13_ENST00000455112.2_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	422					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GATGAATGGGAAAAAAAACAT	0.338																																						dbGAP											0													80.0	78.0	78.0					7																	102584993		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1265delA	7.37:g.102584993delA	ENSP00000344242:p.Glu422fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13288|Q6UWA7|Q75MG5	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K424fs	ENST00000339431.4	37	c.1265	CCDS34721.1	7																																																																																			LRRC17	-	NULL	ENSG00000128606		0.338	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	HGNC	protein_coding	OTTHUMT00000347930.1	171	0.00	0	A	NM_005824		102584993	102584993	+1	no_errors	ENST00000339431	ensembl	human	known	69_37n	frame_shift_del	108	41.49	78	DEL	1.000	-
LRRC24	441381	genome.wustl.edu	37	8	145748042	145748042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:145748042delG	ENST00000529415.2	-	5	1476	c.1359delC	c.(1357-1359)cccfs	p.P453fs	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Frame_Shift_Del_p.P450fs|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	453						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGAACGTACAGGGGCCGTCCA	0.677																																						dbGAP											0													16.0	16.0	16.0					8																	145748042		2178	4285	6463	-	-	-	SO:0001589	frameshift_variant	0			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1359delC	8.37:g.145748042delG	ENSP00000434849:p.Pro453fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.C454fs	ENST00000529415.2	37	c.1359	CCDS34969.1	8																																																																																			LRRC24	-	NULL	ENSG00000254402		0.677	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2	26	0.00	0	G	NM_001024678		145748042	145748042	-1	no_errors	ENST00000529415	ensembl	human	known	69_37n	frame_shift_del	18	35.71	10	DEL	1.000	-
LRRC32	2615	genome.wustl.edu	37	11	76372553	76372553	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:76372553C>A	ENST00000407242.2	-	3	327		c.e3-1		AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Splice_Site|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Splice_Site	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32						negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCTTGTCCACCTGGGGAGGGG	0.612																																						dbGAP											0													16.0	16.0	16.0					11																	76372553		2199	4291	6490	-	-	-	SO:0001630	splice_region_variant	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.85-1G>T	11.37:g.76372553C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86V06	Splice_Site	SNP	-	e2-1	ENST00000407242.2	37	c.85-1	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	11.47	1.646959	0.29246	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4501	0.90700	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRC32	76050201	1.000000	0.71417	0.999000	0.59377	0.277000	0.26821	6.801000	0.75170	2.595000	0.87683	0.561000	0.74099	.	LRRC32	-	-	ENSG00000137507		0.612	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	75	0.00	0	C	NM_005512	Intron	76372553	76372553	-1	no_errors	ENST00000260061	ensembl	human	known	69_37n	splice_site	41	45.33	34	SNP	1.000	A
LRRC4	64101	genome.wustl.edu	37	7	127670590	127670590	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:127670590A>G	ENST00000249363.3	-	2	361	c.104T>C	c.(103-105)aTc>aCc	p.I35T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	35					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGCAGCAGCGATGGCTGCACA	0.632																																						dbGAP											0													66.0	69.0	68.0					7																	127670590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.104T>C	7.37:g.127670590A>G	ENSP00000249363:p.Ile35Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I35T	ENST00000249363.3	37	c.104	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767430	0.31320	.	.	ENSG00000128594	ENST00000249363;ENST00000476782;ENST00000478726	T;T	0.61627	0.09;1.9	4.66	2.21	0.28008	.	0.334448	0.28198	N	0.016222	T	0.29288	0.0729	N	0.08118	0	0.25139	N	0.990513	B	0.02656	0.0	B	0.01281	0.0	T	0.11542	-1.0583	10	0.21540	T	0.41	.	4.5842	0.12273	0.7027:0.1956:0.1016:0.0	.	35	Q9HBW1	LRRC4_HUMAN	T	35	ENSP00000249363:I35T;ENSP00000418093:I35T	ENSP00000249363:I35T	I	-	2	0	LRRC4	127457826	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	0.688000	0.25422	0.262000	0.21774	0.533000	0.62120	ATC	LRRC4	-	NULL	ENSG00000128594		0.632	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	123	0.00	0	A	NM_022143		127670590	127670590	-1	no_errors	ENST00000249363	ensembl	human	known	69_37n	missense	77	32.46	37	SNP	1.000	G
LRRC41	10489	genome.wustl.edu	37	1	46744490	46744491	+	3'UTR	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:46744490_46744491insA	ENST00000343304.6	-	0	2770_2771				LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41						protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTTCAGCCCCTGCAAGCTGAT	0.52																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.*47->T	1.37:g.46744490_46744491insA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	RNA	INS	-	NULL	ENST00000343304.6	37	NULL	CCDS533.1	1																																																																																			LRRC41	-	-	ENSG00000132128		0.520	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	29	0.00	0	-	NM_006369		46744490	46744491	-1	no_errors	ENST00000472710	ensembl	human	known	69_37n	rna	29	27.50	11	INS	0.972:0.977	A
LRRC48	83450	genome.wustl.edu	37	17	17900865	17900865	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:17900865A>G	ENST00000399187.1	+	9	1134	c.916A>G	c.(916-918)Agt>Ggt	p.S306G	LRRC48_ENST00000313838.8_Missense_Mutation_p.S306G|LRRC48_ENST00000411504.2_Missense_Mutation_p.S306G|LRRC48_ENST00000399182.1_Missense_Mutation_p.S306G|LRRC48_ENST00000584166.1_Missense_Mutation_p.S306G	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	306						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TGACACCTTCAGTGAATGTGT	0.512																																						dbGAP											0													79.0	76.0	77.0					17																	17900865		2059	4209	6268	-	-	-	SO:0001583	missense	0			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.916A>G	17.37:g.17900865A>G	ENSP00000382140:p.Ser306Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	NULL	p.S306G	ENST00000399187.1	37	c.916	CCDS45622.1	17	.	.	.	.	.	.	.	.	.	.	A	9.714	1.157761	0.21454	.	.	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.56	2.06	0.26882	.	0.760107	0.13240	N	0.402905	T	0.22205	0.0535	N	0.14661	0.345	0.80722	D	1	B;B	0.15473	0.008;0.013	B;B	0.21151	0.006;0.033	T	0.06197	-1.0840	10	0.17369	T	0.5	-0.3644	6.2036	0.20590	0.6415:0.1336:0.0:0.2249	.	306;306	Q9H069;Q9H069-2	LRC48_HUMAN;.	G	306	ENSP00000326870:S306G;ENSP00000394020:S306G;ENSP00000382140:S306G;ENSP00000382136:S306G	ENSP00000326870:S306G	S	+	1	0	LRRC48	17841590	0.177000	0.23109	0.821000	0.32701	0.822000	0.46500	0.271000	0.18626	0.672000	0.31204	0.459000	0.35465	AGT	LRRC48	-	NULL	ENSG00000171962		0.512	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	226	0.00	0	A	NM_031294		17900865	17900865	+1	no_errors	ENST00000313838	ensembl	human	known	69_37n	missense	160	34.69	85	SNP	0.964	G
LRRC45	201255	genome.wustl.edu	37	17	79981611	79981611	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:79981611C>T	ENST00000306688.3	+	1	434	c.92C>T	c.(91-93)cCc>cTc	p.P31L	STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000583767.1_5'Flank|STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000584347.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000306704.6_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	31						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CACCAGCTTCCCAGGGGCCGG	0.706																																						dbGAP											0													8.0	8.0	8.0					17																	79981611		2127	4209	6336	-	-	-	SO:0001583	missense	0			BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.92C>T	17.37:g.79981611C>T	ENSP00000306760:p.Pro31Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P31L	ENST00000306688.3	37	c.92	CCDS11797.1	17	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648362	0.29336	.	.	ENSG00000169683	ENST00000306688	T	0.51071	0.72	4.54	2.52	0.30459	.	0.509670	0.20087	N	0.099536	T	0.41026	0.1141	M	0.69823	2.125	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.30446	-0.9978	9	.	.	.	-25.0563	5.1005	0.14756	0.1096:0.5435:0.2529:0.094	.	31	Q96CN5	LRC45_HUMAN	L	31	ENSP00000306760:P31L	.	P	+	2	0	LRRC45	77574900	0.000000	0.05858	0.017000	0.16124	0.917000	0.54804	0.044000	0.13992	0.640000	0.30582	0.462000	0.41574	CCC	LRRC45	-	NULL	ENSG00000169683		0.706	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC45	HGNC	protein_coding	OTTHUMT00000442058.1	14	0.00	0	C	NM_144999		79981611	79981611	+1	no_errors	ENST00000306688	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.001	T
LRRC8E	80131	genome.wustl.edu	37	19	7960502	7960502	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:7960502C>T	ENST00000306708.6	+	2	115	c.14C>T	c.(13-15)gCc>gTc	p.A5V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	5					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						ATCCCAGTGGCCGAGTTCAAG	0.627																																						dbGAP											0													125.0	91.0	102.0					19																	7960502		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.14C>T	19.37:g.7960502C>T	ENSP00000306524:p.Ala5Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A5V	ENST00000306708.6	37	c.14	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419264	0.62622	.	.	ENSG00000171017	ENST00000306708	T	0.27402	1.67	4.67	4.67	0.58626	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.184570	0.46442	D	0.000298	T	0.29945	0.0749	L	0.29908	0.895	0.35549	D	0.803708	P	0.43169	0.8	P	0.45167	0.472	T	0.43491	-0.9388	10	0.66056	D	0.02	.	15.1338	0.72545	0.0:1.0:0.0:0.0	.	5	Q6NSJ5	LRC8E_HUMAN	V	5	ENSP00000306524:A5V	ENSP00000306524:A5V	A	+	2	0	LRRC8E	7866502	0.987000	0.35691	0.985000	0.45067	0.699000	0.40488	2.742000	0.47434	2.430000	0.82344	0.491000	0.48974	GCC	LRRC8E	-	pfam_LRR_protein-8_N	ENSG00000171017		0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	101	0.00	0	C	NM_025061		7960502	7960502	+1	no_errors	ENST00000306708	ensembl	human	known	69_37n	missense	75	37.90	47	SNP	0.778	T
LRRTM4	80059	genome.wustl.edu	37	2	77746929	77746929	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:77746929C>A	ENST00000409093.1	-	3	402	c.66G>T	c.(64-66)ctG>ctT	p.L22L	LRRTM4_ENST00000409884.1_Silent_p.L22L|LRRTM4_ENST00000409282.1_Silent_p.L23L|LRRTM4_ENST00000409088.3_Silent_p.L22L|LRRTM4_ENST00000409911.1_Silent_p.L23L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	22					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAACAAGCAGCAGTGTAGGAA	0.448																																						dbGAP											0													67.0	65.0	66.0					2																	77746929		2033	4198	6231	-	-	-	SO:0001819	synonymous_variant	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.66G>T	2.37:g.77746929C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4FZ98|Q6UXJ7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L23	ENST00000409093.1	37	c.69	CCDS46346.1	2																																																																																			LRRTM4	-	NULL	ENSG00000176204		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	213	0.00	0	C	NM_024993		77746929	77746929	-1	no_errors	ENST00000409911	ensembl	human	known	69_37n	silent	144	36.00	81	SNP	0.977	A
LSM14B	149986	genome.wustl.edu	37	20	60699716	60699716	+	Silent	SNP	G	G	A	rs57762112	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:60699716G>A	ENST00000279068.6	+	2	331	c.171G>A	c.(169-171)gcG>gcA	p.A57A	LSM14B_ENST00000253001.4_Silent_p.A57A|LSM14B_ENST00000370915.1_Silent_p.A57A	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	57					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ATAGGCCTGCGCCCCCCAGAG	0.502											OREG0026104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	23	0.00459265	0.0	0.0	5008	,	,		21126	0.0228		0.0	False		,,,				2504	0.0					dbGAP											0													75.0	80.0	79.0					20																	60699716		1960	4143	6103	-	-	-	SO:0001819	synonymous_variant	0			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.171G>A	20.37:g.60699716G>A		Somatic	1048	WXS	Illumina GAIIx	Phase_IV	Q6PFW8|Q96LH8	Silent	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.A57	ENST00000279068.6	37	c.171	CCDS46626.1	20																																																																																			LSM14B	-	superfamily_LSM_dom	ENSG00000149657		0.502	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	117	0.85	1	G	NM_144703		60699716	60699716	+1	no_errors	ENST00000253001	ensembl	human	known	69_37n	silent	95	40.99	66	SNP	0.504	A
LTBR	4055	genome.wustl.edu	37	12	6497483	6497483	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:6497483G>A	ENST00000228918.4	+	7	993				LTBR_ENST00000541102.1_Intron|LTBR_ENST00000543190.1_Intron|LTBR_ENST00000539925.1_Intron	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTTGCCCAGGGATCTGGAAAG	0.532																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.668-81G>A	12.37:g.6497483G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1D2|D3DUR2|F5GXE7	RNA	SNP	-	NULL	ENST00000228918.4	37	NULL	CCDS8544.1	12																																																																																			LTBR	-	-	ENSG00000111321		0.532	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	134	0.00	0	G			6497483	6497483	+1	no_errors	ENST00000541005	ensembl	human	known	69_37n	rna	70	39.13	45	SNP	0.002	A
LY75	4065	genome.wustl.edu	37	2	160692127	160692127	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:160692127C>A	ENST00000263636.4	-	26	3564	c.3537G>T	c.(3535-3537)ggG>ggT	p.G1179G	LY75-CD302_ENST00000505052.1_Silent_p.G1179G|LY75_ENST00000554112.1_Silent_p.G1179G|LY75_ENST00000553424.1_Silent_p.G1179G|LY75-CD302_ENST00000504764.1_Silent_p.G1179G	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1179	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAAGACGTTTCCCATCTGACC	0.408																																						dbGAP											0													105.0	99.0	101.0					2																	160692127		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3537G>T	2.37:g.160692127C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.G1179	ENST00000263636.4	37	c.3537	CCDS2211.1	2																																																																																			LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.408	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	152	0.00	0	C			160692127	160692127	-1	no_errors	ENST00000554112	ensembl	human	known	69_37n	silent	89	47.65	81	SNP	1.000	A
LYST	1130	genome.wustl.edu	37	1	235856727	235856727	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:235856727C>T	ENST00000389794.3	-	47	10798	c.10624G>A	c.(10624-10626)Gct>Act	p.A3542T	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.A3542T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3542					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATATTATCAGCATATCCCCAG	0.383																																						dbGAP											0													118.0	116.0	117.0					1																	235856727		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10624G>A	1.37:g.235856727C>T	ENSP00000374444:p.Ala3542Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A3542T	ENST00000389794.3	37	c.10624	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702050	0.68501	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62941	-0.01;-0.01	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.373031	0.32785	N	0.005649	T	0.48857	0.1523	N	0.08118	0	0.80722	D	1	P	0.52577	0.954	P	0.49226	0.603	T	0.47736	-0.9094	10	0.02654	T	1	.	20.0561	0.97651	0.0:1.0:0.0:0.0	.	3542	Q99698	LYST_HUMAN	T	3542	ENSP00000374444:A3542T;ENSP00000374443:A3542T	ENSP00000374443:A3542T	A	-	1	0	LYST	233923350	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	4.570000	0.60872	2.745000	0.94114	0.638000	0.83543	GCT	LYST	-	superfamily_WD40_repeat_dom	ENSG00000143669		0.383	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	208	0.00	0	C			235856727	235856727	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	375	15.32	68	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235926116	235926116	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:235926116T>C	ENST00000389794.3	-	22	6331	c.6157A>G	c.(6157-6159)Atg>Gtg	p.M2053V	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.M2053V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2053					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTCAGGTACATGATTGACCGC	0.373																																						dbGAP											0													95.0	80.0	85.0					1																	235926116		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.6157A>G	1.37:g.235926116T>C	ENSP00000374444:p.Met2053Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M2053V	ENST00000389794.3	37	c.6157	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342350	0.24339	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61627	0.09;0.09	5.45	-1.0	0.10196	.	0.442551	0.32328	N	0.006245	T	0.42630	0.1211	L	0.38838	1.175	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22556	-1.0213	10	0.49607	T	0.09	.	10.5544	0.45107	0.0:0.4149:0.0:0.5851	.	2053	Q99698	LYST_HUMAN	V	2053	ENSP00000374444:M2053V;ENSP00000374443:M2053V	ENSP00000374443:M2053V	M	-	1	0	LYST	233992739	1.000000	0.71417	0.993000	0.49108	0.904000	0.53231	0.912000	0.28597	-0.114000	0.11936	0.402000	0.26972	ATG	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	132	0.00	0	T			235926116	235926116	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	309	16.71	62	SNP	0.999	C
LYST	1130	genome.wustl.edu	37	1	235972931	235972931	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:235972931T>C	ENST00000389794.3	-	5	1361	c.1187A>G	c.(1186-1188)cAt>cGt	p.H396R	LYST_ENST00000536965.1_Missense_Mutation_p.H396R|LYST_ENST00000389793.2_Missense_Mutation_p.H396R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	396					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAGGGCTCTATGACGATACTT	0.413																																						dbGAP											0													112.0	117.0	115.0					1																	235972931		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1187A>G	1.37:g.235972931T>C	ENSP00000374444:p.His396Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H396R	ENST00000389794.3	37	c.1187	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481345	0.63849	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.14516	2.5;2.5;2.5	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.02766	-1.1113	10	0.25106	T	0.35	.	15.7025	0.77552	0.0:0.0:0.0:1.0	.	396;396	Q99698-3;Q99698	.;LYST_HUMAN	R	396	ENSP00000374444:H396R;ENSP00000374443:H396R;ENSP00000438315:H396R	ENSP00000374443:H396R	H	-	2	0	LYST	234039554	1.000000	0.71417	0.108000	0.21378	0.980000	0.70556	8.040000	0.89188	2.111000	0.64477	0.482000	0.46254	CAT	LYST	-	NULL	ENSG00000143669		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	146	0.00	0	T			235972931	235972931	-1	no_errors	ENST00000389793	ensembl	human	known	69_37n	missense	313	16.53	62	SNP	0.998	C
MAGIX	79917	genome.wustl.edu	37	X	49021636	49021636	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:49021636C>T	ENST00000412696.2	+	5	616	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	MAGIX_ENST00000376339.1_Missense_Mutation_p.R147C|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376338.3_Missense_Mutation_p.R147C|MAGIX_ENST00000425661.2_Missense_Mutation_p.R130C	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	206	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.																CCTGGTTATTCGTCGGCCTCT	0.632																																						dbGAP											0													11.0	12.0	12.0					X																	49021636		1876	4069	5945	-	-	-	SO:0001583	missense	0			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.616C>T	X.37:g.49021636C>T	ENSP00000387928:p.Arg206Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R206C	ENST00000412696.2	37	c.616	CCDS48106.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.23|10.23	1.293630|1.293630	0.23564|0.23564	.|.	.|.	ENSG00000017621|ENSG00000017621	ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342|ENST00000458388	T;T;T;T;T;T|.	0.28666|.	1.6;1.6;1.6;1.6;1.6;1.6|.	4.31|4.31	-4.06|-4.06	0.03986|0.03986	PDZ/DHR/GLGF (4);|.	1.910140|.	0.02690|.	N|.	0.110546|.	T|T	0.55162|0.55162	0.1903|0.1903	M|M	0.88105|0.88105	2.93|2.93	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.18013|.	0.008;0.004;0.025;0.025;0.009|.	B;B;B;B;B|.	0.10450|.	0.002;0.003;0.003;0.003;0.005|.	T|T	0.54728|0.54728	-0.8250|-0.8250	10|5	0.87932|.	D|.	0|.	0.853|0.853	3.8708|3.8708	0.09036|0.09036	0.4383:0.251:0.0:0.3108|0.4383:0.251:0.0:0.3108	.|.	130;206;147;147;78|.	F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123|.	.;MAGIX_HUMAN;.;.;.|.	C|L	147;130;206;147;152;78|135	ENSP00000365517:R147C;ENSP00000403515:R130C;ENSP00000387928:R206C;ENSP00000365516:R147C;ENSP00000411713:R152C;ENSP00000400147:R78C|.	ENSP00000365516:R147C|.	R|S	+|+	1|2	0|0	MAGIX|MAGIX	48908580|48908580	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.116000|-1.116000	0.03286|0.03286	-1.304000|-1.304000	0.02329|0.02329	-0.237000|-0.237000	0.12165|0.12165	CGT|TCG	MAGIX	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000017621		0.632	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	41	0.00	0	C	NM_024859		49021636	49021636	+1	no_errors	ENST00000412696	ensembl	human	known	69_37n	missense	29	38.78	19	SNP	0.000	T
MAML2	84441	genome.wustl.edu	37	11	96074878	96074878	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:96074878C>T	ENST00000524717.1	-	1	1466	c.182G>A	c.(181-183)gGt>gAt	p.G61D	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	61					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTCGGCCCTACCTCGTTCATA	0.602			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													21.0	25.0	24.0					11																	96074878		2101	4226	6327	-	-	-	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.182G>A	11.37:g.96074878C>T	ENSP00000434552:p.Gly61Asp	Somatic	1317	WXS	Illumina GAIIx	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.G61D	ENST00000524717.1	37	c.182	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112996	0.56398	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.49432	0.78;0.78	4.78	4.78	0.61160	Neurogenic mastermind-like, N-terminal (1);	.	.	.	.	T	0.59514	0.2199	L	0.36672	1.1	0.38231	D	0.941026	D	0.89917	1.0	D	0.78314	0.991	T	0.64441	-0.6407	9	0.51188	T	0.08	.	16.6146	0.84903	0.0:1.0:0.0:0.0	.	61	Q8IZL2	MAML2_HUMAN	D	61	ENSP00000434552:G61D;ENSP00000412394:G61D	ENSP00000412394:G61D	G	-	2	0	MAML2	95714526	1.000000	0.71417	0.939000	0.37840	0.831000	0.47069	4.494000	0.60347	2.225000	0.72522	0.561000	0.74099	GGT	MAML2	-	pfam_Neuroggenic_mastermind-like_N	ENSG00000184384		0.602	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	57	0.00	0	C			96074878	96074878	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	missense	40	42.86	30	SNP	0.999	T
MAML3	55534	genome.wustl.edu	37	4	140640638	140640638	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:140640638G>A	ENST00000509479.2	-	5	4112	c.3256C>T	c.(3256-3258)Cgg>Tgg	p.R1086W	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGGGCATTCCGCTCATAGGCT	0.617																																						dbGAP											0													52.0	57.0	55.0					4																	140640638		2186	4293	6479	-	-	-	SO:0001583	missense	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.3256C>T	4.37:g.140640638G>A	ENSP00000421180:p.Arg1086Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.R1086W	ENST00000509479.2	37	c.3256	CCDS54805.1	4	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692234	0.48202	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.34667	1.35	4.92	4.06	0.47325	.	0.000000	0.64402	D	0.000001	T	0.57946	0.2088	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.61178	-0.7115	10	0.87932	D	0	.	8.6259	0.33888	0.0:0.1229:0.5782:0.2988	.	1086;1082	E7EVW8;Q96JK9	.;MAML3_HUMAN	W	1086;393	ENSP00000421180:R1086W	ENSP00000421180:R1086W	R	-	1	2	MAML3	140860088	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	1.103000	0.31062	1.176000	0.42840	0.591000	0.81541	CGG	MAML3	-	NULL	ENSG00000196782		0.617	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	145	0.00	0	G			140640638	140640638	-1	no_errors	ENST00000509479	ensembl	human	known	69_37n	missense	86	44.16	68	SNP	1.000	A
MAMLD1	10046	genome.wustl.edu	37	X	149638928	149638928	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:149638928delC	ENST00000370401.2	+	4	1393	c.1083delC	c.(1081-1083)agcfs	p.S361fs	MAMLD1_ENST00000426613.2_Frame_Shift_Del_p.S336fs|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Frame_Shift_Del_p.S336fs|MAMLD1_ENST00000262858.5_Frame_Shift_Del_p.S361fs			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	361					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ccccaTTCAGCCCCCAGAGCC	0.612																																						dbGAP											0													84.0	70.0	74.0					X																	149638928		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1083delC	X.37:g.149638928delC	ENSP00000359428:p.Ser361fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCQ4|B4DG93|B9EGA5	Frame_Shift_Del	DEL	NULL	p.Q338fs	ENST00000370401.2	37	c.1008	CCDS14693.2	X																																																																																			MAMLD1	-	NULL	ENSG00000013619		0.612	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	89	0.00	0	C	NM_005491		149638928	149638928	+1	no_errors	ENST00000432680	ensembl	human	known	69_37n	frame_shift_del	53	27.27	21	DEL	1.000	-
MAN2A2	4122	genome.wustl.edu	37	15	91450543	91450543	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:91450543G>A	ENST00000559717.1	+	8	1473	c.1014G>A	c.(1012-1014)tcG>tcA	p.S338S	MAN2A2_ENST00000360468.3_Silent_p.S338S|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	338					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGCAGACTCGGACTCCAGCA	0.567																																						dbGAP											0													90.0	85.0	87.0					15																	91450543		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1014G>A	15.37:g.91450543G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH12|A8K1E8|Q13754	Silent	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S338	ENST00000559717.1	37	c.1014	CCDS32332.1	15																																																																																			MAN2A2	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000196547		0.567	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	72	0.00	0	G	NM_006122		91450543	91450543	+1	no_errors	ENST00000360468	ensembl	human	known	69_37n	silent	50	32.00	24	SNP	0.004	A
MAN2B1	4125	genome.wustl.edu	37	19	12768311	12768311	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:12768311G>A	ENST00000456935.2	-	11	1408	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	MAN2B1_ENST00000221363.4_Silent_p.H455H|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	456					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGTTGGCCACGTGCTGGCGGG	0.667																																						dbGAP											0													12.0	9.0	10.0					19																	12768311		2152	4224	6376	-	-	-	SO:0001819	synonymous_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1368C>T	19.37:g.12768311G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.H456	ENST00000456935.2	37	c.1368	CCDS32919.1	19																																																																																			MAN2B1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom	ENSG00000104774		0.667	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	14	0.00	0	G			12768311	12768311	-1	no_errors	ENST00000456935	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.992	A
MAP1A	4130	genome.wustl.edu	37	15	43813746	43813747	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:43813746_43813747insC	ENST00000300231.5	+	4	525_526	c.75_76insC	c.(76-78)cccfs	p.P26fs	MAP1A_ENST00000399453.1_Frame_Shift_Ins_p.P26fs|MAP1A_ENST00000382031.1_Frame_Shift_Ins_p.P264fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	26					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)	ACCTACTAGAGCCCCCCACCTC	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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.81dupC	15.37:g.43813752_43813752dupC	ENSP00000300231:p.Pro26fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Ins	INS	NULL	p.T27fs	ENST00000300231.5	37	c.75_76	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.569	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	230	0.00	0	-	NM_002373		43813746	43813747	+1	no_errors	ENST00000399453	ensembl	human	known	69_37n	frame_shift_ins	164	32.51	79	INS	1.000:1.000	C
MAP3K1	4214	genome.wustl.edu	37	5	56160724	56160724	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:56160724G>T	ENST00000399503.3	+	4	998	c.998G>T	c.(997-999)aGc>aTc	p.S333I	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	333					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GGAGGAGACAGCCCAGACAAT	0.438																																						dbGAP											0													98.0	97.0	97.0					5																	56160724		1863	4098	5961	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.998G>T	5.37:g.56160724G>T	ENSP00000382423:p.Ser333Ile	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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.S333I	ENST00000399503.3	37	c.998	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737453	0.89482	.	.	ENSG00000095015	ENST00000399503	T	0.72051	-0.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81823	0.4904	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.82661	-0.0347	10	0.87932	D	0	.	19.7555	0.96287	0.0:0.0:1.0:0.0	.	333	Q13233	M3K1_HUMAN	I	333	ENSP00000382423:S333I	ENSP00000382423:S333I	S	+	2	0	MAP3K1	56196481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.566000	0.73978	2.737000	0.93849	0.563000	0.77884	AGC	MAP3K1	-	NULL	ENSG00000095015		0.438	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	233	0.00	0	G	XM_042066		56160724	56160724	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	189	33.91	98	SNP	1.000	T
KCNK7	10089	genome.wustl.edu	37	11	65365835	65365835	+	5'Flank	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:65365835delC	ENST00000340313.4	-	0	0				MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs|MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Frame_Shift_Del_p.G824fs|MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|KCNK7_ENST00000394217.2_5'Flank|KCNK7_ENST00000394216.2_5'Flank|KCNK7_ENST00000342202.4_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						GTCCTGGGGGCCCCCCTGGAA	0.701																																						dbGAP											0													16.0	20.0	19.0					11																	65365835		2198	4296	6494	-	-	-	SO:0001631	upstream_gene_variant	0			AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365835delC	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SYI2|Q9Y2U3|Q9Y2U4	Frame_Shift_Del	DEL	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.G824fs	ENST00000340313.4	37	c.2471	CCDS31608.1	11																																																																																			MAP3K11	-	pirsf_MAPKKK9/10/11	ENSG00000173327		0.701	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390206.1	66	0.00	0	C	NM_005714		65365835	65365835	-1	no_errors	ENST00000309100	ensembl	human	known	69_37n	frame_shift_del	31	39.62	21	DEL	0.196	-
MAP3K12	7786	genome.wustl.edu	37	12	53879891	53879891	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:53879891A>G	ENST00000267079.2	-	5	896	c.671T>C	c.(670-672)aTg>aCg	p.M224T	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_Missense_Mutation_p.M257T|MAP3K12_ENST00000547035.1_Missense_Mutation_p.M257T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGGTAGTTCATGCCACCAGC	0.582																																						dbGAP											0													136.0	115.0	122.0					12																	53879891		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.671T>C	12.37:g.53879891A>G	ENSP00000267079:p.Met224Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M224T	ENST00000267079.2	37	c.671	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872469	0.72180	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.90324	-2.65;-2.65;-2.65	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000033	D	0.96685	0.8918	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97801	1.0244	10	0.87932	D	0	.	14.6471	0.68769	1.0:0.0:0.0:0.0	.	257;224	G3V1Y2;Q12852	.;M3K12_HUMAN	T	224;257;257	ENSP00000267079:M224T;ENSP00000449038:M257T;ENSP00000448689:M257T	ENSP00000267079:M224T	M	-	2	0	MAP3K12	52166158	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.171000	0.68590	0.459000	0.35465	ATG	MAP3K12	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000139625		0.582	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	166	0.60	1	A	NM_006301		53879891	53879891	-1	no_errors	ENST00000267079	ensembl	human	known	69_37n	missense	129	37.98	79	SNP	1.000	G
MAPK4	5596	genome.wustl.edu	37	18	48256159	48256159	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:48256159G>A	ENST00000400384.2	+	6	2735	c.1699G>A	c.(1699-1701)Gcg>Acg	p.A567T	MAPK4_ENST00000540640.1_Missense_Mutation_p.A356T|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	567					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCTCAATGGTGCGTGCATCCC	0.657																																						dbGAP											0													21.0	25.0	24.0					18																	48256159		2083	4192	6275	-	-	-	SO:0001583	missense	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1699G>A	18.37:g.48256159G>A	ENSP00000383234:p.Ala567Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4C4|Q0VG04	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_MAPK_ERK3/4	p.A567T	ENST00000400384.2	37	c.1699	CCDS42437.1	18	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460347	0.63401	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.72615	-0.67;1.1	5.22	5.22	0.72569	.	4.000590	0.00802	N	0.001436	T	0.67154	0.2863	N	0.24115	0.695	0.80722	D	1	B	0.24533	0.105	B	0.18871	0.023	T	0.30297	-0.9983	10	0.87932	D	0	-12.8624	17.5783	0.87957	0.0:0.0:1.0:0.0	.	567	P31152	MK04_HUMAN	T	567;356	ENSP00000383234:A567T;ENSP00000439231:A356T	ENSP00000383234:A567T	A	+	1	0	MAPK4	46510157	1.000000	0.71417	0.910000	0.35882	0.500000	0.33767	3.603000	0.54074	2.411000	0.81874	0.655000	0.94253	GCG	MAPK4	-	NULL	ENSG00000141639		0.657	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	23	0.00	0	G	NM_002747		48256159	48256159	+1	no_errors	ENST00000400384	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.938	A
MAPKAP1	79109	genome.wustl.edu	37	9	128201231	128201232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:128201231_128201232insT	ENST00000373498.1	-	11	1571_1572	c.1503_1504insA	c.(1501-1506)aaacaafs	p.Q502fs	MAPKAP1_ENST00000373503.3_Frame_Shift_Ins_p.Q310fs|MAPKAP1_ENST00000394063.1_Frame_Shift_Ins_p.Q310fs|MAPKAP1_ENST00000265960.3_Frame_Shift_Ins_p.Q502fs|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Frame_Shift_Ins_p.Q466fs|MAPKAP1_ENST00000373511.2_Frame_Shift_Ins_p.Q455fs|MAPKAP1_ENST00000373497.5_Frame_Shift_Ins_p.Q215fs			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	502	Interaction with ATF2.			Q -> K (in Ref. 9; AAA36551). {ECO:0000305}.	epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AGTTTTCTTTGTTTTTGAGCAA	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.1504dupA	9.37:g.128201236_128201236dupT	ENSP00000362597:p.Gln502fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Frame_Shift_Ins	INS	pfam_SIN1	p.Q501fs	ENST00000373498.1	37	c.1504_1503	CCDS35140.1	9																																																																																			MAPKAP1	-	NULL	ENSG00000119487		0.530	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	362	0.00	0	-			128201231	128201232	-1	no_errors	ENST00000265960	ensembl	human	known	69_37n	frame_shift_ins	231	34.93	124	INS	1.000:1.000	T
MAPKBP1	23005	genome.wustl.edu	37	15	42114459	42114459	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:42114459T>C	ENST00000456763.2	+	27	3282	c.3086T>C	c.(3085-3087)aTc>aCc	p.I1029T	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.I1023T|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.I1023T|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.I862T|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.I906T	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1029										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGGATGGCATCTCCTCAGAC	0.622																																						dbGAP											0													49.0	46.0	47.0					15																	42114459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3086T>C	15.37:g.42114459T>C	ENSP00000393099:p.Ile1029Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1029T	ENST00000456763.2	37	c.3086	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	8.320	0.824015	0.16678	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.39787	1.23;1.4;1.06;1.28;1.36	4.91	3.79	0.43588	.	0.484707	0.22512	N	0.059096	T	0.21509	0.0518	N	0.19112	0.55	0.33183	D	0.549833	B;B;B;B;B;B	0.29301	0.013;0.023;0.024;0.241;0.009;0.035	B;B;B;B;B;B	0.25140	0.007;0.011;0.005;0.058;0.008;0.017	T	0.20140	-1.0284	10	0.19590	T	0.45	-10.0134	4.1967	0.10447	0.1773:0.094:0.0:0.7287	.	862;906;862;1023;1029;1023	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	T	1023;906;862;1029;1023	ENSP00000397570:I1023T;ENSP00000221214:I906T;ENSP00000260357:I862T;ENSP00000393099:I1029T;ENSP00000426154:I1023T	ENSP00000221214:I906T	I	+	2	0	MAPKBP1	39901751	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.706000	0.47135	0.916000	0.36871	0.459000	0.35465	ATC	MAPKBP1	-	NULL	ENSG00000137802		0.622	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	62	0.00	0	T	NM_014994		42114459	42114459	+1	no_errors	ENST00000456763	ensembl	human	known	69_37n	missense	35	35.71	20	SNP	1.000	C
MARCH10	162333	genome.wustl.edu	37	17	60782905	60782905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:60782905delT	ENST00000311269.5	-	10	2640	c.2366delA	c.(2365-2367)aatfs	p.N789fs	RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Del_p.N789fs|MARCH10_ENST00000582358.1_5'Flank|MARCH10_ENST00000583600.1_Frame_Shift_Del_p.N827fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Frame_Shift_Del_p.N788fs	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	789					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCTACTTTCATTTTCCTCTGT	0.393																																						dbGAP											0													113.0	99.0	104.0					17																	60782905		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.2366delA	17.37:g.60782905delT	ENSP00000311496:p.Asn789fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU09|Q8IYS7|Q8N7Z7	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.N789fs	ENST00000311269.5	37	c.2366	CCDS11635.1	17																																																																																			MARCH10	-	NULL	ENSG00000173838		0.393	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	298	0.00	0	T	NM_152598		60782905	60782905	-1	no_errors	ENST00000311269	ensembl	human	known	69_37n	frame_shift_del	553	15.20	100	DEL	0.998	-
MARCH6	10299	genome.wustl.edu	37	5	10430051	10430052	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:10430051_10430052insT	ENST00000274140.5	+	25	2685_2686	c.2553_2554insT	c.(2554-2556)tttfs	p.F852fs	MARCH6_ENST00000510792.1_Frame_Shift_Ins_p.F550fs|MARCH6_ENST00000503788.1_Frame_Shift_Ins_p.F747fs|MARCH6_ENST00000449913.2_Frame_Shift_Ins_p.F804fs	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	852					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGATTTATCCATTTTTACTGAT	0.381																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2558dupT	5.37:g.10430056_10430056dupT	ENSP00000274140:p.Phe852fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L852fs	ENST00000274140.5	37	c.2553_2554	CCDS34135.1	5																																																																																			MARCH6	-	NULL	ENSG00000145495		0.381	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	538	0.00	0	-	NM_005885		10430051	10430052	+1	no_errors	ENST00000274140	ensembl	human	known	69_37n	frame_shift_ins	449	27.35	169	INS	0.388:0.996	T
MARVELD3	91862	genome.wustl.edu	37	16	71663366	71663366	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:71663366C>T	ENST00000268485.3	+	2	608	c.564C>T	c.(562-564)tgC>tgT	p.C188C	MARVELD3_ENST00000567501.1_Missense_Mutation_p.P2S|MARVELD3_ENST00000299952.4_Silent_p.C188C|RP11-432I5.2_ENST00000562763.1_RNA|MARVELD3_ENST00000565261.1_Missense_Mutation_p.A134V|MARVELD3_ENST00000567566.1_Silent_p.C188C	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	188					cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TCCTGGAATGCCACAAATGCA	0.532																																						dbGAP											0													115.0	106.0	109.0					16																	71663366		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.564C>T	16.37:g.71663366C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	NULL	p.A134V	ENST00000268485.3	37	c.401	CCDS10904.1	16																																																																																			MARVELD3	-	NULL	ENSG00000140832		0.532	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	MARVELD3	HGNC	protein_coding	OTTHUMT00000268991.2	142	0.70	1	C	NM_052858		71663366	71663366	+1	no_errors	ENST00000565261	ensembl	human	putative	69_37n	missense	106	34.16	55	SNP	1.000	T
MBL1P	8512	genome.wustl.edu	37	10	81667511	81667511	+	IGR	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:81667511delG								NUTM2E (56879 upstream) : MBL1P (12422 downstream)																							TAGTGGTGACGGGGCCTCCAA	0.448																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															10.37:g.81667511delG		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL		37	NULL		10																																																																																			MBL1P	-	-	ENSG00000242600	0	0.448					MBL1P	HGNC			69	0.00	0	G			81667511	81667511	+1	no_errors	ENST00000453174	ensembl	human	known	69_37n	rna	34	51.32	39	DEL	0.976	-
MBOAT7	79143	genome.wustl.edu	37	19	54678002	54678002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:54678002delC	ENST00000245615.1	-	8	1635	c.1155delG	c.(1153-1155)gggfs	p.G385fs	MBOAT7_ENST00000338624.6_Frame_Shift_Del_p.G312fs|TMC4_ENST00000376591.4_5'Flank|MBOAT7_ENST00000431666.2_Frame_Shift_Del_p.G312fs|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	385					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTCAGCCGCCCCCGCAGGG	0.677																																					NSCLC(97;826 2151 10470 22540)	dbGAP											0													73.0	81.0	78.0					19																	54678002		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1155delG	19.37:g.54678002delC	ENSP00000245615:p.Gly385fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Frame_Shift_Del	DEL	pfam_MBOAT_fam	p.R386fs	ENST00000245615.1	37	c.1155	CCDS12883.1	19																																																																																			MBOAT7	-	pfam_MBOAT_fam	ENSG00000125505		0.677	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	65	0.00	0	C	NM_024298		54678002	54678002	-1	no_errors	ENST00000245615	ensembl	human	known	69_37n	frame_shift_del	51	28.00	21	DEL	0.033	-
MBP	4155	genome.wustl.edu	37	18	74701940	74701940	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:74701940T>C	ENST00000397869.3	-	2	300	c.254A>G	c.(253-255)aAc>aGc	p.N85S	MBP_ENST00000528160.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.N85S|MBP_ENST00000397865.5_Missense_Mutation_p.N85S|MBP_ENST00000397875.3_Missense_Mutation_p.N85S|MBP_ENST00000397866.4_Missense_Mutation_p.N85S|MBP_ENST00000382582.3_Missense_Mutation_p.N111S|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.N218S|MBP_ENST00000579129.1_Missense_Mutation_p.N218S|MBP_ENST00000526111.1_Missense_Mutation_p.N63S|MBP_ENST00000355994.2_Missense_Mutation_p.N218S|MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_Missense_Mutation_p.N111S			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	GACTACGGGGTTTTCATCTTG	0.577																																					NSCLC(17;72 1131 19392)	dbGAP											0													181.0	162.0	168.0					18																	74701940		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.254A>G	18.37:g.74701940T>C	ENSP00000380967:p.Asn85Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_Myelin_BP,prints_Myelin_BP	p.N218S	ENST00000397869.3	37	c.653		18	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915725	0.52546	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114;ENST00000498683	.	.	.	4.39	4.39	0.52855	.	0.119949	0.53938	D	0.000044	T	0.68081	0.2962	L	0.50333	1.59	0.36782	D	0.88439	P;D;P;P;P	0.63046	0.943;0.992;0.787;0.734;0.734	P;D;B;P;P	0.76071	0.855;0.987;0.228;0.452;0.452	T	0.73294	-0.4028	9	0.46703	T	0.11	-1.1691	11.4921	0.50387	0.0:0.0:0.0:1.0	.	85;218;85;111;111	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	S	111;218;85;85;85;111;85;63;85;29;85	.	ENSP00000348273:N218S	N	-	2	0	MBP	72830928	1.000000	0.71417	0.970000	0.41538	0.634000	0.38068	3.956000	0.56722	1.852000	0.53769	0.379000	0.24179	AAC	MBP	-	pfam_Myelin_BP,prints_Myelin_BP	ENSG00000197971		0.577	MBP-024	NOVEL	basic|exp_conf	protein_coding	MBP	HGNC	protein_coding	OTTHUMT00000267964.1	550	0.35	2	T	NM_001025081		74701940	74701940	-1	no_errors	ENST00000355994	ensembl	human	known	69_37n	missense	362	34.22	193	SNP	0.998	C
MBTPS2	51360	genome.wustl.edu	37	X	21900733	21900733	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:21900733C>T	ENST00000379484.5	+	11	1619	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	507					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CTTTTGGCTGCCAATGTGACC	0.443																																						dbGAP											0													191.0	170.0	177.0					X																	21900733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1520C>T	X.37:g.21900733C>T	ENSP00000368798:p.Ala507Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP	p.A507V	ENST00000379484.5	37	c.1520	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.131940	0.94473	.	.	ENSG00000012174	ENST00000379484	D	0.91792	-2.91	5.97	5.97	0.96955	Peptidase M50 (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60117	0.869	D	0.92685	0.6161	10	0.19590	T	0.45	-20.2615	19.3337	0.94306	0.0:1.0:0.0:0.0	.	507	O43462	MBTP2_HUMAN	V	507	ENSP00000368798:A507V	ENSP00000368798:A507V	A	+	2	0	MBTPS2	21810654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.378000	0.79679	2.519000	0.84933	0.538000	0.68166	GCC	MBTPS2	-	pfam_Peptidase_M50	ENSG00000012174		0.443	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	446	0.22	1	C			21900733	21900733	+1	no_errors	ENST00000379484	ensembl	human	known	69_37n	missense	365	36.90	214	SNP	1.000	T
MCHR2	84539	genome.wustl.edu	37	6	100403852	100403852	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:100403852T>C	ENST00000281806.2	-	2	486	c.172A>G	c.(172-174)Act>Gct	p.T58A	MCHR2_ENST00000369212.2_Missense_Mutation_p.T58A	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTATTATAGTGAATACAATG	0.408																																						dbGAP											0													75.0	70.0	72.0					6																	100403852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.172A>G	6.37:g.100403852T>C	ENSP00000281806:p.Thr58Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn,prints_MCH_rcpt	p.T58A	ENST00000281806.2	37	c.172	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648889	0.29336	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.19250	2.16;2.16;2.16	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.09774	0.0240	L	0.37750	1.13	0.31726	N	0.637627	B	0.32653	0.379	B	0.37091	0.241	T	0.10405	-1.0631	10	0.42905	T	0.14	.	12.6841	0.56938	0.0:0.0:0.0:1.0	.	58	Q969V1	MCHR2_HUMAN	A	58	ENSP00000403490:T58A;ENSP00000281806:T58A;ENSP00000358214:T58A	ENSP00000281806:T58A	T	-	1	0	MCHR2	100510573	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	4.974000	0.63771	1.931000	0.55961	0.459000	0.35465	ACT	MCHR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_MCH2_receptor,prints_7TM_GPCR_Rhodpsn	ENSG00000152034		0.408	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	89	0.00	0	T	NM_032503		100403852	100403852	-1	no_errors	ENST00000281806	ensembl	human	known	69_37n	missense	57	38.04	35	SNP	1.000	C
MCM8	84515	genome.wustl.edu	37	20	5953787	5953787	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:5953787A>T	ENST00000378896.3	+	12	1717	c.1340A>T	c.(1339-1341)gAc>gTc	p.D447V	MCM8_ENST00000378883.1_Intron|MCM8_ENST00000378886.2_Missense_Mutation_p.D487V|MCM8_ENST00000265187.4_Missense_Mutation_p.D431V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	447	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						ATTCGGGGAGACCCCCACATC	0.418																																						dbGAP											0													123.0	114.0	117.0					20																	5953787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1340A>T	20.37:g.5953787A>T	ENSP00000368174:p.Asp447Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.D487V	ENST00000378896.3	37	c.1460	CCDS13094.1	20	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994784	0.93167	.	.	ENSG00000125885	ENST00000378896;ENST00000378886;ENST00000265187	T;T;T	0.09538	2.97;2.97;2.97	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.51363	0.1670	H	0.97962	4.115	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.998	D;D;D	0.81914	0.995;0.981;0.989	T	0.70579	-0.4833	10	0.87932	D	0	-14.2195	16.8222	0.85835	1.0:0.0:0.0:0.0	.	487;431;447	E7EQU7;Q9UJA3-3;Q9UJA3	.;.;MCM8_HUMAN	V	447;487;431	ENSP00000368174:D447V;ENSP00000368164:D487V;ENSP00000265187:D431V	ENSP00000265187:D431V	D	+	2	0	MCM8	5901787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.317000	0.96327	2.371000	0.80710	0.533000	0.62120	GAC	MCM8	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	ENSG00000125885		0.418	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	357	0.00	0	A	NM_032485		5953787	5953787	+1	no_errors	ENST00000378886	ensembl	human	known	69_37n	missense	205	43.25	157	SNP	1.000	T
MCOLN2	255231	genome.wustl.edu	37	1	85403543	85403543	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:85403543C>T	ENST00000370608.3	-	11	1297	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.M382I	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	410					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTGAGGCCTGCATTGTTAAAA	0.408																																						dbGAP											0													90.0	83.0	85.0					1																	85403543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1230G>A	1.37:g.85403543C>T	ENSP00000359640:p.Met410Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.M410I	ENST00000370608.3	37	c.1230	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953233	0.73902	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.64618	-0.11;-0.11	6.07	6.07	0.98685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.64227	0.2579	L	0.42245	1.32	0.58432	D	0.999999	D	0.69078	0.997	P	0.62885	0.908	T	0.62558	-0.6829	10	0.44086	T	0.13	-37.5244	15.3713	0.74568	0.1394:0.8606:0.0:0.0	.	410	Q8IZK6	MCLN2_HUMAN	I	410;382	ENSP00000359640:M410I;ENSP00000284027:M382I	ENSP00000284027:M382I	M	-	3	0	MCOLN2	85176131	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.782000	0.68973	2.890000	0.99128	0.650000	0.86243	ATG	MCOLN2	-	pfam_PKD1_2_channel	ENSG00000153898		0.408	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	261	0.00	0	C	NM_153259		85403543	85403543	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	missense	159	36.65	92	SNP	1.000	T
MCOLN2	255231	genome.wustl.edu	37	1	85405343	85405343	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:85405343A>G	ENST00000370608.3	-	9	1070	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.C307R	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	335					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TCGGTGTCACACACAGGCCGC	0.428																																						dbGAP											0													85.0	82.0	83.0					1																	85405343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1003T>C	1.37:g.85405343A>G	ENSP00000359640:p.Cys335Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.C335R	ENST00000370608.3	37	c.1003	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660453	0.29515	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.78003	-1.14;-1.14	5.18	3.93	0.45458	.	0.348298	0.33895	N	0.004445	T	0.67998	0.2953	L	0.47716	1.5	0.58432	D	0.999999	P	0.50272	0.933	P	0.48030	0.564	T	0.73154	-0.4072	10	0.59425	D	0.04	-25.6843	12.0488	0.53495	0.8003:0.0:0.0:0.1997	.	335	Q8IZK6	MCLN2_HUMAN	R	335;307	ENSP00000359640:C335R;ENSP00000284027:C307R	ENSP00000284027:C307R	C	-	1	0	MCOLN2	85177931	1.000000	0.71417	0.939000	0.37840	0.587000	0.36485	5.858000	0.69532	1.955000	0.56771	0.460000	0.39030	TGT	MCOLN2	-	NULL	ENSG00000153898		0.428	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	200	0.00	0	A	NM_153259		85405343	85405343	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	missense	150	36.40	87	SNP	1.000	G
MDGA1	266727	genome.wustl.edu	37	6	37606043	37606043	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:37606043G>A	ENST00000434837.3	-	16	3892	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	MDGA1_ENST00000505425.1_Missense_Mutation_p.A905V|MDGA1_ENST00000297153.7_Missense_Mutation_p.A909V	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	905	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTCATCTATGGCAATATCCCC	0.567																																						dbGAP											0													94.0	92.0	92.0					6																	37606043		1920	4124	6044	-	-	-	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2714C>T	6.37:g.37606043G>A	ENSP00000402584:p.Ala905Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.A909V	ENST00000434837.3	37	c.2726	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.336532	0.95758	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.03272	3.99;3.99;3.99	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.48767	D	0.000162	T	0.23965	0.0580	H	0.97415	4	0.47659	D	0.999486	D;D	0.69078	0.99;0.997	P;D	0.80764	0.817;0.994	T	0.42241	-0.9463	10	0.87932	D	0	.	16.0973	0.81135	0.0:0.0:1.0:0.0	.	905;905	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	V	905;909;905	ENSP00000402584:A905V;ENSP00000297153:A909V;ENSP00000422042:A905V	ENSP00000297153:A909V	A	-	2	0	MDGA1	37714021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.569000	0.86673	0.655000	0.94253	GCC	MDGA1	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000112139		0.567	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	276	0.00	0	G			37606043	37606043	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	missense	173	35.69	96	SNP	1.000	A
MDGA1	266727	genome.wustl.edu	37	6	37626113	37626113	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:37626113C>T	ENST00000434837.3	-	3	1468	c.290G>A	c.(289-291)cGt>cAt	p.R97H	MDGA1_ENST00000505425.1_Missense_Mutation_p.R97H|MDGA1_ENST00000297153.7_Missense_Mutation_p.R97H	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	97	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCGTGCAATACGCTCGATGCG	0.652																																						dbGAP											0													62.0	72.0	69.0					6																	37626113		2121	4220	6341	-	-	-	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.290G>A	6.37:g.37626113C>T	ENSP00000402584:p.Arg97His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.R97H	ENST00000434837.3	37	c.290	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158922	0.78226	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437;ENST00000508399	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183948	0.26442	N	0.024347	T	0.11410	0.0278	L	0.31065	0.9	0.29310	N	0.868084	D	0.59767	0.986	B	0.42771	0.397	T	0.09100	-1.0690	10	0.62326	D	0.03	.	7.7431	0.28853	0.0:0.8183:0.0:0.1817	.	97	Q8NFP4	MDGA1_HUMAN	H	97;97;97;41;41	ENSP00000402584:R97H;ENSP00000297153:R97H;ENSP00000422042:R97H;ENSP00000421510:R41H;ENSP00000427645:R41H	ENSP00000297153:R97H	R	-	2	0	MDGA1	37734091	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.765000	0.26546	2.515000	0.84797	0.655000	0.94253	CGT	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000112139		0.652	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	57	0.00	0	C			37626113	37626113	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	missense	46	32.35	22	SNP	1.000	T
MDGA2	161357	genome.wustl.edu	37	14	47530771	47530771	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:47530771delT	ENST00000399232.2	-	7	1363	c.999delA	c.(997-999)aaafs	p.K333fs	MDGA2_ENST00000426342.1_Frame_Shift_Del_p.K104fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.K104fs|MDGA2_ENST00000439988.3_Frame_Shift_Del_p.K402fs	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	333					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAAATCGTCCTTTTTTTAATG	0.353																																						dbGAP											0													52.0	49.0	50.0					14																	47530771		1822	4084	5906	-	-	-	SO:0001589	frameshift_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.999delA	14.37:g.47530771delT	ENSP00000382178:p.Lys333fs	Somatic		WXS	Illumina GAIIx	Phase_IV	F6W3S7|J3KPX6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.G403fs	ENST00000399232.2	37	c.1206		14																																																																																			MDGA2	-	NULL	ENSG00000139915		0.353	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	116	0.00	0	T	NM_182830		47530771	47530771	-1	no_errors	ENST00000399232	ensembl	human	known	69_37n	frame_shift_del	99	40.59	69	DEL	1.000	-
MECOM	2122	genome.wustl.edu	37	3	169381319	169381319	+	5'UTR	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:169381319C>T	ENST00000485957.1	-	0	87				MECOM_ENST00000494292.1_5'Flank			Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus						regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						tctctctctccctccctcctg	0.507																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000485957.1:c.-808G>A	3.37:g.169381319C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13466|Q6FH90	RNA	SNP	-	NULL	ENST00000485957.1	37	NULL		3																																																																																			MECOM	-	-	ENSG00000085276		0.507	MECOM-001	KNOWN	basic	processed_transcript	MECOM	HGNC	protein_coding	OTTHUMT00000351514.2	97	0.00	0	C	NM_005241, NM_004991		169381319	169381319	-1	no_errors	ENST00000485957	ensembl	human	known	69_37n	rna	73	33.03	36	SNP	0.008	T
MEGF8	1954	genome.wustl.edu	37	19	42860340	42860340	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:42860340T>C	ENST00000251268.6	+	25	4498	c.4498T>C	c.(4498-4500)Tca>Cca	p.S1500P	MEGF8_ENST00000334370.4_Missense_Mutation_p.S1433P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1500					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGCCGCCTCTCAGCCGTGAG	0.662																																						dbGAP											0													21.0	20.0	21.0					19																	42860340		2190	4272	6462	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4498T>C	19.37:g.42860340T>C	ENSP00000251268:p.Ser1500Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.S1500P	ENST00000251268.6	37	c.4498		19	.	.	.	.	.	.	.	.	.	.	T	17.84	3.486807	0.63962	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22336	1.96;1.96	4.5	4.5	0.54988	.	0.209309	0.31949	N	0.006818	T	0.28699	0.0711	L	0.39898	1.24	0.80722	D	1	D;D	0.62365	0.976;0.991	P;P	0.61477	0.656;0.889	T	0.02307	-1.1179	10	0.23302	T	0.38	-8.1087	8.8893	0.35423	0.1673:0.0:0.0:0.8327	.	1500;1433	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	P	1433;1500	ENSP00000334219:S1433P;ENSP00000251268:S1500P	ENSP00000251268:S1500P	S	+	1	0	MEGF8	47552180	0.938000	0.31826	1.000000	0.80357	0.972000	0.66771	1.573000	0.36472	1.904000	0.55121	0.460000	0.39030	TCA	MEGF8	-	NULL	ENSG00000105429		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	75	0.00	0	T	NM_001410		42860340	42860340	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	51	30.14	22	SNP	0.964	C
MEN1	4221	genome.wustl.edu	37	11	64573679	64573679	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:64573679C>T	ENST00000337652.1	-	7	1568				MEN1_ENST00000312049.6_Intron|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000394376.1_Intron|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Intron|MEN1_ENST00000377313.1_Intron|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000377321.1_Intron|MEN1_ENST00000443283.1_Intron|MEN1_ENST00000315422.4_Intron|MEN1_ENST00000377326.3_Intron|MAP4K2_ENST00000377350.3_5'Flank	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGACAGGCTGCAGGCCCTAGT	0.637			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	dbGAP	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0													94.0	88.0	90.0					11																	64573679		2201	4297	6498	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1064+24G>A	11.37:g.64573679C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	RNA	SNP	-	NULL	ENST00000337652.1	37	NULL	CCDS8083.1	11																																																																																			MEN1	-	-	ENSG00000133895		0.637	MEN1-201	KNOWN	basic|CCDS	protein_coding	MEN1	HGNC	protein_coding	OTTHUMT00000143881.1	144	0.00	0	C			64573679	64573679	-1	no_errors	ENST00000478548	ensembl	human	known	69_37n	rna	83	42.86	63	SNP	0.000	T
MEOX2	4223	genome.wustl.edu	37	7	15652091	15652091	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:15652091G>A	ENST00000262041.5	-	3	1245	c.836C>T	c.(835-837)aCc>aTc	p.T279I		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	279					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTGCTGGAGGGTGGCTGCACC	0.522																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	dbGAP											0													167.0	157.0	160.0					7																	15652091		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.836C>T	7.37:g.15652091G>A	ENSP00000262041:p.Thr279Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.T279I	ENST00000262041.5	37	c.836	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383905	0.25031	.	.	ENSG00000106511	ENST00000262041	D	0.89485	-2.52	5.51	4.61	0.57282	.	0.489678	0.23738	N	0.045059	T	0.77685	0.4167	N	0.08118	0	0.27729	N	0.944854	B	0.18166	0.026	B	0.18263	0.021	T	0.68183	-0.5476	10	0.37606	T	0.19	-7.342	12.7337	0.57212	0.0:0.4079:0.5921:0.0	.	279	P50222	MEOX2_HUMAN	I	279	ENSP00000262041:T279I	ENSP00000262041:T279I	T	-	2	0	MEOX2	15618616	0.997000	0.39634	1.000000	0.80357	0.514000	0.34195	4.483000	0.60264	2.595000	0.87683	0.563000	0.77884	ACC	MEOX2	-	NULL	ENSG00000106511		0.522	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	319	0.31	1	G	NM_005924		15652091	15652091	-1	no_errors	ENST00000262041	ensembl	human	known	69_37n	missense	203	41.33	143	SNP	0.993	A
MFI2	4241	genome.wustl.edu	37	3	196735739	196735739	+	Silent	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:196735739G>C	ENST00000296350.5	-	12	1736	c.1623C>G	c.(1621-1623)ggC>ggG	p.G541G		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	541	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACTTGTTGCGGCCCTGCTCGT	0.642																																						dbGAP											0													111.0	100.0	104.0					3																	196735739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1623C>G	3.37:g.196735739G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQE2	Silent	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.G541	ENST00000296350.5	37	c.1623	CCDS3325.1	3																																																																																			MFI2	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin	ENSG00000163975		0.642	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	236	0.00	0	G			196735739	196735739	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	silent	147	35.65	82	SNP	0.998	C
MGAT5B	146664	genome.wustl.edu	37	17	74943951	74943951	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:74943951C>T	ENST00000569840.2	+	17	2537	c.1963C>T	c.(1963-1965)Cac>Tac	p.H655Y	MGAT5B_ENST00000301618.4_Missense_Mutation_p.H653Y|RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.H664Y	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	655					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCAGAGGCCCACGCCCCGCA	0.687																																						dbGAP											0													38.0	37.0	37.0					17																	74943951		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1963C>T	17.37:g.74943951C>T	ENSP00000456037:p.His655Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.H664Y	ENST00000569840.2	37	c.1990	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204303	0.22205	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42513	0.97;0.97	4.66	3.66	0.41972	.	1.234280	0.05880	N	0.626234	T	0.23688	0.0573	N	0.08118	0	0.21325	N	0.999721	P;B;B	0.41041	0.736;0.02;0.002	B;B;B	0.31686	0.134;0.014;0.009	T	0.18999	-1.0319	10	0.28530	T	0.3	-4.1783	12.7461	0.57281	0.171:0.829:0.0:0.0	.	60;664;653	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	Y	653;664	ENSP00000301618:H653Y;ENSP00000391227:H664Y	ENSP00000301618:H653Y	H	+	1	0	MGAT5B	72455546	0.000000	0.05858	0.233000	0.24025	0.051000	0.14879	0.377000	0.20552	0.885000	0.36088	0.557000	0.71058	CAC	MGAT5B	-	NULL	ENSG00000167889		0.687	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	97	0.00	0	C	NM_144677		74943951	74943951	+1	no_errors	ENST00000428789	ensembl	human	known	69_37n	missense	173	16.43	34	SNP	0.519	T
MIA3	375056	genome.wustl.edu	37	1	222833273	222833273	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:222833273G>A	ENST00000344922.5	+	23	4925	c.4900G>A	c.(4900-4902)Gca>Aca	p.A1634T	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.A512T|MIA3_ENST00000344441.6_Missense_Mutation_p.A1634T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1634					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACAAAAGATGGCAATGCTGCA	0.368																																						dbGAP											0													67.0	62.0	63.0					1																	222833273		1817	4079	5896	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4900G>A	1.37:g.222833273G>A	ENSP00000340900:p.Ala1634Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.A1634T	ENST00000344922.5	37	c.4900	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275667	0.80580	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.29655	1.56;1.56;1.56	6.08	6.08	0.98989	.	.	.	.	.	T	0.47600	0.1454	M	0.69823	2.125	0.34174	D	0.670103	D;D	0.63046	0.992;0.991	P;P	0.59171	0.853;0.802	T	0.52268	-0.8598	9	0.15499	T	0.54	.	14.229	0.65879	0.0762:0.0:0.9238:0.0	.	512;1634	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1634;1634;1575;512;512	ENSP00000340900:A1634T;ENSP00000340587:A1634T;ENSP00000345866:A512T	ENSP00000284471:A512T	A	+	1	0	MIA3	220899896	0.990000	0.36364	1.000000	0.80357	0.878000	0.50629	1.254000	0.32897	2.890000	0.99128	0.655000	0.94253	GCA	MIA3	-	NULL	ENSG00000154305		0.368	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	241	0.00	0	G	NM_198551		222833273	222833273	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	431	18.18	96	SNP	1.000	A
MICALL2	79778	genome.wustl.edu	37	7	1484421	1484422	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:1484421_1484422insG	ENST00000297508.7	-	6	1459_1460	c.1284_1285insC	c.(1282-1287)cccggcfs	p.G429fs	MICALL2_ENST00000405088.4_Frame_Shift_Ins_p.G217fs	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	429	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGTGCCGGGGGGCACTG	0.634																																						dbGAP											0										0,4212		0,0,2106						-8.3	0.0			6	2,8206		0,2,4102	no	frameshift	MICALL2	NM_182924.3		0,2,6208	A1A1,A1R,RR		0.0244,0.0,0.0161				2,12418				-	-	-	SO:0001589	frameshift_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1285dupC	7.37:g.1484427_1484427dupG	ENSP00000297508:p.Gly429fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Frame_Shift_Ins	INS	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.G428fs	ENST00000297508.7	37	c.1285_1284	CCDS5324.1	7																																																																																			MICALL2	-	NULL	ENSG00000164877		0.634	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	23	0.00	0	-	NM_182924		1484421	1484422	-1	no_errors	ENST00000297508	ensembl	human	known	69_37n	frame_shift_ins	19	29.63	8	INS	0.001:0.095	G
MIF4GD	57409	genome.wustl.edu	37	17	73262964	73262964	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:73262964G>A	ENST00000325102.8	-	6	650	c.526C>T	c.(526-528)Ctg>Ttg	p.L176L	MIF4GD_ENST00000245551.5_Silent_p.L210L|MIF4GD_ENST00000579297.1_Silent_p.L217L|MIF4GD_ENST00000580571.1_Silent_p.L124L|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000577542.1_Silent_p.L217L|MIF4GD_ENST00000579119.1_Silent_p.L205L	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	176	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCCCGGATCAGCACAAAGAGC	0.612																																						dbGAP											0													88.0	77.0	81.0					17																	73262964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.526C>T	17.37:g.73262964G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUM7|Q8N4Q5|Q9HBL5	Silent	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold	p.L217	ENST00000325102.8	37	c.649	CCDS56044.1	17																																																																																			MIF4GD	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold	ENSG00000125457		0.612	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIF4GD	HGNC	protein_coding	OTTHUMT00000446671.1	105	0.93	1	G	NM_020679		73262964	73262964	-1	no_errors	ENST00000577542	ensembl	human	known	69_37n	silent	222	15.53	41	SNP	0.996	A
NANOS3	342977	genome.wustl.edu	37	19	13985691	13985691	+	5'Flank	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:13985691delC	ENST00000397555.2	+	0	0				MIR181C_ENST00000384881.1_RNA|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_5'Flank|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)						germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CTGGGCACGTCCCCTCCCCTA	0.617																																						dbGAP											0													54.0	56.0	56.0					19																	13985691		1568	3582	5150	-	-	-	SO:0001631	upstream_gene_variant	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323			19.37:g.13985691delC	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495E5	RNA	DEL	-	NULL	ENST00000397555.2	37	NULL		19																																																																																			MIR181D	-	-	ENSG00000207585		0.617	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	MIR181D	HGNC	protein_coding		101	0.00	0	C	XM_292819		13985691	13985691	+1	no_errors	ENST00000384853	ensembl	human	known	69_37n	rna	25	66.27	55	DEL	0.000	-
STXBP1	6812	genome.wustl.edu	37	9	130453049	130453049	+	Intron	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:130453049T>G	ENST00000373299.1	+	19	1817				STXBP1_ENST00000373302.3_Intron|STXBP1_ENST00000481942.1_Intron|MIR3911_ENST00000577791.1_RNA	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1						axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CTCTGCCTCCTCCAGGATCCA	0.493																																						dbGAP											0													188.0	196.0	193.0					9																	130453049		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1703-5T>G	9.37:g.130453049T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	RNA	SNP	-	NULL	ENST00000373299.1	37	NULL	CCDS35146.1	9																																																																																			MIR3911	-	-	ENSG00000264329		0.493	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3911	HGNC	protein_coding	OTTHUMT00000054229.1	258	0.00	0	T	NM_003165		130453049	130453049	-1	no_errors	ENST00000577791	ensembl	human	known	69_37n	rna	179	33.82	92	SNP	0.884	G
MIR518F	574472	genome.wustl.edu	37	19	54200830	54200830	+	RNA	DEL	A	A	-	rs80268200		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:54200830delA	ENST00000384973.1	+	0	0				MIR525_ENST00000384978.1_RNA|MIR519B_ENST00000385090.1_RNA|MIR523_ENST00000385281.1_RNA	NR_030194.1				microRNA 518f																		CTCTTATGTGAAAAAAAAGAA	0.423																																						dbGAP											0													80.0	78.0	79.0					19																	54200830		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54200830delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000384973.1	37	NULL		19																																																																																			MIR525	-	-	ENSG00000207711		0.423	MIR518F-201	KNOWN	basic	miRNA	MIR525	HGNC	miRNA		426	0.00	0	A	NR_030194		54200830	54200830	+1	no_errors	ENST00000384978	ensembl	human	known	69_37n	rna	251	31.45	117	DEL	0.007	-
MKS1	54903	genome.wustl.edu	37	17	56284466	56284466	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:56284466G>A	ENST00000393119.2	-	15	1461	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	MKS1_ENST00000546108.1_Missense_Mutation_p.R260W|MKS1_ENST00000537529.2_Missense_Mutation_p.R453W|MKS1_ENST00000337050.7_Missense_Mutation_p.R463W|MKS1_ENST00000313863.6_Intron	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	463					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTGGTATCCGTACATAGGAG	0.527																																						dbGAP											0													103.0	105.0	105.0					17																	56284466		1937	4149	6086	-	-	-	SO:0001583	missense	0			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1387C>T	17.37:g.56284466G>A	ENSP00000376827:p.Arg463Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.R463W	ENST00000393119.2	37	c.1387	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321328	0.41096	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.24	2.1	0.27182	.	0.092420	0.64402	N	0.000001	T	0.63260	0.2496	M	0.72118	2.19	0.53005	D	0.999964	B	0.19935	0.04	B	0.09377	0.004	T	0.57533	-0.7795	10	0.59425	D	0.04	-32.4218	4.742	0.13017	0.1666:0.0:0.4112:0.4222	.	463	Q9NXB0	MKS1_HUMAN	W	453;463;463;463;260	ENSP00000442096:R453W;ENSP00000376827:R463W;ENSP00000338407:R463W;ENSP00000443012:R260W	ENSP00000338407:R463W	R	-	1	2	MKS1	53639465	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	0.600000	0.24104	0.188000	0.20168	0.455000	0.32223	CGG	MKS1	-	pfam_B9_dom	ENSG00000011143		0.527	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	119	0.00	0	G	NM_017777		56284466	56284466	-1	no_errors	ENST00000393119	ensembl	human	known	69_37n	missense	232	13.38	36	SNP	1.000	A
MLF1	4291	genome.wustl.edu	37	3	158315964	158315964	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:158315964G>T	ENST00000355893.5	+	4	513	c.375G>T	c.(373-375)caG>caT	p.Q125H	MLF1_ENST00000359117.5_Missense_Mutation_p.Q100H|MLF1_ENST00000392822.3_Missense_Mutation_p.Q156H|MLF1_ENST00000482628.1_Missense_Mutation_p.Q100H|MLF1_ENST00000478894.2_Missense_Mutation_p.Q115H|MLF1_ENST00000471745.1_Missense_Mutation_p.Q115H|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Missense_Mutation_p.Q100H|MLF1_ENST00000469452.1_Intron	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	125	Interaction with COPS3.				cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AGGTTTTTCAGGCCTCAACTC	0.388			T	NPM1	AML																																	dbGAP		Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0													70.0	71.0	71.0					3																	158315964		2203	4300	6503	-	-	-	SO:0001583	missense	0			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.375G>T	3.37:g.158315964G>T	ENSP00000348157:p.Gln125His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.Q156H	ENST00000355893.5	37	c.468	CCDS3182.1	3	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815216	0.70912	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000477042;ENST00000471745;ENST00000482628;ENST00000478894;ENST00000392822;ENST00000466246	T;T;T;T;T;T;T;T;T	0.56611	0.52;0.46;0.5;0.5;0.53;0.46;0.5;0.46;0.45	5.44	4.45	0.53987	.	0.067945	0.64402	D	0.000012	T	0.69324	0.3098	M	0.82193	2.58	0.41428	D	0.987843	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71507	-0.4572	10	0.52906	T	0.07	-13.542	6.3185	0.21204	0.2642:0.0:0.7358:0.0	.	156;125	Q8N8F8;P58340	.;MLF1_HUMAN	H	51;125;100;100;80;115;115;100;115;156;140	ENSP00000420410:Q51H;ENSP00000348157:Q125H;ENSP00000417835:Q100H;ENSP00000352025:Q100H;ENSP00000419636:Q80H;ENSP00000420134:Q115H;ENSP00000417141:Q100H;ENSP00000417777:Q115H;ENSP00000376568:Q156H	ENSP00000348157:Q125H	Q	+	3	2	MLF1	159798658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.033000	0.30191	2.561000	0.86390	0.563000	0.77884	CAG	MLF1	-	pfam_Myeloid_leukemia_factor	ENSG00000178053		0.388	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	159	0.00	0	G	NM_022443		158315964	158315964	+1	no_errors	ENST00000392822	ensembl	human	known	69_37n	missense	134	33.33	67	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49435219	49435219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:49435219delC	ENST00000301067.7	-	31	6333	c.6334delG	c.(6334-6336)gcafs	p.A2112fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2112	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCCCAGTGCCCCTGGCTGC	0.662																																						dbGAP											0													25.0	29.0	28.0					12																	49435219		1931	4110	6041	-	-	-	SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6334delG	12.37:g.49435219delC	ENSP00000301067:p.Ala2112fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A2112fs	ENST00000301067.7	37	c.6334	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.662	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	20	0.00	0	C			49435219	49435219	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	frame_shift_del	12	43.48	10	DEL	1.000	-
KMT2D	8085	genome.wustl.edu	37	12	49446809	49446809	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:49446809T>A	ENST00000301067.7	-	8	1000	c.1001A>T	c.(1000-1002)aAt>aTt	p.N334I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	334					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGAGTTGGGATTCAGTTCTGC	0.587																																						dbGAP											0													81.0	83.0	82.0					12																	49446809		1983	4168	6151	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1001A>T	12.37:g.49446809T>A	ENSP00000301067:p.Asn334Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.N334I	ENST00000301067.7	37	c.1001	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393776	0.25205	.	.	ENSG00000167548	ENST00000301067	T	0.79554	-1.28	5.54	0.321	0.15883	.	0.660824	0.12552	N	0.458979	T	0.56572	0.1994	N	0.08118	0	0.23376	N	0.997807	B	0.06786	0.001	B	0.04013	0.001	T	0.48570	-0.9024	10	0.87932	D	0	.	1.0084	0.01492	0.1528:0.1825:0.1587:0.506	.	334	O14686	MLL2_HUMAN	I	334	ENSP00000301067:N334I	ENSP00000301067:N334I	N	-	2	0	MLL2	47733076	0.644000	0.27277	0.991000	0.47740	0.865000	0.49528	-0.021000	0.12504	0.029000	0.15352	0.459000	0.35465	AAT	MLL2	-	NULL	ENSG00000167548		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	75	0.00	0	T			49446809	49446809	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	51	37.04	30	SNP	0.928	A
KMT2B	9757	genome.wustl.edu	37	19	36210803	36210803	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:36210803G>A	ENST00000222270.7	+	3	554	c.554G>A	c.(553-555)gGc>gAc	p.G185D	KMT2B_ENST00000341701.1_Missense_Mutation_p.G185D|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.G185D	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	185					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTGAGGAAGGCACAGAACGG	0.682																																						dbGAP											0													41.0	49.0	46.0					19																	36210803		1989	4146	6135	-	-	-	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.554G>A	19.37:g.36210803G>A	ENSP00000222270:p.Gly185Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.G185D	ENST00000222270.7	37	c.554	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965381	0.74131	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.84589	-1.87;-1.87;0.67	5.59	5.59	0.84812	.	0.000000	0.42682	D	0.000675	D	0.85137	0.5628	N	0.14661	0.345	0.40705	D	0.982517	D	0.89917	1.0	D	0.87578	0.998	D	0.84098	0.0394	10	0.27082	T	0.32	.	15.0853	0.72148	0.0:0.0:1.0:0.0	.	185	Q9UMN6	MLL4_HUMAN	D	185	ENSP00000222270:G185D;ENSP00000398837:G185D;ENSP00000345761:G185D	ENSP00000222270:G185D	G	+	2	0	AD000671.1	40902643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.256000	0.51492	2.632000	0.89209	0.561000	0.74099	GGC	MLL4	-	pirsf_MeTrfase_trithorax	ENSG00000105663		0.682	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		34	0.00	0	G	NM_014727		36210803	36210803	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	missense	24	38.46	15	SNP	1.000	A
KMT2E	55904	genome.wustl.edu	37	7	104730706	104730706	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:104730706G>A	ENST00000311117.3	+	14	2154	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	KMT2E_ENST00000476671.1_Missense_Mutation_p.V537I|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.V537I|KMT2E_ENST00000334877.4_Missense_Mutation_p.V537I	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	537					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAGACTATCAGTATCAAATAA	0.318																																						dbGAP											0													52.0	55.0	54.0					7																	104730706		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1609G>A	7.37:g.104730706G>A	ENSP00000312379:p.Val537Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.V537I	ENST00000311117.3	37	c.1609	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529082	0.44969	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000257745;ENST00000476671	D;D;D;D	0.93307	-2.77;-2.49;-2.77;-3.2	5.83	4.85	0.62838	.	0.172011	0.48767	D	0.000173	T	0.79707	0.4492	N	0.03154	-0.405	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.72246	-0.4349	10	0.20046	T	0.44	.	3.8392	0.08906	0.3238:0.0:0.6762:0.0	.	537;537	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	I	537	ENSP00000312379:V537I;ENSP00000335599:V537I;ENSP00000257745:V537I;ENSP00000417888:V537I	ENSP00000257745:V537I	V	+	1	0	MLL5	104517942	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.336000	0.79245	2.770000	0.95276	0.655000	0.94253	GTA	MLL5	-	NULL	ENSG00000005483		0.318	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	134	0.74	1	G			104730706	104730706	+1	no_errors	ENST00000257745	ensembl	human	known	69_37n	missense	87	40.00	58	SNP	1.000	A
MLPH	79083	genome.wustl.edu	37	2	238419703	238419703	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:238419703C>T	ENST00000264605.3	+	4	698	c.404C>T	c.(403-405)gCc>gTc	p.A135V	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Missense_Mutation_p.A135V|MLPH_ENST00000410032.1_Missense_Mutation_p.A135V|MLPH_ENST00000409373.1_Missense_Mutation_p.A135V|MLPH_ENST00000445024.2_Missense_Mutation_p.A135V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	135					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TTCGGAAGTGCCAAGGTCATC	0.542																																						dbGAP											0													191.0	189.0	190.0					2																	238419703		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.404C>T	2.37:g.238419703C>T	ENSP00000264605:p.Ala135Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.A135V	ENST00000264605.3	37	c.404	CCDS2518.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998043	0.93227	.	.	ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T	0.32515	1.45;1.71;1.7;1.58;1.46	5.13	4.22	0.49857	Zinc finger, RING/FYVE/PHD-type (1);	0.062767	0.64402	D	0.000006	T	0.60560	0.2278	M	0.88105	2.93	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.962;0.988;0.998;0.995;0.979;0.985	T	0.68066	-0.5507	9	.	.	.	-24.8664	14.0712	0.64861	0.1509:0.8491:0.0:0.0	.	135;135;135;135;135;135	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	V	135	ENSP00000386338:A135V;ENSP00000264605:A135V;ENSP00000414849:A135V;ENSP00000341845:A135V;ENSP00000386780:A135V	.	A	+	2	0	MLPH	238084442	1.000000	0.71417	0.983000	0.44433	0.853000	0.48598	4.316000	0.59178	2.385000	0.81259	0.563000	0.77884	GCC	MLPH	-	NULL	ENSG00000115648		0.542	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	184	0.00	0	C	NM_024101		238419703	238419703	+1	no_errors	ENST00000264605	ensembl	human	known	69_37n	missense	121	36.46	70	SNP	1.000	T
MLPH	79083	genome.wustl.edu	37	2	238436066	238436066	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:238436066C>T	ENST00000264605.3	+	8	1221	c.927C>T	c.(925-927)gcC>gcT	p.A309A	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000338530.4_Silent_p.A309A|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000409373.1_Silent_p.A269A|MLPH_ENST00000445024.2_Silent_p.A309A	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	309					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGTACTTGGCCGATGTGGACA	0.552																																						dbGAP											0													97.0	101.0	100.0					2																	238436066		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.927C>T	2.37:g.238436066C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	NULL	p.P58L	ENST00000264605.3	37	c.173	CCDS2518.1	2	.	.	.	.	.	.	.	.	.	.	C	8.387	0.838945	0.16891	.	.	ENSG00000115648	ENST00000436965	.	.	.	4.71	-2.41	0.06562	.	.	.	.	.	T	0.54062	0.1835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	-23.2502	9.3418	0.38085	0.0:0.2454:0.0:0.7546	.	.	.	.	L	58	.	.	P	+	2	0	MLPH	238100805	0.010000	0.17322	0.967000	0.41034	0.554000	0.35429	-1.752000	0.01819	-0.309000	0.08779	-0.254000	0.11334	CCG	MLPH	-	NULL	ENSG00000115648		0.552	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	146	0.00	0	C	NM_024101		238436066	238436066	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000436965	ensembl	human	novel	69_37n	missense	113	31.10	51	SNP	0.982	T
MMP17	4326	genome.wustl.edu	37	12	132325242	132325242	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:132325242G>A	ENST00000360564.1	+	4	649	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	MMP17_ENST00000535291.1_Missense_Mutation_p.A99T	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	183					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	GGGCAGCGCCGCCGACATCCA	0.667																																						dbGAP											0													89.0	77.0	81.0					12																	132325242		2203	4299	6502	-	-	-	SO:0001583	missense	0			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.547G>A	12.37:g.132325242G>A	ENSP00000353767:p.Ala183Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14850	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.A183T	ENST00000360564.1	37	c.547	CCDS31927.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633102	0.87660	.	.	ENSG00000198598	ENST00000360564;ENST00000545671;ENST00000545790;ENST00000535291;ENST00000534865	T;T;T;T;T	0.27890	1.64;1.64;2.18;1.64;1.64	4.65	4.65	0.58169	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.128329	0.51477	D	0.000093	T	0.60064	0.2240	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.67848	-0.5564	10	0.66056	D	0.02	.	17.7058	0.88309	0.0:0.0:1.0:0.0	.	183	Q9ULZ9	MMP17_HUMAN	T	183;79;99;99;24	ENSP00000353767:A183T;ENSP00000444603:A79T;ENSP00000441710:A99T;ENSP00000441106:A99T;ENSP00000442104:A24T	ENSP00000353767:A183T	A	+	1	0	MMP17	130891195	1.000000	0.71417	0.855000	0.33649	0.419000	0.31324	9.492000	0.97957	2.417000	0.82017	0.491000	0.48974	GCC	MMP17	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	ENSG00000198598		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	HGNC	protein_coding	OTTHUMT00000397757.1	21	0.00	0	G	NM_016155		132325242	132325242	+1	no_errors	ENST00000360564	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	1.000	A
MMP24	10893	genome.wustl.edu	37	20	33839815	33839815	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:33839815T>A	ENST00000246186.6	+	3	588	c.503T>A	c.(502-504)aTc>aAc	p.I168N	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	168					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CAAAAACACATCACCTACAGG	0.542																																						dbGAP											0													132.0	141.0	138.0					20																	33839815		2054	4183	6237	-	-	-	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.503T>A	20.37:g.33839815T>A	ENSP00000246186:p.Ile168Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.I168N	ENST00000246186.6	37	c.503	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491795	0.84962	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.25085	1.82	5.04	5.04	0.67666	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.75088	-0.3441	10	0.87932	D	0	.	14.0977	0.65034	0.0:0.0:0.0:1.0	.	168	Q9Y5R2	MMP24_HUMAN	N	168;116	ENSP00000246186:I168N	ENSP00000246186:I168N	I	+	2	0	MMP24	33303231	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.831000	0.86748	2.108000	0.64289	0.533000	0.62120	ATC	MMP24	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000125966		0.542	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	186	0.00	0	T	NM_006690		33839815	33839815	+1	no_errors	ENST00000246186	ensembl	human	known	69_37n	missense	141	35.75	79	SNP	1.000	A
MMP24	10893	genome.wustl.edu	37	20	33862164	33862164	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:33862164C>T	ENST00000246186.6	+	9	1775	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	564			R -> H (in dbSNP:rs751887).		cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CAACATCCTGCGTGACTGGAT	0.577																																						dbGAP											0													99.0	112.0	108.0					20																	33862164		2109	4211	6320	-	-	-	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1690C>T	20.37:g.33862164C>T	ENSP00000246186:p.Arg564Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.R564C	ENST00000246186.6	37	c.1690	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394585	0.62066	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.02606	4.23	4.97	1.57	0.23409	Hemopexin/matrixin (2);	0.274240	0.31381	N	0.007749	T	0.12092	0.0294	M	0.87682	2.9	0.27238	N	0.959218	D	0.71674	0.998	P	0.57152	0.814	T	0.02829	-1.1105	10	0.87932	D	0	.	12.1547	0.54070	0.5429:0.4571:0.0:0.0	.	564	Q9Y5R2	MMP24_HUMAN	C	564;512	ENSP00000246186:R564C	ENSP00000246186:R564C	R	+	1	0	MMP24	33325578	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.796000	0.47869	1.080000	0.41073	0.563000	0.77884	CGT	MMP24	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000125966		0.577	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	172	0.00	0	C	NM_006690		33862164	33862164	+1	no_errors	ENST00000246186	ensembl	human	known	69_37n	missense	114	37.36	68	SNP	0.357	T
MMRN1	22915	genome.wustl.edu	37	4	90844346	90844346	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:90844346C>T	ENST00000394980.1	+	5	1197	c.878C>T	c.(877-879)aCc>aTc	p.T293I	MMRN1_ENST00000394981.1_Missense_Mutation_p.T259I|MMRN1_ENST00000264790.2_Missense_Mutation_p.T293I|MMRN1_ENST00000508372.1_Missense_Mutation_p.T35I			Q13201	MMRN1_HUMAN	multimerin 1	293					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTGATACACACCAACCAGGCT	0.473																																						dbGAP											0													173.0	167.0	169.0					4																	90844346		2203	4300	6503	-	-	-	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.878C>T	4.37:g.90844346C>T	ENSP00000378431:p.Thr293Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q	p.T293I	ENST00000394980.1	37	c.878	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689353	0.29962	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	T;T;T;T	0.70986	0.12;0.12;-0.53;-0.29	5.45	2.79	0.32731	.	0.259259	0.39544	N	0.001333	T	0.43656	0.1257	N	0.08118	0	0.25964	N	0.982584	P;P	0.37864	0.61;0.475	B;B	0.32864	0.154;0.073	T	0.32561	-0.9902	10	0.40728	T	0.16	.	7.1599	0.25659	0.1566:0.3061:0.5373:0.0	.	259;293	Q13201-2;Q13201	.;MMRN1_HUMAN	I	293;293;259;35	ENSP00000378431:T293I;ENSP00000264790:T293I;ENSP00000378432:T259I;ENSP00000426461:T35I	ENSP00000264790:T293I	T	+	2	0	MMRN1	91063369	1.000000	0.71417	0.862000	0.33874	0.756000	0.42949	1.026000	0.30103	0.485000	0.27652	0.655000	0.94253	ACC	MMRN1	-	NULL	ENSG00000138722		0.473	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	247	0.00	0	C	NM_007351		90844346	90844346	+1	no_errors	ENST00000264790	ensembl	human	known	69_37n	missense	210	34.38	110	SNP	0.962	T
MNX1	3110	genome.wustl.edu	37	7	156799232	156799232	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:156799232A>G	ENST00000252971.6	-	2	1093	c.793T>C	c.(793-795)Tac>Cac	p.Y265H	MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.Y53H|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	265					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCGACAGGTACTTGTTGAGC	0.701																																						dbGAP											0													44.0	43.0	43.0					7																	156799232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.793T>C	7.37:g.156799232A>G	ENSP00000252971:p.Tyr265His	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H401|Q9Y648	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.Y265H	ENST00000252971.6	37	c.793	CCDS34788.1	7	.	.	.	.	.	.	.	.	.	.	A	26.2	4.712709	0.89112	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972;ENST00000428439	D;D;D	0.97328	-4.34;-4.34;-4.34	3.96	3.96	0.45880	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.210963	0.23523	U	0.047279	D	0.98523	0.9507	M	0.90814	3.15	0.47511	D	0.999444	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99470	1.0945	10	0.87932	D	0	-20.3364	13.1626	0.59552	1.0:0.0:0.0:0.0	.	101;265;53	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	H	265;53;95;53	ENSP00000252971:Y265H;ENSP00000438552:Y53H;ENSP00000401158:Y53H	ENSP00000252971:Y265H	Y	-	1	0	MNX1	156491993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.806000	0.91930	1.565000	0.49641	0.454000	0.30748	TAC	MNX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	ENSG00000130675		0.701	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNX1	HGNC	protein_coding	OTTHUMT00000347796.3	52	0.00	0	A			156799232	156799232	-1	no_errors	ENST00000252971	ensembl	human	known	69_37n	missense	24	50.00	24	SNP	1.000	G
MOAP1	64112	genome.wustl.edu	37	14	93649593	93649593	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:93649593T>C	ENST00000556883.1	-	2	1479	c.995A>G	c.(994-996)tAt>tGt	p.Y332C	TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.Y332C|RP11-371E8.4_ENST00000557574.1_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	332					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		agctgcctcataatcctttat	0.493																																						dbGAP											0													93.0	89.0	90.0					14																	93649593		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.995A>G	14.37:g.93649593T>C	ENSP00000451594:p.Tyr332Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	NULL	p.Y332C	ENST00000556883.1	37	c.995	CCDS9908.1	14	.	.	.	.	.	.	.	.	.	.	T	5.546	0.285548	0.10513	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.08193	3.12;3.12	3.36	-1.99	0.07457	.	.	.	.	.	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	P	0.39624	0.681	B	0.38020	0.263	T	0.30446	-0.9978	9	0.66056	D	0.02	0.5292	0.338	0.00329	0.1875:0.227:0.1934:0.3922	.	332	Q96BY2	MOAP1_HUMAN	C	332	ENSP00000298894:Y332C;ENSP00000451594:Y332C	ENSP00000298894:Y332C	Y	-	2	0	MOAP1	92719346	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	0.636000	0.24644	-0.385000	0.07833	-1.158000	0.01797	TAT	MOAP1	-	NULL	ENSG00000165943		0.493	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	229	0.00	0	T			93649593	93649593	-1	no_errors	ENST00000298894	ensembl	human	known	69_37n	missense	145	37.77	88	SNP	0.000	C
MORN1	79906	genome.wustl.edu	37	1	2303937	2303937	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:2303937T>C	ENST00000378531.3	-	8	901	c.728A>G	c.(727-729)cAc>cGc	p.H243R	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.H243R|RP4-740C4.9_ENST00000606642.1_RNA	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	243										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AATTTCCCCGTGGTCCTGCAG	0.542																																						dbGAP											0													110.0	94.0	99.0					1																	2303937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.728A>G	1.37:g.2303937T>C	ENSP00000367792:p.His243Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.H243R	ENST00000378531.3	37	c.728	CCDS40.1	1	.	.	.	.	.	.	.	.	.	.	T	9.929	1.214332	0.22289	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000419785;ENST00000378527	T;T	0.50277	1.0;0.75	4.87	-1.91	0.07641	.	2.467340	0.01631	N	0.023529	T	0.30355	0.0762	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.15870	0.014;0.004	T	0.35624	-0.9781	10	0.62326	D	0.03	.	9.2295	0.37428	0.0:0.4878:0.0:0.5122	.	243;243	Q5T089-2;Q5T089	.;MORN1_HUMAN	R	243;243;112;112	ENSP00000367792:H243R;ENSP00000367790:H243R	ENSP00000367788:H112R	H	-	2	0	MORN1	2293797	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.525000	0.06214	-0.530000	0.06349	-0.375000	0.07067	CAC	MORN1	-	NULL	ENSG00000116151		0.542	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	115	0.00	0	T	NM_024848		2303937	2303937	-1	no_errors	ENST00000378531	ensembl	human	known	69_37n	missense	80	29.57	34	SNP	0.000	C
MPEG1	219972	genome.wustl.edu	37	11	58979700	58979700	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:58979700A>G	ENST00000361050.3	-	1	724	c.639T>C	c.(637-639)gcT>gcC	p.A213A	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	213	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAATAAGAGCAGCCCCAGCGT	0.582																																						dbGAP											0													63.0	62.0	63.0					11																	58979700		1972	4130	6102	-	-	-	SO:0001819	synonymous_variant	0			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.639T>C	11.37:g.58979700A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M1T6|Q8TEF8	Silent	SNP	pfam_MACPF,smart_MACPF	p.A213	ENST00000361050.3	37	c.639	CCDS41650.1	11																																																																																			MPEG1	-	pfam_MACPF,smart_MACPF	ENSG00000197629		0.582	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	147	0.00	0	A	NM_001039396		58979700	58979700	-1	no_errors	ENST00000361050	ensembl	human	known	69_37n	silent	115	33.91	59	SNP	0.055	G
MPG	4350	genome.wustl.edu	37	16	133162	133163	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:133162_133163insC	ENST00000219431.4	+	4	658_659	c.427_428insC	c.(427-429)accfs	p.T143fs	MPG_ENST00000397817.1_Frame_Shift_Ins_p.T126fs|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	143					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGGCCGGCAGACCCCCCGCAAC	0.604								Base excision repair (BER), DNA glycosylases																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.433dupC	16.37:g.133168_133168dupC	ENSP00000219431:p.Thr143fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Frame_Shift_Ins	INS	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	p.R145fs	ENST00000219431.4	37	c.427_428	CCDS32346.1	16																																																																																			MPG	-	pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse	ENSG00000103152		0.604	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPG	HGNC	protein_coding	OTTHUMT00000109121.4	92	0.00	0	-			133162	133163	+1	no_errors	ENST00000219431	ensembl	human	known	69_37n	frame_shift_ins	80	27.27	30	INS	1.000:1.000	C
MR1	3140	genome.wustl.edu	37	1	181018296	181018296	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:181018296A>G	ENST00000367580.5	+	2	181	c.176A>G	c.(175-177)gAc>gGc	p.D59G	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.D59G|MR1_ENST00000434571.2_Missense_Mutation_p.D59G|MR1_ENST00000282990.6_Missense_Mutation_p.D59G	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	59	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	ACCACATATGACAGTGTCACT	0.572																																					Colon(174;1412 1962 45296 46549 47110)	dbGAP											0													54.0	53.0	53.0					1																	181018296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.176A>G	1.37:g.181018296A>G	ENSP00000356552:p.Asp59Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,prints_MHC_I_a_a1/a2,pfscan_Ig-like	p.D59G	ENST00000367580.5	37	c.176	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.443711	0.63067	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.92545	8.87;8.87;8.87;-3.06	3.88	3.88	0.44766	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.627356	0.15484	N	0.259950	D	0.95166	0.8433	H	0.97659	4.05	0.38019	D	0.934771	P;P;P;P;P	0.44521	0.714;0.837;0.668;0.477;0.837	B;B;B;B;P	0.45276	0.396;0.254;0.355;0.371;0.475	D	0.96614	0.9454	10	0.87932	D	0	.	9.2539	0.37571	1.0:0.0:0.0:0.0	.	59;59;59;59;59	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	G	59	ENSP00000388504:D59G;ENSP00000356552:D59G;ENSP00000282990:D59G;ENSP00000356551:D59G	ENSP00000282990:D59G	D	+	2	0	MR1	179284919	0.999000	0.42202	0.282000	0.24776	0.007000	0.05969	2.619000	0.46401	1.754000	0.51921	0.397000	0.26171	GAC	MR1	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000153029		0.572	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2	148	0.00	0	A	NM_001531		181018296	181018296	+1	no_errors	ENST00000367580	ensembl	human	known	69_37n	missense	335	12.95	50	SNP	0.957	G
MRAP	56246	genome.wustl.edu	37	21	33679042	33679042	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:33679042G>A	ENST00000399784.2	+	4	385	c.198G>A	c.(196-198)ccG>ccA	p.P66P	MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000339944.4_Silent_p.P66P|AP000266.7_ENST00000450936.1_RNA|MRAP_ENST00000303645.5_Silent_p.P66P|MRAP_ENST00000399786.3_Silent_p.P66P	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	66					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						CCGCCTCCCCGCAGATGAGGT	0.562																																						dbGAP											0													119.0	85.0	96.0					21																	33679042		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.198G>A	21.37:g.33679042G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	NULL	p.P66	ENST00000399784.2	37	c.198	CCDS13613.1	21																																																																																			MRAP	-	NULL	ENSG00000170262		0.562	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000193092.1	282	0.70	2	G	NM_178817		33679042	33679042	+1	no_errors	ENST00000303645	ensembl	human	known	69_37n	silent	160	39.16	103	SNP	0.000	A
MRC2	9902	genome.wustl.edu	37	17	60768012	60768012	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:60768012C>T	ENST00000303375.5	+	27	4304	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	MRC2_ENST00000446119.2_Missense_Mutation_p.A167V	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1301	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCGGGTGGGGCCGTCCTGTCT	0.637																																						dbGAP											0													79.0	81.0	81.0					17																	60768012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3902C>T	17.37:g.60768012C>T	ENSP00000307513:p.Ala1301Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.A1301V	ENST00000303375.5	37	c.3902	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659436	0.47467	.	.	ENSG00000011028	ENST00000303375;ENST00000446119	T;T	0.07688	3.17;3.17	4.13	3.14	0.36123	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.294833	0.31772	N	0.007095	T	0.04724	0.0128	N	0.17082	0.46	0.09310	N	0.999998	B;B	0.31351	0.32;0.053	B;B	0.31390	0.129;0.09	T	0.42103	-0.9471	10	0.21014	T	0.42	-1.4625	7.4525	0.27246	0.1632:0.7506:0.0:0.0861	.	167;1301	E7EME3;Q9UBG0	.;MRC2_HUMAN	V	1301;167	ENSP00000307513:A1301V;ENSP00000400445:A167V	ENSP00000307513:A1301V	A	+	2	0	MRC2	58121744	0.064000	0.20934	0.384000	0.26145	0.050000	0.14768	3.119000	0.50422	0.924000	0.37069	0.561000	0.74099	GCC	MRC2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000011028		0.637	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	188	0.00	0	C			60768012	60768012	+1	no_errors	ENST00000303375	ensembl	human	known	69_37n	missense	335	16.00	64	SNP	0.297	T
MRGPRX1	259249	genome.wustl.edu	37	11	18955771	18955772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:18955771_18955772insA	ENST00000302797.3	-	1	784_785	c.560_561insT	c.(559-561)ttafs	p.L187fs	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	187					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACCACACATAAAAAAATCAG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.561dupT	11.37:g.18955778_18955778dupA	ENSP00000305766:p.Leu187fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V9L2|Q8TDD8|Q8TDD9	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.L187fs	ENST00000302797.3	37	c.561_560	CCDS7846.1	11																																																																																			MRGPRX1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170255		0.510	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	868	0.00	0	-	NM_147199		18955771	18955772	-1	no_errors	ENST00000302797	ensembl	human	known	69_37n	frame_shift_ins	664	20.48	171	INS	0.323:0.237	A
MRGPRX1	259249	genome.wustl.edu	37	11	18956058	18956058	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:18956058delG	ENST00000302797.3	-	1	498	c.274delC	c.(274-276)catfs	p.H92fs	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	92					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGATGGTATGGGGGATACTG	0.517																																						dbGAP											0													136.0	138.0	137.0					11																	18956058		2194	4287	6481	-	-	-	SO:0001589	frameshift_variant	0				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.274delC	11.37:g.18956058delG	ENSP00000305766:p.His92fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4V9L2|Q8TDD8|Q8TDD9	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H92fs	ENST00000302797.3	37	c.274	CCDS7846.1	11																																																																																			MRGPRX1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170255		0.517	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	255	0.00	0	G	NM_147199		18956058	18956058	-1	no_errors	ENST00000302797	ensembl	human	known	69_37n	frame_shift_del	195	19.18	47	DEL	0.000	-
CCDC130	81576	genome.wustl.edu	37	19	13876943	13876943	+	IGR	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:13876943G>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000040663.6_Splice_Site_p.G183C|MRI1_ENST00000319545.8_Intron			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TACAGCCCTAGGTGAGAGGGC	0.557																																						dbGAP											0													23.0	26.0	25.0					19																	13876943		2203	4298	6501	-	-	-	SO:0001628	intergenic_variant	0			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13876943G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ72	Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.G183C	ENST00000586600.1	37	c.547	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525098	0.64747	.	.	ENSG00000037757	ENST00000040663	D	0.93019	-3.15	5.15	4.11	0.48088	.	0.053822	0.64402	D	0.000001	D	0.97692	0.9243	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97857	1.0278	10	0.87932	D	0	-44.0895	11.3752	0.49724	0.0895:0.0:0.9105:0.0	.	183	Q9BV20	MTNA_HUMAN	C	183	ENSP00000040663:G183C	ENSP00000040663:G183C	G	+	1	0	MRI1	13737943	1.000000	0.71417	0.875000	0.34327	0.419000	0.31324	8.748000	0.91615	1.171000	0.42768	0.313000	0.20887	GGT	MRI1	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	ENSG00000037757		0.557	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453216.2	38	0.00	0	G	NM_030818		13876943	13876943	+1	no_errors	ENST00000040663	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.997	T
MRPL46	26589	genome.wustl.edu	37	15	89002773	89002773	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:89002773G>A	ENST00000312475.4	-	0	952				MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46							mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAAATGTGAGGCAATCACACA	0.468																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.*71C>T	15.37:g.89002773G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD75|Q9HBU8	RNA	SNP	-	NULL	ENST00000312475.4	37	NULL	CCDS10341.1	15																																																																																			MRPL46	-	-	ENSG00000259494		0.468	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL46	Clone_based_vega_gene	protein_coding	OTTHUMT00000309073.1	102	0.00	0	G	NM_022163		89002773	89002773	-1	no_errors	ENST00000559538	ensembl	human	putative	69_37n	rna	77	34.75	41	SNP	0.000	A
MRPL55	128308	genome.wustl.edu	37	1	228295542	228295542	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:228295542T>C	ENST00000411464.2	-	4	848	c.55A>G	c.(55-57)Acc>Gcc	p.T19A	C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366734.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366738.1_Missense_Mutation_p.T55A|MRPL55_ENST00000366739.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366732.1_Missense_Mutation_p.T16A|MRPL55_ENST00000391867.3_Missense_Mutation_p.T19A|MRPL55_ENST00000336300.5_Missense_Mutation_p.T19A|MRPL55_ENST00000366740.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366736.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366742.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366735.1_Missense_Mutation_p.T19A|MRPL55_ENST00000295008.4_Missense_Mutation_p.T19A|MRPL55_ENST00000366731.5_Missense_Mutation_p.T55A|MRPL55_ENST00000348259.5_Missense_Mutation_p.T19A|MRPL55_ENST00000366744.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366733.1_Missense_Mutation_p.T19A|MRPL55_ENST00000366747.3_Missense_Mutation_p.T19A|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000336520.3_Missense_Mutation_p.T19A|MRPL55_ENST00000366746.3_Missense_Mutation_p.T19A|MRPL55_ENST00000430433.1_Missense_Mutation_p.T55A|MRPL55_ENST00000366741.1_Missense_Mutation_p.T19A			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	19					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GCAGGTCCGGTGGCCTTCACG	0.617																																						dbGAP											0													57.0	52.0	54.0					1																	228295542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.55A>G	1.37:g.228295542T>C	ENSP00000401737:p.Thr19Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	pfam_Ribosomal_L55_mit	p.T55A	ENST00000411464.2	37	c.163	CCDS1567.1	1	.	.	.	.	.	.	.	.	.	.	T	0.251	-1.006424	0.02112	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464;ENST00000457264	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	4.19	1.17	0.20885	.	0.614862	0.14782	N	0.298747	T	0.11324	0.0276	N	0.04355	-0.22	0.09310	N	1	B;B	0.15930	0.015;0.001	B;B	0.09377	0.004;0.001	T	0.34800	-0.9814	10	0.10902	T	0.67	-6.3054	7.2305	0.26040	0.0:0.6858:0.0:0.3142	.	55;19	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	A	16;19;19;19;19;55;19;19;19;19;19;19;19;19;19;19;19;55;19;55;19;19	ENSP00000355693:T16A;ENSP00000355694:T19A;ENSP00000355695:T19A;ENSP00000355696:T19A;ENSP00000355697:T19A;ENSP00000355699:T55A;ENSP00000355702:T19A;ENSP00000355701:T19A;ENSP00000355700:T19A;ENSP00000355703:T19A;ENSP00000355705:T19A;ENSP00000338189:T19A;ENSP00000355708:T19A;ENSP00000355707:T19A;ENSP00000295008:T19A;ENSP00000337342:T19A;ENSP00000337361:T19A;ENSP00000403614:T55A;ENSP00000375740:T19A;ENSP00000355692:T55A;ENSP00000401737:T19A;ENSP00000409966:T19A	ENSP00000295008:T19A	T	-	1	0	MRPL55	226362165	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.385000	0.07379	0.402000	0.25451	-0.248000	0.11899	ACC	MRPL55	-	pfam_Ribosomal_L55_mit	ENSG00000162910		0.617	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL55	HGNC	protein_coding	OTTHUMT00000092808.1	32	0.00	0	T	XM_059233		228295542	228295542	-1	no_errors	ENST00000366731	ensembl	human	known	69_37n	missense	72	10.84	9	SNP	0.002	C
MRPS2	51116	genome.wustl.edu	37	9	138395417	138395417	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:138395417G>A	ENST00000371785.1	+	5	538	c.329G>A	c.(328-330)cGc>cAc	p.R110H	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Missense_Mutation_p.R110H|C9orf116_ENST00000371791.1_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	110					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TTTGGGAGCCGCCTGGACCAC	0.597																																						dbGAP											0													90.0	72.0	78.0					9																	138395417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.329G>A	9.37:g.138395417G>A	ENSP00000360850:p.Arg110His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T899|Q9BSQ4	Missense_Mutation	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.R110H	ENST00000371785.1	37	c.329	CCDS6990.1	9	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372563	0.82573	.	.	ENSG00000122140	ENST00000371785;ENST00000241600;ENST00000453385	T;T;T	0.27557	1.66;1.66;1.66	3.74	3.74	0.42951	Ribosomal protein S2, flavodoxin-like domain (1);	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80077	-0.1533	10	0.87932	D	0	-35.5326	14.7869	0.69810	0.0:0.0:1.0:0.0	.	124;110	Q5T8A0;Q9Y399	.;RT02_HUMAN	H	110;110;124	ENSP00000360850:R110H;ENSP00000241600:R110H;ENSP00000400082:R124H	ENSP00000241600:R110H	R	+	2	0	MRPS2	137535238	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	8.522000	0.90573	1.943000	0.56356	0.638000	0.83543	CGC	MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom	ENSG00000122140		0.597	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	70	0.00	0	G			138395417	138395417	+1	no_errors	ENST00000241600	ensembl	human	known	69_37n	missense	47	44.71	38	SNP	1.000	A
MRPS31P5	100887750	genome.wustl.edu	37	13	52763962	52763962	+	RNA	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:52763962T>C	ENST00000451298.1	-	0	1316				MRPS31P5_ENST00000416599.1_RNA																							GAAGTCTTCTTGGAAGTCTCA	0.373																																						dbGAP											0																																										-	-	-			0																															13.37:g.52763962T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-	ENSG00000217576		0.373	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P3	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	162	0.00	0	T			52763962	52763962	-1	no_errors	ENST00000416599	ensembl	human	known	69_37n	rna	82	39.42	54	SNP	0.008	C
MRPS31P5	100887750	genome.wustl.edu	37	13	52764065	52764065	+	RNA	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:52764065delA	ENST00000451298.1	-	0	1229				MRPS31P5_ENST00000416599.1_RNA																							AAGATGCATTAAAAAAAATGA	0.303																																						dbGAP											0																																										-	-	-			0																															13.37:g.52764065delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-	ENSG00000217576		0.303	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P3	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	39	0.00	0	A			52764065	52764065	-1	no_errors	ENST00000416599	ensembl	human	known	69_37n	rna	26	31.58	12	DEL	0.041	-
MSH3	4437	genome.wustl.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													142.0	146.0	144.0					5																	79970915		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.K383fs	ENST00000265081.6	37	c.1141	CCDS34195.1	5																																																																																			MSH3	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt	ENSG00000113318		0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	236	0.00	0	A	NM_002439		79970915	79970915	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	frame_shift_del	188	36.45	109	DEL	0.982	-
MST1L	11223	genome.wustl.edu	37	1	17085849	17085849	+	RNA	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:17085849C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										AGCACCAGGGCGCCTCTGAGC	0.667																																						dbGAP											0																																										-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085849C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.A324	ENST00000455405.2	37	c.972		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.667	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	36	0.00	0	C	NM_001271733		17085849	17085849	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	62	16.00	12	SNP	1.000	T
MSX1	4487	genome.wustl.edu	37	4	4864437	4864437	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:4864437G>A	ENST00000382723.4	+	2	713	c.479G>A	c.(478-480)aGc>aAc	p.S160N	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	160					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGCGGCTGAGCCCCCCAGCC	0.567																																						dbGAP											0													59.0	77.0	71.0					4																	4864437		2179	4244	6423	-	-	-	SO:0001583	missense	0			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.479G>A	4.37:g.4864437G>A	ENSP00000372170:p.Ser160Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S160N	ENST00000382723.4	37	c.479	CCDS3378.2	4	.	.	.	.	.	.	.	.	.	.	G	32	5.110190	0.94292	.	.	ENSG00000163132	ENST00000382723	D	0.94862	-3.54	4.96	4.96	0.65561	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	M	0.84773	2.715	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97625	1.0138	10	0.52906	T	0.07	-7.9221	18.2029	0.89844	0.0:0.0:1.0:0.0	.	154	P28360	MSX1_HUMAN	N	160	ENSP00000372170:S160N	ENSP00000372170:S160N	S	+	2	0	MSX1	4915338	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.695000	0.98691	2.456000	0.83038	0.462000	0.41574	AGC	MSX1	-	NULL	ENSG00000163132		0.567	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	9	0.00	0	G			4864437	4864437	+1	no_errors	ENST00000382723	ensembl	human	known	69_37n	missense	6	36.36	4	SNP	1.000	A
MT1DP	326343	genome.wustl.edu	37	16	56678051	56678051	+	RNA	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:56678051C>T	ENST00000463480.2	+	0	77							A1L3X4	MT1DP_HUMAN	metallothionein 1D, pseudogene								metal ion binding (GO:0046872)										CCAGCTCCTGCAAATGCAAAG	0.562																																						dbGAP											0																																										-	-	-			0			AF348999		16q13	2011-04-15	2011-04-15		ENSG00000205361	ENSG00000205361		"""Metallothioneins"""	7396	pseudogene	pseudogene						6089206, 6327055, 3785191	Standard	NR_027781		Approved	MTM	uc010vhf.2	A1L3X4	OTTHUMG00000158354		16.37:g.56678051C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YX1	RNA	SNP	-	NULL	ENST00000463480.2	37	NULL		16																																																																																			MT1DP	-	-	ENSG00000205361		0.562	MT1DP-002	KNOWN	basic	processed_transcript	MT1DP	HGNC	pseudogene	OTTHUMT00000350774.2	147	0.00	0	C			56678051	56678051	+1	no_errors	ENST00000463480	ensembl	human	known	69_37n	rna	78	30.97	35	SNP	0.993	T
MTMR11	10903	genome.wustl.edu	37	1	149907310	149907310	+	Intron	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:149907310G>T	ENST00000439741.2	-	4	515				MTMR11_ENST00000369140.3_Intron|MTMR11_ENST00000406732.3_Intron|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_Intron	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11								phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCCTACCCTGGCAGCCCCAAC	0.473																																						dbGAP											0													34.0	32.0	33.0					1																	149907310		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.265-58C>A	1.37:g.149907310G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	RNA	SNP	-	NULL	ENST00000439741.2	37	NULL	CCDS53360.1	1																																																																																			MTMR11	-	-	ENSG00000014914		0.473	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		137	0.00	0	G	NM_181873		149907310	149907310	-1	no_errors	ENST00000479272	ensembl	human	known	69_37n	rna	213	22.55	62	SNP	0.000	T
MTMR14	64419	genome.wustl.edu	37	3	9714435	9714435	+	Silent	SNP	G	G	A	rs533653482	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:9714435G>A	ENST00000296003.4	+	7	866	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.P248P|MTMR14_ENST00000351233.5_Silent_p.P248P	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	248					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTCCATCCCGTATCCAGGTA	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		18529	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													128.0	124.0	125.0					3																	9714435		1960	4140	6100	-	-	-	SO:0001819	synonymous_variant	0			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.744G>A	3.37:g.9714435G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	NULL	p.P248	ENST00000296003.4	37	c.744	CCDS43043.1	3																																																																																			MTMR14	-	NULL	ENSG00000163719		0.552	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	240	0.00	0	G	NM_022485		9714435	9714435	+1	no_errors	ENST00000296003	ensembl	human	known	69_37n	silent	191	32.03	90	SNP	0.416	A
MTMR4	9110	genome.wustl.edu	37	17	56572389	56572389	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:56572389C>T	ENST00000323456.5	-	16	3238	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	MTMR4_ENST00000579925.1_Silent_p.Q981Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1038					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGACGTAGCTGCTCCACCT	0.532																																						dbGAP											0													190.0	155.0	167.0					17																	56572389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3114G>A	17.37:g.56572389C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.Q1038	ENST00000323456.5	37	c.3114	CCDS11608.1	17																																																																																			MTMR4	-	NULL	ENSG00000108389		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	361	0.00	0	C	NM_004687		56572389	56572389	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	silent	703	16.96	144	SNP	0.998	T
MTMR8	55613	genome.wustl.edu	37	X	63579391	63579391	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:63579391A>G	ENST00000374852.3	-	2	108	c.41T>C	c.(40-42)tTg>tCg	p.L14S	MTMR8_ENST00000453546.1_Missense_Mutation_p.L14S	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	14						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACGATCCACCAATTTCACGTT	0.423																																						dbGAP											1	Whole gene deletion(1)	ovary(1)											111.0	101.0	104.0					X																	63579391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.41T>C	X.37:g.63579391A>G	ENSP00000363985:p.Leu14Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT99|Q9NXP6	Missense_Mutation	SNP	pfam_Myotub-related,smart_Tyr_Pase_cat	p.L14S	ENST00000374852.3	37	c.41	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467128	0.43839	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.83992	-1.79;-1.79	3.13	3.13	0.36017	.	0.000000	0.36932	U	0.002334	D	0.91862	0.7424	M	0.93594	3.435	0.46396	D	0.999029	D;B	0.67145	0.996;0.294	D;B	0.77557	0.99;0.134	D	0.91893	0.5525	10	0.87932	D	0	.	9.0945	0.36632	1.0:0.0:0.0:0.0	.	14;14	B4DQL0;Q96EF0	.;MTMR8_HUMAN	S	14;14;13	ENSP00000394003:L14S;ENSP00000363985:L14S	ENSP00000247400:L13S	L	-	2	0	MTMR8	63496116	1.000000	0.71417	0.208000	0.23602	0.770000	0.43624	3.857000	0.55972	1.078000	0.41014	0.412000	0.27726	TTG	MTMR8	-	NULL	ENSG00000102043		0.423	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	345	0.58	2	A	NM_017677		63579391	63579391	-1	no_errors	ENST00000374852	ensembl	human	known	69_37n	missense	217	39.55	142	SNP	0.977	G
MTSS1	9788	genome.wustl.edu	37	8	125570148	125570149	+	Intron	INS	-	-	A	rs560196530	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:125570148_125570149insA	ENST00000518547.1	-	11	1509				MTSS1_ENST00000523587.1_Intron|MTSS1_ENST00000431961.2_Intron|MTSS1_ENST00000395508.2_Intron|MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000325064.5_Intron|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000524090.1_Intron	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGGGGGAAGGAAAAAAAATTA	0.421																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1036-32->T	8.37:g.125570156_125570156dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNK6|Q8TCA2|Q96RX2	RNA	INS	-	NULL	ENST00000518547.1	37	NULL	CCDS6353.1	8																																																																																			MTSS1	-	-	ENSG00000170873		0.421	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	58	0.00	0	-	NM_014751		125570148	125570149	-1	no_errors	ENST00000520094	ensembl	human	known	69_37n	rna	34	34.62	18	INS	0.000:0.003	A
MUC16	94025	genome.wustl.edu	37	19	9007831	9007831	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:9007831C>T	ENST00000397910.4	-	42	39596	c.39393G>A	c.(39391-39393)cgG>cgA	p.R13131R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13133					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCAGAGCTCCGATGGGTGA	0.532																																						dbGAP											0													125.0	115.0	119.0					19																	9007831		1998	4158	6156	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39393G>A	19.37:g.9007831C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R13131	ENST00000397910.4	37	c.39393	CCDS54212.1	19																																																																																			MUC16	-	smart_SEA	ENSG00000181143		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	693	0.14	1	C	NM_024690		9007831	9007831	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	172	74.96	518	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9074412	9074412	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:9074412G>A	ENST00000397910.4	-	3	13237	c.13034C>T	c.(13033-13035)gCc>gTc	p.A4345V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4347	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGAAAGTGGCTTGTGTCTT	0.478																																						dbGAP											0													108.0	114.0	112.0					19																	9074412		2076	4201	6277	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13034C>T	19.37:g.9074412G>A	ENSP00000381008:p.Ala4345Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A4345V	ENST00000397910.4	37	c.13034	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.306	0.056080	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.8	-3.6	0.04570	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.45542	-0.9254	8	0.87932	D	0	.	3.7324	0.08498	0.3055:0.0:0.4841:0.2105	.	4345	B5ME49	.	V	4345	ENSP00000381008:A4345V	ENSP00000381008:A4345V	A	-	2	0	MUC16	8935412	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.058000	0.11750	-1.486000	0.01851	-0.680000	0.03767	GCC	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	456	0.00	0	G	NM_024690		9074412	9074412	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	352	32.31	169	SNP	0.000	A
MUC16	94025	genome.wustl.edu	37	19	9076843	9076843	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:9076843T>C	ENST00000397910.4	-	3	10806	c.10603A>G	c.(10603-10605)Act>Gct	p.T3535A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3536	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACCTGGAGTAGGAGCTGTG	0.522																																						dbGAP											0													253.0	244.0	247.0					19																	9076843		2134	4229	6363	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10603A>G	19.37:g.9076843T>C	ENSP00000381008:p.Thr3535Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T3535A	ENST00000397910.4	37	c.10603	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	3.105	-0.183932	0.06340	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.67	0.58	0.17402	.	.	.	.	.	T	0.01421	0.0046	N	0.08118	0	.	.	.	P	0.46952	0.887	B	0.42319	0.383	T	0.48375	-0.9041	8	0.87932	D	0	.	4.5553	0.12133	0.0:0.0:0.3415:0.6585	.	3535	B5ME49	.	A	3535	ENSP00000381008:T3535A	ENSP00000381008:T3535A	T	-	1	0	MUC16	8937843	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.317000	0.08060	0.094000	0.17404	0.260000	0.18958	ACT	MUC16	-	NULL	ENSG00000181143		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	610	0.16	1	T	NM_024690		9076843	9076843	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	376	37.54	229	SNP	0.001	C
MUC2	4583	genome.wustl.edu	37	11	1084831	1084831	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:1084831T>C	ENST00000441003.2	+	20	2653	c.2626T>C	c.(2626-2628)Tac>Cac	p.Y876H	MUC2_ENST00000359061.5_Missense_Mutation_p.Y876H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	876	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGGAAGTACTACGACTTTGA	0.597																																						dbGAP											0													96.0	96.0	96.0					11																	1084831		2166	4248	6414	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2626T>C	11.37:g.1084831T>C	ENSP00000415183:p.Tyr876His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Y876H	ENST00000441003.2	37	c.2626		11	.	.	.	.	.	.	.	.	.	.	T	13.79	2.343153	0.41498	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.75589	-0.95;-0.95	4.21	4.21	0.49690	.	0.100266	0.41097	D	0.000959	D	0.86142	0.5862	M	0.83603	2.65	0.33101	D	0.539264	D	0.89917	1.0	D	0.87578	0.998	D	0.90895	0.4764	10	0.87932	D	0	.	13.4597	0.61221	0.0:0.0:0.0:1.0	.	876	E7EUV1	.	H	876	ENSP00000415183:Y876H;ENSP00000351956:Y876H	ENSP00000351956:Y876H	Y	+	1	0	MUC2	1074831	0.998000	0.40836	0.091000	0.20842	0.465000	0.32709	7.738000	0.84966	1.778000	0.52293	0.459000	0.35465	TAC	MUC2	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D	ENSG00000198788		0.597	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	230	0.86	2	T	NM_002457		1084831	1084831	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	123	43.64	96	SNP	0.955	C
MUC4	4585	genome.wustl.edu	37	3	195512843	195512843	+	Missense_Mutation	SNP	C	C	T	rs551809935		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:195512843C>T	ENST00000463781.3	-	2	6067	c.5608G>A	c.(5608-5610)Gcc>Acc	p.A1870T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1870T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGAGGTGGCGTGACCTGTG	0.562													.|||	1	0.000199681	0.0008	0.0	5008	,	,		33917	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													64.0	49.0	54.0					3																	195512843		692	1590	2282	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5608G>A	3.37:g.195512843C>T	ENSP00000417498:p.Ala1870Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.A1870T	ENST00000463781.3	37	c.5608	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	4.707	0.131474	0.08981	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.5;1.5	1.13	-2.25	0.06888	.	0.000000	0.25514	N	0.030158	T	0.12732	0.0309	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.16778	-1.0391	9	.	.	.	.	2.743	0.05259	0.0:0.3122:0.255:0.4328	.	1870	E7ESK3	.	T	1870	ENSP00000417498:A1870T;ENSP00000420243:A1870T	.	A	-	1	0	MUC4	196997238	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-2.300000	0.01138	-1.309000	0.02315	-1.780000	0.00649	GCC	MUC4	-	NULL	ENSG00000145113		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	1504	0.13	2	C	NM_018406		195512843	195512843	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	922	17.43	197	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1264985	1264985	+	Missense_Mutation	SNP	G	G	A	rs201272043		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:1264985G>A	ENST00000529681.1	+	31	6933	c.6875G>A	c.(6874-6876)cGc>cAc	p.R2292H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R2295H|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2292	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCAAGACCCGCACCTCGACC	0.682																																						dbGAP											0													58.0	88.0	78.0					11																	1264985		2090	4201	6291	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6875G>A	11.37:g.1264985G>A	ENSP00000436812:p.Arg2292His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,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_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R2295H	ENST00000529681.1	37	c.6884	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	8.526	0.869783	0.17322	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15834	2.39;2.59	1.78	-3.56	0.04626	.	.	.	.	.	T	0.14614	0.0353	L	0.50333	1.59	0.09310	N	1	D;D	0.67145	0.996;0.996	B;B	0.44278	0.445;0.445	T	0.04961	-1.0915	9	0.87932	D	0	.	4.8799	0.13674	0.1031:0.3247:0.4593:0.1129	.	2930;2295	A7Y9J9;E9PBJ0	.;.	H	2292;2295;2293;2307	ENSP00000436812:R2292H;ENSP00000415793:R2295H	ENSP00000343037:R2293H	R	+	2	0	MUC5B	1221561	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.413000	0.07123	-1.619000	0.01566	0.305000	0.20034	CGC	MUC5B	-	NULL	ENSG00000117983		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	628	0.32	2	G	XM_001126093		1264985	1264985	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	464	23.73	145	SNP	0.000	A
MXRA5	25878	genome.wustl.edu	37	X	3228563	3228563	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:3228563T>C	ENST00000217939.6	-	7	7835	c.7681A>G	c.(7681-7683)Agc>Ggc	p.S2561G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2561	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGTTGAGGCTGATGGTGTGG	0.622																																						dbGAP											0													16.0	17.0	17.0					X																	3228563		2194	4289	6483	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7681A>G	X.37:g.3228563T>C	ENSP00000217939:p.Ser2561Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2561G	ENST00000217939.6	37	c.7681	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	T	17.21	3.331444	0.60853	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	4.05	4.05	0.47172	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174361	0.27539	U	0.018920	T	0.68238	0.2979	M	0.62016	1.91	0.27425	N	0.954172	P	0.46621	0.881	P	0.48425	0.577	T	0.61618	-0.7026	10	0.27785	T	0.31	.	12.5957	0.56468	0.0:0.0:0.0:1.0	.	2561	Q9NR99	MXRA5_HUMAN	G	2561	ENSP00000217939:S2561G	ENSP00000217939:S2561G	S	-	1	0	MXRA5	3238563	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.548000	0.45794	1.333000	0.45449	0.483000	0.47432	AGC	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000101825		0.622	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	75	0.00	0	T	NM_015419		3228563	3228563	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	69	23.33	21	SNP	1.000	C
MYBPC2	4606	genome.wustl.edu	37	19	50938423	50938423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:50938423delA	ENST00000357701.5	+	2	76	c.25delA	c.(25-27)aaafs	p.K10fs		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	10					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACAGCGGCCAAAAAGGCCCC	0.642																																						dbGAP											0													15.0	17.0	16.0					19																	50938423		1920	4115	6035	-	-	-	SO:0001589	frameshift_variant	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.25delA	19.37:g.50938423delA	ENSP00000350332:p.Lys10fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4G9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K10fs	ENST00000357701.5	37	c.25	CCDS46152.1	19																																																																																			MYBPC2	-	NULL	ENSG00000086967		0.642	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	22	0.00	0	A	NM_004533		50938423	50938423	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	frame_shift_del	15	37.50	9	DEL	1.000	-
MYH1	4619	genome.wustl.edu	37	17	10397961	10397961	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:10397961A>G	ENST00000226207.5	-	38	5590	c.5496T>C	c.(5494-5496)agT>agC	p.S1832S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1832					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTTCTGTTCACTTTCAACTT	0.403																																						dbGAP											0													217.0	196.0	203.0					17																	10397961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5496T>C	17.37:g.10397961A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1832	ENST00000226207.5	37	c.5496	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.403	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	608	0.16	1	A	NM_005963		10397961	10397961	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	silent	449	28.57	180	SNP	0.373	G
MYH14	79784	genome.wustl.edu	37	19	50785040	50785040	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:50785040C>A	ENST00000596571.1	+	30	4357	c.4357C>A	c.(4357-4359)Ctg>Atg	p.L1453M	MYH14_ENST00000601313.1_Missense_Mutation_p.L1494M|MYH14_ENST00000262269.8_Missense_Mutation_p.L1494M|MYH14_ENST00000440075.2_Missense_Mutation_p.L1494M|MYH14_ENST00000425460.1_Missense_Mutation_p.L1461M|MYH14_ENST00000376970.2_Missense_Mutation_p.L1486M|MYH14_ENST00000598205.1_Missense_Mutation_p.L1461M			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1453					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CACCATGGACCTGGAGCAGCA	0.662																																						dbGAP											0													14.0	18.0	17.0					19																	50785040		2123	4222	6345	-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4357C>A	19.37:g.50785040C>A	ENSP00000472819:p.Leu1453Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1494M	ENST00000596571.1	37	c.4480	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660301	0.67586	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	4.0	2.96	0.34315	Myosin tail (1);	.	.	.	.	D	0.91593	0.7344	M	0.74647	2.275	0.45205	D	0.998217	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.989	D	0.90365	0.4376	8	.	.	.	.	9.5497	0.39301	0.0:0.8945:0.0:0.1055	.	1494;1453;1461	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	M	1494;1486;1461;1494	ENSP00000406273:L1494M;ENSP00000366169:L1486M;ENSP00000407879:L1461M;ENSP00000262269:L1494M	.	L	+	1	2	MYH14	55476852	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.404000	0.59735	1.037000	0.40024	0.561000	0.74099	CTG	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.662	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	8	0.00	0	C	NM_024729		50785040	50785040	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	A
MYH2	4620	genome.wustl.edu	37	17	10442670	10442670	+	Splice_Site	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:10442670A>G	ENST00000245503.5	-	14	1652	c.1268T>C	c.(1267-1269)gTg>gCg	p.V423A	MYH2_ENST00000532183.2_Splice_Site_p.V423A|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Splice_Site_p.V423A	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	423	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGTTGGACACCTTAAAAGA	0.463																																						dbGAP											0													143.0	146.0	145.0					17																	10442670		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1267-1T>C	17.37:g.10442670A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V423A	ENST00000245503.5	37	c.1268	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	18.21	3.574524	0.65878	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.59083	0.29;0.29;0.29	4.9	4.9	0.64082	Myosin head, motor domain (2);	0.000000	0.35436	U	0.003201	T	0.67739	0.2925	L	0.41632	1.29	0.58432	D	0.999996	D;P	0.57257	0.979;0.578	D;P	0.79784	0.993;0.865	T	0.71101	-0.4690	10	0.87932	D	0	.	13.8568	0.63531	1.0:0.0:0.0:0.0	.	423;423	Q567P6;Q9UKX2	.;MYH2_HUMAN	A	423	ENSP00000433944:V423A;ENSP00000245503:V423A;ENSP00000380367:V423A	ENSP00000245503:V423A	V	-	2	0	MYH2	10383395	1.000000	0.71417	0.911000	0.35937	0.196000	0.23810	9.139000	0.94554	2.059000	0.61396	0.477000	0.44152	GTG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000125414		0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	350	0.28	1	A	NM_017534	Missense_Mutation	10442670	10442670	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	missense	227	38.71	144	SNP	0.998	G
MYH3	4621	genome.wustl.edu	37	17	10542777	10542777	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:10542777A>G	ENST00000583535.1	-	24	3027	c.2940T>C	c.(2938-2940)acT>acC	p.T980T	MYH3_ENST00000226209.7_Silent_p.T980T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	980					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGAGTTCCTCAGTAAGGTTTT	0.418																																						dbGAP											0													60.0	59.0	59.0					17																	10542777		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2940T>C	17.37:g.10542777A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.T980	ENST00000583535.1	37	c.2940	CCDS11157.1	17																																																																																			MYH3	-	NULL	ENSG00000109063		0.418	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	297	0.00	0	A	NM_002470		10542777	10542777	-1	no_errors	ENST00000226209	ensembl	human	known	69_37n	silent	179	36.75	104	SNP	0.444	G
MYH3	4621	genome.wustl.edu	37	17	10549319	10549319	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:10549319T>C	ENST00000583535.1	-	11	1016	c.929A>G	c.(928-930)gAc>gGc	p.D310G	MYH3_ENST00000226209.7_Missense_Mutation_p.D310G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	310	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAACGGGTAGTCGTAAGGGTT	0.512											OREG0024181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													128.0	118.0	121.0					17																	10549319		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.929A>G	17.37:g.10549319T>C	ENSP00000464317:p.Asp310Gly	Somatic	665	WXS	Illumina GAIIx	Phase_IV	Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.D310G	ENST00000583535.1	37	c.929	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772066	0.90108	.	.	ENSG00000109063	ENST00000226209	D	0.87887	-2.31	5.08	5.08	0.68730	Myosin head, motor domain (2);	.	.	.	.	D	0.94820	0.8327	M	0.93016	3.37	0.51233	D	0.999916	D	0.65815	0.995	D	0.77557	0.99	D	0.95942	0.8947	9	0.87932	D	0	.	15.3029	0.73969	0.0:0.0:0.0:1.0	.	310	P11055	MYH3_HUMAN	G	310	ENSP00000226209:D310G	ENSP00000226209:D310G	D	-	2	0	MYH3	10490044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.262000	0.75019	0.528000	0.53228	GAC	MYH3	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000109063		0.512	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	345	0.00	0	T	NM_002470		10549319	10549319	-1	no_errors	ENST00000226209	ensembl	human	known	69_37n	missense	238	32.77	117	SNP	1.000	C
MYH9	4627	genome.wustl.edu	37	22	36680450	36680450	+	Splice_Site	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:36680450T>G	ENST00000216181.5	-	39	5821	c.5591A>C	c.(5590-5592)cAg>cCg	p.Q1864P	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1864					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						CGCCCACACCTGGTCCTTGTA	0.662			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													109.0	72.0	84.0					22																	36680450		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.5592+1A>C	22.37:g.36680450T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_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.Q1864P	ENST00000216181.5	37	c.5591	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011857	0.75046	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.78364	-1.17	4.75	4.75	0.60458	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	M	0.90425	3.115	0.80722	D	1	D	0.56968	0.978	D	0.65573	0.936	D	0.90831	0.4716	10	0.72032	D	0.01	.	12.8173	0.57673	0.0:0.0:0.0:1.0	.	1864	P35579	MYH9_HUMAN	P	1286;466;1864	ENSP00000216181:Q1864P	ENSP00000216181:Q1864P	Q	-	2	0	MYH9	35010396	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.767000	0.85331	1.759000	0.51996	0.254000	0.18369	CAG	MYH9	-	pfam_Myosin_tail	ENSG00000100345		0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	186	0.00	0	T	NM_002473	Missense_Mutation	36680450	36680450	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	missense	103	40.46	70	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36698708	36698708	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:36698708C>A	ENST00000216181.5	-	20	2635	c.2405G>T	c.(2404-2406)cGg>cTg	p.R802L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	802	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)	p.R802L(1)		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						CTGCTGCTGCCGCTTGGCAAA	0.597			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	1	Substitution - Missense(1)	lung(1)											69.0	58.0	62.0					22																	36698708		2203	4300	6503	-	-	-	SO:0001583	missense	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.2405G>T	22.37:g.36698708C>A	ENSP00000216181:p.Arg802Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_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.R802L	ENST00000216181.5	37	c.2405	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869693	0.91587	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.16743	2.32	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.19005	0.0456	L	0.46819	1.47	0.80722	D	1	B	0.21071	0.051	B	0.19391	0.025	T	0.04509	-1.0946	10	0.21540	T	0.41	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	802	P35579	MYH9_HUMAN	L	666;802	ENSP00000216181:R802L	ENSP00000216181:R802L	R	-	2	0	MYH9	35028654	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.922000	0.63404	2.620000	0.88729	0.655000	0.94253	CGG	MYH9	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000100345		0.597	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	93	0.00	0	C	NM_002473		36698708	36698708	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	missense	54	44.33	43	SNP	1.000	A
MYLK	4638	genome.wustl.edu	37	3	123376171	123376171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:123376171G>A	ENST00000475616.1	-	21	4089	c.4090C>T	c.(4090-4092)Cag>Tag	p.Q1364*	MYLK_ENST00000354792.5_Nonsense_Mutation_p.Q164*|MYLK_ENST00000360772.3_Nonsense_Mutation_p.Q1364*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q1364*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q1295*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q1364*			Q15746	MYLK_HUMAN	myosin light chain kinase	1364	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGTAGGACTGTACAGCACTG	0.582																																						dbGAP											0													130.0	111.0	118.0					3																	123376171		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4090C>T	3.37:g.123376171G>A	ENSP00000418335:p.Gln1364*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q1364*	ENST00000475616.1	37	c.4090	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	44	11.036821	0.99507	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.547	0.76112	0.0:0.1374:0.8626:0.0	.	.	.	.	X	1364;1364;1364;1295;164;1364;164	.	ENSP00000320622:Q1295X	Q	-	1	0	MYLK	124858861	1.000000	0.71417	0.961000	0.40146	0.784000	0.44337	6.497000	0.73674	2.822000	0.97130	0.655000	0.94253	CAG	MYLK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000065534		0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	244	0.00	0	G	NM_053025		123376171	123376171	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	nonsense	167	41.61	119	SNP	1.000	A
MYLK	4638	genome.wustl.edu	37	3	123401149	123401149	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:123401149C>T	ENST00000475616.1	-	17	3573	c.3574G>A	c.(3574-3576)Gcc>Acc	p.A1192T	MYLK_ENST00000354792.5_5'UTR|MYLK_ENST00000360772.3_Missense_Mutation_p.A1192T|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Missense_Mutation_p.A1192T|MYLK_ENST00000346322.5_Missense_Mutation_p.A1123T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1192T			Q15746	MYLK_HUMAN	myosin light chain kinase	1192	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCTCACTGGCTGGAGCATCT	0.522																																						dbGAP											0													54.0	49.0	51.0					3																	123401149		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3574G>A	3.37:g.123401149C>T	ENSP00000418335:p.Ala1192Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A1192T	ENST00000475616.1	37	c.3574	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	C	2.134	-0.398467	0.04865	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66995	-0.24;-0.19;-0.24;-0.19;-0.19	4.51	-3.7	0.04437	Immunoglobulin-like fold (1);	.	.	.	.	T	0.28962	0.0719	N	0.02539	-0.55	0.20489	N	0.999894	B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.09377	0.002;0.001;0.002;0.002;0.004;0.001	T	0.34800	-0.9814	9	0.02654	T	1	.	5.5271	0.16964	0.1387:0.3372:0.0:0.524	.	1192;270;1123;1192;1123;1192	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1192;1192;1192;1123;1192	ENSP00000354004:A1192T;ENSP00000353452:A1192T;ENSP00000352088:A1192T;ENSP00000320622:A1123T;ENSP00000418335:A1192T	ENSP00000320622:A1123T	A	-	1	0	MYLK	124883839	0.000000	0.05858	0.007000	0.13788	0.689000	0.40095	-1.609000	0.02066	-0.546000	0.06216	0.561000	0.74099	GCC	MYLK	-	NULL	ENSG00000065534		0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	239	0.00	0	C	NM_053025		123401149	123401149	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	missense	148	33.63	75	SNP	0.001	T
MYO10	4651	genome.wustl.edu	37	5	16694613	16694614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:16694613_16694614insT	ENST00000513610.1	-	27	4120_4121	c.3666_3667insA	c.(3664-3669)aaagggfs	p.G1223fs	MYO10_ENST00000427430.2_Frame_Shift_Ins_p.G580fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.G580fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.G562fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.G562fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1223	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.G1223R(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGGA	0.554																																						dbGAP											5	Substitution - Missense(5)	endometrium(4)|prostate(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3667dupA	5.37:g.16694619_16694619dupT	ENSP00000421280:p.Gly1223fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.G1222fs	ENST00000513610.1	37	c.3667_3666	CCDS54834.1	5																																																																																			MYO10	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000145555		0.554	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	150	0.00	0	-	NM_012334		16694613	16694614	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	frame_shift_ins	135	23.30	41	INS	1.000:0.662	T
MYO16	23026	genome.wustl.edu	37	13	109459037	109459037	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:109459037C>T	ENST00000357550.2	+	6	727	c.686C>T	c.(685-687)gCg>gTg	p.A229V	MYO16_ENST00000356711.2_Missense_Mutation_p.A229V|MYO16_ENST00000251041.5_Missense_Mutation_p.A229V	NM_001198950.1	NP_001185879.1			myosin XVI									p.A229V(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTACACATGGCGTGTGCGAGT	0.433																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											110.0	101.0	104.0					13																	109459037		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.686C>T	13.37:g.109459037C>T	ENSP00000350160:p.Ala229Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A229V	ENST00000357550.2	37	c.686	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610498	0.66558	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.80909	-1.43;-1.43;-1.43	5.05	5.05	0.67936	Ankyrin repeat-containing domain (4);	0.000000	0.40385	U	0.001119	D	0.90202	0.6937	M	0.86864	2.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68039	0.914;0.955	D	0.91513	0.5228	9	.	.	.	.	15.9302	0.79654	0.0:1.0:0.0:0.0	.	229;229	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	V	229;229;229;229;17	ENSP00000349145:A229V;ENSP00000350160:A229V;ENSP00000251041:A229V	.	A	+	2	0	MYO16	108257038	1.000000	0.71417	0.976000	0.42696	0.353000	0.29299	4.922000	0.63404	2.328000	0.79073	0.655000	0.94253	GCG	MYO16	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000041515		0.433	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	255	0.00	0	C	NM_015011		109459037	109459037	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	178	32.83	87	SNP	0.999	T
MYO16	23026	genome.wustl.edu	37	13	109707900	109707900	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:109707900T>C	ENST00000357550.2	+	26	3267	c.3226T>C	c.(3226-3228)Tat>Cat	p.Y1076H	MYO16_ENST00000356711.2_Missense_Mutation_p.Y1076H|MYO16_ENST00000457511.2_Missense_Mutation_p.Y588H	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GATCTTCCGATATGGATACCC	0.443																																						dbGAP											0													183.0	178.0	179.0					13																	109707900		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3226T>C	13.37:g.109707900T>C	ENSP00000350160:p.Tyr1076His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y1076H	ENST00000357550.2	37	c.3226	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	T	9.324	1.058714	0.19987	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.86769	-2.17;-2.17;-2.17	5.4	-1.25	0.09405	Myosin head, motor domain (2);	0.676037	0.12048	N	0.504388	T	0.78635	0.4314	L	0.29908	0.895	0.09310	N	1	B;B;B	0.23058	0.013;0.002;0.079	B;B;B	0.28638	0.011;0.006;0.092	T	0.61501	-0.7050	9	.	.	.	.	11.2638	0.49099	0.0:0.4535:0.0:0.5465	.	588;1076;1076	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	H	1076;1076;864;588	ENSP00000349145:Y1076H;ENSP00000350160:Y1076H;ENSP00000401633:Y588H	.	Y	+	1	0	MYO16	108505901	0.028000	0.19301	0.000000	0.03702	0.973000	0.67179	0.914000	0.28624	-0.448000	0.07128	0.459000	0.35465	TAT	MYO16	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000041515		0.443	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	276	0.00	0	T	NM_015011		109707900	109707900	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	missense	175	40.14	118	SNP	0.027	C
MYO16	23026	genome.wustl.edu	37	13	109779750	109779750	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:109779750G>A	ENST00000357550.2	+	30	3878	c.3837G>A	c.(3835-3837)tcG>tcA	p.S1279S	MYO16_ENST00000356711.2_Silent_p.S1279S|MYO16_ENST00000457511.2_Silent_p.S791S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCTGCACTCGGTGTTCAGCA	0.642																																						dbGAP											0													50.0	44.0	46.0					13																	109779750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3837G>A	13.37:g.109779750G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1279	ENST00000357550.2	37	c.3837	CCDS32008.1	13																																																																																			MYO16	-	NULL	ENSG00000041515		0.642	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	110	0.00	0	G	NM_015011		109779750	109779750	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	silent	56	32.53	27	SNP	0.058	A
MYO18A	399687	genome.wustl.edu	37	17	27414017	27414017	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:27414017G>A	ENST00000527372.1	-	38	5829	c.5649C>T	c.(5647-5649)acC>acT	p.T1883T	MYO18A_ENST00000531253.1_Silent_p.T1883T|MYO18A_ENST00000354329.4_Silent_p.T1883T|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Silent_p.T1846T|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1883					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCTCCTCCTTGGTGTCCCGGA	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													47.0	53.0	51.0					17																	27414017		2061	4177	6238	-	-	-	SO:0001819	synonymous_variant	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5649C>T	17.37:g.27414017G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.T1883	ENST00000527372.1	37	c.5649	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488078	0.26686	.	.	ENSG00000196535	ENST00000527859	.	.	.	5.18	3.15	0.36227	.	.	.	.	.	T	0.59115	0.2170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54536	-0.8279	4	.	.	.	.	9.6079	0.39645	0.0713:0.2672:0.6615:0.0	.	.	.	.	L	146	.	.	P	-	2	0	MYO18A	24438143	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	0.261000	0.18442	0.859000	0.35456	0.561000	0.74099	CCA	MYO18A	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000196535		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	100	0.00	0	G	NM_078471		27414017	27414017	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	silent	152	14.12	25	SNP	1.000	A
MYO18A	399687	genome.wustl.edu	37	17	27493811	27493811	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:27493811G>A	ENST00000527372.1	-	2	328	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	MYO18A_ENST00000531253.1_Missense_Mutation_p.R50C|MYO18A_ENST00000354329.4_Missense_Mutation_p.R50C|MYO18A_ENST00000533112.1_Missense_Mutation_p.R50C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	50	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGGAGGAGCGGTTCAGGTTG	0.572																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	dbGAP											0													44.0	53.0	50.0					17																	27493811		2179	4282	6461	-	-	-	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.148C>T	17.37:g.27493811G>A	ENSP00000437073:p.Arg50Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.R50C	ENST00000527372.1	37	c.148	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961235	0.74016	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	D;D;D;D	0.89552	-2.42;-2.53;-2.42;-2.42	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91670	0.7367	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.92776	0.6236	10	0.87932	D	0	.	18.3651	0.90388	0.0:0.0:1.0:0.0	.	50;50;50	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	C	50	ENSP00000346291:R50C;ENSP00000435932:R50C;ENSP00000434228:R50C;ENSP00000437073:R50C	ENSP00000346291:R50C	R	-	1	0	MYO18A	24517937	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.540000	0.60664	2.578000	0.87016	0.467000	0.42956	CGC	MYO18A	-	NULL	ENSG00000196535		0.572	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	211	0.00	0	G	NM_078471		27493811	27493811	-1	no_errors	ENST00000354329	ensembl	human	known	69_37n	missense	376	18.88	88	SNP	1.000	A
MYO18B	84700	genome.wustl.edu	37	22	26164407	26164407	+	Frame_Shift_Del	DEL	C	C	-	rs563679638		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:26164407delC	ENST00000407587.2	+	4	693	c.524delC	c.(523-525)gccfs	p.A175fs	MYO18B_ENST00000335473.7_Frame_Shift_Del_p.A175fs|MYO18B_ENST00000536101.1_Frame_Shift_Del_p.A175fs			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	175						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCCATGACGCCCCCCCTTGC	0.602																																						dbGAP											0													21.0	25.0	24.0					22																	26164407		1968	4144	6112	-	-	-	SO:0001589	frameshift_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.524delC	22.37:g.26164407delC	ENSP00000386096:p.Ala175fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P177fs	ENST00000407587.2	37	c.524		22																																																																																			MYO18B	-	superfamily_Ribosomal_zn-bd_dom	ENSG00000133454		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	46	0.00	0	C	NM_032608		26164407	26164407	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	frame_shift_del	41	24.07	13	DEL	0.000	-
MYO1A	4640	genome.wustl.edu	37	12	57432356	57432356	+	Missense_Mutation	SNP	C	C	T	rs571962392		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:57432356C>T	ENST00000442789.2	-	18	1887	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T	MYO1A_ENST00000300119.3_Missense_Mutation_p.A534T|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.A372T	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	534	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTCCACATGGCCTGCAACAGG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20823	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													89.0	84.0	85.0					12																	57432356		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1600G>A	12.37:g.57432356C>T	ENSP00000393392:p.Ala534Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A534T	ENST00000442789.2	37	c.1600	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112108	0.37242	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87729	-2.29;-2.29;-2.29	4.94	1.76	0.24704	Myosin head, motor domain (2);	0.283834	0.38272	N	0.001756	T	0.76271	0.3964	L	0.31845	0.965	0.34746	D	0.731238	B	0.18968	0.032	B	0.20184	0.028	T	0.65463	-0.6162	10	0.13108	T	0.6	.	7.8795	0.29614	0.0:0.7219:0.0:0.2781	.	534	Q9UBC5	MYO1A_HUMAN	T	534;534;372	ENSP00000300119:A534T;ENSP00000393392:A534T;ENSP00000440514:A372T	ENSP00000300119:A534T	A	-	1	0	MYO1A	55718623	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	3.318000	0.51975	0.120000	0.18254	-0.367000	0.07326	GCC	MYO1A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000166866		0.542	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	93	0.00	0	C	NM_005379		57432356	57432356	-1	no_errors	ENST00000300119	ensembl	human	known	69_37n	missense	65	41.44	46	SNP	1.000	T
MYO1B	4430	genome.wustl.edu	37	2	192252145	192252145	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:192252145A>G	ENST00000392318.3	+	17	1997	c.1750A>G	c.(1750-1752)Aac>Gac	p.N584D	MYO1B_ENST00000392316.1_Missense_Mutation_p.N584D|MYO1B_ENST00000339514.4_Missense_Mutation_p.N584D|MYO1B_ENST00000304164.4_Missense_Mutation_p.N584D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	584	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCTGATGAAAAACCTACAGAC	0.458																																						dbGAP											0													83.0	90.0	87.0					2																	192252145		2203	4300	6503	-	-	-	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1750A>G	2.37:g.192252145A>G	ENSP00000376132:p.Asn584Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N584D	ENST00000392318.3	37	c.1750	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173904	0.78452	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.7	5.7	0.88788	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.91994	0.7464	M	0.79926	2.475	0.80722	D	1	P;P;P	0.44195	0.828;0.828;0.473	P;P;B	0.53102	0.718;0.718;0.329	D	0.92863	0.6307	10	0.72032	D	0.01	.	15.9796	0.80097	1.0:0.0:0.0:0.0	.	584;584;584	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	D	584	ENSP00000341903:N584D;ENSP00000376132:N584D;ENSP00000306382:N584D;ENSP00000376130:N584D	ENSP00000306382:N584D	N	+	1	0	MYO1B	191960390	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.452000	0.80683	2.185000	0.69588	0.528000	0.53228	AAC	MYO1B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000128641		0.458	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	136	0.00	0	A	NM_012223		192252145	192252145	+1	no_errors	ENST00000304164	ensembl	human	known	69_37n	missense	118	21.85	33	SNP	1.000	G
MYO1H	283446	genome.wustl.edu	37	12	109882288	109882288	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:109882288G>A	ENST00000431443.2	+	29	2929	c.2929G>A	c.(2929-2931)Gtc>Atc	p.V977I	RP11-256L11.3_ENST00000539987.1_RNA|MYO1H_ENST00000310903.5_Missense_Mutation_p.V967I	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	977	Myosin tail. {ECO:0000255}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TACTAAACTCGTCATGCTGGT	0.423																																						dbGAP											0													147.0	139.0	141.0					12																	109882288		1978	4165	6143	-	-	-	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2929G>A	12.37:g.109882288G>A	ENSP00000444076:p.Val977Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.V977I	ENST00000431443.2	37	c.2929		12	.	.	.	.	.	.	.	.	.	.	G	11.79	1.745156	0.30955	.	.	ENSG00000174527	ENST00000310903;ENST00000431443;ENST00000542268	T;T	0.36699	1.24;1.24	5.6	1.32	0.21799	Myosin tail 2 (1);	.	.	.	.	T	0.15565	0.0375	N	0.10809	0.05	0.09310	N	0.99999	B;B	0.29270	0.24;0.201	B;B	0.25506	0.061;0.022	T	0.22487	-1.0215	9	0.22109	T	0.4	.	4.2653	0.10761	0.2599:0.0:0.4452:0.2949	.	977;967	Q8N1T3;F5H3C6	MYO1H_HUMAN;.	I	967;977;158	ENSP00000439182:V967I;ENSP00000444076:V977I	ENSP00000439182:V967I	V	+	1	0	MYO1H	108366671	0.000000	0.05858	0.793000	0.32043	0.873000	0.50193	0.003000	0.13083	0.321000	0.23259	-0.140000	0.14226	GTC	MYO1H	-	pfam_Myosin_tail_2	ENSG00000174527		0.423	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		492	0.20	1	G	NM_173597		109882288	109882288	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	missense	325	37.31	194	SNP	0.942	A
MYO9A	4649	genome.wustl.edu	37	15	72197349	72197349	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:72197349T>C	ENST00000356056.5	-	20	3158		c.e20-2		MYO9A_ENST00000563542.1_Splice_Site|MYO9A_ENST00000566885.1_Splice_Site|MYO9A_ENST00000444904.1_Splice_Site|MYO9A_ENST00000424560.1_Splice_Site|MYO9A_ENST00000564571.1_Splice_Site	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TAATGATGCCTGCAACAGAAA	0.308																																						dbGAP											0													121.0	115.0	117.0					15																	72197349		2198	4297	6495	-	-	-	SO:0001630	splice_region_variant	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2686-2A>G	15.37:g.72197349T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Splice_Site	SNP	-	e19-2	ENST00000356056.5	37	c.2686-2	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000784	0.54254	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0059	0.71513	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO9A	69984403	1.000000	0.71417	0.986000	0.45419	0.479000	0.33129	7.407000	0.80029	2.138000	0.66242	0.533000	0.62120	.	MYO9A	-	-	ENSG00000066933		0.308	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	352	0.00	0	T	NM_006901	Intron	72197349	72197349	-1	no_errors	ENST00000424560	ensembl	human	known	69_37n	splice_site	239	37.76	145	SNP	1.000	C
MYO9B	4650	genome.wustl.edu	37	19	17305621	17305621	+	Missense_Mutation	SNP	C	C	T	rs374746020		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:17305621C>T	ENST00000594824.1	+	22	3532	c.3385C>T	c.(3385-3387)Ccc>Tcc	p.P1129S	MYO9B_ENST00000397274.2_Missense_Mutation_p.P1129S|MYO9B_ENST00000595618.1_Missense_Mutation_p.P1129S			Q13459	MYO9B_HUMAN	myosin IXB	1129	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACTCTCCCACCCCAGAAAAC	0.622																																						dbGAP											0													36.0	45.0	42.0					19																	17305621		2120	4251	6371	-	-	-	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3385C>T	19.37:g.17305621C>T	ENSP00000471367:p.Pro1129Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.P1129S	ENST00000594824.1	37	c.3385		19	.	.	.	.	.	.	.	.	.	.	C	5.031	0.191375	0.09547	.	.	ENSG00000099331	ENST00000397274	D	0.83673	-1.75	4.89	-9.77	0.00500	.	1.139450	0.06520	N	0.739459	T	0.61739	0.2371	N	0.19112	0.55	0.09310	N	0.999991	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.46721	-0.9171	10	0.28530	T	0.3	.	3.3163	0.07034	0.0848:0.2096:0.2979:0.4077	.	1129;1129;1135	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1129	ENSP00000380444:P1129S	ENSP00000380444:P1129S	P	+	1	0	MYO9B	17166621	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.531000	0.02219	-2.230000	0.00719	-0.258000	0.10820	CCC	MYO9B	-	NULL	ENSG00000099331		0.622	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	84	0.00	0	C			17305621	17305621	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	63	31.52	29	SNP	0.000	T
MYO9B	4650	genome.wustl.edu	37	19	17309065	17309065	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:17309065G>A	ENST00000594824.1	+	24	4333	c.4186G>A	c.(4186-4188)Gca>Aca	p.A1396T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1396T|MYO9B_ENST00000595618.1_Missense_Mutation_p.A1396T			Q13459	MYO9B_HUMAN	myosin IXB	1396	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAGGCGACGCATCCTCCCT	0.622																																						dbGAP											0													71.0	87.0	82.0					19																	17309065		2038	4177	6215	-	-	-	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4186G>A	19.37:g.17309065G>A	ENSP00000471367:p.Ala1396Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.A1396T	ENST00000594824.1	37	c.4186		19	.	.	.	.	.	.	.	.	.	.	G	8.274	0.814054	0.16537	.	.	ENSG00000099331	ENST00000397274	D	0.84223	-1.82	4.74	-4.53	0.03462	.	2.071040	0.02412	N	0.081735	T	0.64327	0.2588	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.56577	-0.7956	10	0.12430	T	0.62	.	2.2487	0.04038	0.2716:0.3905:0.2247:0.1132	.	1396;1396;1402	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	1396	ENSP00000380444:A1396T	ENSP00000380444:A1396T	A	+	1	0	MYO9B	17170065	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.896000	0.04114	-0.346000	0.08312	0.491000	0.48974	GCA	MYO9B	-	NULL	ENSG00000099331		0.622	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	138	0.72	1	G			17309065	17309065	+1	no_errors	ENST00000397274	ensembl	human	known	69_37n	missense	98	35.06	54	SNP	0.001	A
MYSM1	114803	genome.wustl.edu	37	1	59156023	59156023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:59156023delT	ENST00000472487.1	-	4	324	c.285delA	c.(283-285)aaafs	p.K95fs	MYSM1_ENST00000493821.1_5'Flank	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	95					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCTTCATGTATTTTTTATCAT	0.279																																						dbGAP											0													80.0	72.0	75.0					1																	59156023		1781	4049	5830	-	-	-	SO:0001589	frameshift_variant	0			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.285delA	1.37:g.59156023delT	ENSP00000418734:p.Lys95fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Frame_Shift_Del	DEL	pfam_SWIRM,pfam_JAB1_Mov34_MPN_PAD1,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB1_Mov34_MPN_PAD1,pfscan_SWIRM,pfscan_Myb-like_dom	p.K95fs	ENST00000472487.1	37	c.285	CCDS41343.1	1																																																																																			MYSM1	-	NULL	ENSG00000162601		0.279	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	251	0.00	0	T	XM_055481		59156023	59156023	-1	no_errors	ENST00000472487	ensembl	human	known	69_37n	frame_shift_del	198	33.99	103	DEL	0.822	-
NAA16	79612	genome.wustl.edu	37	13	41885599	41885599	+	5'UTR	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:41885599C>T	ENST00000379406.3	+	0	259				NAA16_ENST00000379367.3_5'UTR|NAA16_ENST00000403412.3_5'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit						N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GGTGCCCACCCCCGCGAAGCG	0.677																																						dbGAP											0													7.0	11.0	9.0					13																	41885599		677	1561	2238	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.-66C>T	13.37:g.41885599C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	RNA	SNP	-	NULL	ENST00000379406.3	37	NULL	CCDS9379.1	13																																																																																			NAA16	-	-	ENSG00000172766		0.677	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	10	0.00	0	C	NM_018527		41885599	41885599	+1	no_errors	ENST00000476980	ensembl	human	known	69_37n	rna	12	29.41	5	SNP	0.001	T
NAA25	80018	genome.wustl.edu	37	12	112485490	112485490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:112485490delA	ENST00000261745.4	-	17	2233	c.1985delT	c.(1984-1986)ttcfs	p.F662fs		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	662						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATCCCAGCTGAAAAAAACATT	0.348																																						dbGAP											0													202.0	215.0	211.0					12																	112485490		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1985delT	12.37:g.112485490delA	ENSP00000261745:p.Phe662fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Del	DEL	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.F662fs	ENST00000261745.4	37	c.1985	CCDS9159.1	12																																																																																			NAA25	-	NULL	ENSG00000111300		0.348	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	441	0.00	0	A	NM_024953		112485490	112485490	-1	no_errors	ENST00000261745	ensembl	human	known	69_37n	frame_shift_del	233	39.23	153	DEL	1.000	-
NADSYN1	55191	genome.wustl.edu	37	11	71185449	71185449	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:71185449G>A	ENST00000319023.2	+	9	863	c.675G>A	c.(673-675)ggG>ggA	p.G225G	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	225	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGAACGGTGGGATTTACTTGC	0.582																																					Ovarian(79;763 1781 6490 50276)	dbGAP											0													99.0	89.0	92.0					11																	71185449		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.675G>A	11.37:g.71185449G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.G192E	ENST00000319023.2	37	c.575	CCDS8201.1	11																																																																																			NADSYN1	-	superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000172890		0.582	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	168	0.00	0	G	NM_018161		71185449	71185449	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525200	ensembl	human	known	69_37n	missense	107	40.88	74	SNP	0.863	A
NARS	4677	genome.wustl.edu	37	18	55287867	55287867	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:55287867A>G	ENST00000256854.5	-	2	482	c.27T>C	c.(25-27)tcT>tcC	p.S9S	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	9					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CCTCTCGGTCAGAGACGTACA	0.418																																						dbGAP											0													156.0	145.0	149.0					18																	55287867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.27T>C	18.37:g.55287867A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG16|Q53GU6	Silent	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-synth_IIb	p.S9	ENST00000256854.5	37	c.27	CCDS32837.1	18																																																																																			NARS	-	NULL	ENSG00000134440		0.418	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS	HGNC	protein_coding	OTTHUMT00000449872.2	411	0.00	0	A	NM_004539		55287867	55287867	-1	no_errors	ENST00000256854	ensembl	human	known	69_37n	silent	272	37.04	160	SNP	0.021	G
NCAN	1463	genome.wustl.edu	37	19	19360666	19360666	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:19360666A>G	ENST00000252575.6	+	15	4011	c.3912A>G	c.(3910-3912)aaA>aaG	p.K1304K	NCAN_ENST00000538881.1_Silent_p.K755K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1304					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AGCGCAGAAAACACAAGAAAC	0.542																																						dbGAP											0													402.0	310.0	341.0					19																	19360666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3912A>G	19.37:g.19360666A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPK6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.N158S	ENST00000252575.6	37	c.473	CCDS12397.1	19																																																																																			NCAN	-	NULL	ENSG00000130287		0.542	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	1175	0.08	1	A	NM_004386		19360666	19360666	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588231	ensembl	human	novel	69_37n	missense	743	36.10	422	SNP	1.000	G
NCKAP1L	3071	genome.wustl.edu	37	12	54910761	54910761	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:54910761A>G	ENST00000293373.6	+	11	1159	c.1080A>G	c.(1078-1080)ggA>ggG	p.G360G	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Silent_p.G310G	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	360					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGAACCGGGACTACTGGGTC	0.507																																						dbGAP											0													127.0	119.0	121.0					12																	54910761		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1080A>G	12.37:g.54910761A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUT5|Q52LW0	Silent	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.G360	ENST00000293373.6	37	c.1080	CCDS31813.1	12																																																																																			NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.507	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	409	0.24	1	A	NM_005337		54910761	54910761	+1	no_errors	ENST00000293373	ensembl	human	known	69_37n	silent	271	41.33	193	SNP	1.000	G
NCOA7	135112	genome.wustl.edu	37	6	126243864	126243864	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:126243864C>A	ENST00000368357.3	+	14	2759	c.2407C>A	c.(2407-2409)Cca>Aca	p.P803T	NCOA7_ENST00000229634.9_Missense_Mutation_p.P688T|NCOA7_ENST00000392477.2_Missense_Mutation_p.P803T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	803					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GCAAGGGTATCCATGGAGACT	0.512																																						dbGAP											0													140.0	117.0	125.0					6																	126243864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2407C>A	6.37:g.126243864C>A	ENSP00000357341:p.Pro803Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.P803T	ENST00000368357.3	37	c.2407	CCDS5132.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.712531|4.712531	0.89112|0.89112	.|.	.|.	ENSG00000111912|ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353|ENST00000448104;ENST00000438495;ENST00000444128	T;T;T;T|.	0.28666|.	2.75;2.75;2.77;1.6|.	5.85|5.85	5.85|5.85	0.93711|0.93711	TLDc (1);|.	0.051948|.	0.85682|.	D|.	0.000000|.	T|T	0.74496|0.74496	0.3724|0.3724	M|M	0.79011|0.79011	2.435|2.435	0.58432|0.58432	D|D	0.999997|0.999997	D;B;D;D|.	0.89917|.	0.995;0.06;1.0;1.0|.	P;B;D;D|.	0.79108|.	0.82;0.097;0.992;0.982|.	T|T	0.73363|0.73363	-0.4006|-0.4006	10|5	0.62326|.	D|.	0.03|.	-4.85|-4.85	19.7574|19.7574	0.96299|0.96299	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	792;97;792;803|.	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08|.	.;.;.;NCOA7_HUMAN|.	T|Y	803;803;688;113;113|97	ENSP00000357341:P803T;ENSP00000376269:P803T;ENSP00000229634:P688T;ENSP00000411002:P113T|.	ENSP00000229634:P688T|.	P|S	+|+	1|2	0|0	NCOA7|NCOA7	126285557|126285557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.910000|4.910000	0.63321|0.63321	2.764000|2.764000	0.94973|0.94973	0.591000|0.591000	0.81541|0.81541	CCA|TCC	NCOA7	-	smart_TLDc	ENSG00000111912		0.512	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	220	0.00	0	C	XM_059748		126243864	126243864	+1	no_errors	ENST00000368357	ensembl	human	known	69_37n	missense	161	36.36	92	SNP	1.000	A
NDUFS2	4720	genome.wustl.edu	37	1	161182212	161182212	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:161182212C>A	ENST00000367993.3	+	11	1506	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	NDUFS2_ENST00000392179.4_Missense_Mutation_p.P353H|FCER1G_ENST00000367992.3_5'Flank|FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	353					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	AAGATGCCTCCTGGGGAGATC	0.537																																						dbGAP											0													101.0	83.0	89.0					1																	161182212		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1058C>A	1.37:g.161182212C>A	ENSP00000356972:p.Pro353His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	p.P353H	ENST00000367993.3	37	c.1058	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775420	0.70107	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.88741	-2.42;-2.42	4.86	4.86	0.63082	NADH-quinone oxidoreductase, subunit D (1);	0.371449	0.27673	N	0.018340	D	0.92057	0.7483	M	0.86651	2.83	0.42227	D	0.991875	P;P;P	0.42409	0.708;0.779;0.779	P;P;P	0.55545	0.778;0.726;0.726	D	0.93059	0.6472	9	0.56958	D	0.05	.	11.018	0.47701	0.2989:0.701:0.0:0.0	.	302;353;353	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	H	353	ENSP00000356972:P353H;ENSP00000376018:P353H	ENSP00000356972:P353H	P	+	2	0	NDUFS2	159448836	0.096000	0.21769	0.992000	0.48379	0.988000	0.76386	2.171000	0.42453	2.412000	0.81896	0.650000	0.86243	CCT	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NADH_DH_1_suD	ENSG00000158864		0.537	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	248	0.00	0	C	NM_004550		161182212	161182212	+1	no_errors	ENST00000367993	ensembl	human	known	69_37n	missense	473	16.87	96	SNP	0.859	A
NDUFS2	4720	genome.wustl.edu	37	1	161183875	161183875	+	Intron	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:161183875delT	ENST00000367993.3	+	15	1802				NDUFS2_ENST00000392179.4_3'UTR|FCER1G_ENST00000367992.3_5'Flank|FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GTAACACCACTTTTTTTGTTT	0.433																																						dbGAP											0													99.0	83.0	88.0					1																	161183875		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1355-71T>-	1.37:g.161183875delT		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	RNA	DEL	-	NULL	ENST00000367993.3	37	NULL	CCDS1224.1	1																																																																																			NDUFS2	-	-	ENSG00000158864		0.433	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	264	0.00	0	T	NM_004550		161183875	161183875	+1	no_errors	ENST00000465923	ensembl	human	known	69_37n	rna	460	14.05	76	DEL	0.012	-
NEK9	91754	genome.wustl.edu	37	14	75580950	75580950	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:75580950A>G	ENST00000238616.5	-	7	987	c.829T>C	c.(829-831)Tac>Cac	p.Y277H		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCCAAAGAGTACTGGCTAGAG	0.448																																						dbGAP											0													204.0	164.0	178.0					14																	75580950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.829T>C	14.37:g.75580950A>G	ENSP00000238616:p.Tyr277His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y277H	ENST00000238616.5	37	c.829	CCDS9839.1	14	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564274	0.86335	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	T	0.25250	1.81	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.69068	-0.5243	10	0.87932	D	0	.	15.2685	0.73681	1.0:0.0:0.0:0.0	.	277	Q8TD19	NEK9_HUMAN	H	277;259	ENSP00000238616:Y277H	ENSP00000238616:Y277H	Y	-	1	0	NEK9	74650703	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.962000	0.93254	2.011000	0.59026	0.260000	0.18958	TAC	NEK9	-	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	ENSG00000119638		0.448	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	352	0.00	0	A	NM_033116		75580950	75580950	-1	no_errors	ENST00000238616	ensembl	human	known	69_37n	missense	232	39.90	154	SNP	1.000	G
NET1	10276	genome.wustl.edu	37	10	5495005	5495005	+	Intron	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:5495005delT	ENST00000355029.4	+	6	736				NET1_ENST00000380359.3_Intron|NET1_ENST00000542715.1_Intron	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GGTGAATACATTTTTTTTAGG	0.279																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.594+122T>-	10.37:g.5495005delT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12773|Q96D82|Q99903|Q9UEN6	RNA	DEL	-	NULL	ENST00000355029.4	37	NULL	CCDS41483.1	10																																																																																			NET1	-	-	ENSG00000173848		0.279	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3	33	0.00	0	T	NM_005863		5495005	5495005	+1	no_errors	ENST00000465087	ensembl	human	known	69_37n	rna	19	34.48	10	DEL	0.000	-
NEURL2	140825	genome.wustl.edu	37	20	44518963	44518963	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:44518963G>A	ENST00000372518.4	-	1	963	c.668C>T	c.(667-669)gCg>gTg	p.A223V	CTSA_ENST00000372459.2_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000354880.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	223	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GAGGGGCTGCGCAGCTGGCAG	0.652											OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													27.0	30.0	29.0					20																	44518963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.668C>T	20.37:g.44518963G>A	ENSP00000361596:p.Ala223Val	Somatic	924	WXS	Illumina GAIIx	Phase_IV	Q3KR34	Missense_Mutation	SNP	pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C	p.A223V	ENST00000372518.4	37	c.668	CCDS13384.1	20	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706928	0.30232	.	.	ENSG00000124257	ENST00000372518	T	0.46819	0.86	4.83	4.83	0.62350	NEUZ (1);	0.416882	0.27581	N	0.018739	T	0.41994	0.1183	L	0.39898	1.24	0.33589	D	0.600842	B	0.13145	0.007	B	0.06405	0.002	T	0.48864	-0.8997	10	0.33940	T	0.23	-11.0388	18.1275	0.89590	0.0:0.0:1.0:0.0	.	223	Q9BR09	NEUL2_HUMAN	V	223	ENSP00000361596:A223V	ENSP00000361596:A223V	A	-	2	0	NEURL2	43952370	0.053000	0.20554	0.984000	0.44739	0.128000	0.20619	1.169000	0.31871	2.514000	0.84764	0.561000	0.74099	GCG	NEURL2	-	pfscan_Neu_Z	ENSG00000124257		0.652	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL2	HGNC	protein_coding	OTTHUMT00000079539.2	31	0.00	0	G			44518963	44518963	-1	no_errors	ENST00000372518	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.720	A
NF1	4763	genome.wustl.edu	37	17	29592336	29592336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:29592336delT	ENST00000358273.4	+	36	5197	c.4814delT	c.(4813-4815)attfs	p.I1605fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.I1584fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1605	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.		I -> V (in NF1; reduces protein stability; dbSNP:rs199474766). {ECO:0000269|PubMed:10712197}.		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.?(4)	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)		GGGAATCCTATTTTTTATTAT	0.328			"""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	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											58.0	59.0	59.0					17																	29592336		2202	4298	6500	-	-	-	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.4814delT	17.37:g.29592336delT	ENSP00000351015:p.Ile1605fs	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.Y1607fs	ENST00000358273.4	37	c.4814	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000196712		0.328	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	134	0.00	0	T	NM_000267		29592336	29592336	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	frame_shift_del	48	53.85	56	DEL	1.000	-
NFASC	23114	genome.wustl.edu	37	1	204957854	204957854	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:204957854A>G	ENST00000401399.1	+	22	2886	c.2687A>G	c.(2686-2688)tAc>tGc	p.Y896C	NFASC_ENST00000338515.6_Missense_Mutation_p.Y1003C|NFASC_ENST00000404076.1_Missense_Mutation_p.Y982C|NFASC_ENST00000539706.1_Missense_Mutation_p.Y999C|NFASC_ENST00000338586.6_Missense_Mutation_p.Y1003C|NFASC_ENST00000367169.4_Missense_Mutation_p.Y896C|NFASC_ENST00000404907.1_Missense_Mutation_p.Y999C|NFASC_ENST00000339876.6_Missense_Mutation_p.Y896C|NFASC_ENST00000367170.4_Missense_Mutation_p.Y1003C|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367172.4_Missense_Mutation_p.Y1003C|NFASC_ENST00000360049.4_Missense_Mutation_p.Y999C|NFASC_ENST00000367171.4_Missense_Mutation_p.Y988C|NFASC_ENST00000513543.1_Missense_Mutation_p.Y999C			O94856	NFASC_HUMAN	neurofascin	904	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGTCACGCTACCGCTTTACC	0.577																																						dbGAP											0													100.0	91.0	94.0					1																	204957854		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2687A>G	1.37:g.204957854A>G	ENSP00000385637:p.Tyr896Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Y1003C	ENST00000401399.1	37	c.3008	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.207923|4.207923	0.79240|0.79240	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89343	.|-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.44902	.|D	.|0.000413	D|D	0.95720|0.95720	0.8608|0.8608	M|M	0.92738|0.92738	3.34|3.34	0.44985|0.44985	D|D	0.998006|0.998006	.|D;D;D;D;D;D;D;P;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.928;1.0	.|D;D;D;D;D;D;D;P;D	.|0.97110	.|1.0;0.991;0.999;1.0;0.998;0.999;1.0;0.614;0.999	D|D	0.96704|0.96704	0.9520|0.9520	5|10	.|0.87932	.|D	.|0	.|.	15.3917|15.3917	0.74751|0.74751	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1003;1014;999;1003;1003;896;988;896;999	.|O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.;.;.	A|C	866;128|1003;988;1003;1003;896;1003;1014;999;999;896;982;896;999;999;990	.|ENSP00000356140:Y1003C;ENSP00000356139:Y988C;ENSP00000356138:Y1003C;ENSP00000342128:Y1003C;ENSP00000344786:Y896C;ENSP00000343509:Y1003C;ENSP00000438614:Y999C;ENSP00000353154:Y999C;ENSP00000356137:Y896C;ENSP00000385676:Y982C;ENSP00000385637:Y896C;ENSP00000384061:Y999C;ENSP00000425908:Y999C;ENSP00000415031:Y990C	.|ENSP00000295776:Y1014C	T|Y	+|+	1|2	0|0	NFASC|NFASC	203224477|203224477	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	6.941000|6.941000	0.75922|0.75922	2.102000|2.102000	0.63906|0.63906	0.533000|0.533000	0.62120|0.62120	ACC|TAC	NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163531		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	90	0.00	0	A	NM_001005388		204957854	204957854	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	missense	144	19.46	36	SNP	1.000	G
NFASC	23114	genome.wustl.edu	37	1	204966377	204966377	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:204966377C>A	ENST00000401399.1	+	24	3061	c.2862C>A	c.(2860-2862)acC>acA	p.T954T	NFASC_ENST00000338515.6_Silent_p.T1061T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000339876.6_Silent_p.T954T|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000367172.4_Silent_p.T1061T|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Silent_p.T1046T|NFASC_ENST00000513543.1_Intron			O94856	NFASC_HUMAN	neurofascin	1061	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTGCTGCCACCACCGAAGCCA	0.597																																						dbGAP											0													161.0	210.0	195.0					1																	204966377		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2862C>A	1.37:g.204966377C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T1061	ENST00000401399.1	37	c.3183	CCDS53460.1	1																																																																																			NFASC	-	NULL	ENSG00000163531		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	614	0.00	0	C	NM_001005388		204966377	204966377	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	silent	953	17.84	207	SNP	1.000	A
NGLY1	55768	genome.wustl.edu	37	3	25761040	25761040	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:25761040C>T	ENST00000280700.5	-	12	2036	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.A584T|NGLY1_ENST00000396649.3_3'UTR|NGLY1_ENST00000428257.1_Missense_Mutation_p.A608T|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	626	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTTGCCAAGCGACATCACCA	0.388																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1876G>A	3.37:g.25761040C>T	ENSP00000280700:p.Ala626Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom	p.A626T	ENST00000280700.5	37	c.1876	CCDS33719.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589635	0.86851	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000308710;ENST00000417874	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	5.71	5.71	0.89125	Peptide N glycanase, PAW domain (1);Galactose-binding domain-like (1);	0.049556	0.85682	D	0.000000	D	0.98201	0.9405	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.72982	0.902;0.979;0.935	D	0.98050	1.0387	10	0.48119	T	0.1	-15.0976	19.8598	0.96779	0.0:1.0:0.0:0.0	.	584;608;626	B4DJE9;Q96IV0-2;Q96IV0	.;.;NGLY1_HUMAN	T	608;626;605;584	ENSP00000387430:A608T;ENSP00000280700:A626T;ENSP00000307980:A605T;ENSP00000389888:A584T	ENSP00000280700:A626T	A	-	1	0	NGLY1	25736044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.737000	0.47393	2.710000	0.92621	0.555000	0.69702	GCT	NGLY1	-	superfamily_Galactose-bd-like	ENSG00000151092		0.388	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGLY1	HGNC	protein_coding	OTTHUMT00000340832.2	327	0.00	0	C			25761040	25761040	-1	no_errors	ENST00000280700	ensembl	human	known	69_37n	missense	207	35.91	116	SNP	1.000	T
NHLRC2	374354	genome.wustl.edu	37	10	115614726	115614728	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:115614726_115614728delAGG	ENST00000369301.3	+	1	307_309	c.95_97delAGG	c.(94-99)caggag>cag	p.E33del	DCLRE1A_ENST00000361384.2_5'Flank|DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000369305.1_5'Flank	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	33										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GTTACCCAGCAGGAGAAGGACAG	0.675																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.95_97delAGG	10.37:g.115614726_115614728delAGG	ENSP00000358307:p.Glu33del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1H1|Q8N5A6	In_Frame_Del	DEL	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.E33in_frame_del	ENST00000369301.3	37	c.95_97	CCDS7585.1	10																																																																																			NHLRC2	-	NULL	ENSG00000196865		0.675	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1	85	0.00	0	AGG	NM_198514		115614726	115614728	+1	no_errors	ENST00000369301	ensembl	human	known	69_37n	in_frame_del	72	28.00	28	DEL	1.000:1.000:1.000	-
NHSL2	340527	genome.wustl.edu	37	X	71359752	71359752	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:71359752G>T	ENST00000373677.1	+	2	2518	c.1256G>T	c.(1255-1257)gGg>gTg	p.G419V	NHSL2_ENST00000535692.1_Missense_Mutation_p.G419V|NHSL2_ENST00000540800.1_Missense_Mutation_p.G785V|NHSL2_ENST00000510661.1_Missense_Mutation_p.G554V			Q5HYW2	NHSL2_HUMAN	NHS-like 2	419	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GATCTGTCTGGGATGAGTATC	0.498																																						dbGAP											0													120.0	89.0	100.0					X																	71359752		2203	4300	6503	-	-	-	SO:0001583	missense	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1256G>T	X.37:g.71359752G>T	ENSP00000362781:p.Gly419Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN94	Missense_Mutation	SNP	NULL	p.G785V	ENST00000373677.1	37	c.2354		X	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170203	0.38315	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.44482	1.54;0.94;0.92;0.94	5.93	5.93	0.95920	.	0.298426	0.32068	N	0.006639	T	0.53674	0.1811	L	0.51422	1.61	0.52501	D	0.999959	D;D;D	0.59357	0.973;0.985;0.985	P;P;P	0.59546	0.859;0.859;0.859	T	0.54984	-0.8211	10	0.66056	D	0.02	-13.9149	12.2341	0.54505	0.0:0.1663:0.8337:0.0	.	785;554;419	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	V	785;419;554;419	ENSP00000444617:G785V;ENSP00000362781:G419V;ENSP00000424079:G554V;ENSP00000444914:G419V	ENSP00000362781:G419V	G	+	2	0	NHSL2	71276477	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.795000	0.55499	2.506000	0.84524	0.600000	0.82982	GGG	NHSL2	-	NULL	ENSG00000204131		0.498	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	415	0.00	0	G	NM_001013627		71359752	71359752	+1	no_errors	ENST00000540800	ensembl	human	known	69_37n	missense	306	29.59	129	SNP	1.000	T
NID1	4811	genome.wustl.edu	37	1	236148736	236148736	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:236148736G>A	ENST00000264187.6	-	15	3080	c.2998C>T	c.(2998-3000)Cct>Tct	p.P1000S	NID1_ENST00000366595.3_Missense_Mutation_p.P867S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1000					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CCAATGGAAGGCTCAGTGATG	0.448																																						dbGAP											0													210.0	166.0	181.0					1																	236148736		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2998C>T	1.37:g.236148736G>A	ENSP00000264187:p.Pro1000Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.P1000S	ENST00000264187.6	37	c.2998	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742892	0.89573	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.28069	1.63;1.63	5.35	5.35	0.76521	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.51193	0.1660	M	0.68593	2.085	0.43292	D	0.99527	D;D	0.89917	1.0;0.991	P;P	0.62649	0.891;0.905	T	0.37888	-0.9686	10	0.19147	T	0.46	.	19.0551	0.93059	0.0:0.0:1.0:0.0	.	867;1000	P14543-2;P14543	.;NID1_HUMAN	S	1000;867	ENSP00000264187:P1000S;ENSP00000355554:P867S	ENSP00000264187:P1000S	P	-	1	0	NID1	234215359	1.000000	0.71417	0.996000	0.52242	0.753000	0.42808	7.778000	0.85637	2.523000	0.85059	0.650000	0.86243	CCT	NID1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000116962		0.448	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	330	0.00	0	G	NM_002508		236148736	236148736	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	missense	659	14.36	111	SNP	1.000	A
NID1	4811	genome.wustl.edu	37	1	236157147	236157147	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:236157147G>A	ENST00000264187.6	-	13	2635	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	NID1_ENST00000366595.3_Silent_p.H718H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	851	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GTTCTCGCTCGTGCTGGCACC	0.627																																						dbGAP											0													28.0	29.0	29.0					1																	236157147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2553C>T	1.37:g.236157147G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.H851	ENST00000264187.6	37	c.2553	CCDS1608.1	1																																																																																			NID1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000116962		0.627	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	34	0.00	0	G	NM_002508		236157147	236157147	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	silent	54	14.29	9	SNP	0.000	A
NINJ1	4814	genome.wustl.edu	37	9	95888858	95888858	+	Silent	SNP	G	G	A	rs538594312		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:95888858G>A	ENST00000375446.4	-	2	208	c.138C>T	c.(136-138)agC>agT	p.S46S	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	46					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						TCTCGGCTGCGCTCTTCTTGC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15865	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													98.0	80.0	86.0					9																	95888858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"""nerve injury-induced protein-1"""	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.138C>T	9.37:g.95888858G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	pfam_Ninjurin	p.S46	ENST00000375446.4	37	c.138	CCDS6703.1	9																																																																																			NINJ1	-	pfam_Ninjurin	ENSG00000131669		0.667	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ1	HGNC	protein_coding	OTTHUMT00000053123.2	79	0.00	0	G	NM_004148		95888858	95888858	-1	no_errors	ENST00000375446	ensembl	human	known	69_37n	silent	54	30.77	24	SNP	0.936	A
NIPBL	25836	genome.wustl.edu	37	5	36976367	36976367	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:36976367T>C	ENST00000282516.8	+	9	1857	c.1358T>C	c.(1357-1359)gTa>gCa	p.V453A	NIPBL_ENST00000448238.2_Missense_Mutation_p.V453A|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	453	Gln-rich.				brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTTCTGTGGTACAGAATCAA	0.413																																						dbGAP											0													87.0	87.0	87.0					5																	36976367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1358T>C	5.37:g.36976367T>C	ENSP00000282516:p.Val453Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V453A	ENST00000282516.8	37	c.1358	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304071	0.23736	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93859	-3.3;-3.3	5.58	4.41	0.53225	.	0.227340	0.38492	N	0.001668	D	0.82554	0.5062	N	0.12182	0.205	0.30147	N	0.80343	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.69254	-0.5193	10	0.06236	T	0.91	.	8.5972	0.33723	0.0:0.1484:0.0:0.8516	.	453;453	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	453	ENSP00000282516:V453A;ENSP00000406266:V453A	ENSP00000282516:V453A	V	+	2	0	NIPBL	37012124	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.795000	0.26972	0.952000	0.37798	0.377000	0.23210	GTA	NIPBL	-	NULL	ENSG00000164190		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	186	0.00	0	T	NM_015384		36976367	36976367	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	missense	146	40.24	99	SNP	1.000	C
NIPBL	25836	genome.wustl.edu	37	5	36985083	36985083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:36985083delA	ENST00000282516.8	+	10	2300	c.1801delA	c.(1801-1803)aaafs	p.K603fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K603fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	603					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAGACACCTAAAAAAAAGTC	0.353																																						dbGAP											0													64.0	66.0	66.0					5																	36985083		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1801delA	5.37:g.36985083delA	ENSP00000282516:p.Lys603fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.K603fs	ENST00000282516.8	37	c.1801	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	156	0.64	1	A	NM_015384		36985083	36985083	+1	no_errors	ENST00000282516	ensembl	human	known	69_37n	frame_shift_del	140	29.76	61	DEL	1.000	-
NIT2	56954	genome.wustl.edu	37	3	100057981	100057981	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:100057981A>G	ENST00000394140.4	+	2	149	c.58A>G	c.(58-60)Aac>Gac	p.N20D		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	20	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CAAATCAGATAACGTCACTCG	0.483																																						dbGAP											0													172.0	170.0	171.0					3																	100057981		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.58A>G	3.37:g.100057981A>G	ENSP00000377696:p.Asn20Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.N20D	ENST00000394140.4	37	c.58	CCDS33806.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530074	0.85706	.	.	ENSG00000114021	ENST00000394140	D	0.90004	-2.6	5.21	5.21	0.72293	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	M	0.93763	3.455	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.97110	0.988;1.0	D	0.96956	0.9698	10	0.87932	D	0	0.0093	15.3709	0.74564	1.0:0.0:0.0:0.0	.	20;20	B7Z3F9;Q9NQR4	.;NIT2_HUMAN	D	20	ENSP00000377696:N20D	ENSP00000377696:N20D	N	+	1	0	NIT2	101540671	1.000000	0.71417	0.899000	0.35326	0.777000	0.43975	8.104000	0.89551	2.097000	0.63578	0.397000	0.26171	AAC	NIT2	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000114021		0.483	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT2	HGNC	protein_coding	OTTHUMT00000353142.2	334	0.00	0	A	NM_020202		100057981	100057981	+1	no_errors	ENST00000394140	ensembl	human	known	69_37n	missense	254	34.87	136	SNP	0.997	G
NKX2-5	1482	genome.wustl.edu	37	5	172659767	172659767	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:172659767G>A	ENST00000329198.4	-	2	1053	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	260	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCGCGCCGCCGTAACCCG	0.692																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	dbGAP											0													9.0	12.0	11.0					5																	172659767		2128	4191	6319	-	-	-	SO:0001819	synonymous_variant	0			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.780C>T	5.37:g.172659767G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3K0|B4DNB6|E9PBU6	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.G260	ENST00000329198.4	37	c.780	CCDS4387.1	5																																																																																			NKX2-5	-	NULL	ENSG00000183072		0.692	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	HGNC	protein_coding	OTTHUMT00000252942.2	15	0.00	0	G			172659767	172659767	-1	no_errors	ENST00000329198	ensembl	human	known	69_37n	silent	9	35.71	5	SNP	0.001	A
NLGN3	54413	genome.wustl.edu	37	X	70375090	70375090	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:70375090G>A	ENST00000358741.3	+	5	907	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	NLGN3_ENST00000374051.3_Missense_Mutation_p.V182I|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.V162I	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	202					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGCTAAACCCGTCATGGTCTA	0.587																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													191.0	121.0	144.0					X																	70375090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.604G>A	X.37:g.70375090G>A	ENSP00000351591:p.Val202Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.V202I	ENST00000358741.3	37	c.604	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756938	0.89843	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.93400	0.7895	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76071	0.983;0.987;0.941	D	0.95449	0.8532	10	0.87932	D	0	.	16.4607	0.84044	0.0:0.0:1.0:0.0	.	162;162;182	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	I	162;65;182;162;202	ENSP00000445298:V162I;ENSP00000363163:V182I;ENSP00000379196:V162I;ENSP00000351591:V202I	ENSP00000351591:V202I	V	+	1	0	NLGN3	70291815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.054000	0.61138	0.544000	0.68410	GTC	NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.587	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	269	0.74	2	G	NM_018977		70375090	70375090	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	missense	167	39.05	107	SNP	1.000	A
NLRP11	204801	genome.wustl.edu	37	19	56320345	56320345	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:56320345G>T	ENST00000589093.1	-	3	1724	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	NLRP11_ENST00000589824.2_Missense_Mutation_p.P544H|NLRP11_ENST00000360133.3_Missense_Mutation_p.P544H|NLRP11_ENST00000443188.1_Missense_Mutation_p.P544H|NLRP11_ENST00000592953.1_Missense_Mutation_p.P445H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	544							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)		GTAAAACAAAGGCATATGGTG	0.443																																						dbGAP											0													157.0	146.0	150.0					19																	56320345		2203	4300	6503	-	-	-	SO:0001583	missense	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.1631C>A	19.37:g.56320345G>T	ENSP00000466285:p.Pro544His	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P544H	ENST00000589093.1	37	c.1631	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674608	0.29693	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53206	0.63;0.63	2.05	2.05	0.26809	Copper type II, ascorbate-dependent monooxygenase, histidine-cluster-1 conserved site (1);	.	.	.	.	T	0.32164	0.0820	N	0.08118	0	0.09310	N	1	P;P	0.41214	0.626;0.742	B;P	0.46110	0.401;0.504	T	0.13019	-1.0525	9	0.52906	T	0.07	.	7.6464	0.28323	0.0:0.0:1.0:0.0	.	544;544	P59045;P59045-2	NAL11_HUMAN;.	H	544	ENSP00000409898:P544H;ENSP00000353251:P544H	ENSP00000353251:P544H	P	-	2	0	NLRP11	61012157	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.659000	0.24994	1.453000	0.47775	0.650000	0.86243	CCT	NLRP11	-	NULL	ENSG00000179873		0.443	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	233	0.00	0	G	NM_145007		56320345	56320345	-1	no_errors	ENST00000443188	ensembl	human	known	69_37n	missense	120	37.63	73	SNP	0.001	T
NMT1	4836	genome.wustl.edu	37	17	43175768	43175768	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:43175768G>T	ENST00000592782.1	+	8	863	c.732G>T	c.(730-732)gaG>gaT	p.E244D	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.E244D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	244					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AGATGGTAGAGATCAACTTCC	0.517																																						dbGAP											0													147.0	150.0	149.0					17																	43175768		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.732G>T	17.37:g.43175768G>T	ENSP00000468424:p.Glu244Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E244D	ENST00000592782.1	37	c.732	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601810	0.66445	.	.	ENSG00000136448	ENST00000258960	T	0.54279	0.58	5.23	2.2	0.27929	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);Myristoyl-CoA:protein N-myristoyltransferase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.84846	2.72	0.58432	D	0.999999	B	0.28470	0.213	B	0.38755	0.281	T	0.58405	-0.7642	10	0.49607	T	0.09	-28.376	9.2733	0.37684	0.2883:0.0:0.7117:0.0	.	244	P30419	NMT1_HUMAN	D	244	ENSP00000258960:E244D	ENSP00000258960:E244D	E	+	3	2	NMT1	40531294	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	1.498000	0.35660	0.371000	0.24564	-0.140000	0.14226	GAG	NMT1	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.517	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	198	0.00	0	G	NM_021079		43175768	43175768	+1	no_errors	ENST00000258960	ensembl	human	known	69_37n	missense	43	57.84	59	SNP	1.000	T
NOP14	8602	genome.wustl.edu	37	4	2952780	2952780	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:2952780delA	ENST00000314262.6	-	7	1051				NOP14_ENST00000416614.2_Intron|NOP14_ENST00000502735.1_Intron|NOP14_ENST00000398071.4_Intron|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AATGAATACCAAAAAAATGTT	0.294																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1002+60T>-	4.37:g.2952780delA		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	RNA	DEL	-	NULL	ENST00000314262.6	37	NULL	CCDS33945.1	4																																																																																			NOP14-AS1	-	-	ENSG00000249673		0.294	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14-AS1	HGNC	protein_coding	OTTHUMT00000358135.2	61	0.00	0	A	NM_003703		2952780	2952780	+1	no_errors	ENST00000515194	ensembl	human	known	69_37n	rna	36	37.70	23	DEL	0.000	-
NOTCH1	4851	genome.wustl.edu	37	9	139393655	139393655	+	Silent	SNP	C	C	T	rs577642121		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139393655C>T	ENST00000277541.6	-	32	6066	c.5991G>A	c.(5989-5991)acG>acA	p.T1997T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1997					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGATCAGTGGCGTCGTGCCAT	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17620	0.001		0.0	False		,,,				2504	0.0					dbGAP		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													61.0	66.0	65.0					9																	139393655		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5991G>A	9.37:g.139393655C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59ED8|Q5SXM3	Silent	SNP	pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_1,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.T1997	ENST00000277541.6	37	c.5991	CCDS43905.1	9																																																																																			NOTCH1	-	pirsf_Notch,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148400		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	121	0.00	0	C	NM_017617		139393655	139393655	-1	no_errors	ENST00000277541	ensembl	human	known	69_37n	silent	61	38.83	40	SNP	0.006	T
NOTCH3	4854	genome.wustl.edu	37	19	15272336	15272337	+	Frame_Shift_Ins	INS	-	-	G	rs114887570	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:15272336_15272337insG	ENST00000263388.2	-	33	6177_6178	c.6102_6103insC	c.(6100-6105)cccggtfs	p.G2035fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2035					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGTGGGGACCGGGGGGGCTGC	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6103dupC	19.37:g.15272343_15272343dupG	ENSP00000263388:p.Gly2035fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Ins	INS	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.G2034fs	ENST00000263388.2	37	c.6103_6102	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch	ENSG00000074181		0.708	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	32	0.00	0	-	NM_000435		15272336	15272337	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	frame_shift_ins	18	48.57	17	INS	0.958:0.235	G
NOVA2	4858	genome.wustl.edu	37	19	46464289	46464289	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:46464289T>C	ENST00000263257.5	-	2	402	c.208A>G	c.(208-210)Aag>Gag	p.K70E		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	70	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCTTTGGACTTGGAGAGCTTG	0.657																																						dbGAP											0													50.0	50.0	50.0					19																	46464289		2198	4295	6493	-	-	-	SO:0001583	missense	0			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.208A>G	19.37:g.46464289T>C	ENSP00000263257:p.Lys70Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43267|Q9UEA1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.K70E	ENST00000263257.5	37	c.208	CCDS12679.1	19	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415138	0.62511	.	.	ENSG00000104967	ENST00000263257	T	0.28454	1.61	4.85	2.5	0.30297	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.130583	0.51477	D	0.000092	T	0.38983	0.1061	L	0.48218	1.51	0.49389	D	0.999786	D	0.54397	0.966	P	0.58820	0.846	T	0.07028	-1.0794	10	0.35671	T	0.21	-13.1822	9.7954	0.40731	0.0:0.0:0.329:0.671	.	70	Q9UNW9	NOVA2_HUMAN	E	70	ENSP00000263257:K70E	ENSP00000263257:K70E	K	-	1	0	NOVA2	51156129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.741000	0.68638	0.777000	0.33496	0.363000	0.22086	AAG	NOVA2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000104967		0.657	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	HGNC	protein_coding	OTTHUMT00000437210.2	163	0.00	0	T	NM_002516		46464289	46464289	-1	no_errors	ENST00000263257	ensembl	human	known	69_37n	missense	110	30.63	49	SNP	1.000	C
NPAS2	4862	genome.wustl.edu	37	2	101594239	101594239	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:101594239G>A	ENST00000335681.5	+	15	1745	c.1460G>A	c.(1459-1461)aGc>aAc	p.S487N	NPAS2_ENST00000542504.1_Missense_Mutation_p.S552N|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000433012.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	487					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTCTGCAGAGCACGCCCGCT	0.622																																						dbGAP											0													93.0	91.0	92.0					2																	101594239		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1460G>A	2.37:g.101594239G>A	ENSP00000338283:p.Ser487Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS	p.S552N	ENST00000335681.5	37	c.1655	CCDS2048.1	2	.	.	.	.	.	.	.	.	.	.	G	4.928	0.172399	0.09391	.	.	ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000450763	T;T;T	0.32988	3.43;3.39;1.43	5.69	0.727	0.18254	.	1.873080	0.02153	N	0.058176	T	0.26919	0.0659	L	0.41236	1.265	0.27845	N	0.94097	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.002	T	0.16217	-1.0410	10	0.38643	T	0.18	.	5.5793	0.17241	0.2793:0.2421:0.4787:0.0	.	552;487;487	F5H027;A0PJF9;Q99743	.;.;NPAS2_HUMAN	N	487;552;86	ENSP00000338283:S487N;ENSP00000438428:S552N;ENSP00000392125:S86N	ENSP00000338283:S487N	S	+	2	0	NPAS2	100960671	0.843000	0.29541	0.124000	0.21820	0.023000	0.10783	1.075000	0.30716	-0.146000	0.11274	-0.136000	0.14681	AGC	NPAS2	-	NULL	ENSG00000170485		0.622	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	186	0.00	0	G			101594239	101594239	+1	no_errors	ENST00000542504	ensembl	human	known	69_37n	missense	124	35.08	67	SNP	0.462	A
NPHP1	4867	genome.wustl.edu	37	2	110902119	110902119	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:110902119A>G	ENST00000393272.3	-	15	1642	c.1545T>C	c.(1543-1545)ggT>ggC	p.G515G	NPHP1_ENST00000445609.2_Silent_p.G460G|NPHP1_ENST00000355301.4_Silent_p.G397G|NPHP1_ENST00000417665.1_Silent_p.G459G|NPHP1_ENST00000316534.4_Silent_p.G516G	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	515					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATAAGGAGTACCACCATTCA	0.348																																						dbGAP											0													92.0	87.0	89.0					2																	110902119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1545T>C	2.37:g.110902119A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O14837	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.G516	ENST00000393272.3	37	c.1548	CCDS46385.1	2																																																																																			NPHP1	-	NULL	ENSG00000144061		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	188	0.00	0	A	NM_000272		110902119	110902119	-1	no_errors	ENST00000316534	ensembl	human	known	69_37n	silent	178	32.58	86	SNP	0.985	G
NPL	80896	genome.wustl.edu	37	1	182791267	182791268	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:182791267_182791268insA	ENST00000367553.1	+	10	715_716	c.671_672insA	c.(670-675)ggaaaafs	p.GK224fs	NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367555.1_Intron|NPL_ENST00000367554.3_Frame_Shift_Ins_p.GK205fs|NPL_ENST00000367552.2_Intron|NPL_ENST00000258317.2_Frame_Shift_Ins_p.GK224fs	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	224					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTACCTGGGAAAAAAGACAA	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.677dupA	1.37:g.182791273_182791273dupA	ENSP00000356524:p.Gly224fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Frame_Shift_Ins	INS	pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like	p.T227fs	ENST00000367553.1	37	c.671_672	CCDS1350.1	1																																																																																			NPL	-	pfam_Dihydrodipicolinate_synth-like	ENSG00000135838		0.396	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	403	0.00	0	-	NM_030769		182791267	182791268	+1	no_errors	ENST00000258317	ensembl	human	known	69_37n	frame_shift_ins	897	14.00	146	INS	1.000:0.993	A
NR5A2	2494	genome.wustl.edu	37	1	200014658	200014658	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:200014658C>T	ENST00000367362.3	+	4	655	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	NR5A2_ENST00000236914.3_Missense_Mutation_p.R91C|NR5A2_ENST00000544748.1_Missense_Mutation_p.R65C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	137					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ACAGAGAAAGCGTTGTCCTTA	0.358																																					Melanoma(179;1138 2773 15678 26136)	dbGAP											0													112.0	112.0	112.0					1																	200014658		2203	4300	6503	-	-	-	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.409C>T	1.37:g.200014658C>T	ENSP00000356331:p.Arg137Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R137C	ENST00000367362.3	37	c.409	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393418	0.83011	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	D;D;D	0.97598	-4.45;-4.45;-4.45	5.5	5.5	0.81552	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	M	0.87328	2.875	0.80722	D	1	D;D	0.64830	0.994;0.994	P;D	0.66351	0.883;0.943	D	0.98595	1.0656	9	.	.	.	.	14.5761	0.68249	0.1461:0.8539:0.0:0.0	.	91;137	F1D8R9;O00482	.;NR5A2_HUMAN	C	137;91;65;57	ENSP00000356331:R137C;ENSP00000236914:R91C;ENSP00000439116:R65C	.	R	+	1	0	NR5A2	198281281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.041000	0.49807	2.742000	0.94016	0.655000	0.94253	CGT	NR5A2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000116833		0.358	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	280	0.00	0	C			200014658	200014658	+1	no_errors	ENST00000367362	ensembl	human	known	69_37n	missense	508	12.56	73	SNP	1.000	T
NR5A2	2494	genome.wustl.edu	37	1	200143178	200143178	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:200143178A>G	ENST00000367362.3	+	8	1712	c.1466A>G	c.(1465-1467)tAc>tGc	p.Y489C	NR5A2_ENST00000236914.3_Missense_Mutation_p.Y443C|NR5A2_ENST00000544748.1_Missense_Mutation_p.Y417C	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	489					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATGTGTAACTACCCGCAGCAG	0.468																																					Melanoma(179;1138 2773 15678 26136)	dbGAP											0													54.0	48.0	50.0					1																	200143178		2203	4300	6503	-	-	-	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1466A>G	1.37:g.200143178A>G	ENSP00000356331:p.Tyr489Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Y489C	ENST00000367362.3	37	c.1466	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.233287	0.79688	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96940	-4.18;-4.18;-4.18	5.88	5.88	0.94601	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98948	1.0793	9	.	.	.	.	16.2965	0.82776	1.0:0.0:0.0:0.0	.	443;489	F1D8R9;O00482	.;NR5A2_HUMAN	C	489;443;417	ENSP00000356331:Y489C;ENSP00000236914:Y443C;ENSP00000439116:Y417C	.	Y	+	2	0	NR5A2	198409801	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.332000	0.96446	2.243000	0.73865	0.528000	0.53228	TAC	NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.468	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	75	0.00	0	A			200143178	200143178	+1	no_errors	ENST00000367362	ensembl	human	known	69_37n	missense	168	16.75	34	SNP	1.000	G
NRBP1	29959	genome.wustl.edu	37	2	27658018	27658018	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:27658018delC	ENST00000233557.3	+	8	1417	c.585delC	c.(583-585)gacfs	p.D195fs	NRBP1_ENST00000379863.3_Frame_Shift_Del_p.D195fs|NRBP1_ENST00000379852.3_Frame_Shift_Del_p.D195fs			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACTCCTGTGACCCCCCCATCA	0.587																																						dbGAP											0													97.0	84.0	89.0					2																	27658018		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.585delC	2.37:g.27658018delC	ENSP00000233557:p.Asp195fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	Frame_Shift_Del	DEL	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	p.I198fs	ENST00000233557.3	37	c.585	CCDS1753.1	2																																																																																			NRBP1	-	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	ENSG00000115216		0.587	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	333	0.00	0	C	NM_013392		27658018	27658018	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	frame_shift_del	249	33.42	128	DEL	1.000	-
NRP2	8828	genome.wustl.edu	37	2	206608157	206608157	+	Missense_Mutation	SNP	G	G	A	rs182060947	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:206608157G>A	ENST00000357785.5	+	9	1553	c.1522G>A	c.(1522-1524)Gga>Aga	p.G508R	NRP2_ENST00000412873.2_Missense_Mutation_p.G508R|NRP2_ENST00000357118.4_Missense_Mutation_p.G508R|NRP2_ENST00000360409.3_Missense_Mutation_p.G508R|NRP2_ENST00000540178.1_Missense_Mutation_p.G508R|NRP2_ENST00000417189.1_Missense_Mutation_p.G508R|NRP2_ENST00000272849.3_Missense_Mutation_p.G508R|NRP2_ENST00000355117.4_Missense_Mutation_p.G508R|NRP2_ENST00000540841.1_Missense_Mutation_p.G508R			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGGAGCCCGCGGAGGAGACAG	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		18756	0.001		0.0	False		,,,				2504	0.001					dbGAP											0													70.0	75.0	73.0					2																	206608157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1522G>A	2.37:g.206608157G>A	ENSP00000350432:p.Gly508Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.G508R	ENST00000357785.5	37	c.1522	CCDS46496.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.6	4.167380	0.78339	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98207	-4.79;-4.79;-4.79;-4.79;-4.79;-4.79;-4.79;-4.79;-4.79	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99010	0.9662	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.983;0.993;0.999;0.991;0.991;0.989	D	0.99790	1.1031	10	0.87932	D	0	-10.0915	20.3928	0.98949	0.0:0.0:1.0:0.0	.	508;508;508;508;508;508	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	R	508	ENSP00000353582:G508R;ENSP00000439658:G508R;ENSP00000439261:G508R;ENSP00000347238:G508R;ENSP00000387519:G508R;ENSP00000349632:G508R;ENSP00000350432:G508R;ENSP00000407626:G508R;ENSP00000272849:G508R	ENSP00000272849:G508R	G	+	1	0	NRP2	206316402	1.000000	0.71417	0.939000	0.37840	0.250000	0.25880	5.402000	0.66332	2.813000	0.96785	0.655000	0.94253	GGA	NRP2	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000118257		0.557	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	134	0.00	0	G			206608157	206608157	+1	no_errors	ENST00000360409	ensembl	human	known	69_37n	missense	75	42.75	56	SNP	0.999	A
NRXN2	9379	genome.wustl.edu	37	11	64390403	64390403	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:64390403C>T	ENST00000377551.1	-	20	4206	c.3995G>A	c.(3994-3996)cGg>cAg	p.R1332Q	NRXN2_ENST00000409571.1_Missense_Mutation_p.R1325Q|NRXN2_ENST00000265459.6_Missense_Mutation_p.R1332Q|NRXN2_ENST00000377559.3_Missense_Mutation_p.R1262Q|NRXN2_ENST00000301894.2_Missense_Mutation_p.R286Q			Q9P2S2	NRX2A_HUMAN	neurexin 2	1332	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ACCCTCAGTCCGCACATTGGG	0.701																																						dbGAP											0													39.0	33.0	35.0					11																	64390403		2199	4295	6494	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3995G>A	11.37:g.64390403C>T	ENSP00000366774:p.Arg1332Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1332Q	ENST00000377551.1	37	c.3995	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449216	0.26074	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.59906	0.96;0.23;0.23;0.23;0.33;0.96	4.18	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (2);	0.150880	0.27393	U	0.019564	T	0.28566	0.0707	N	0.04686	-0.185	0.40992	D	0.984862	B;B;B;B	0.26547	0.072;0.152;0.01;0.004	B;B;B;B	0.12156	0.007;0.005;0.0;0.0	T	0.17684	-1.0361	10	0.12103	T	0.63	.	8.0711	0.30689	0.0:0.8916:0.0:0.1084	.	1262;1332;1078;286	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	Q	286;1332;1262;1332;1262;1325;217	ENSP00000301894:R286Q;ENSP00000366774:R1332Q;ENSP00000366782:R1262Q;ENSP00000265459:R1332Q;ENSP00000386416:R1325Q;ENSP00000407374:R217Q	ENSP00000265459:R1332Q	R	-	2	0	NRXN2	64146979	0.901000	0.30685	1.000000	0.80357	0.993000	0.82548	1.582000	0.36568	2.334000	0.79466	0.561000	0.74099	CGG	NRXN2	-	pfscan_Laminin_G	ENSG00000110076		0.701	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	67	0.00	0	C	NM_015080		64390403	64390403	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	41	36.92	24	SNP	1.000	T
NRXN3	9369	genome.wustl.edu	37	14	79433691	79433691	+	Missense_Mutation	SNP	C	C	T	rs578189474		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:79433691C>T	ENST00000554719.1	+	10	2290	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	NRXN3_ENST00000335750.5_Missense_Mutation_p.T600I	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	191					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAGTGGACACCAAAGTGGTC	0.413																																						dbGAP											0													91.0	79.0	83.0					14																	79433691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1799C>T	14.37:g.79433691C>T	ENSP00000451648:p.Thr600Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.T962I	ENST00000554719.1	37	c.2885	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733159	0.89482	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.79247	-1.25;-1.25	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.174904	0.50627	D	0.000101	T	0.80884	0.4709	.	.	.	0.58432	D	0.999997	P;P	0.47302	0.893;0.857	P;B	0.47981	0.563;0.414	T	0.78692	-0.2105	8	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	973;600	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	I	973;962;600;600	ENSP00000451648:T600I;ENSP00000338349:T600I	.	T	+	2	0	NRXN3	78503444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	ACC	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.413	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	178	0.00	0	C	NM_001105250		79433691	79433691	+1	no_errors	ENST00000554738	ensembl	human	known	69_37n	missense	142	34.26	74	SNP	1.000	T
NSG1	27065	genome.wustl.edu	37	4	4389431	4389431	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:4389431T>C	ENST00000421177.2	+	6	2066	c.75T>C	c.(73-75)atT>atC	p.I25I	NSG1_ENST00000433139.2_Silent_p.I25I|NSG1_ENST00000513555.1_Silent_p.I25I|NSG1_ENST00000504171.1_Silent_p.I25I|NSG1_ENST00000505246.1_Silent_p.I25I|NSG1_ENST00000397958.1_Silent_p.I25I|NSG1_ENST00000506380.1_Silent_p.I25I			P42857	NSG1_HUMAN		25					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCGACACCATTCCCCTGATGA	0.632																																						dbGAP											0													86.0	80.0	82.0					4																	4389431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000421177.2:c.75T>C	4.37:g.4389431T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXC5|Q49AQ1	Silent	SNP	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	p.I25	ENST00000421177.2	37	c.75	CCDS3376.1	4																																																																																			NSG1	-	pfam_D1-dopamine_rcpt_interact,pirsf_D1-dopamine_rcpt_interact	ENSG00000168824		0.632	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSG1	Clone_based_vega_gene	protein_coding	OTTHUMT00000246799.1	56	0.00	0	T			4389431	4389431	+1	no_errors	ENST00000397958	ensembl	human	known	69_37n	silent	53	30.26	23	SNP	1.000	C
NSUN7	79730	genome.wustl.edu	37	4	40778217	40778217	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:40778217T>C	ENST00000381782.2	+	7	1472	c.977T>C	c.(976-978)gTa>gCa	p.V326A	NSUN7_ENST00000316607.5_Missense_Mutation_p.V326A	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	326							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GTGTGTGGAGTACAATCACAA	0.333																																						dbGAP											0													87.0	92.0	90.0					4																	40778217		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.977T>C	4.37:g.40778217T>C	ENSP00000371201:p.Val326Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.V326A	ENST00000381782.2	37	c.977	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	T	14.27	2.483884	0.44147	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.09911	2.93;2.93	5.74	4.57	0.56435	.	0.505564	0.21283	N	0.077102	T	0.11965	0.0291	L	0.50333	1.59	0.27007	N	0.964772	B;B	0.25048	0.117;0.026	B;B	0.27262	0.078;0.047	T	0.13683	-1.0500	10	0.31617	T	0.26	-9.002	11.1073	0.48210	0.0:0.0723:0.0:0.9277	.	326;326	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	A	326	ENSP00000371201:V326A;ENSP00000319127:V326A	ENSP00000319127:V326A	V	+	2	0	NSUN7	40472974	1.000000	0.71417	0.778000	0.31720	0.874000	0.50279	4.166000	0.58203	1.022000	0.39626	0.528000	0.53228	GTA	NSUN7	-	NULL	ENSG00000179299		0.333	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2	166	0.00	0	T	NM_024677		40778217	40778217	+1	no_errors	ENST00000381782	ensembl	human	known	69_37n	missense	107	40.00	72	SNP	0.962	C
NTMT1	28989	genome.wustl.edu	37	9	132395277	132395277	+	Intron	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:132395277C>A	ENST00000372486.1	+	2	511				NTMT1_ENST00000372480.1_Intron|NTMT1_ENST00000372481.3_Intron|NTMT1_ENST00000372483.4_Intron|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.L99I			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1						chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										ACCCCAAAGCCTTGAGGAGCT	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.162+133C>A	9.37:g.132395277C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4J2|A8K8G7|Q5SZB9|Q9UI28	RNA	SNP	-	NULL	ENST00000372486.1	37	NULL	CCDS35160.1	9																																																																																			NTMT1	-	-	ENSG00000148335		0.547	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NTMT1	HGNC	protein_coding	OTTHUMT00000054589.1	68	0.00	0	C	NM_014064		132395277	132395277	+1	no_errors	ENST00000459968	ensembl	human	known	69_37n	rna	24	38.46	15	SNP	0.017	A
NTN3	4917	genome.wustl.edu	37	16	2522741	2522741	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:2522741A>T	ENST00000293973.1	+	2	1171	c.968A>T	c.(967-969)aAc>aTc	p.N323I	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	323	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697																																						dbGAP											0													43.0	52.0	49.0					16																	2522741		2158	4249	6407	-	-	-	SO:0001583	missense	0			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.968A>T	16.37:g.2522741A>T	ENSP00000293973:p.Asn323Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.N323I	ENST00000293973.1	37	c.968	CCDS10469.1	16	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702076	0.48307	.	.	ENSG00000162068	ENST00000293973	T	0.64260	-0.09	4.52	4.52	0.55395	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.79475	2.455	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.80299	-0.1441	10	0.87932	D	0	.	11.8131	0.52194	1.0:0.0:0.0:0.0	.	323	O00634	NET3_HUMAN	I	323	ENSP00000293973:N323I	ENSP00000293973:N323I	N	+	2	0	NTN3	2462742	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.086000	0.94088	1.687000	0.51057	0.254000	0.18369	AAC	NTN3	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000162068		0.697	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1	18	0.00	0	A	NM_006181		2522741	2522741	+1	no_errors	ENST00000293973	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	T
NUDCD1	84955	genome.wustl.edu	37	8	110346160	110346163	+	Frame_Shift_Del	DEL	AGAG	AGAG	-	rs201844231		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AGAG	AGAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:110346160_110346163delAGAG	ENST00000239690.4	-	1	451_454	c.77_80delCTCT	c.(76-81)tctcttfs	p.SL26fs	ENY2_ENST00000520147.1_5'Flank|ENY2_ENST00000521662.1_5'Flank|ENY2_ENST00000521688.1_5'Flank	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGCGGCTCAAGAGAGAGCTTGTA	0.623																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.77_80delCTCT	8.37:g.110346164_110346167delAGAG	ENSP00000239690:p.Ser26fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.S26fs	ENST00000239690.4	37	c.80_77	CCDS6312.1	8																																																																																			NUDCD1	-	NULL	ENSG00000120526		0.623	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	72	0.00	0	AGAG	NM_032869		110346160	110346163	-1	no_errors	ENST00000239690	ensembl	human	known	69_37n	frame_shift_del	76	24.75	25	DEL	1.000:1.000:1.000:1.000	-
NUDT13	25961	genome.wustl.edu	37	10	74886455	74886455	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:74886455G>A	ENST00000357321.4	+	8	846	c.728G>A	c.(727-729)cGc>cAc	p.R243H	NUDT13_ENST00000372997.3_Missense_Mutation_p.A206T|NUDT13_ENST00000349051.5_Intron|NUDT13_ENST00000537969.1_Missense_Mutation_p.R46H|NUDT13_ENST00000488223.1_3'UTR|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000544879.1_Missense_Mutation_p.R117H|SNORA11_ENST00000408237.1_RNA	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13									p.R243H(1)		large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					GAGACCATCCGCCGAGAAGTT	0.512																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											205.0	164.0	178.0					10																	74886455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.728G>A	10.37:g.74886455G>A	ENSP00000349874:p.Arg243His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like	p.R243H	ENST00000357321.4	37	c.728	CCDS31220.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.40|15.40	2.823418|2.823418	0.50739|0.50739	.|.	.|.	ENSG00000166321|ENSG00000166321	ENST00000372997|ENST00000357321;ENST00000544879;ENST00000537969	T|T;T;T	0.30448|0.08807	1.53|3.05;3.05;3.05	6.08|6.08	3.27|3.27	0.37495|0.37495	.|NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	.|0.385185	.|0.32287	.|N	.|0.006303	T|T	0.08223|0.08223	0.0205|0.0205	L|L	0.37630|0.37630	1.12|1.12	0.23260|0.23260	N|N	0.998028|0.998028	B|B	0.17268|0.23650	0.021|0.089	B|B	0.06405|0.27170	0.002|0.077	T|T	0.25257|0.25257	-1.0137|-1.0137	9|10	0.46703|0.40728	T|T	0.11|0.16	.|.	11.2408|11.2408	0.48968|0.48968	0.1909:0.0:0.8091:0.0|0.1909:0.0:0.8091:0.0	.|.	206|243	Q5SQM6|Q86X67	.|NUD13_HUMAN	T|H	206|243;117;46	ENSP00000362088:A206T|ENSP00000349874:R243H;ENSP00000440760:R117H;ENSP00000438223:R46H	ENSP00000362088:A206T|ENSP00000349874:R243H	A|R	+|+	1|2	0|0	NUDT13|NUDT13	74556461|74556461	0.003000|0.003000	0.15002|0.15002	0.030000|0.030000	0.17652|0.17652	0.448000|0.448000	0.32197|0.32197	1.351000|1.351000	0.34022|0.34022	0.463000|0.463000	0.27118|0.27118	0.655000|0.655000	0.94253|0.94253	GCC|CGC	NUDT13	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000166321		0.512	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT13	HGNC	protein_coding	OTTHUMT00000048614.1	282	0.00	0	G	NM_015901		74886455	74886455	+1	no_errors	ENST00000357321	ensembl	human	known	69_37n	missense	221	28.71	89	SNP	0.273	A
NUP155	9631	genome.wustl.edu	37	5	37333695	37333695	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:37333695G>A	ENST00000231498.3	-	13	1591	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	NUP155_ENST00000513532.1_Missense_Mutation_p.A463V|NUP155_ENST00000381843.2_Missense_Mutation_p.A404V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	463					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCATCTATCGCAGAAAGAGC	0.323																																						dbGAP											0													75.0	73.0	74.0					5																	37333695		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1388C>T	5.37:g.37333695G>A	ENSP00000231498:p.Ala463Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.A463V	ENST00000231498.3	37	c.1388	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374230	0.61735	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.76968	-1.06;-1.05;-1.06	5.52	5.52	0.82312	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.103777	0.64402	D	0.000004	T	0.67306	0.2879	N	0.22421	0.69	0.51233	D	0.999917	B;B	0.24882	0.113;0.064	B;B	0.28916	0.067;0.096	T	0.62548	-0.6831	10	0.27082	T	0.32	-0.0046	15.0883	0.72174	0.0:0.0:0.8577:0.1423	.	463;463	E9PF10;O75694	.;NU155_HUMAN	V	463;404;425;463	ENSP00000231498:A463V;ENSP00000371265:A404V;ENSP00000422019:A463V	ENSP00000231498:A463V	A	-	2	0	NUP155	37369452	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.455000	0.80726	2.596000	0.87737	0.557000	0.71058	GCG	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N	ENSG00000113569		0.323	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	170	0.58	1	G	NM_153485, NM_004298		37333695	37333695	-1	no_errors	ENST00000231498	ensembl	human	known	69_37n	missense	138	31.34	63	SNP	1.000	A
NUP188	23511	genome.wustl.edu	37	9	131752485	131752485	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:131752485C>T	ENST00000372577.2	+	25	2641	c.2620C>T	c.(2620-2622)Ctg>Ttg	p.L874L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	874					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCCATTCAGCTGCTGAAACG	0.473																																						dbGAP											0													375.0	320.0	338.0					9																	131752485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2620C>T	9.37:g.131752485C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L874	ENST00000372577.2	37	c.2620	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	ENSG00000095319		0.473	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	308	0.00	0	C			131752485	131752485	+1	no_errors	ENST00000372577	ensembl	human	known	69_37n	silent	248	28.03	97	SNP	1.000	T
NUP54	53371	genome.wustl.edu	37	4	77053844	77053844	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:77053844G>A	ENST00000264883.3	-	6	879	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	NUP54_ENST00000515460.1_5'Flank|NUP54_ENST00000342467.6_Missense_Mutation_p.R67C|NUP54_ENST00000458189.2_Missense_Mutation_p.R67C|NUP54_ENST00000514987.1_Missense_Mutation_p.R199C	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	247	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTTGGCGAACGCTCAACAACA	0.373																																						dbGAP											0													114.0	104.0	107.0					4																	77053844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.739C>T	4.37:g.77053844G>A	ENSP00000264883:p.Arg247Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	NULL	p.R247C	ENST00000264883.3	37	c.739	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733373	0.69189	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	L	0.45581	1.43	0.80722	D	1	B;B;B	0.31413	0.322;0.198;0.322	B;B;B	0.24155	0.033;0.051;0.033	T	0.61471	-0.7056	9	0.87932	D	0	-0.1879	19.0156	0.92892	0.0:0.0:1.0:0.0	.	199;67;247	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	C	247;67;199;67	.	ENSP00000264883:R247C	R	-	1	0	NUP54	77272868	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.336000	0.96533	2.581000	0.87130	0.650000	0.86243	CGT	NUP54	-	NULL	ENSG00000138750		0.373	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	HGNC	protein_coding	OTTHUMT00000252402.3	287	0.35	1	G			77053844	77053844	-1	no_errors	ENST00000264883	ensembl	human	known	69_37n	missense	202	43.73	157	SNP	1.000	A
NUP62	23636	genome.wustl.edu	37	19	50412810	50412811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:50412810_50412811insC	ENST00000596217.1	-	2	2141_2142	c.254_255insG	c.(253-255)ggafs	p.G85fs	CTC-326K19.6_ENST00000451973.1_3'UTR|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Frame_Shift_Ins_p.G85fs|NUP62_ENST00000597723.1_Frame_Shift_Ins_p.G85fs|NUP62_ENST00000352066.3_Frame_Shift_Ins_p.G85fs|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Frame_Shift_Ins_p.G85fs|NUP62_ENST00000422090.2_Frame_Shift_Ins_p.G85fs			P37198	NUP62_HUMAN	nucleoporin 62kDa	85	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAAATCCAGTTCCCCCCGAAGC	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.255dupG	19.37:g.50412816_50412816dupC	ENSP00000471191:p.Gly85fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Frame_Shift_Ins	INS	pfam_Nucleoporin_NSP1_C	p.T86fs	ENST00000596217.1	37	c.255_254	CCDS12788.1	19																																																																																			NUP62	-	NULL	ENSG00000213024		0.579	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	278	0.00	0	-	NM_153719		50412810	50412811	-1	no_errors	ENST00000352066	ensembl	human	known	69_37n	frame_shift_ins	199	28.16	78	INS	0.002:0.030	C
NVL	4931	genome.wustl.edu	37	1	224517828	224517828	+	Start_Codon_SNP	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:224517828A>G	ENST00000281701.6	-	1	261	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NVL_ENST00000391875.2_5'UTR|NVL_ENST00000469075.1_Start_Codon_SNP_p.M1T|NVL_ENST00000361463.3_5'UTR|NVL_ENST00000340871.4_5'UTR|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000468673.1_5'UTR	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	1						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TCTGGGCTTCATCGCGTCGGT	0.637																																						dbGAP											0													74.0	68.0	70.0					1																	224517828		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2T>C	1.37:g.224517828A>G	ENSP00000281701:p.Met1Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,smart_AAA+_ATPase	p.M1T	ENST00000281701.6	37	c.2	CCDS1541.1	1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.496692	0.44352	.	.	ENSG00000143748	ENST00000281701;ENST00000469075;ENST00000492281;ENST00000488718;ENST00000461546	D;D	0.95447	-3.6;-3.71	3.98	3.98	0.46160	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	.	.	.	0.80722	D	1	D;P;P	0.53462	0.96;0.932;0.596	D;P;B	0.64144	0.922;0.775;0.108	D	0.96682	0.9504	9	0.87932	D	0	-21.5904	9.5611	0.39369	1.0:0.0:0.0:0.0	.	1;1;1	B4DF43;B4DP98;O15381	.;.;NVL_HUMAN	T	1	ENSP00000281701:M1T;ENSP00000417826:M1T	ENSP00000281701:M1T	M	-	2	0	NVL	222584451	1.000000	0.71417	0.996000	0.52242	0.045000	0.14185	3.561000	0.53770	2.033000	0.60031	0.533000	0.62120	ATG	NVL	-	NULL	ENSG00000143748		0.637	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2	91	0.00	0	A	NM_002533	Missense_Mutation	224517828	224517828	-1	no_errors	ENST00000281701	ensembl	human	known	69_37n	missense	183	13.95	30	SNP	0.997	G
FFAR4	338557	genome.wustl.edu	37	10	95347289	95347289	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:95347289T>C	ENST00000371483.4	+	4	1113	c.1057T>C	c.(1057-1059)Ttc>Ctc	p.F353L	FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Missense_Mutation_p.F337L	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	353					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										TTTTTGCTGCTTCTGGTTCCC	0.413																																						dbGAP											0													105.0	111.0	109.0					10																	95347289		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.1057T>C	10.37:g.95347289T>C	ENSP00000360538:p.Phe353Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.F353L	ENST00000371483.4	37	c.1057	CCDS31248.1	10	.	.	.	.	.	.	.	.	.	.	T	2.322	-0.355332	0.05138	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.35048	1.33;1.33	4.97	3.81	0.43845	.	0.728028	0.13168	N	0.408528	T	0.20088	0.0483	N	0.24115	0.695	0.30084	N	0.808889	B;B	0.15141	0.012;0.008	B;B	0.15870	0.014;0.004	T	0.28713	-1.0035	10	0.08837	T	0.75	-10.0812	5.9971	0.19499	0.1461:0.0763:0.0:0.7776	.	337;353	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	L	337;353	ENSP00000360536:F337L;ENSP00000360538:F353L	ENSP00000360536:F337L	F	+	1	0	O3FAR1	95337279	0.993000	0.37304	0.831000	0.32960	0.285000	0.27093	1.354000	0.34056	0.984000	0.38629	0.454000	0.30748	TTC	O3FAR1	-	NULL	ENSG00000186188		0.413	FFAR4-002	KNOWN	basic|CCDS	protein_coding	O3FAR1	HGNC	protein_coding	OTTHUMT00000083179.1	297	0.00	0	T	NM_181745		95347289	95347289	+1	no_errors	ENST00000371483	ensembl	human	known	69_37n	missense	147	38.02	92	SNP	0.928	C
OBSCN	84033	genome.wustl.edu	37	1	228475592	228475592	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:228475592C>T	ENST00000422127.1	+	36	9786	c.9742C>T	c.(9742-9744)Ccg>Tcg	p.P3248S	OBSCN_ENST00000570156.2_Missense_Mutation_p.P3677S|OBSCN_ENST00000359599.6_Missense_Mutation_p.P2095S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P367S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P3248S|OBSCN_ENST00000366709.4_Missense_Mutation_p.P367S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3248	Ig-like 32.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAACCTCCGGCCGCAGGACAG	0.607																																						dbGAP											0													63.0	71.0	68.0					1																	228475592		2107	4220	6327	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9742C>T	1.37:g.228475592C>T	ENSP00000409493:p.Pro3248Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.P3248S	ENST00000422127.1	37	c.9742	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468614	0.43839	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;3.51;-0.54	5.06	5.06	0.68205	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.078474	0.49305	D	0.000154	T	0.76814	0.4040	L	0.39245	1.2	0.09310	N	1	P;D	0.69078	0.881;0.997	P;D	0.68483	0.855;0.958	T	0.67879	-0.5556	10	0.21014	T	0.42	.	17.1995	0.86902	0.0:1.0:0.0:0.0	.	3248;3248	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	3248;3248;367;367;2095	ENSP00000284548:P3248S;ENSP00000409493:P3248S;ENSP00000355668:P367S;ENSP00000355670:P367S;ENSP00000352613:P2095S	ENSP00000284548:P3248S	P	+	1	0	OBSCN	226542215	0.000000	0.05858	0.652000	0.29579	0.010000	0.07245	0.904000	0.28491	2.352000	0.79861	0.561000	0.74099	CCG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000154358		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		114	0.87	1	C	NM_052843		228475592	228475592	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	189	16.74	38	SNP	0.057	T
TENM2	57451	genome.wustl.edu	37	5	167622300	167622300	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:167622300C>T	ENST00000518659.1	+	15	2939	c.2900C>T	c.(2899-2901)aCg>aTg	p.T967M	TENM2_ENST00000545108.1_Splice_Site_p.T967M|TENM2_ENST00000519204.1_Splice_Site_p.T846M|TENM2_ENST00000520394.1_Splice_Site_p.T735M|TENM2_ENST00000403607.2_Splice_Site_p.T791M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	967					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGGATGGCACGTGAGTAGCT	0.557																																						dbGAP											0													59.0	61.0	61.0					5																	167622300		2008	4172	6180	-	-	-	SO:0001630	splice_region_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2900+1C>T	5.37:g.167622300C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T967M	ENST00000518659.1	37	c.2900		5	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538254	0.45176	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	5.63	5.63	0.86233	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.178308	0.64402	N	0.000010	T	0.06781	0.0173	N	0.03608	-0.345	0.46749	D	0.999188	B;B;B	0.13594	0.002;0.001;0.008	B;B;B	0.09377	0.002;0.001;0.004	T	0.41592	-0.9500	10	0.18710	T	0.47	.	14.9064	0.70724	0.0:0.93:0.0:0.07	.	967;967;735	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	967;967;846;735;791	ENSP00000429430:T967M;ENSP00000438635:T967M;ENSP00000428964:T846M;ENSP00000427874:T735M;ENSP00000384905:T791M	ENSP00000384905:T791M	T	+	2	0	ODZ2	167554878	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.537000	0.45702	2.652000	0.90054	0.655000	0.94253	ACG	ODZ2	-	superfamily_CarboxyPept-like_regulatory,superfamily_ConA-like_lec_gl	ENSG00000145934		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	233	0.00	0	C	NM_001122679	Missense_Mutation	167622300	167622300	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	missense	135	40.79	93	SNP	1.000	T
TENM4	26011	genome.wustl.edu	37	11	78440505	78440505	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:78440505C>T	ENST00000278550.7	-	22	3784	c.3322G>A	c.(3322-3324)Gca>Aca	p.A1108T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1108					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)										TCTGGGGCTGCAGCGAACCAC	0.562																																						dbGAP											0													45.0	49.0	48.0					11																	78440505		1930	4116	6046	-	-	-	SO:0001583	missense	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.3322G>A	11.37:g.78440505C>T	ENSP00000278550:p.Ala1108Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	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.A1108T	ENST00000278550.7	37	c.3322	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771420	0.90108	.	.	ENSG00000149256	ENST00000278550	D	0.93133	-3.17	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	M	0.88570	2.965	0.58432	D	0.999999	D	0.69078	0.997	D	0.77004	0.989	D	0.97655	1.0157	9	.	.	.	.	17.6989	0.88289	0.0:1.0:0.0:0.0	.	1108	Q6N022	TEN4_HUMAN	T	1108	ENSP00000278550:A1108T	.	A	-	1	0	ODZ4	78118153	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	7.616000	0.83018	2.396000	0.81511	0.491000	0.48974	GCA	ODZ4	-	NULL	ENSG00000149256		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	156	0.00	0	C			78440505	78440505	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	110	42.49	82	SNP	1.000	T
OGFOD1	55239	genome.wustl.edu	37	16	56487178	56487178	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:56487178T>C	ENST00000566157.1	+	2	281	c.158T>C	c.(157-159)gTc>gCc	p.V53A	NUDT21_ENST00000300291.5_5'Flank|OGFOD1_ENST00000568397.1_Missense_Mutation_p.V53A	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	53					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CCAACAGAAGTCATTGTCATG	0.388																																						dbGAP											0													99.0	95.0	96.0					16																	56487178		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.158T>C	16.37:g.56487178T>C	ENSP00000457258:p.Val53Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.V53A	ENST00000566157.1	37	c.158	CCDS10761.2	16	.	.	.	.	.	.	.	.	.	.	T	3.054	-0.194712	0.06259	.	.	ENSG00000087263	ENST00000336111	.	.	.	4.93	3.93	0.45458	Prolyl 4-hydroxylase, alpha subunit (1);	0.351548	0.32719	N	0.005727	T	0.12518	0.0304	N	0.02142	-0.665	0.21933	N	0.999467	B	0.02656	0.0	B	0.01281	0.0	T	0.26258	-1.0108	9	0.02654	T	1	-18.1327	12.0778	0.53653	0.0:0.9128:0.0:0.0871	.	53	Q8N543	OGFD1_HUMAN	A	53	.	ENSP00000337196:V53A	V	+	2	0	OGFOD1	55044679	0.989000	0.36119	1.000000	0.80357	0.982000	0.71751	2.056000	0.41355	1.042000	0.40150	-0.285000	0.09966	GTC	OGFOD1	-	smart_Pro_4_hyd_alph	ENSG00000087263		0.388	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	201	0.00	0	T	NM_018233		56487178	56487178	+1	no_errors	ENST00000566157	ensembl	human	known	69_37n	missense	164	32.51	79	SNP	1.000	C
OLFML2B	25903	genome.wustl.edu	37	1	161967735	161967735	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:161967735C>T	ENST00000294794.3	-	6	1777	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	OLFML2B_ENST00000367940.2_Missense_Mutation_p.V453M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	452					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GTGGGAGGCACTGGGACTGTG	0.627																																						dbGAP											0													109.0	100.0	103.0					1																	161967735		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1354G>A	1.37:g.161967735C>T	ENSP00000294794:p.Val452Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.V452M	ENST00000294794.3	37	c.1354	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615985	0.28801	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87029	-2.2;-2.2	4.52	0.204	0.15199	.	.	.	.	.	T	0.55545	0.1927	N	0.14661	0.345	0.25387	N	0.988561	B;B	0.13594	0.001;0.008	B;B	0.15870	0.004;0.014	T	0.23119	-1.0197	8	0.44086	T	0.13	.	4.3396	0.11103	0.0:0.337:0.3573:0.3057	.	453;452	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	M	452;453	ENSP00000294794:V452M;ENSP00000356917:V453M	ENSP00000294794:V452M	V	-	1	0	OLFML2B	160234359	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.281000	0.08456	0.165000	0.19558	0.462000	0.41574	GTG	OLFML2B	-	NULL	ENSG00000162745		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	197	0.51	1	C	NM_015441		161967735	161967735	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	missense	368	15.01	65	SNP	0.000	T
OPN1SW	611	genome.wustl.edu	37	7	128414670	128414670	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:128414670G>T	ENST00000249389.2	-	3	568	c.569C>A	c.(568-570)aCc>aAc	p.T190N		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	190					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GGTGCCCACGGTGTACCAGTC	0.547																																						dbGAP											0													125.0	99.0	108.0					7																	128414670		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.569C>A	7.37:g.128414670G>T	ENSP00000249389:p.Thr190Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13877	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.T190N	ENST00000249389.2	37	c.569	CCDS5806.1	7	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669188	0.67814	.	.	ENSG00000128617	ENST00000249389	T	0.38240	1.15	5.1	4.23	0.50019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.92691	3.335	0.58432	D	0.999995	D	0.58620	0.983	D	0.64237	0.923	T	0.72833	-0.4173	10	0.87932	D	0	.	11.3371	0.49511	0.0879:0.0:0.9121:0.0	.	190	P03999	OPSB_HUMAN	N	190	ENSP00000249389:T190N	ENSP00000249389:T190N	T	-	2	0	OPN1SW	128201906	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.879000	0.87236	1.391000	0.46566	0.563000	0.77884	ACC	OPN1SW	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue	ENSG00000128617		0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1	220	0.00	0	G	NM_001708		128414670	128414670	-1	no_errors	ENST00000249389	ensembl	human	known	69_37n	missense	191	30.29	83	SNP	1.000	T
OPRD1	4985	genome.wustl.edu	37	1	29189472	29189472	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:29189472G>A	ENST00000234961.2	+	3	1038	c.796G>A	c.(796-798)Gtt>Att	p.V266I		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	266					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGTGCTGGTGGTTGTGGGCGC	0.672																																						dbGAP											0													41.0	36.0	37.0					1																	29189472		2202	4299	6501	-	-	-	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.796G>A	1.37:g.29189472G>A	ENSP00000234961:p.Val266Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5B0B8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_Somatstn_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.V266I	ENST00000234961.2	37	c.796	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472711	0.84640	.	.	ENSG00000116329	ENST00000234961	T	0.39406	1.08	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.070917	0.56097	D	0.000027	T	0.51176	0.1659	M	0.61703	1.905	0.80722	D	1	P	0.36712	0.566	P	0.46917	0.531	T	0.55276	-0.8166	10	0.52906	T	0.07	.	14.2291	0.65879	0.0:0.0:1.0:0.0	.	266	P41143	OPRD_HUMAN	I	266	ENSP00000234961:V266I	ENSP00000234961:V266I	V	+	1	0	OPRD1	29062059	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.657000	0.98554	2.205000	0.71048	0.462000	0.41574	GTT	OPRD1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000116329		0.672	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	63	0.00	0	G	NM_000911		29189472	29189472	+1	no_errors	ENST00000234961	ensembl	human	known	69_37n	missense	36	41.94	26	SNP	1.000	A
OPRL1	4987	genome.wustl.edu	37	20	62729364	62729364	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:62729364G>A	ENST00000349451.3	+	5	855	c.443G>A	c.(442-444)cGc>cAc	p.R148H	OPRL1_ENST00000355631.4_Missense_Mutation_p.R148H|OPRL1_ENST00000336866.2_Missense_Mutation_p.R148H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGTGTGGATCGCTATGTAGCC	0.567																																						dbGAP											0													206.0	174.0	185.0					20																	62729364		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.443G>A	20.37:g.62729364G>A	ENSP00000336764:p.Arg148His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_X_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.R148H	ENST00000349451.3	37	c.443	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.198582	0.94997	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	D;D;D	0.97161	-4.27;-4.27;-4.27	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.111194	0.64402	D	0.000007	D	0.99108	0.9693	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99167	1.0863	10	0.87932	D	0	.	18.4596	0.90734	0.0:0.0:1.0:0.0	.	143;148	P41146-2;P41146	.;OPRX_HUMAN	H	148	ENSP00000336843:R148H;ENSP00000347848:R148H;ENSP00000336764:R148H	ENSP00000336843:R148H	R	+	2	0	OPRL1	62199808	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.585000	0.98223	2.374000	0.81015	0.551000	0.68910	CGC	OPRL1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000125510		0.567	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	233	0.43	1	G	NM_182647		62729364	62729364	+1	no_errors	ENST00000336866	ensembl	human	known	69_37n	missense	135	35.41	74	SNP	1.000	A
OR10X1	128367	genome.wustl.edu	37	1	158548962	158548962	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:158548962C>A	ENST00000368150.1	-	1	727	c.728G>T	c.(727-729)aGg>aTg	p.R243M		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGAAGGGATCCTGAGGACAGT	0.458																																						dbGAP											0													128.0	127.0	127.0					1																	158548962		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.728G>T	1.37:g.158548962C>A	ENSP00000357132:p.Arg243Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFR8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R243M	ENST00000368150.1	37	c.728	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566533	0.28003	.	.	ENSG00000186400	ENST00000368150	T	0.00265	8.39	4.8	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.258257	0.26200	N	0.025744	T	0.00210	0.0006	M	0.87269	2.87	0.09310	N	1	P	0.52316	0.952	P	0.57548	0.823	T	0.25710	-1.0124	10	0.72032	D	0.01	.	6.9693	0.24640	0.0:0.5354:0.0:0.4646	.	243	Q8NGY0	O10X1_HUMAN	M	243	ENSP00000357132:R243M	ENSP00000357132:R243M	R	-	2	0	OR10X1	156815586	0.000000	0.05858	0.978000	0.43139	0.234000	0.25298	-0.596000	0.05720	0.600000	0.29862	0.563000	0.77884	AGG	OR10X1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186400		0.458	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	194	0.51	1	C	NM_001004477		158548962	158548962	-1	no_errors	ENST00000368150	ensembl	human	known	69_37n	missense	426	18.79	99	SNP	0.138	A
OR14C36	127066	genome.wustl.edu	37	1	248512384	248512384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:248512384delT	ENST00000317861.1	+	1	308	c.308delT	c.(307-309)gttfs	p.V103fs		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105fs*28(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCCTCGTGGTTTTTTTTGTA	0.478																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											68.0	60.0	63.0					1																	248512384		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.308delT	1.37:g.248512384delT	ENSP00000324534:p.Val103fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ6	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F105fs	ENST00000317861.1	37	c.308	CCDS31112.1	1																																																																																			OR14C36	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177174		0.478	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14C36	HGNC	protein_coding	OTTHUMT00000097359.1	164	0.00	0	T	NM_001001918		248512384	248512384	+1	no_errors	ENST00000317861	ensembl	human	known	69_37n	frame_shift_del	329	15.87	63	DEL	0.004	-
OR2F1	26211	genome.wustl.edu	37	7	143657730	143657730	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:143657730T>C	ENST00000392899.1	+	1	704	c.667T>C	c.(667-669)Tcc>Ccc	p.S223P	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	223					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCAGATCATCTCCACCATCCT	0.498																																						dbGAP											0													195.0	175.0	182.0					7																	143657730		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.667T>C	7.37:g.143657730T>C	ENSP00000376633:p.Ser223Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S223P	ENST00000392899.1	37	c.667	CCDS5887.1	7	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404966	0.42613	.	.	ENSG00000213215	ENST00000392899	T	0.38240	1.15	5.53	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000064	T	0.46814	0.1412	L	0.56124	1.755	0.26185	N	0.979676	P	0.49961	0.93	P	0.58077	0.832	T	0.38866	-0.9641	10	0.41790	T	0.15	-23.8326	12.1512	0.54051	0.0:0.0:0.4138:0.5862	.	223	Q13607	OR2F1_HUMAN	P	223	ENSP00000376633:S223P	ENSP00000376633:S223P	S	+	1	0	OR2F1	143288663	0.000000	0.05858	0.041000	0.18516	0.410000	0.31052	-0.489000	0.06490	0.144000	0.18951	0.533000	0.62120	TCC	OR2F1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000213215		0.498	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1	739	0.13	1	T			143657730	143657730	+1	no_errors	ENST00000392899	ensembl	human	known	69_37n	missense	521	33.46	263	SNP	0.575	C
OR2A1	346528	genome.wustl.edu	37	7	144015332	144015332	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:144015332C>T	ENST00000408951.1	+	1	115	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					CTTCACCCTGCTGGGGAACGG	0.557																																						dbGAP											0													4.0	5.0	5.0					7																	144015332		1012	2166	3178	-	-	-	SO:0001819	synonymous_variant	0				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.115C>T	7.37:g.144015332C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF44|Q96R46	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L39	ENST00000408951.1	37	c.115	CCDS43673.1	7																																																																																			OR2A1	-	prints_7TM_GPCR_Rhodpsn	ENSG00000221970		0.557	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A1	HGNC	protein_coding	OTTHUMT00000349985.1	72	0.00	0	C			144015332	144015332	+1	no_errors	ENST00000408951	ensembl	human	known	69_37n	silent	62	23.46	19	SNP	0.009	T
OR2L13	284521	genome.wustl.edu	37	1	248263281	248263281	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:248263281A>G	ENST00000358120.2	+	2	749	c.604A>G	c.(604-606)Aca>Gca	p.T202A	OR2L13_ENST00000366478.2_Missense_Mutation_p.T202A			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTTTGTAAGTACAAGCCTCTT	0.438																																						dbGAP											0													210.0	198.0	202.0					1																	248263281		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.604A>G	1.37:g.248263281A>G	ENSP00000350836:p.Thr202Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUR5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T202A	ENST00000358120.2	37	c.604	CCDS1637.1	1	.	.	.	.	.	.	.	.	.	.	A	2.031	-0.422465	0.04734	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.36157	1.27;1.27	4.21	0.517	0.17025	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000202	T	0.24812	0.0602	N	0.16037	0.36	0.09310	N	1	P	0.50528	0.936	P	0.48738	0.588	T	0.13124	-1.0521	10	0.56958	D	0.05	.	7.9654	0.30095	0.7317:0.0:0.2683:0.0	.	202	Q8N349	OR2LD_HUMAN	A	202	ENSP00000355434:T202A;ENSP00000350836:T202A	ENSP00000350836:T202A	T	+	1	0	OR2L13	246329904	0.000000	0.05858	0.027000	0.17364	0.064000	0.16182	-0.736000	0.04882	0.187000	0.20147	0.528000	0.53228	ACA	OR2L13	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196071		0.438	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	639	0.00	0	A	NM_175911		248263281	248263281	+1	no_errors	ENST00000358120	ensembl	human	known	69_37n	missense	1130	17.46	241	SNP	0.000	G
OR2T1	26696	genome.wustl.edu	37	1	248569431	248569431	+	Missense_Mutation	SNP	G	G	A	rs193920936		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:248569431G>A	ENST00000366474.1	+	1	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTTATATCGGCACAACTGT	0.383																																						dbGAP											0													153.0	151.0	152.0					1																	248569431		2203	4300	6503	-	-	-	SO:0001583	missense	0			U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.136G>A	1.37:g.248569431G>A	ENSP00000355430:p.Gly46Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G46S	ENST00000366474.1	37	c.136	CCDS31115.1	1	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.125018	0.01770	.	.	ENSG00000175143	ENST00000366474	T	0.02631	4.22	4.75	3.62	0.41486	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47959	-0.9076	9	0.02654	T	1	.	4.3922	0.11346	0.7313:0.0:0.0957:0.173	.	46	O43869	OR2T1_HUMAN	S	46	ENSP00000355430:G46S	ENSP00000355430:G46S	G	+	1	0	OR2T1	246636054	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.571000	0.05889	0.770000	0.33336	-0.350000	0.07774	GGC	OR2T1	-	NULL	ENSG00000175143		0.383	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T1	HGNC	protein_coding	OTTHUMT00000097346.2	268	0.00	0	G			248569431	248569431	+1	no_errors	ENST00000366474	ensembl	human	known	69_37n	missense	479	16.40	94	SNP	0.001	A
OR52J3	119679	genome.wustl.edu	37	11	5068682	5068683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:5068682_5068683insA	ENST00000380370.1	+	1	927_928	c.927_928insA	c.(928-930)aaafs	p.K310fs		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K311fs?(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTTTACTAAAAAATAAGA	0.376																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.933dupA	11.37:g.5068688_5068688dupA	ENSP00000369728:p.Lys310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE4	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.*311fs	ENST00000380370.1	37	c.927_928	CCDS31370.1	11																																																																																			OR52J3	-	NULL	ENSG00000205495		0.376	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	HGNC	protein_coding	OTTHUMT00000142807.1	50	0.00	0	-	NM_001001916		5068682	5068683	+1	no_errors	ENST00000380370	ensembl	human	known	69_37n	frame_shift_ins	47	22.95	14	INS	0.000:0.000	A
OR51B5	282763	genome.wustl.edu	37	11	5363900	5363900	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:5363900C>T	ENST00000300773.2	-	1	909	c.855G>A	c.(853-855)atG>atA	p.M285I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	285					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTATAGGATTCATTAGTGGAG	0.393																																						dbGAP											0													99.0	97.0	98.0					11																	5363900		2201	4297	6498	-	-	-	SO:0001583	missense	0			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.855G>A	11.37:g.5363900C>T	ENSP00000300773:p.Met285Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M285I	ENST00000300773.2	37	c.855	CCDS31378.1	11	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948359	0.34377	.	.	ENSG00000242180	ENST00000300773	T	0.34072	1.38	4.92	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.125486	0.34906	N	0.003588	T	0.34193	0.0889	L	0.61036	1.89	0.24716	N	0.993172	B	0.17852	0.024	B	0.21151	0.033	T	0.32268	-0.9913	10	0.56958	D	0.05	.	8.1385	0.31069	0.0:0.7562:0.1585:0.0854	.	285	Q9H339	O51B5_HUMAN	I	285	ENSP00000300773:M285I	ENSP00000300773:M285I	M	-	3	0	OR51B5	5320476	0.124000	0.22315	1.000000	0.80357	0.994000	0.84299	-0.371000	0.07513	1.313000	0.45069	0.650000	0.86243	ATG	OR51B5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000242180		0.393	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	204	0.00	0	C	NM_001005567		5363900	5363900	-1	no_errors	ENST00000300773	ensembl	human	known	69_37n	missense	144	32.39	69	SNP	0.991	T
OR52N2	390077	genome.wustl.edu	37	11	5842325	5842325	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:5842325T>C	ENST00000317037.2	+	1	782	c.760T>C	c.(760-762)Tat>Cat	p.Y254H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATCACCTATGTTGCTGC	0.443																																						dbGAP											0													215.0	169.0	185.0					11																	5842325		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.760T>C	11.37:g.5842325T>C	ENSP00000322801:p.Tyr254His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFF9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y254H	ENST00000317037.2	37	c.760	CCDS31399.1	11	.	.	.	.	.	.	.	.	.	.	T	11.11	1.543450	0.27563	.	.	ENSG00000180988	ENST00000317037	T	0.41065	1.01	6.09	6.09	0.99107	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000176	T	0.75649	0.3878	H	0.96518	3.835	0.09310	N	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.75816	-0.3184	10	0.87932	D	0	.	15.4925	0.75619	0.0:0.0:0.0:1.0	.	254	Q8NGI0	O52N2_HUMAN	H	254	ENSP00000322801:Y254H	ENSP00000322801:Y254H	Y	+	1	0	OR52N2	5798901	0.748000	0.28294	0.098000	0.21074	0.012000	0.07955	4.871000	0.63042	2.336000	0.79503	0.523000	0.50628	TAT	OR52N2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180988		0.443	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	HGNC	protein_coding	OTTHUMT00000401143.1	529	0.19	1	T	NM_001005174		5842325	5842325	+1	no_errors	ENST00000317037	ensembl	human	known	69_37n	missense	324	38.91	207	SNP	0.285	C
OR4A15	81328	genome.wustl.edu	37	11	55135957	55135957	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:55135957A>G	ENST00000314706.3	+	1	598	c.598A>G	c.(598-600)Aat>Gat	p.N200D		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTGTGGACCCAATGTCATTGA	0.433																																						dbGAP											0													137.0	126.0	130.0					11																	55135957		2201	4286	6487	-	-	-	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.598A>G	11.37:g.55135957A>G	ENSP00000325065:p.Asn200Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.N200D	ENST00000314706.3	37	c.598	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	-	13.64	2.296068	0.40594	.	.	ENSG00000181958	ENST00000314706	T	0.00241	8.46	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000055	T	0.00608	0.0020	M	0.88570	2.965	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.23119	-1.0197	10	0.87932	D	0	.	10.0107	0.41984	1.0:0.0:0.0:0.0	.	200	Q8NGL6	O4A15_HUMAN	D	200	ENSP00000325065:N200D	ENSP00000325065:N200D	N	+	1	0	OR4A15	54892533	0.007000	0.16637	0.686000	0.30086	0.596000	0.36781	2.245000	0.43133	1.456000	0.47831	0.403000	0.27427	AAT	OR4A15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181958		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	481	0.00	0	A	NM_001005275		55135957	55135957	+1	no_errors	ENST00000314706	ensembl	human	known	69_37n	missense	320	38.31	200	SNP	0.010	G
OR5P3	120066	genome.wustl.edu	37	11	7846708	7846708	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:7846708T>C	ENST00000328375.1	-	1	811	c.812A>G	c.(811-813)aAc>aGc	p.N271S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCACCTTGTTCTGGTCAGT	0.507																																						dbGAP											0													121.0	110.0	114.0					11																	7846708		2187	4296	6483	-	-	-	SO:0001583	missense	0			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.812A>G	11.37:g.7846708T>C	ENSP00000332068:p.Asn271Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE1|Q8NGM2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.N271S	ENST00000328375.1	37	c.812	CCDS7783.1	11	.	.	.	.	.	.	.	.	.	.	T	18.51	3.639686	0.67244	.	.	ENSG00000182334	ENST00000328375	T	0.00123	8.7	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	1.055290	0.07477	N	0.903123	T	0.00356	0.0011	L	0.41632	1.29	0.28886	N	0.894118	D	0.67145	0.996	D	0.68039	0.955	T	0.69143	-0.5223	10	0.51188	T	0.08	-12.9513	12.4882	0.55885	0.0:0.0:0.0:1.0	.	271	Q8WZ94	OR5P3_HUMAN	S	271	ENSP00000332068:N271S	ENSP00000332068:N271S	N	-	2	0	OR5P3	7803284	0.825000	0.29262	1.000000	0.80357	0.953000	0.61014	1.253000	0.32886	2.056000	0.61249	0.528000	0.53228	AAC	OR5P3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000182334		0.507	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P3	HGNC	protein_coding	OTTHUMT00000385697.1	339	0.00	0	T	NM_153445		7846708	7846708	-1	no_errors	ENST00000328375	ensembl	human	known	69_37n	missense	220	36.86	129	SNP	1.000	C
OR5M11	219487	genome.wustl.edu	37	11	56310647	56310647	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:56310647C>T	ENST00000528616.2	-	1	110	c.87G>A	c.(85-87)gtG>gtA	p.V29V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	29						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						CCAGAAACAGCACAAAAAGCA	0.473																																						dbGAP											0													109.0	108.0	108.0					11																	56310647		2050	4223	6273	-	-	-	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.87G>A	11.37:g.56310647C>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.V29	ENST00000528616.2	37	c.87	CCDS53629.1	11																																																																																			OR5M11	-	prints_7TM_GPCR_Rhodpsn	ENSG00000255223		0.473	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1	184	0.54	1	C	NM_001005245		56310647	56310647	-1	no_errors	ENST00000528616	ensembl	human	known	69_37n	silent	147	32.88	72	SNP	0.062	T
OR6C75	390323	genome.wustl.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											154.0	133.0	140.0					12																	55759486		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L200fs	ENST00000343399.3	37	c.592	CCDS31820.1	12																																																																																			OR6C75	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000187857		0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1	329	0.60	2	T			55759486	55759486	+1	no_errors	ENST00000343399	ensembl	human	known	69_37n	frame_shift_del	287	31.79	137	DEL	0.582	-
OR6C76	390326	genome.wustl.edu	37	12	55820818	55820818	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:55820818G>A	ENST00000328314.3	+	1	781	c.781G>A	c.(781-783)Gca>Aca	p.A261T		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAAAACATCAGCAAAGGAAGG	0.403																																						dbGAP											0													105.0	94.0	98.0					12																	55820818		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.781G>A	12.37:g.55820818G>A	ENSP00000328402:p.Ala261Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A261T	ENST00000328314.3	37	c.781	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	g	16.53	3.149766	0.57151	.	.	ENSG00000185821	ENST00000328314	T	0.00099	8.73	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.153098	0.30252	U	0.010058	T	0.00210	0.0006	L	0.48174	1.505	0.26282	N	0.978258	P	0.44090	0.826	P	0.50082	0.63	T	0.42068	-0.9473	10	0.72032	D	0.01	.	5.3738	0.16154	0.1038:0.0:0.6381:0.2581	.	261	A6NM76	O6C76_HUMAN	T	261	ENSP00000328402:A261T	ENSP00000328402:A261T	A	+	1	0	OR6C76	54107085	0.000000	0.05858	1.000000	0.80357	0.562000	0.35680	-0.064000	0.11636	2.240000	0.73641	0.531000	0.56144	GCA	OR6C76	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185821		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	242	0.00	0	G	NM_001005183		55820818	55820818	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	missense	165	32.52	80	SNP	0.989	A
OR6K2	81448	genome.wustl.edu	37	1	158670002	158670002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:158670002G>T	ENST00000359610.2	-	1	484	c.441C>A	c.(439-441)tgC>tgA	p.C147*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CACAAACACAGCAACTTAAAG	0.463																																						dbGAP											0													123.0	109.0	114.0					1																	158670002		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.441C>A	1.37:g.158670002G>T	ENSP00000352626:p.Cys147*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH33|Q6IFR6	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.C147*	ENST00000359610.2	37	c.441	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575535	0.86645	.	.	ENSG00000196171	ENST00000359610	.	.	.	4.84	4.84	0.62591	.	0.000000	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7407	12.5562	0.56254	0.0:0.0:0.8331:0.1669	.	.	.	.	X	147	.	ENSP00000352626:C147X	C	-	3	2	OR6K2	156936626	0.000000	0.05858	0.999000	0.59377	0.923000	0.55619	-0.325000	0.07976	2.494000	0.84150	0.650000	0.86243	TGC	OR6K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196171		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	237	0.00	0	G	NM_001005279		158670002	158670002	-1	no_errors	ENST00000359610	ensembl	human	known	69_37n	nonsense	470	17.83	102	SNP	0.998	T
OR6K3	391114	genome.wustl.edu	37	1	158687481	158687481	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:158687481G>A	ENST00000368146.1	-	1	472	c.473C>T	c.(472-474)gCt>gTt	p.A158V	OR6K3_ENST00000368145.1_Missense_Mutation_p.A142V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGAGTTGAGCACAGAGCCG	0.517																																						dbGAP											0													84.0	91.0	89.0					1																	158687481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.473C>T	1.37:g.158687481G>A	ENSP00000357128:p.Ala158Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A158V	ENST00000368146.1	37	c.473		1	.	.	.	.	.	.	.	.	.	.	G	0.521	-0.862312	0.02610	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00932	5.53;5.53	4.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.05592	-0.015	0.18873	N	0.999984	B	0.06786	0.001	B	0.14023	0.01	T	0.27905	-1.0060	9	0.08599	T	0.76	.	5.2355	0.15445	0.2141:0.1761:0.6098:0.0	.	158	Q8NGY3	OR6K3_HUMAN	V	142;158	ENSP00000357127:A142V;ENSP00000357128:A158V	ENSP00000357127:A142V	A	-	2	0	OR6K3	156954105	0.000000	0.05858	0.994000	0.49952	0.022000	0.10575	-2.070000	0.01380	0.998000	0.38996	0.411000	0.27672	GCT	OR6K3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000203757		0.517	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		223	0.00	0	G			158687481	158687481	-1	no_errors	ENST00000368146	ensembl	human	known	69_37n	missense	386	18.57	88	SNP	0.303	A
OR7D2	162998	genome.wustl.edu	37	19	9297382	9297382	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:9297382G>A	ENST00000344248.2	+	1	1104	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	309					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A309S(1)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CAGCAGGGCAGCCTCTTGTTT	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											35.0	37.0	37.0					19																	9297382		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.925G>A	19.37:g.9297382G>A	ENSP00000345563:p.Ala309Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.A309T	ENST00000344248.2	37	c.925	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	g	1.969	-0.436854	0.04636	.	.	ENSG00000188000	ENST00000344248	T	0.02177	4.41	2.2	-4.41	0.03590	.	2.918020	0.01877	N	0.037614	T	0.01835	0.0058	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47407	-0.9120	10	0.07990	T	0.79	.	6.3023	0.21119	0.2568:0.0:0.6091:0.1341	.	309	Q96RA2	OR7D2_HUMAN	T	309	ENSP00000345563:A309T	ENSP00000345563:A309T	A	+	1	0	OR7D2	9158382	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.994000	0.01474	-2.597000	0.00453	-1.401000	0.01141	GCC	OR7D2	-	NULL	ENSG00000188000		0.468	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	52	0.00	0	G			9297382	9297382	+1	no_errors	ENST00000344248	ensembl	human	known	69_37n	missense	29	34.78	16	SNP	0.000	A
OR7A17	26333	genome.wustl.edu	37	19	14991326	14991326	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:14991326G>A	ENST00000327462.2	-	1	938	c.842C>T	c.(841-843)gCc>gTc	p.A281V		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CATGGGGGTGGCCACAGTGTA	0.458																																						dbGAP											0													92.0	84.0	87.0					19																	14991326		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.842C>T	19.37:g.14991326G>A	ENSP00000328144:p.Ala281Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFQ6|Q96R98	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A281V	ENST00000327462.2	37	c.842	CCDS12319.1	19	.	.	.	.	.	.	.	.	.	.	g	0.100	-1.153354	0.01700	.	.	ENSG00000185385	ENST00000327462	T	0.00013	9.25	3.37	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.221529	0.22152	N	0.063907	T	0.00012	0.0000	N	0.00004	-3.34	0.21473	N	0.999673	B	0.02656	0.0	B	0.04013	0.001	T	0.51585	-0.8687	10	0.02654	T	1	.	6.2402	0.20787	0.7632:0.0:0.2368:0.0	.	281	O14581	OR7AH_HUMAN	V	281	ENSP00000328144:A281V	ENSP00000328144:A281V	A	-	2	0	OR7A17	14852326	0.013000	0.17824	0.998000	0.56505	0.543000	0.35085	2.709000	0.47160	0.086000	0.17137	-0.631000	0.03989	GCC	OR7A17	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000185385		0.458	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	359	0.00	0	G	NM_030901		14991326	14991326	-1	no_errors	ENST00000327462	ensembl	human	known	69_37n	missense	80	75.15	245	SNP	0.996	A
OR8H1	219469	genome.wustl.edu	37	11	56057775	56057775	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:56057775A>C	ENST00000313022.2	-	1	791	c.764T>G	c.(763-765)aTt>aGt	p.I255S		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATAAGTAAAAATCATAGTTCC	0.363																																						dbGAP											0													81.0	82.0	81.0					11																	56057775		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.764T>G	11.37:g.56057775A>C	ENSP00000323595:p.Ile255Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.I255S	ENST00000313022.2	37	c.764	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	A	1.864	-0.461977	0.04508	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.41065	1.01	3.73	-0.375	0.12509	GPCR, rhodopsin-like superfamily (1);	0.118744	0.38548	N	0.001642	T	0.33352	0.0860	L	0.60845	1.875	0.09310	N	1	B	0.13145	0.007	B	0.24394	0.053	T	0.26503	-1.0101	10	0.49607	T	0.09	.	5.1819	0.15165	0.5834:0.1466:0.27:0.0	.	255	Q8NGG4	OR8H1_HUMAN	S	255;251	ENSP00000323595:I255S	ENSP00000323595:I255S	I	-	2	0	OR8H1	55814351	0.021000	0.18746	0.038000	0.18304	0.004000	0.04260	2.955000	0.49121	0.134000	0.18681	0.441000	0.28932	ATT	OR8H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.363	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	329	0.30	1	A	NM_001005199		56057775	56057775	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	missense	200	37.69	121	SNP	0.001	C
OR8H2	390151	genome.wustl.edu	37	11	55872855	55872855	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:55872855T>C	ENST00000313503.1	+	1	337	c.337T>C	c.(337-339)Tac>Cac	p.Y113H		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGCTGAATGTTACCTTCTCTC	0.458										HNSCC(53;0.14)																												dbGAP											0													239.0	241.0	241.0					11																	55872855		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.337T>C	11.37:g.55872855T>C	ENSP00000323982:p.Tyr113His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.Y113H	ENST00000313503.1	37	c.337	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	t	5.890	0.348362	0.11126	.	.	ENSG00000181767	ENST00000313503	T	0.01347	4.99	3.35	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.237121	0.30293	N	0.009943	T	0.02380	0.0073	M	0.76574	2.34	0.09310	N	1	P	0.44478	0.836	B	0.38921	0.285	T	0.39623	-0.9605	10	0.51188	T	0.08	.	10.0065	0.41959	0.0:0.0:0.1707:0.8293	.	113	Q8N162	OR8H2_HUMAN	H	113	ENSP00000323982:Y113H	ENSP00000323982:Y113H	Y	+	1	0	OR8H2	55629431	0.000000	0.05858	0.091000	0.20842	0.006000	0.05464	-0.070000	0.11523	0.436000	0.26393	0.362000	0.22060	TAC	OR8H2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181767		0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	464	0.00	0	T	NM_001005200		55872855	55872855	+1	no_errors	ENST00000313503	ensembl	human	known	69_37n	missense	337	39.82	223	SNP	0.000	C
OR8H1	219469	genome.wustl.edu	37	11	56058343	56058343	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:56058343A>G	ENST00000313022.2	-	1	223	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATAAATGACAAGTGAGTAAGG	0.423																																						dbGAP											0													267.0	255.0	259.0					11																	56058343		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.196T>C	11.37:g.56058343A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L66	ENST00000313022.2	37	c.196	CCDS31526.1	11																																																																																			OR8H1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181693		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	675	0.00	0	A	NM_001005199		56058343	56058343	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	silent	440	35.20	239	SNP	0.046	G
OR8K1	390157	genome.wustl.edu	37	11	56114010	56114010	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:56114010A>C	ENST00000279783.2	+	1	590	c.496A>C	c.(496-498)Aca>Cca	p.T166P		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACTATTTCTCACAATTAAGTT	0.388										HNSCC(65;0.19)																												dbGAP											0													163.0	166.0	165.0					11																	56114010		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.496A>C	11.37:g.56114010A>C	ENSP00000279783:p.Thr166Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T166P	ENST00000279783.2	37	c.496	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	A	10.68	1.418222	0.25552	.	.	ENSG00000150261	ENST00000279783	T	0.00107	8.72	5.0	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.300707	0.24604	N	0.037118	T	0.00328	0.0010	H	0.95004	3.61	0.09310	N	1	B	0.34313	0.448	B	0.40677	0.337	T	0.15435	-1.0437	10	0.87932	D	0	-13.3693	6.1813	0.20472	0.7638:0.0:0.0902:0.146	.	166	Q8NGG5	OR8K1_HUMAN	P	166	ENSP00000279783:T166P	ENSP00000279783:T166P	T	+	1	0	OR8K1	55870586	0.000000	0.05858	0.011000	0.14972	0.605000	0.37080	0.685000	0.25378	0.693000	0.31634	0.448000	0.29417	ACA	OR8K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000150261		0.388	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	433	0.00	0	A	NM_001002907		56114010	56114010	+1	no_errors	ENST00000279783	ensembl	human	known	69_37n	missense	288	33.02	142	SNP	0.007	C
ORC1	4998	genome.wustl.edu	37	1	52851575	52851575	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:52851575C>T	ENST00000371568.3	-	9	1648	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ORC1_ENST00000371566.1_Missense_Mutation_p.R477Q	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	477					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCAGGCTTCGACTACGGAT	0.537																																						dbGAP											0													40.0	39.0	39.0					1																	52851575		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1430G>A	1.37:g.52851575C>T	ENSP00000360623:p.Arg477Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom	p.R477Q	ENST00000371568.3	37	c.1430	CCDS566.1	1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521786	0.85600	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.47528	0.84;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75199	0.3817	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.77713	-0.2485	10	0.49607	T	0.09	-9.5801	19.6257	0.95677	0.0:1.0:0.0:0.0	.	472;477	B7Z8H0;Q13415	.;ORC1_HUMAN	Q	477	ENSP00000360623:R477Q;ENSP00000360621:R477Q	ENSP00000360621:R477Q	R	-	2	0	ORC1	52624163	1.000000	0.71417	0.973000	0.42090	0.176000	0.22953	6.501000	0.73691	2.641000	0.89580	0.650000	0.86243	CGA	ORC1	-	NULL	ENSG00000085840		0.537	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC1	HGNC	protein_coding	OTTHUMT00000022202.1	101	0.00	0	C	NM_004153		52851575	52851575	-1	no_errors	ENST00000371566	ensembl	human	known	69_37n	missense	51	47.42	46	SNP	1.000	T
P2RY1	5028	genome.wustl.edu	37	3	152554350	152554350	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:152554350A>G	ENST00000305097.3	+	1	1615	c.779A>G	c.(778-780)tAc>tGc	p.Y260C	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	260					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAATCGATTTACCTGGTAATC	0.438																																						dbGAP											0													105.0	103.0	103.0					3																	152554350		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.779A>G	3.37:g.152554350A>G	ENSP00000304767:p.Tyr260Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.Y260C	ENST00000305097.3	37	c.779	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387934	0.61956	.	.	ENSG00000169860	ENST00000305097	T	0.20598	2.06	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.134404	0.51477	D	0.000093	T	0.33265	0.0857	L	0.39020	1.185	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	T	0.03148	-1.1067	10	0.54805	T	0.06	.	14.9343	0.70941	1.0:0.0:0.0:0.0	.	260	P47900	P2RY1_HUMAN	C	260	ENSP00000304767:Y260C	ENSP00000304767:Y260C	Y	+	2	0	P2RY1	154037040	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	6.207000	0.72159	2.117000	0.64856	0.460000	0.39030	TAC	P2RY1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000169860		0.438	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	214	0.00	0	A	NM_002563		152554350	152554350	+1	no_errors	ENST00000305097	ensembl	human	known	69_37n	missense	149	39.52	98	SNP	1.000	G
P4HB	5034	genome.wustl.edu	37	17	79803764	79803764	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:79803764delT	ENST00000331483.4	-	8	1382	c.1160delA	c.(1159-1161)aacfs	p.N387fs	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000439918.2_Frame_Shift_Del_p.N343fs|RP11-498C9.2_ENST00000576784.1_RNA	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	387	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CACAAAGACGTTTTTTTTCTC	0.557																																					Colon(49;444 983 1296 7887 42561)	dbGAP											0													73.0	70.0	71.0					17																	79803764		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1160delA	17.37:g.79803764delT	ENSP00000327801:p.Asn387fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Frame_Shift_Del	DEL	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.N387fs	ENST00000331483.4	37	c.1160	CCDS11787.1	17																																																																																			P4HB	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	ENSG00000185624		0.557	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3	162	0.00	0	T	NM_000918		79803764	79803764	-1	no_errors	ENST00000331483	ensembl	human	known	69_37n	frame_shift_del	304	15.24	55	DEL	1.000	-
PABPC3	5042	genome.wustl.edu	37	13	25670802	25670802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:25670802delA	ENST00000281589.3	+	1	503	c.466delA	c.(466-468)aaafs	p.K157fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	157	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGAGCTATTAAAAAAATGAA	0.398																																						dbGAP											0													118.0	117.0	117.0					13																	25670802		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.466delA	13.37:g.25670802delA	ENSP00000281589:p.Lys157fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NHV0|Q9H086	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.M158fs	ENST00000281589.3	37	c.466	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	406	0.00	0	A	NM_030979		25670802	25670802	+1	no_errors	ENST00000281589	ensembl	human	known	69_37n	frame_shift_del	314	34.63	169	DEL	1.000	-
PABPN1L	390748	genome.wustl.edu	37	16	88932785	88932785	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:88932785A>G	ENST00000419291.2	-	1	241	c.230T>C	c.(229-231)cTg>cCg	p.L77P	PABPN1L_ENST00000378358.4_Missense_Mutation_p.L77P|PABPN1L_ENST00000427766.1_Missense_Mutation_p.L77P|PABPN1L_ENST00000411789.2_Missense_Mutation_p.L77P	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	77						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GCACTCAGCCAGGTTCTCTTG	0.617																																						dbGAP											0													53.0	62.0	59.0					16																	88932785		1918	3806	5724	-	-	-	SO:0001583	missense	0				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.230T>C	16.37:g.88932785A>G	ENSP00000408598:p.Leu77Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3B3|A2VDI2	Missense_Mutation	SNP	NULL	p.L77P	ENST00000419291.2	37	c.230	CCDS45547.2	16	.	.	.	.	.	.	.	.	.	.	A	11.36	1.615237	0.28801	.	.	ENSG00000205022	ENST00000378358;ENST00000419291;ENST00000427766;ENST00000411789;ENST00000547152	T;T	0.18016	2.24;2.49	4.68	2.41	0.29592	.	0.560178	0.16749	N	0.201126	T	0.22898	0.0553	L	0.34521	1.04	0.20873	N	0.999832	B;D;P;D	0.76494	0.122;0.999;0.703;0.999	B;D;B;D	0.71656	0.025;0.974;0.342;0.974	T	0.07809	-1.0753	10	0.27082	T	0.32	-22.4824	5.617	0.17436	0.7781:0.0:0.2219:0.0	.	77;77;77;77	A6NDY0;A6NDY0-4;C9JEK9;A6NDY0-2	EPAB2_HUMAN;.;.;.	P	77	ENSP00000367609:L77P;ENSP00000408598:L77P	ENSP00000367609:L77P	L	-	2	0	PABPN1L	87460286	0.936000	0.31750	0.055000	0.19348	0.022000	0.10575	1.530000	0.36007	0.761000	0.33130	0.459000	0.35465	CTG	PABPN1L	-	NULL	ENSG00000205022		0.617	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	HGNC	protein_coding	OTTHUMT00000407502.1	162	0.00	0	A	NM_001080487		88932785	88932785	-1	no_errors	ENST00000427766	ensembl	human	known	69_37n	missense	92	42.24	68	SNP	0.083	G
PADI2	11240	genome.wustl.edu	37	1	17395442	17395442	+	3'UTR	SNP	C	C	T	rs560820926	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:17395442C>T	ENST00000375486.4	-	0	2158				PADI2_ENST00000444885.2_3'UTR|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II						chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGTCTCCCAGCGGGGCTGTCC	0.627													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18483	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.*97G>A	1.37:g.17395442C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96DA7|Q9UPN2	RNA	SNP	-	NULL	ENST00000375486.4	37	NULL	CCDS177.1	1																																																																																			PADI2	-	-	ENSG00000117115		0.627	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1	17	0.00	0	C			17395442	17395442	-1	no_errors	ENST00000466151	ensembl	human	known	69_37n	rna	12	40.00	8	SNP	0.000	T
PAMR1	25891	genome.wustl.edu	37	11	35457472	35457472	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:35457472G>A	ENST00000378880.2	-	9	1757	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	PAMR1_ENST00000378878.3_Missense_Mutation_p.R327W|PAMR1_ENST00000278360.3_Missense_Mutation_p.R455W|PAMR1_ENST00000532848.1_Missense_Mutation_p.R398W	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	438	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GATGGTGCCCGCCCACTCCAC	0.532																																						dbGAP											0													86.0	79.0	81.0					11																	35457472		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1312C>T	11.37:g.35457472G>A	ENSP00000368158:p.Arg438Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R455W	ENST00000378880.2	37	c.1363	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732365	0.69189	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.54	3.61	0.41365	Complement control module (2);Sushi/SCR/CCP (3);	0.051254	0.85682	D	0.000000	T	0.68504	0.3008	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.994	T	0.70791	-0.4776	10	0.87932	D	0	.	13.6327	0.62204	0.0:0.0:0.4203:0.5797	.	327;438;455	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	W	455;438;327;398;415	ENSP00000278360:R455W;ENSP00000368158:R438W;ENSP00000368156:R327W;ENSP00000433868:R398W;ENSP00000432591:R415W	ENSP00000278360:R455W	R	-	1	2	PAMR1	35414048	0.996000	0.38824	1.000000	0.80357	0.886000	0.51366	2.309000	0.43699	0.657000	0.30906	-0.314000	0.08810	CGG	PAMR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000149090		0.532	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	117	0.84	1	G	NM_015430		35457472	35457472	-1	no_errors	ENST00000278360	ensembl	human	known	69_37n	missense	81	42.96	61	SNP	1.000	A
PAPPA2	60676	genome.wustl.edu	37	1	176659424	176659424	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:176659424A>G	ENST00000367662.3	+	5	3453	c.2289A>G	c.(2287-2289)ccA>ccG	p.P763P	PAPPA2_ENST00000367661.3_Silent_p.P763P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	763					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGACAGTGCCATCCATGGAAA	0.552																																						dbGAP											0													119.0	124.0	122.0					1																	176659424		2037	4210	6247	-	-	-	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2289A>G	1.37:g.176659424A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P763	ENST00000367662.3	37	c.2289	CCDS41438.1	1																																																																																			PAPPA2	-	pfam_Peptidase_M43	ENSG00000116183		0.552	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	101	0.00	0	A			176659424	176659424	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	silent	177	16.51	35	SNP	0.907	G
PAQR3	152559	genome.wustl.edu	37	4	79847790	79847790	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:79847790G>A	ENST00000512733.1	-	4	800	c.587C>T	c.(586-588)aCg>aTg	p.T196M	PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.T196M|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	196					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCATTGCTGCGTGAGGTAATT	0.458																																						dbGAP											0													203.0	191.0	195.0					4																	79847790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.587C>T	4.37:g.79847790G>A	ENSP00000421981:p.Thr196Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	pfam_HlyIII-related	p.T196M	ENST00000512733.1	37	c.587	CCDS34020.1	4	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355723	0.61293	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.32023	1.47;1.47	5.88	5.88	0.94601	.	0.041428	0.85682	D	0.000000	T	0.49287	0.1548	M	0.66939	2.045	0.80722	D	1	P	0.42518	0.782	P	0.50791	0.65	T	0.36962	-0.9726	10	0.52906	T	0.07	-1.8795	20.2187	0.98312	0.0:0.0:1.0:0.0	.	196	Q6TCH7	PAQR3_HUMAN	M	196	ENSP00000421981:T196M;ENSP00000370019:T196M	ENSP00000344203:T196M	T	-	2	0	PAQR3	80066814	1.000000	0.71417	0.997000	0.53966	0.117000	0.20001	6.142000	0.71750	2.780000	0.95670	0.655000	0.94253	ACG	PAQR3	-	pfam_HlyIII-related	ENSG00000163291		0.458	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR3	HGNC	protein_coding	OTTHUMT00000363442.1	238	0.00	0	G	NM_177453		79847790	79847790	-1	no_errors	ENST00000511594	ensembl	human	known	69_37n	missense	168	33.86	86	SNP	0.999	A
PAQR3	152559	genome.wustl.edu	37	4	79860369	79860369	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:79860369T>C	ENST00000512733.1	-	1	223	c.10A>G	c.(10-12)Aag>Gag	p.K4E	PAQR3_ENST00000380645.4_Missense_Mutation_p.K4E|PAQR3_ENST00000295462.3_Missense_Mutation_p.K4E	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	4					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TTCAGCAGCTTCTGATGCATC	0.721																																						dbGAP											0													50.0	49.0	49.0					4																	79860369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.10A>G	4.37:g.79860369T>C	ENSP00000421981:p.Lys4Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	pfam_HlyIII-related	p.K4E	ENST00000512733.1	37	c.10	CCDS34020.1	4	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057243	0.76074	.	.	ENSG00000163291	ENST00000295462;ENST00000512733;ENST00000380645	T;T	0.33216	1.88;1.42	4.26	4.26	0.50523	.	0.051419	0.85682	D	0.000000	T	0.18383	0.0441	N	0.19112	0.55	0.58432	D	0.999996	P	0.40970	0.734	B	0.31495	0.131	T	0.09443	-1.0674	10	0.72032	D	0.01	4.1851	13.8212	0.63322	0.0:0.0:0.0:1.0	.	4	Q6TCH7	PAQR3_HUMAN	E	4	ENSP00000421981:K4E;ENSP00000370019:K4E	ENSP00000295462:K4E	K	-	1	0	PAQR3	80079393	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.237000	0.78164	1.900000	0.55004	0.460000	0.39030	AAG	PAQR3	-	NULL	ENSG00000163291		0.721	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR3	HGNC	protein_coding	OTTHUMT00000363442.1	41	0.00	0	T	NM_177453		79860369	79860369	-1	no_errors	ENST00000511594	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	1.000	C
PARP1	142	genome.wustl.edu	37	1	226573298	226573298	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											122.0	102.0	109.0					1																	226573298		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.918C>T	1.37:g.226573298G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANJ4|Q8IUZ9	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.S306	ENST00000366794.5	37	c.918	CCDS1554.1	1																																																																																			PARP1	-	pfam_PADR1,pirsf_NAD_ADPRT	ENSG00000143799		0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	159	0.00	0	G	NM_001618		226573298	226573298	-1	no_errors	ENST00000366794	ensembl	human	known	69_37n	silent	286	17.53	61	SNP	0.187	A
PASK	23178	genome.wustl.edu	37	2	242082328	242082328	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:242082328C>T	ENST00000405260.1	-	2	818	c.120G>A	c.(118-120)tcG>tcA	p.S40S	PASK_ENST00000358649.4_Silent_p.S40S|PASK_ENST00000544142.1_5'UTR|PASK_ENST00000403638.3_Silent_p.S40S|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.S40S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	40					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGAGGAAAACGACCTGCTGG	0.592																																						dbGAP											0													85.0	75.0	78.0					2																	242082328		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.120G>A	2.37:g.242082328C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.S40	ENST00000405260.1	37	c.120	CCDS2545.1	2																																																																																			PASK	-	NULL	ENSG00000115687		0.592	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	152	0.00	0	C	NM_015148		242082328	242082328	-1	no_errors	ENST00000358649	ensembl	human	known	69_37n	silent	105	34.78	56	SNP	0.000	T
PAX7	5081	genome.wustl.edu	37	1	18960957	18960957	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:18960957C>T	ENST00000375375.3	+	2	844	c.246C>T	c.(244-246)tgC>tgT	p.C82C	PAX7_ENST00000400661.3_Silent_p.C82C|PAX7_ENST00000420770.2_Silent_p.C82C	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	82	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.|Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCCACGGCTGCGTCTCCAAGA	0.632			T	FOXO1A	alveolar rhabdomyosarcoma																																	dbGAP		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													53.0	51.0	51.0					1																	18960957		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.246C>T	1.37:g.18960957C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,prints_Paired_dom,pfscan_Homeodomain,pfscan_Paired_dom	p.C82	ENST00000375375.3	37	c.246	CCDS186.1	1																																																																																			PAX7	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000009709		0.632	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	67	0.00	0	C	NM_002584		18960957	18960957	+1	no_errors	ENST00000375375	ensembl	human	known	69_37n	silent	49	41.18	35	SNP	0.968	T
PC	5091	genome.wustl.edu	37	11	66619987	66619987	+	Missense_Mutation	SNP	C	C	T	rs119103242		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:66619987C>T	ENST00000393958.2	-	14	1841	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.R583H|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.R583H	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	583	Carboxyltransferase.		R -> L (in PC deficiency). {ECO:0000269|PubMed:19306334}.		biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.R583H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCGTGGGTGCGCACACGAGT	0.617																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											71.0	69.0	70.0					11																	66619987		2200	4295	6495	-	-	-	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1748G>A	11.37:g.66619987C>T	ENSP00000377530:p.Arg583His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.R583H	ENST00000393958.2	37	c.1748	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078393	0.76528	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98381	-4.9;-4.9;-4.9	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99351	0.9772	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98674	1.0689	10	0.87932	D	0	-22.5396	16.9874	0.86344	0.0:1.0:0.0:0.0	.	583	P11498	PYC_HUMAN	H	583	ENSP00000377527:R583H;ENSP00000377530:R583H;ENSP00000377532:R583H	ENSP00000377527:R583H	R	-	2	0	PC	66376563	1.000000	0.71417	0.999000	0.59377	0.082000	0.17680	7.139000	0.77314	2.605000	0.88082	0.655000	0.94253	CGC	PC	-	pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase	ENSG00000173599		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	89	0.00	0	C	NM_001040716		66619987	66619987	-1	no_errors	ENST00000393958	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	1.000	T
PCBP3	54039	genome.wustl.edu	37	21	47361682	47361682	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:47361682G>A	ENST00000400314.1	+	0	1516				PCBP3_ENST00000400309.1_3'UTR|PCBP3_ENST00000400308.1_3'UTR|PCBP3_ENST00000400310.1_3'UTR|PCBP3_ENST00000449640.1_3'UTR			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGCTCTCGCACTCTGTAC	0.582																																						dbGAP											0													53.0	48.0	49.0					21																	47361682		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.*62G>A	21.37:g.47361682G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	RNA	SNP	-	NULL	ENST00000400314.1	37	NULL	CCDS42974.2	21																																																																																			PCBP3	-	-	ENSG00000183570		0.582	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	105	0.00	0	G			47361682	47361682	+1	no_errors	ENST00000475402	ensembl	human	known	69_37n	rna	56	45.10	46	SNP	0.002	A
PCCB	5096	genome.wustl.edu	37	3	136019953	136019953	+	Splice_Site	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:136019953T>G	ENST00000251654.4	+	9	1036	c.966T>G	c.(964-966)tcT>tcG	p.S322S	PCCB_ENST00000468777.1_Splice_Site_p.S353S|PCCB_ENST00000483687.1_Splice_Site_p.S303S|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000490504.1_Splice_Site_p.S265S|PCCB_ENST00000469217.1_Splice_Site_p.S342S|PCCB_ENST00000482086.1_Splice_Site_p.S206S|PCCB_ENST00000462637.1_Splice_Site_p.S299S|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000466072.1_Splice_Site_p.S322S|PCCB_ENST00000471595.1_Splice_Site_p.S322S	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	322	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TCATACACTCTGTAAGTGCCA	0.488																																						dbGAP											0													199.0	160.0	173.0					3																	136019953		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.966+1T>G	3.37:g.136019953T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2Z4|Q16813|Q96CX0	Silent	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.S322	ENST00000251654.4	37	c.966	CCDS3089.1	3																																																																																			PCCB	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000114054		0.488	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCCB	HGNC	protein_coding	OTTHUMT00000357335.1	404	0.25	1	T		Silent	136019953	136019953	+1	no_errors	ENST00000251654	ensembl	human	known	69_37n	silent	246	36.60	142	SNP	0.026	G
PCDH1	5097	genome.wustl.edu	37	5	141243711	141243711	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:141243711delG	ENST00000394536.3	-	3	2324	c.2185delC	c.(2185-2187)cagfs	p.Q729fs	PCDH1_ENST00000287008.3_Frame_Shift_Del_p.Q729fs|PCDH1_ENST00000536585.1_Frame_Shift_Del_p.Q707fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Frame_Shift_Del_p.Q717fs	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	729	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGACGTGTCTGGGGGGTCAGC	0.542																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													89.0	84.0	85.0					5																	141243711		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2185delC	5.37:g.141243711delG	ENSP00000378043:p.Gln729fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q729fs	ENST00000394536.3	37	c.2185	CCDS43375.1	5																																																																																			PCDH1	-	superfamily_Cadherin-like	ENSG00000156453		0.542	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	309	0.00	0	G	NM_032420		141243711	141243711	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	frame_shift_del	217	28.25	89	DEL	0.992	-
PCDH11X	27328	genome.wustl.edu	37	X	91873397	91873397	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:91873397G>A	ENST00000373094.1	+	7	4347	c.3502G>A	c.(3502-3504)Gcc>Acc	p.A1168T	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1150T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1131T|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1131T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1160T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1158T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1168					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCAAGCACAGGCCTCTGCTCT	0.567																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													160.0	131.0	141.0					X																	91873397		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3502G>A	X.37:g.91873397G>A	ENSP00000362186:p.Ala1168Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1168T	ENST00000373094.1	37	c.3502	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	5.826	0.336587	0.11013	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52057	0.68;0.7;0.72;0.68;0.7;0.72	3.84	-4.22	0.03800	.	0.684259	0.11756	N	0.532548	T	0.13628	0.0330	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.002;0.002;0.002;0.001	B;B;B;B;B	0.10450	0.005;0.003;0.003;0.003;0.001	T	0.26916	-1.0089	10	0.14656	T	0.56	.	6.213	0.20640	0.5394:0.1326:0.328:0.0	.	1131;1150;1160;1158;1168	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1168;1158;1131;1150;1160;1168;1131	ENSP00000362186:A1168T;ENSP00000362189:A1158T;ENSP00000362180:A1131T;ENSP00000355105:A1150T;ENSP00000384758:A1160T;ENSP00000298274:A1131T	ENSP00000298274:A1131T	A	+	1	0	PCDH11X	91760053	0.083000	0.21467	0.000000	0.03702	0.012000	0.07955	0.099000	0.15210	-1.481000	0.01863	-0.434000	0.05882	GCC	PCDH11X	-	NULL	ENSG00000102290		0.567	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	468	0.21	1	G	NM_032969		91873397	91873397	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	317	36.74	187	SNP	0.001	A
PCDH15	65217	genome.wustl.edu	37	10	55566571	55566572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:55566571_55566572insT	ENST00000373965.2	-	36	5216_5217	c.4822_4823insA	c.(4822-4824)atgfs	p.M1608fs	PCDH15_ENST00000414778.1_Frame_Shift_Ins_p.M1605fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTGCATTCATTTTTTCAGTA	0.46										HNSCC(58;0.16)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4823dupA	10.37:g.55566577_55566577dupT	ENSP00000363076:p.Met1608fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.M1605fs	ENST00000373965.2	37	c.4814_4813		10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.460	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291336.1	425	0.00	0	-	NM_033056		55566571	55566572	-1	no_errors	ENST00000414778	ensembl	human	known	69_37n	frame_shift_ins	298	32.12	141	INS	1.000:1.000	T
PCDH19	57526	genome.wustl.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											43.0	47.0	46.0					X																	99662505		2188	4265	6453	-	-	-	SO:0001589	frameshift_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P364fs	ENST00000373034.4	37	c.1091	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	90	0.00	0	G	NM_020766		99662505	99662505	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	frame_shift_del	52	30.26	23	DEL	1.000	-
PCDHA8	56140	genome.wustl.edu	37	5	140222350	140222350	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140222350G>A	ENST00000531613.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.A482T|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657																																						dbGAP											0													47.0	53.0	51.0					5																	140222350		2195	4261	6456	-	-	-	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1444G>A	5.37:g.140222350G>A	ENSP00000434655:p.Ala482Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A482T	ENST00000531613.1	37	c.1444	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	9.302	1.053320	0.19907	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61859	0.07;0.07	3.72	2.74	0.32292	Cadherin (4);Cadherin-like (1);	0.226336	0.21629	U	0.071513	T	0.49167	0.1541	L	0.48935	1.535	0.09310	N	1	B;B	0.33171	0.187;0.4	B;B	0.36719	0.231;0.226	T	0.49457	-0.8938	10	0.62326	D	0.03	.	8.1567	0.31173	0.0:0.279:0.5938:0.1271	.	482;482	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	482	ENSP00000434655:A482T;ENSP00000367363:A482T	ENSP00000367363:A482T	A	+	1	0	PCDHA8	140202534	0.000000	0.05858	0.911000	0.35937	0.055000	0.15305	-0.225000	0.09151	1.790000	0.52503	0.306000	0.20318	GCG	PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	92	0.00	0	G	NM_018911		140222350	140222350	+1	no_errors	ENST00000531613	ensembl	human	known	69_37n	missense	66	44.54	53	SNP	0.168	A
PCDHA10	56139	genome.wustl.edu	37	5	140236951	140236951	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140236951G>A	ENST00000307360.5	+	1	1318	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V440M	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCAGCGTGTCTGTGGA	0.682																																						dbGAP											0													97.0	93.0	94.0					5																	140236951		2197	4272	6469	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1318G>A	5.37:g.140236951G>A	ENSP00000304234:p.Val440Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V440M	ENST00000307360.5	37	c.1318	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132653	0.37630	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.33216	1.42;1.42	3.96	3.08	0.35506	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.40423	0.1116	M	0.78285	2.405	0.09310	N	1	D;D;P	0.60575	0.988;0.983;0.944	P;B;P	0.51229	0.663;0.378;0.526	T	0.34329	-0.9833	9	0.62326	D	0.03	.	4.2137	0.10524	0.09:0.1715:0.5848:0.1537	.	440;440;440	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	M	440	ENSP00000421030:V440M;ENSP00000304234:V440M	ENSP00000304234:V440M	V	+	1	0	PCDHA10	140217135	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	-1.172000	0.03112	0.990000	0.38787	0.556000	0.70494	GTG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000250120		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	149	0.00	0	G	NM_018901		140236951	140236951	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	111	36.93	65	SNP	0.225	A
PCDHB8	56128	genome.wustl.edu	37	5	140558614	140558614	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140558614C>T	ENST00000239444.2	+	1	1244	c.999C>T	c.(997-999)acC>acT	p.T333T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAATGCACCGTTCTGATTC	0.433																																						dbGAP											0													191.0	261.0	238.0					5																	140558614		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.999C>T	5.37:g.140558614C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T333	ENST00000239444.2	37	c.999	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.433	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	316	0.63	2	C	NM_019120		140558614	140558614	+1	no_errors	ENST00000239444	ensembl	human	known	69_37n	silent	273	22.00	77	SNP	0.000	T
PCDHB12	56124	genome.wustl.edu	37	5	140588743	140588743	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140588743A>G	ENST00000239450.2	+	1	453	c.264A>G	c.(262-264)gaA>gaG	p.E88E	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGAGAGAAATGCTAGACA	0.488																																						dbGAP											0													72.0	81.0	78.0					5																	140588743		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.264A>G	5.37:g.140588743A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E88	ENST00000239450.2	37	c.264	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.488	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	194	0.00	0	A	NM_018932		140588743	140588743	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	silent	126	36.82	74	SNP	0.410	G
PCDHGA1	56114	genome.wustl.edu	37	5	140711001	140711001	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140711001T>C	ENST00000517417.1	+	1	750	c.750T>C	c.(748-750)aaT>aaC	p.N250N	PCDHGA1_ENST00000378105.3_Silent_p.N250N|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATATAAATGTCCCCGAAA	0.498																																						dbGAP											0													65.0	65.0	65.0					5																	140711001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.750T>C	5.37:g.140711001T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N250	ENST00000517417.1	37	c.750	CCDS54922.1	5																																																																																			PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000204956		0.498	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	115	0.00	0	T	NM_018912		140711001	140711001	+1	no_errors	ENST00000517417	ensembl	human	known	69_37n	silent	63	49.19	61	SNP	0.001	C
PCDHGA3	56112	genome.wustl.edu	37	5	140725634	140725634	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140725634C>T	ENST00000253812.6	+	1	2034	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGCCTCGAGCCCTCCG	0.687																																						dbGAP											0													23.0	29.0	27.0					5																	140725634		2198	4262	6460	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2034C>T	5.37:g.140725634C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L678	ENST00000253812.6	37	c.2034	CCDS47290.1	5																																																																																			PCDHGA3	-	pfscan_Cadherin	ENSG00000254245		0.687	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	127	0.78	1	C	NM_018916		140725634	140725634	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	76	34.48	40	SNP	0.000	T
PCDHGC4	56098	genome.wustl.edu	37	5	140866005	140866005	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140866005A>G	ENST00000306593.1	+	1	1265	c.1265A>G	c.(1264-1266)gAc>gGc	p.D422G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGCTATGACATCATGGTC	0.483																																						dbGAP											0													87.0	75.0	79.0					5																	140866005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1265A>G	5.37:g.140866005A>G	ENSP00000306918:p.Asp422Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D422G	ENST00000306593.1	37	c.1265	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	A	10.11	1.259030	0.23051	.	.	ENSG00000242419	ENST00000306593	T	0.01685	4.69	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06645	0.0170	M	0.83603	2.65	0.26774	N	0.969732	B;B	0.26809	0.056;0.16	B;B	0.37989	0.061;0.262	T	0.02385	-1.1167	9	0.59425	D	0.04	.	14.5603	0.68130	1.0:0.0:0.0:0.0	.	422;422	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	G	422	ENSP00000306918:D422G	ENSP00000306918:D422G	D	+	2	0	PCDHGC4	140846189	0.092000	0.21681	1.000000	0.80357	0.997000	0.91878	1.018000	0.30002	2.099000	0.63709	0.460000	0.39030	GAC	PCDHGC4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000242419		0.483	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	119	0.00	0	A	NM_018928		140866005	140866005	+1	no_errors	ENST00000306593	ensembl	human	known	69_37n	missense	62	44.64	50	SNP	1.000	G
PCDHGC5	56097	genome.wustl.edu	37	5	140870733	140870733	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:140870733G>A	ENST00000252087.1	+	1	1926	c.1926G>A	c.(1924-1926)caG>caA	p.Q642Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACACCCAGCAGGTGGTGG	0.597																																						dbGAP											0													80.0	74.0	76.0					5																	140870733		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1926G>A	5.37:g.140870733G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q642	ENST00000252087.1	37	c.1926	CCDS4263.1	5																																																																																			PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.597	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	145	0.00	0	G	NM_018929		140870733	140870733	+1	no_errors	ENST00000252087	ensembl	human	known	69_37n	silent	86	38.57	54	SNP	0.993	A
PCK2	5106	genome.wustl.edu	37	14	24572012	24572012	+	Missense_Mutation	SNP	C	C	T	rs559309673		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:24572012C>T	ENST00000216780.4	+	8	1553	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	PCK2_ENST00000558096.1_Missense_Mutation_p.R295C|PCK2_ENST00000561286.1_Missense_Mutation_p.R295C|PCK2_ENST00000545054.2_Missense_Mutation_p.R295C|PCK2_ENST00000559250.1_Missense_Mutation_p.R441C|NRL_ENST00000561028.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	429					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGCCCCGGCTCGCCAGTGCCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													94.0	101.0	99.0					14																	24572012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1285C>T	14.37:g.24572012C>T	ENSP00000216780:p.Arg429Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.R429C	ENST00000216780.4	37	c.1285	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483920	0.84854	.	.	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.04603	3.59;3.59	5.69	5.69	0.88448	.	0.232813	0.43260	D	0.000600	T	0.08626	0.0214	N	0.25890	0.77	0.41847	D	0.990158	D;B;B	0.55800	0.973;0.299;0.299	P;B;B	0.53954	0.738;0.098;0.098	T	0.05971	-1.0853	10	0.72032	D	0.01	-9.0203	12.9624	0.58466	0.0:0.8375:0.1625:0.0	.	295;429;429	B4DW73;Q16822;Q6IB91	.;PCKGM_HUMAN;.	C	429;295	ENSP00000216780:R429C;ENSP00000441826:R295C	ENSP00000216780:R429C	R	+	1	0	PCK2	23641852	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	0.436000	0.21526	2.696000	0.92011	0.655000	0.94253	CGC	PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.557	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	127	0.78	1	C	NM_001018073		24572012	24572012	+1	no_errors	ENST00000216780	ensembl	human	known	69_37n	missense	85	35.11	46	SNP	1.000	T
PCMTD2	55251	genome.wustl.edu	37	20	62899302	62899302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:62899302delT	ENST00000308824.6	+	5	772	c.645delT	c.(643-645)tctfs	p.S215fs	PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.S215fs|PCMTD2_ENST00000369758.4_Intron	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	215						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGTTTCTTTTGCTCCTC	0.378																																						dbGAP											0													105.0	99.0	101.0					20																	62899302		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.645delT	20.37:g.62899302delT	ENSP00000307854:p.Ser215fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5H3|Q8IW60|Q9H4K2	Frame_Shift_Del	DEL	pfam_PCMT	p.F216fs	ENST00000308824.6	37	c.645	CCDS13559.1	20																																																																																			PCMTD2	-	pfam_PCMT	ENSG00000203880		0.378	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCMTD2	HGNC	protein_coding	OTTHUMT00000080301.1	256	0.00	0	T	NM_018257		62899302	62899302	+1	no_errors	ENST00000308824	ensembl	human	known	69_37n	frame_shift_del	189	37.58	115	DEL	0.997	-
PDCD11	22984	genome.wustl.edu	37	10	105181188	105181188	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:105181188T>C	ENST00000369797.3	+	17	2455	c.2361T>C	c.(2359-2361)gaT>gaC	p.D787D		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	787	S1 motif 8. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAATGTGGATGAGGAGAAGC	0.547																																						dbGAP											0													68.0	57.0	61.0					10																	105181188		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2361T>C	10.37:g.105181188T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.D787	ENST00000369797.3	37	c.2361	CCDS31276.1	10																																																																																			PDCD11	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	ENSG00000148843		0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	174	0.00	0	T			105181188	105181188	+1	no_errors	ENST00000369797	ensembl	human	known	69_37n	silent	122	37.88	75	SNP	0.982	C
PDCD6	10016	genome.wustl.edu	37	5	306729	306729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:306729delG	ENST00000264933.4	+	4	321	c.221delG	c.(220-222)cgtfs	p.R74fs	PDCD6_ENST00000507528.1_Frame_Shift_Del_p.R74fs|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000505221.1_Intron|AHRR_ENST00000316418.5_Intron	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6	74	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			ATGTTTGACCGTGAGAACAAG	0.562																																						dbGAP											0													79.0	65.0	70.0					5																	306729		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"""EF-hand domain containing"""	8765	protein-coding gene	gene with protein product	"""apoptosis-linked gene-2"""	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.221delG	5.37:g.306729delG	ENSP00000264933:p.Arg74fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Frame_Shift_Del	DEL	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R74fs	ENST00000264933.4	37	c.221	CCDS3854.1	5																																																																																			PDCD6	-	smart_EF_hand_Ca-bd	ENSG00000249915		0.562	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDCD6	HGNC	protein_coding	OTTHUMT00000206609.2	63	0.00	0	G	NM_013232		306729	306729	+1	no_errors	ENST00000264933	ensembl	human	known	69_37n	frame_shift_del	52	29.87	23	DEL	0.997	-
PDE5A	8654	genome.wustl.edu	37	4	120422366	120422366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:120422366G>A	ENST00000354960.3	-	20	2768	c.2449C>T	c.(2449-2451)Caa>Taa	p.Q817*	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Nonsense_Mutation_p.Q765*|PDE5A_ENST00000264805.5_Nonsense_Mutation_p.Q775*	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	817	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AACCCAACTTGCATACTTGGG	0.343																																						dbGAP											0													168.0	167.0	167.0					4																	120422366		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2449C>T	4.37:g.120422366G>A	ENSP00000347046:p.Gln817*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Q817*	ENST00000354960.3	37	c.2449	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365569	0.82463	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7787	0.96409	0.0:0.0:1.0:0.0	.	.	.	.	X	817;765;775	.	ENSP00000264805:Q775X	Q	-	1	0	PDE5A	120641814	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.124000	0.94394	2.689000	0.91719	0.305000	0.20034	CAA	PDE5A	-	pfam_PDEase_catalytic_dom	ENSG00000138735		0.343	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	479	0.21	1	G	NM_001083		120422366	120422366	-1	no_errors	ENST00000354960	ensembl	human	known	69_37n	nonsense	296	35.57	164	SNP	1.000	A
PDE5A	8654	genome.wustl.edu	37	4	120460122	120460122	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:120460122G>A	ENST00000354960.3	-	11	1944	c.1625C>T	c.(1624-1626)tCg>tTg	p.S542L	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Missense_Mutation_p.S490L|PDE5A_ENST00000264805.5_Missense_Mutation_p.S500L|PDE5A_ENST00000512739.1_5'UTR	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	542					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TACCGCTAACGACTGTAGCTC	0.358																																						dbGAP											0													144.0	158.0	153.0					4																	120460122		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1625C>T	4.37:g.120460122G>A	ENSP00000347046:p.Ser542Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S542L	ENST00000354960.3	37	c.1625	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520237	0.44866	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.63096	-0.02;0.05;0.05	5.8	5.8	0.92144	.	0.508000	0.20331	N	0.094432	T	0.46698	0.1406	N	0.25485	0.75	0.32006	N	0.602667	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50206	-0.8855	10	0.42905	T	0.14	.	7.986	0.30212	0.1913:0.0:0.8087:0.0	.	542;500	O76074;O76074-2	PDE5A_HUMAN;.	L	542;490;500	ENSP00000347046:S542L;ENSP00000377957:S490L;ENSP00000264805:S500L	ENSP00000264805:S500L	S	-	2	0	PDE5A	120679570	1.000000	0.71417	0.843000	0.33291	0.886000	0.51366	6.788000	0.75105	2.740000	0.93945	0.650000	0.86243	TCG	PDE5A	-	NULL	ENSG00000138735		0.358	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	114	0.00	0	G	NM_001083		120460122	120460122	-1	no_errors	ENST00000354960	ensembl	human	known	69_37n	missense	78	36.07	44	SNP	1.000	A
PDX1	3651	genome.wustl.edu	37	13	28498618	28498618	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:28498618G>A	ENST00000381033.4	+	2	751	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	81	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		AAGCGCGGCGGCGGGACAGCT	0.662																																						dbGAP											0													26.0	28.0	27.0					13																	28498618		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.632G>A	13.37:g.28498618G>A	ENSP00000370421:p.Gly211Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.G211D	ENST00000381033.4	37	c.632	CCDS9327.1	13	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821642	0.50633	.	.	ENSG00000139515	ENST00000381033	D	0.90788	-2.73	4.86	4.86	0.63082	.	0.268520	0.40469	N	0.001099	T	0.80844	0.4701	N	0.14661	0.345	0.28684	N	0.904937	B	0.02656	0.0	B	0.04013	0.001	T	0.64918	-0.6294	10	0.11182	T	0.66	.	13.7599	0.62959	0.0776:0.0:0.9224:0.0	.	211	P52945	PDX1_HUMAN	D	211	ENSP00000370421:G211D	ENSP00000370421:G211D	G	+	2	0	PDX1	27396618	1.000000	0.71417	0.498000	0.27564	0.899000	0.52679	5.425000	0.66470	2.382000	0.81193	0.555000	0.69702	GGC	PDX1	-	NULL	ENSG00000139515		0.662	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDX1	HGNC	protein_coding	OTTHUMT00000044310.2	63	0.00	0	G	NM_000209		28498618	28498618	+1	no_errors	ENST00000381033	ensembl	human	known	69_37n	missense	41	36.92	24	SNP	0.998	A
PDZD4	57595	genome.wustl.edu	37	X	153073863	153073863	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153073863G>A	ENST00000164640.4	-	2	439	c.248C>T	c.(247-249)gCg>gTg	p.A83V	PDZD4_ENST00000393758.2_Missense_Mutation_p.A2V|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	83						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGCCCAGCGCCATGATATG	0.682																																						dbGAP											0													55.0	41.0	45.0					X																	153073863		2201	4298	6499	-	-	-	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.248C>T	X.37:g.153073863G>A	ENSP00000164640:p.Ala83Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A83V	ENST00000164640.4	37	c.248	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343853	0.61073	.	.	ENSG00000067840	ENST00000164640;ENST00000393758	T;T	0.07216	3.44;3.21	5.52	4.65	0.58169	.	0.196215	0.45126	D	0.000399	T	0.11965	0.0291	L	0.49126	1.545	0.30624	N	0.758198	P;P;B	0.51653	0.947;0.918;0.396	P;B;B	0.44422	0.449;0.17;0.086	T	0.02257	-1.1187	10	0.87932	D	0	-27.6628	13.4409	0.61112	0.0:0.2916:0.7084:0.0	.	83;83;2	Q17RL8;Q76G19;D3DWW0	.;PDZD4_HUMAN;.	V	83;2	ENSP00000164640:A83V;ENSP00000377355:A2V	ENSP00000164640:A83V	A	-	2	0	PDZD4	152727057	1.000000	0.71417	1.000000	0.80357	0.118000	0.20060	6.490000	0.73645	1.088000	0.41272	-0.223000	0.12442	GCG	PDZD4	-	NULL	ENSG00000067840		0.682	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	35	0.00	0	G	NM_032512		153073863	153073863	-1	no_errors	ENST00000164640	ensembl	human	known	69_37n	missense	17	43.33	13	SNP	1.000	A
PDZD9	255762	genome.wustl.edu	37	16	21995786	21995786	+	Silent	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:21995786T>G	ENST00000424898.2	-	4	659	c.597A>C	c.(595-597)ggA>ggC	p.G199G	PDZD9_ENST00000537222.2_Silent_p.G139G|PDZD9_ENST00000286143.6_Silent_p.G137G			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	199										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TAATGTCTTTTCCTACACTAA	0.433																																						dbGAP											0													205.0	187.0	193.0					16																	21995786		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.597A>C	16.37:g.21995786T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F5GWW8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G199	ENST00000424898.2	37	c.597		16																																																																																			PDZD9	-	NULL	ENSG00000155714		0.433	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1	398	0.00	0	T	NM_173806		21995786	21995786	-1	no_errors	ENST00000424898	ensembl	human	known	69_37n	silent	283	41.48	202	SNP	0.767	G
PDZRN3	23024	genome.wustl.edu	37	3	73433945	73433945	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:73433945T>C	ENST00000263666.4	-	10	1886	c.1772A>G	c.(1771-1773)gAc>gGc	p.D591G	PDZRN3_ENST00000466780.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D313G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D248G|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D308G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	591					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G590fs*73(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGTGGCGTCGTCGCCATTGTT	0.642																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											81.0	73.0	76.0					3																	73433945		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1772A>G	3.37:g.73433945T>C	ENSP00000263666:p.Asp591Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.D591G	ENST00000263666.4	37	c.1772	CCDS33789.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.56|13.56	2.275110|2.275110	0.40194|0.40194	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.12879|.	2.64;3.35;3.23;3.23;3.35;3.31|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	1.169940|.	0.06737|.	U|.	0.777761|.	T|T	0.73768|0.73768	0.3629|0.3629	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	P;B;P;B|.	0.47191|.	0.891;0.376;0.825;0.143|.	P;B;P;B|.	0.54759|.	0.76;0.177;0.58;0.136|.	T|T	0.75172|0.75172	-0.3411|-0.3411	10|5	0.87932|.	D|.	0|.	.|.	14.1332|14.1332	0.65268|0.65268	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	313;308;308;591|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	G|A	591;313;248;248;308;591;289|188	ENSP00000263666:D591G;ENSP00000442026:D313G;ENSP00000418168:D248G;ENSP00000418484:D248G;ENSP00000418624:D308G;ENSP00000419250:D289G|.	ENSP00000263666:D591G|.	D|T	-|-	2|1	0|0	PDZRN3|PDZRN3	73516635|73516635	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.508000|0.508000	0.34012|0.34012	7.673000|7.673000	0.83973|0.83973	1.995000|1.995000	0.58328|0.58328	0.533000|0.533000	0.62120|0.62120	GAC|ACG	PDZRN3	-	NULL	ENSG00000121440		0.642	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	131	0.00	0	T	XM_041363		73433945	73433945	-1	no_errors	ENST00000263666	ensembl	human	known	69_37n	missense	68	39.82	45	SNP	1.000	C
PEBP4	157310	genome.wustl.edu	37	8	22675167	22675167	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:22675167G>A	ENST00000256404.6	-	4	431	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	114						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCTGTTACCAGCCAATGTCTC	0.498																																						dbGAP											0													115.0	117.0	116.0					8																	22675167		1979	4153	6132	-	-	-	SO:0001819	synonymous_variant	0			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.340C>T	8.37:g.22675167G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EVA1|Q8WW74	Silent	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.L114	ENST00000256404.6	37	c.340	CCDS43724.1	8																																																																																			PEBP4	-	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	ENSG00000134020		0.498	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEBP4	HGNC	protein_coding	OTTHUMT00000375141.2	275	0.72	2	G	NM_144962		22675167	22675167	-1	no_errors	ENST00000256404	ensembl	human	known	69_37n	silent	156	38.91	100	SNP	1.000	A
PEX1	5189	genome.wustl.edu	37	7	92129118	92129118	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:92129118T>C	ENST00000248633.4	-	16	2713	c.2618A>G	c.(2617-2619)cAa>cGa	p.Q873R	PEX1_ENST00000438045.1_Missense_Mutation_p.Q551R|PEX1_ENST00000428214.1_Missense_Mutation_p.Q816R|PEX1_ENST00000541751.1_3'UTR	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	873					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCCTGTTCTTTGTCGTATGGG	0.368																																						dbGAP											0													124.0	122.0	123.0					7																	92129118		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2618A>G	7.37:g.92129118T>C	ENSP00000248633:p.Gln873Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.Q873R	ENST00000248633.4	37	c.2618	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	T	8.453	0.853634	0.17106	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94576	-3.46;-3.46;-3.46	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);	0.173933	0.53938	D	0.000059	D	0.91533	0.7326	L	0.39898	1.24	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.11329	0.006;0.002;0.002	D	0.88022	0.2769	10	0.44086	T	0.13	-5.0583	15.643	0.77020	0.0:0.0:0.0:1.0	.	551;665;873	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	R	551;873;816	ENSP00000410438:Q551R;ENSP00000248633:Q873R;ENSP00000394413:Q816R	ENSP00000248633:Q873R	Q	-	2	0	PEX1	91967054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.874000	0.69652	2.107000	0.64212	0.528000	0.53228	CAA	PEX1	-	smart_AAA+_ATPase	ENSG00000127980		0.368	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	246	0.00	0	T	NM_000466		92129118	92129118	-1	no_errors	ENST00000248633	ensembl	human	known	69_37n	missense	177	35.40	97	SNP	1.000	C
PFKM	5213	genome.wustl.edu	37	12	48531564	48531564	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:48531564G>A	ENST00000312352.7	+	11	1036	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	PFKM_ENST00000359794.5_Missense_Mutation_p.A333T|PFKM_ENST00000551804.1_Missense_Mutation_p.A302T|PFKM_ENST00000395233.2_Missense_Mutation_p.A302T|PFKM_ENST00000340802.6_Missense_Mutation_p.A404T|PFKM_ENST00000547587.1_Missense_Mutation_p.A333T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	333	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGATACCCCAGCCTGTGTAGT	0.562																																						dbGAP											0													136.0	123.0	127.0					12																	48531564		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.997G>A	12.37:g.48531564G>A	ENSP00000309438:p.Ala333Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A333T	ENST00000312352.7	37	c.997	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944739	0.92593	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.55	4.55	0.56014	Phosphofructokinase domain (1);	0.056926	0.64402	D	0.000002	D	0.86682	0.5991	L	0.58101	1.795	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.987	D;P;P	0.66497	0.944;0.845;0.621	D	0.86241	0.1643	10	0.42905	T	0.14	-18.0032	16.6462	0.85177	0.0:0.0:1.0:0.0	.	302;333;404	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	404;333;302;302;333;333	ENSP00000345771:A404T;ENSP00000352842:A333T;ENSP00000378656:A302T;ENSP00000448177:A302T;ENSP00000449426:A333T;ENSP00000309438:A333T	ENSP00000309438:A333T	A	+	1	0	PFKM	46817831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.647000	0.98478	2.533000	0.85409	0.643000	0.83706	GCC	PFKM	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.562	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	236	0.00	0	G	NM_000289		48531564	48531564	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	missense	164	35.77	93	SNP	1.000	A
PFKP	5214	genome.wustl.edu	37	10	3174632	3174632	+	Splice_Site	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:3174632A>G	ENST00000381125.4	+	18	1985	c.1909A>G	c.(1909-1911)Aga>Gga	p.R637G	PFKP_ENST00000381072.1_Splice_Site_p.R55G|PFKP_ENST00000381075.2_Splice_Site_p.R629G	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	637	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTTGTGCTCAGGTGAGAGAG	0.483																																						dbGAP											0													114.0	112.0	113.0					10																	3174632		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1910+1A>G	10.37:g.3174632A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R637G	ENST00000381125.4	37	c.1909	CCDS7059.1	10	.	.	.	.	.	.	.	.	.	.	a	16.37	3.105086	0.56291	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.76186	-1.0;-1.0;-1.0	5.04	3.91	0.45181	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.88129	0.2837	10	0.87932	D	0	.	9.1368	0.36879	0.9127:0.0:0.0872:0.0	.	629;629;637	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	G	637;626;629;55	ENSP00000370517:R637G;ENSP00000370465:R629G;ENSP00000370462:R55G	ENSP00000370462:R55G	R	+	1	2	PFKP	3164632	0.999000	0.42202	1.000000	0.80357	0.673000	0.39480	2.376000	0.44292	0.767000	0.33267	-0.263000	0.10527	AGA	PFKP	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000067057		0.483	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1	131	0.76	1	A	NM_002627	Missense_Mutation	3174632	3174632	+1	no_errors	ENST00000381125	ensembl	human	known	69_37n	missense	115	32.75	56	SNP	1.000	G
PGA5	5222	genome.wustl.edu	37	11	61017472	61017472	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:61017472G>A	ENST00000312403.5	+	8	1188	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	PGA5_ENST00000451616.2_Missense_Mutation_p.A181T|CTD-2331C18.5_ENST00000537594.1_RNA|PGA5_ENST00000541528.1_Missense_Mutation_p.A75T|PGA4_ENST00000422676.2_Missense_Mutation_p.A335T	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	335					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						GCCACCCAGTGCCTACATCCT	0.567																																						dbGAP											0													50.0	44.0	46.0					11																	61017472		2202	4294	6496	-	-	-	SO:0001583	missense	0			BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1003G>A	11.37:g.61017472G>A	ENSP00000309542:p.Ala335Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.A335T	ENST00000312403.5	37	c.1003	CCDS8001.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490851	0.84962	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	3.52	2.57	0.30868	.	0.078061	0.49916	D	0.000138	T	0.73598	0.3607	M	0.84082	2.675	0.33449	D	0.583425	D	0.71674	0.998	D	0.68039	0.955	T	0.81760	-0.0785	10	0.72032	D	0.01	.	11.0198	0.47711	0.0:0.0:0.7989:0.201	.	335	B7ZW62	.	T	335;335;194;181;75	ENSP00000395402:A335T;ENSP00000309542:A335T;ENSP00000408739:A181T;ENSP00000441981:A75T	ENSP00000395402:A335T	A	+	1	0	PGA4;PGA5	60774048	1.000000	0.71417	0.967000	0.41034	0.726000	0.41606	4.015000	0.57152	0.791000	0.33826	0.430000	0.28490	GCC	PGA5	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000256713		0.567	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA5	HGNC	protein_coding	OTTHUMT00000397972.1	202	0.00	0	G	NM_014224		61017472	61017472	+1	no_errors	ENST00000312403	ensembl	human	known	69_37n	missense	118	43.19	92	SNP	0.964	A
PGS1	9489	genome.wustl.edu	37	17	76388701	76388701	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76388701C>T	ENST00000262764.6	+	2	314	c.288C>T	c.(286-288)caC>caT	p.H96H	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	96					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCAGTTCTCACGTTAGGGTGC	0.512																																					Esophageal Squamous(45;182 1126 10685 43198)	dbGAP											0													83.0	86.0	85.0					17																	76388701		1889	4117	6006	-	-	-	SO:0001819	synonymous_variant	0				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.288C>T	17.37:g.76388701C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	NULL	p.R84C	ENST00000262764.6	37	c.250	CCDS42391.1	17																																																																																			PGS1	-	NULL	ENSG00000087157		0.512	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	HGNC	protein_coding	OTTHUMT00000437301.1	134	0.00	0	C	NM_024419		76388701	76388701	+1	no_errors	ENST00000588169	ensembl	human	known	69_37n	missense	294	17.42	62	SNP	0.067	T
PHF14	9678	genome.wustl.edu	37	7	11022504	11022504	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:11022504T>C	ENST00000403050.3	+	3	1070	c.618T>C	c.(616-618)taT>taC	p.Y206Y	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	206					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGGATGACTATGACAGTGAGG	0.458																																						dbGAP											0													83.0	81.0	82.0					7																	11022504		2085	4227	6312	-	-	-	SO:0001819	synonymous_variant	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.618T>C	7.37:g.11022504T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Y206	ENST00000403050.3	37	c.618	CCDS47542.1	7																																																																																			PHF14	-	NULL	ENSG00000106443		0.458	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	411	0.00	0	T	NM_014660		11022504	11022504	+1	no_errors	ENST00000403050	ensembl	human	known	69_37n	silent	250	39.76	165	SNP	1.000	C
PHF14	9678	genome.wustl.edu	37	7	11075296	11075296	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:11075296T>C	ENST00000403050.3	+	8	1937	c.1485T>C	c.(1483-1485)tgT>tgC	p.C495C	PHF14_ENST00000445996.2_Silent_p.C210C	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	495					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTGCTTATTGTAAGCAACATG	0.358																																						dbGAP											0													145.0	143.0	144.0					7																	11075296		1848	4093	5941	-	-	-	SO:0001819	synonymous_variant	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1485T>C	7.37:g.11075296T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ3|B4DI82	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C495	ENST00000403050.3	37	c.1485	CCDS47542.1	7																																																																																			PHF14	-	smart_Znf_PHD	ENSG00000106443		0.358	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	264	0.00	0	T	NM_014660		11075296	11075296	+1	no_errors	ENST00000403050	ensembl	human	known	69_37n	silent	207	41.69	148	SNP	1.000	C
PHIP	55023	genome.wustl.edu	37	6	79698060	79698060	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:79698060C>T	ENST00000275034.4	-	21	2493	c.2326G>A	c.(2326-2328)Gct>Act	p.A776T		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	776					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCTCATGAGCATGATTCTAG	0.299																																						dbGAP											0													103.0	94.0	97.0					6																	79698060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2326G>A	6.37:g.79698060C>T	ENSP00000275034:p.Ala776Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.A776T	ENST00000275034.4	37	c.2326	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	8.598	0.886148	0.17540	.	.	ENSG00000146247	ENST00000275034	T	0.29917	1.55	4.35	-0.993	0.10228	.	0.273856	0.30911	N	0.008630	T	0.05777	0.0151	L	0.29908	0.895	0.36255	D	0.854171	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19160	-1.0314	9	.	.	.	-4.4665	3.4604	0.07531	0.2478:0.34:0.0:0.4122	.	776;776	A7J992;Q8WWQ0	.;PHIP_HUMAN	T	776	ENSP00000275034:A776T	.	A	-	1	0	PHIP	79754779	0.998000	0.40836	0.999000	0.59377	0.970000	0.65996	0.387000	0.20718	0.077000	0.16863	-0.237000	0.12165	GCT	PHIP	-	NULL	ENSG00000146247		0.299	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	254	0.00	0	C			79698060	79698060	-1	no_errors	ENST00000275034	ensembl	human	known	69_37n	missense	198	38.01	122	SNP	0.996	T
PHKB	5257	genome.wustl.edu	37	16	47682455	47682455	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:47682455G>A	ENST00000323584.5	+	17	1644	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q	PHKB_ENST00000566044.1_Silent_p.Q533Q|PHKB_ENST00000299167.8_Silent_p.Q540Q|PHKB_ENST00000455779.1_Silent_p.Q533Q	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	540					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTTATTTGCAGCTGGGTATCA	0.423																																						dbGAP											0													144.0	159.0	154.0					16																	47682455		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1620G>A	16.37:g.47682455G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N4T5	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q540	ENST00000323584.5	37	c.1620	CCDS10729.1	16																																																																																			PHKB	-	pfam_Glyco_hydro_15	ENSG00000102893		0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	261	0.00	0	G			47682455	47682455	+1	no_errors	ENST00000299167	ensembl	human	known	69_37n	silent	195	34.12	101	SNP	0.989	A
PHLDB2	90102	genome.wustl.edu	37	3	111681100	111681100	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:111681100C>T	ENST00000431670.2	+	13	3429	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	PHLDB2_ENST00000393923.3_Silent_p.L990L|PHLDB2_ENST00000412622.1_Silent_p.L963L|PHLDB2_ENST00000393925.3_Silent_p.L1006L|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Silent_p.L963L|PHLDB2_ENST00000495180.1_Silent_p.L497L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1006						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTCTGAGCCTCGATAGCTCTG	0.413																																						dbGAP											0													122.0	117.0	119.0					3																	111681100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3018C>T	3.37:g.111681100C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1006	ENST00000431670.2	37	c.3018	CCDS46886.1	3																																																																																			PHLDB2	-	NULL	ENSG00000144824		0.413	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	220	0.00	0	C	NM_145753		111681100	111681100	+1	no_errors	ENST00000393925	ensembl	human	known	69_37n	silent	168	29.11	69	SNP	0.249	T
PHPT1	29085	genome.wustl.edu	37	9	139744796	139744796	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139744796G>A	ENST00000247665.10	+	2	622				MAMDC4_ENST00000445819.1_5'Flank|PHPT1_ENST00000492540.1_3'UTR|PHPT1_ENST00000371661.1_Intron|PHPT1_ENST00000545326.1_Intron|MAMDC4_ENST00000317446.2_5'Flank	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGGTGGGACGGACACCCCCAG	0.682																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.285+207G>A	9.37:g.139744796G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMX0|B1AMX1|Q9H0Y3	RNA	SNP	-	NULL	ENST00000247665.10	37	NULL	CCDS7009.1	9																																																																																			PHPT1	-	-	ENSG00000054148		0.682	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	HGNC	protein_coding	OTTHUMT00000055150.1	29	0.00	0	G	NM_014172		139744796	139744796	+1	no_errors	ENST00000492540	ensembl	human	known	69_37n	rna	13	35.00	7	SNP	0.000	A
PHTF1	10745	genome.wustl.edu	37	1	114243489	114243489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:114243489delA	ENST00000369604.1	-	16	2456	c.1973delT	c.(1972-1974)ttafs	p.L659fs	PHTF1_ENST00000369596.2_Frame_Shift_Del_p.L606fs|PHTF1_ENST00000369598.1_Frame_Shift_Del_p.L614fs|PHTF1_ENST00000369600.1_Frame_Shift_Del_p.L606fs|PHTF1_ENST00000393357.2_Frame_Shift_Del_p.L659fs|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	659					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACGCAATAAAAAAAGTAG	0.368																																						dbGAP											0													91.0	93.0	93.0					1																	114243489		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1973delT	1.37:g.114243489delA	ENSP00000358617:p.Leu659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Frame_Shift_Del	DEL	pfam_TF_homeodomain_male	p.L658fs	ENST00000369604.1	37	c.1973	CCDS861.1	1																																																																																			PHTF1	-	NULL	ENSG00000116793		0.368	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	298	0.33	1	A	NM_006608		114243489	114243489	-1	no_errors	ENST00000369604	ensembl	human	known	69_37n	frame_shift_del	199	37.07	119	DEL	1.000	-
PHYH	5264	genome.wustl.edu	37	10	13336579	13336580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:13336579_13336580insT	ENST00000263038.4	-	4	320_321	c.262_263insA	c.(262-264)atcfs	p.I88fs	PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000396920.3_Frame_Shift_Ins_p.I69fs	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	88					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CTTTCTGCAGATTTTTTCAAAC	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.263dupA	10.37:g.13336585_13336585dupT	ENSP00000263038:p.Ile88fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTS8|B1ALH5	Frame_Shift_Ins	INS	pfam_Phytyl_CoA_dOase	p.I88fs	ENST00000263038.4	37	c.263_262	CCDS7097.1	10																																																																																			PHYH	-	pfam_Phytyl_CoA_dOase	ENSG00000107537		0.436	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	317	0.00	0	-			13336579	13336580	-1	no_errors	ENST00000263038	ensembl	human	known	69_37n	frame_shift_ins	203	31.19	92	INS	1.000:0.556	T
PI4K2A	55361	genome.wustl.edu	37	10	99426328	99426328	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:99426328G>A	ENST00000370631.3	+	7	1275	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	PI4K2A_ENST00000370649.3_Splice_Site_p.K376K|PI4K2A_ENST00000555577.1_Splice_Site_p.K376K	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	406	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AACTCTTCAAGGTTAGCCCTG	0.413																																						dbGAP											0													54.0	53.0	53.0					10																	99426328		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.1218+1G>A	10.37:g.99426328G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DR59|Q9NSG8	Silent	SNP	pfam_PI3/4_kinase_cat_dom	p.K406	ENST00000370631.3	37	c.1218	CCDS7469.1	10																																																																																			PI4K2A	-	pfam_PI3/4_kinase_cat_dom	ENSG00000155252		0.413	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2A	HGNC	protein_coding	OTTHUMT00000049735.1	131	0.00	0	G	NM_018425	Silent	99426328	99426328	+1	no_errors	ENST00000370631	ensembl	human	known	69_37n	silent	66	44.17	53	SNP	1.000	A
PI4KAP1	728233	genome.wustl.edu	37	22	20386703	20386703	+	RNA	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:20386703A>C	ENST00000430523.3	-	0	1809					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												GCTGCCTGTGACTGGGTAGGA	0.577																																						dbGAP											0																																										-	-	-			0					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20386703A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000430523.3	37	NULL		22																																																																																			PI4KAP1	-	-	ENSG00000215513		0.577	PI4KAP1-005	KNOWN	basic	processed_transcript	PI4KAP1	HGNC	pseudogene	OTTHUMT00000319534.5	50	0.00	0	A			20386703	20386703	-1	no_errors	ENST00000430523	ensembl	human	known	69_37n	rna	24	52.00	26	SNP	0.002	C
PI4KB	5298	genome.wustl.edu	37	1	151280086	151280086	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:151280086G>T	ENST00000368873.1	-	4	1314	c.1146C>A	c.(1144-1146)ccC>ccA	p.P382P	PI4KB_ENST00000368874.4_Silent_p.P367P|PI4KB_ENST00000368872.1_Silent_p.P367P|PI4KB_ENST00000529142.1_Silent_p.P50P|PI4KB_ENST00000271657.5_Silent_p.P394P|PI4KB_ENST00000368875.2_Silent_p.P394P			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	382					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGTGTGTGGGGTACACGGA	0.577																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											0													83.0	70.0	74.0					1																	151280086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1146C>A	1.37:g.151280086G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P394	ENST00000368873.1	37	c.1182		1																																																																																			PI4KB	-	superfamily_Kinase-like_dom	ENSG00000143393		0.577	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	222	0.45	1	G	NM_002651		151280086	151280086	-1	no_errors	ENST00000271657	ensembl	human	known	69_37n	silent	347	20.59	90	SNP	1.000	T
PIAS2	9063	genome.wustl.edu	37	18	44424815	44424815	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:44424815delA	ENST00000585916.1	-	7	861				PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2						androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACAAACAAACAAAAAAAACCT	0.284																																						dbGAP											0													49.0	52.0	51.0					18																	44424815		2196	4296	6492	-	-	-	SO:0001627	intron_variant	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.862-13T>-	18.37:g.44424815delA		Somatic		WXS	Illumina GAIIx	Phase_IV	O75927|Q96BT5|Q96KE3	RNA	DEL	-	NULL	ENST00000585916.1	37	NULL	CCDS32824.1	18																																																																																			PIAS2	-	-	ENSG00000078043		0.284	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	155	0.00	0	A	NM_004671		44424815	44424815	-1	no_errors	ENST00000591865	ensembl	human	known	69_37n	rna	102	33.12	53	DEL	0.945	-
PIEZO1	9780	genome.wustl.edu	37	16	88789042	88789042	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:88789042G>A	ENST00000301015.9	-	35	4970	c.4724C>T	c.(4723-4725)gCc>gTc	p.A1575V	RP5-1142A6.9_ENST00000564984.1_RNA|PIEZO1_ENST00000327397.7_5'Flank	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1575					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TGGCAGCGTGGCCTCGGCCTG	0.706																																						dbGAP											0													22.0	31.0	28.0					16																	88789042		691	1585	2276	-	-	-	SO:0001583	missense	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4724C>T	16.37:g.88789042G>A	ENSP00000301015:p.Ala1575Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.A1575V	ENST00000301015.9	37	c.4724	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805467	0.31961	.	.	ENSG00000103335	ENST00000301015	T	0.72282	-0.64	4.15	-0.72	0.11195	.	1.535050	0.03712	N	0.250459	T	0.58192	0.2105	L	0.43152	1.355	0.09310	N	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.20672	-1.0268	10	0.29301	T	0.29	-0.987	1.8533	0.03173	0.1644:0.1317:0.4347:0.2693	.	1575	Q92508	PIEZ1_HUMAN	V	1575	ENSP00000301015:A1575V	ENSP00000301015:A1575V	A	-	2	0	FAM38A	87316543	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.681000	0.05191	-0.160000	0.11002	0.561000	0.74099	GCC	PIEZO1	-	NULL	ENSG00000103335		0.706	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	42	0.00	0	G	NM_014745		88789042	88789042	-1	no_errors	ENST00000301015	ensembl	human	novel	69_37n	missense	25	30.56	11	SNP	0.001	A
PIEZO1	9780	genome.wustl.edu	37	16	88799995	88799997	+	Splice_Site	DEL	CCT	CCT	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CCT	CCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:88799995_88799997delCCT	ENST00000301015.9	-	18	2732_2734	c.2486_2488delAGG	c.(2485-2490)gaggtg>gtg	p.E829del	RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	829					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GCCACACTCACCTCCTTCAGGGC	0.67																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.2487+1AGG>-	16.37:g.88799998_88800000delCCT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Splice_Site	DEL	-	e19-1	ENST00000301015.9	37	c.2487+3_2487+1	CCDS54058.1	16																																																																																			PIEZO1	-	-	ENSG00000103335		0.670	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	12	0.00	0	CCT	NM_014745	In_Frame_Del	88799995	88799997	-1	no_errors	ENST00000301015	ensembl	human	novel	69_37n	splice_site_del	5	44.44	4	DEL	1.000:1.000:1.000	-
PIEZO2	63895	genome.wustl.edu	37	18	10671635	10671636	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:10671635_10671636insA	ENST00000503781.3	-	52	8146_8147	c.8147_8148insT	c.(8146-8148)ttafs	p.L2716fs	PIEZO2_ENST00000302079.6_Frame_Shift_Ins_p.L2653fs|PIEZO2_ENST00000538948.1_Frame_Shift_Ins_p.L673fs|PIEZO2_ENST00000285141.4_Frame_Shift_Ins_p.L508fs|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000580640.1_Frame_Shift_Ins_p.L2741fs	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2716					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TCTCTCGAACTAAAAAAATATC	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8148dupT	18.37:g.10671642_10671642dupA	ENSP00000421377:p.Leu2716fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Frame_Shift_Ins	INS	pfam_DUF3595	p.L673fs	ENST00000503781.3	37	c.2019_2018		18																																																																																			PIEZO2	-	pfam_DUF3595	ENSG00000154864		0.376	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	283	0.00	0	-	NM_022068		10671635	10671636	-1	no_errors	ENST00000538948	ensembl	human	known	69_37n	frame_shift_ins	209	29.15	86	INS	1.000:1.000	A
PIGT	51604	genome.wustl.edu	37	20	44050025	44050025	+	Missense_Mutation	SNP	G	G	C	rs569625672		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:44050025G>C	ENST00000279036.6	+	9	1116	c.1036G>C	c.(1036-1038)Gcc>Ccc	p.A346P	PIGT_ENST00000535404.1_Missense_Mutation_p.A191P|PIGT_ENST00000279035.9_Missense_Mutation_p.A244P|PIGT_ENST00000543458.2_Missense_Mutation_p.A290P|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000545755.1_Missense_Mutation_p.A84P|PIGT_ENST00000341555.5_Missense_Mutation_p.A152P	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18462	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													30.0	31.0	31.0					20																	44050025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1036G>C	20.37:g.44050025G>C	ENSP00000279036:p.Ala346Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_Gpi16	p.A346P	ENST00000279036.6	37	c.1036	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009341	0.35415	.	.	ENSG00000124155	ENST00000543458;ENST00000279035;ENST00000279036;ENST00000455050;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.08	4.13	0.48395	.	0.286864	0.35466	N	0.003184	T	0.16769	0.0403	N	0.02539	-0.55	0.29568	N	0.850091	B;B;B;B;B;P;B;B	0.42692	0.005;0.005;0.019;0.355;0.0;0.787;0.001;0.0	B;B;B;B;B;B;B;B	0.37833	0.004;0.006;0.004;0.152;0.004;0.259;0.004;0.003	T	0.04885	-1.0920	10	0.23302	T	0.38	-23.0954	10.3508	0.43934	0.0:0.1463:0.7017:0.152	.	184;244;191;290;84;152;84;346	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7ZAP3;Q969N2-2;B7Z1N3;Q969N2	.;.;.;.;.;.;.;PIGT_HUMAN	P	290;244;346;244;84;152;191	ENSP00000441577:A290P;ENSP00000279035:A244P;ENSP00000279036:A346P;ENSP00000443963:A84P;ENSP00000343783:A152P;ENSP00000440528:A191P	ENSP00000279035:A244P	A	+	1	0	PIGT	43483439	0.994000	0.37717	1.000000	0.80357	0.724000	0.41520	0.919000	0.28692	1.497000	0.48584	-0.152000	0.13540	GCC	PIGT	-	pfam_Gpi16	ENSG00000124155		0.572	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	48	0.00	0	G	NM_015937		44050025	44050025	+1	no_errors	ENST00000279036	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	0.980	C
PIK3CG	5294	genome.wustl.edu	37	7	106509620	106509620	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:106509620G>A	ENST00000359195.3	+	2	1924	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	PIK3CG_ENST00000496166.1_Silent_p.P538P|PIK3CG_ENST00000440650.2_Silent_p.P538P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	538					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCCCTGACCCGGAAGGGGACC	0.542																																						dbGAP											0													90.0	89.0	90.0					7																	106509620		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1614G>A	7.37:g.106509620G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P538	ENST00000359195.3	37	c.1614	CCDS5739.1	7																																																																																			PIK3CG	-	superfamily_ARM-type_fold	ENSG00000105851		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	242	0.82	2	G			106509620	106509620	+1	no_errors	ENST00000359195	ensembl	human	known	69_37n	silent	171	38.49	107	SNP	0.001	A
PIK3R6	146850	genome.wustl.edu	37	17	8736214	8736214	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:8736214C>T	ENST00000311434.9	-	9	1033	c.794G>A	c.(793-795)cGc>cAc	p.R265H	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	265					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										ACCACCGCAGCGCCCCGCCGC	0.701																																						dbGAP											0													27.0	33.0	31.0					17																	8736214		1874	4082	5956	-	-	-	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.794G>A	17.37:g.8736214C>T	ENSP00000475670:p.Arg265His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658R3	RNA	SNP	-	NULL	ENST00000311434.9	37	NULL		17																																																																																			PIK3R6	-	-	ENSG00000174083		0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		15	0.00	0	C	NM_001010855		8736214	8736214	-1	no_errors	ENST00000311434	ensembl	human	known	69_37n	rna	8	38.46	5	SNP	0.004	T
PIWIL2	55124	genome.wustl.edu	37	8	22137059	22137059	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:22137059C>T	ENST00000454009.2	+	2	669	c.160C>T	c.(160-162)Cca>Tca	p.P54S	PIWIL2_ENST00000356766.6_Missense_Mutation_p.P54S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.P54S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	54					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATTTGGAAAGCCAGAGGAACC	0.572																																						dbGAP											0													88.0	90.0	89.0					8																	22137059		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.160C>T	8.37:g.22137059C>T	ENSP00000406956:p.Pro54Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.P54S	ENST00000454009.2	37	c.160	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	C	8.326	0.825297	0.16749	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.04194	3.69;3.68;3.69	5.41	3.59	0.41128	.	0.262833	0.30930	N	0.008587	T	0.03011	0.0089	N	0.19112	0.55	0.22292	N	0.999225	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.45920	-0.9228	10	0.11794	T	0.64	-18.3905	8.4484	0.32856	0.0:0.8202:0.0:0.1798	.	54;54	E7ECA4;Q8TC59	.;PIWL2_HUMAN	S	54	ENSP00000349208:P54S;ENSP00000428267:P54S;ENSP00000406956:P54S	ENSP00000349208:P54S	P	+	1	0	PIWIL2	22193004	0.985000	0.35326	0.738000	0.30950	0.488000	0.33401	1.021000	0.30040	1.521000	0.48983	-0.136000	0.14681	CCA	PIWIL2	-	NULL	ENSG00000197181		0.572	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	142	0.00	0	C			22137059	22137059	+1	no_errors	ENST00000356766	ensembl	human	known	69_37n	missense	142	28.71	58	SNP	0.383	T
PKDREJ	10343	genome.wustl.edu	37	22	46654179	46654179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:46654179G>A	ENST00000253255.5	-	1	5040	c.5041C>T	c.(5041-5043)Cga>Tga	p.R1681*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1681					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTCGTGCCTCGGATTCGGACG	0.418																																						dbGAP											0													207.0	170.0	182.0					22																	46654179		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5041C>T	22.37:g.46654179G>A	ENSP00000253255:p.Arg1681*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJY3|O95850	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.R1681*	ENST00000253255.5	37	c.5041	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	g	43	9.960970	0.99305	.	.	ENSG00000130943	ENST00000253255	.	.	.	4.95	2.79	0.32731	.	0.284419	0.24417	N	0.038719	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0547	7.6742	0.28476	0.0806:0.0:0.6151:0.3043	.	.	.	.	X	1681	.	ENSP00000253255:R1681X	R	-	1	2	PKDREJ	45032843	0.004000	0.15560	0.001000	0.08648	0.330000	0.28571	1.003000	0.29809	0.585000	0.29608	0.298000	0.19748	CGA	PKDREJ	-	NULL	ENSG00000130943		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	522	0.00	0	G	NM_006071		46654179	46654179	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	nonsense	323	40.95	224	SNP	0.004	A
PKHD1	5314	genome.wustl.edu	37	6	51889528	51889528	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:51889528C>T	ENST00000371117.3	-	32	5355	c.5080G>A	c.(5080-5082)Ggt>Agt	p.G1694S	PKHD1_ENST00000340994.4_Missense_Mutation_p.G1694S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1694	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGAGACACCCACACAGGGT	0.527																																						dbGAP											0													79.0	74.0	76.0					6																	51889528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5080G>A	6.37:g.51889528C>T	ENSP00000360158:p.Gly1694Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.G1694S	ENST00000371117.3	37	c.5080	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932369	0.34096	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86956	-1.99;-2.19	5.55	2.84	0.33178	.	0.576740	0.19499	N	0.112790	T	0.76744	0.4030	L	0.59436	1.845	0.09310	N	1	B;P	0.46020	0.426;0.871	P;P	0.44860	0.462;0.457	T	0.68198	-0.5472	10	0.49607	T	0.09	.	8.8128	0.34978	0.0:0.632:0.0:0.368	.	1694;1694	P08F94-2;P08F94	.;PKHD1_HUMAN	S	1694	ENSP00000360158:G1694S;ENSP00000341097:G1694S	ENSP00000341097:G1694S	G	-	1	0	PKHD1	51997487	0.005000	0.15991	0.252000	0.24328	0.129000	0.20672	0.844000	0.27654	0.317000	0.23160	-0.145000	0.13849	GGT	PKHD1	-	superfamily_Ig_E-set	ENSG00000170927		0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	76	0.00	0	C	NM_138694		51889528	51889528	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	62	31.87	29	SNP	0.002	T
PLA2G3	50487	genome.wustl.edu	37	22	31536080	31536080	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:31536080A>G	ENST00000215885.3	-	1	513	c.261T>C	c.(259-261)tgT>tgC	p.C87C		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	87					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCATGAGCACAGAGAGCAC	0.642																																						dbGAP											0													46.0	50.0	49.0					22																	31536080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.261T>C	22.37:g.31536080A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95768	Silent	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2	p.C87	ENST00000215885.3	37	c.261	CCDS13889.1	22																																																																																			PLA2G3	-	NULL	ENSG00000100078		0.642	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G3	HGNC	protein_coding	OTTHUMT00000321938.1	41	0.00	0	A	NM_015715		31536080	31536080	-1	no_errors	ENST00000215885	ensembl	human	known	69_37n	silent	28	28.21	11	SNP	0.801	G
PLCB4	5332	genome.wustl.edu	37	20	9318694	9318694	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:9318694C>T	ENST00000378493.1	+	3	220	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	PLCB4_ENST00000378473.3_Missense_Mutation_p.R69W|PLCB4_ENST00000278655.4_Missense_Mutation_p.R69W|PLCB4_ENST00000378501.2_Missense_Mutation_p.R69W|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.R69W|PLCB4_ENST00000334005.3_Missense_Mutation_p.R69W			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	69					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAACAGTATTCGGTCGGGAGC	0.413																																						dbGAP											0													132.0	101.0	111.0					20																	9318694		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.205C>T	20.37:g.9318694C>T	ENSP00000367754:p.Arg69Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R69W	ENST00000378493.1	37	c.205	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.444444	0.96187	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000278655;ENST00000378493;ENST00000378501	T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.78	5.78	0.91487	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.982;1.0	D	0.84478	0.0603	10	0.87932	D	0	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	69;69;69	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	W	69	ENSP00000385805:R69W;ENSP00000412982:R69W;ENSP00000334105:R69W;ENSP00000367734:R69W;ENSP00000391614:R69W;ENSP00000278655:R69W;ENSP00000367754:R69W;ENSP00000367762:R69W	ENSP00000278655:R69W	R	+	1	2	PLCB4	9266694	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.024000	0.76443	2.749000	0.94314	0.655000	0.94253	CGG	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	239	0.00	0	C			9318694	9318694	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	missense	153	42.91	118	SNP	1.000	T
PLCB4	5332	genome.wustl.edu	37	20	9382159	9382159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:9382159delC	ENST00000378493.1	+	17	1548	c.1533delC	c.(1531-1533)cacfs	p.H511fs	PLCB4_ENST00000378473.3_Frame_Shift_Del_p.H511fs|PLCB4_ENST00000278655.4_Frame_Shift_Del_p.H511fs|PLCB4_ENST00000378501.2_Frame_Shift_Del_p.H511fs|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Frame_Shift_Del_p.H511fs|PLCB4_ENST00000334005.3_Frame_Shift_Del_p.H511fs			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	511					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H511Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGAAGCTCACCCCGAATTCA	0.448																																						dbGAP											1	Substitution - Missense(1)	lung(1)											66.0	60.0	62.0					20																	9382159		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1533delC	20.37:g.9382159delC	ENSP00000367754:p.His511fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Frame_Shift_Del	DEL	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E513fs	ENST00000378493.1	37	c.1533	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000101333		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	201	0.00	0	C			9382159	9382159	+1	no_errors	ENST00000334005	ensembl	human	known	69_37n	frame_shift_del	156	36.69	91	DEL	1.000	-
PLEC	5339	genome.wustl.edu	37	8	145009185	145009185	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:145009185C>A	ENST00000322810.4	-	8	1399	c.1230G>T	c.(1228-1230)agG>agT	p.R410S	PLEC_ENST00000354589.3_Missense_Mutation_p.R273S|PLEC_ENST00000356346.3_Missense_Mutation_p.R259S|PLEC_ENST00000345136.3_Missense_Mutation_p.R273S|PLEC_ENST00000357649.2_Missense_Mutation_p.R277S|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000398774.2_Missense_Mutation_p.R241S|PLEC_ENST00000354958.2_Missense_Mutation_p.R251S|PLEC_ENST00000436759.2_Missense_Mutation_p.R300S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	410	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCACGTTGGCCCTCACCCCAT	0.701																																						dbGAP											0													55.0	63.0	61.0					8																	145009185		2057	4179	6236	-	-	-	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1230G>T	8.37:g.145009185C>A	ENSP00000323856:p.Arg410Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.R410S	ENST00000322810.4	37	c.1230	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	c	14.96	2.692766	0.48202	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000528025	T;T;T;T;T;T;T;T;D	0.91068	-1.22;-1.22;-1.25;-1.25;-1.23;-1.22;-1.22;-1.23;-2.78	4.59	4.59	0.56863	.	0.323928	0.25436	U	0.030700	T	0.79287	0.4420	N	0.05280	-0.08	0.80722	D	1	B;B;B;B;B;B;B;B	0.11235	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	B;B;B;B;B;B;B;B	0.10450	0.005;0.005;0.005;0.002;0.005;0.005;0.005;0.005	T	0.74061	-0.3786	10	0.08599	T	0.76	.	16.3236	0.82964	0.0:1.0:0.0:0.0	.	300;259;251;410;241;273;277;273	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	273;277;273;241;410;251;259;300;317	ENSP00000344848:R273S;ENSP00000350277:R277S;ENSP00000346602:R273S;ENSP00000381756:R241S;ENSP00000323856:R410S;ENSP00000347044:R251S;ENSP00000348702:R259S;ENSP00000388180:R300S;ENSP00000437303:R317S	ENSP00000323856:R410S	R	-	3	2	PLEC	145081173	0.023000	0.18921	1.000000	0.80357	0.969000	0.65631	-0.178000	0.09782	2.401000	0.81631	0.651000	0.88453	AGG	PLEC	-	NULL	ENSG00000178209		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	55	0.00	0	C	NM_000445		145009185	145009185	-1	no_errors	ENST00000322810	ensembl	human	known	69_37n	missense	40	41.18	28	SNP	1.000	A
PLEKHA6	22874	genome.wustl.edu	37	1	204210854	204210854	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:204210854C>A	ENST00000272203.3	-	16	2577	c.2261G>T	c.(2260-2262)aGg>aTg	p.R754M	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R774M	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	754										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TACCTCTTGCCTGGTGGGCAC	0.552																																						dbGAP											0													134.0	124.0	127.0					1																	204210854		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2261G>T	1.37:g.204210854C>A	ENSP00000272203:p.Arg754Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R754M	ENST00000272203.3	37	c.2261	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370194	0.61624	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10573	2.86;3.33	5.8	4.89	0.63831	.	1.061280	0.07241	N	0.864309	T	0.25158	0.0611	L	0.36672	1.1	0.32270	N	0.568943	D	0.67145	0.996	D	0.64877	0.93	T	0.08973	-1.0696	10	0.66056	D	0.02	-18.5729	12.84	0.57797	0.0:0.9238:0.0:0.0762	.	754	Q9Y2H5	PKHA6_HUMAN	M	754;774	ENSP00000272203:R754M;ENSP00000402046:R774M	ENSP00000272203:R754M	R	-	2	0	PLEKHA6	202477477	1.000000	0.71417	0.956000	0.39512	0.625000	0.37756	1.825000	0.39081	1.469000	0.48083	0.650000	0.86243	AGG	PLEKHA6	-	NULL	ENSG00000143850		0.552	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	552	0.00	0	C	NM_014935		204210854	204210854	-1	no_errors	ENST00000272203	ensembl	human	known	69_37n	missense	996	18.76	230	SNP	0.999	A
PLEKHA8	84725	genome.wustl.edu	37	7	30092435	30092435	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:30092435T>C	ENST00000449726.1	+	7	1099	c.749T>C	c.(748-750)aTa>aCa	p.I250T	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.I250T|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.I250T|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.I250T	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	250					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCTGCAGAGATAGACTGCAGC	0.284																																						dbGAP											0													33.0	32.0	32.0					7																	30092435		2178	4290	6468	-	-	-	SO:0001583	missense	0			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.749T>C	7.37:g.30092435T>C	ENSP00000397947:p.Ile250Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I250T	ENST00000449726.1	37	c.749	CCDS56473.1	7	.	.	.	.	.	.	.	.	.	.	T	5.938	0.357148	0.11239	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.95	-1.09	0.09904	.	1.069660	0.07084	N	0.837606	T	0.14013	0.0339	N	0.08118	0	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.27191	-1.0081	9	0.14252	T	0.57	-21.9894	1.0782	0.01637	0.1481:0.1791:0.2501:0.4227	.	250;250;250;250	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	T	250;250;250;250;276	.	ENSP00000258679:I250T	I	+	2	0	PLEKHA8	30058960	0.001000	0.12720	0.997000	0.53966	0.953000	0.61014	-0.452000	0.06787	0.185000	0.20105	0.533000	0.62120	ATA	PLEKHA8	-	NULL	ENSG00000106086		0.284	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA8	HGNC	protein_coding		119	0.00	0	T	NM_032639		30092435	30092435	+1	no_errors	ENST00000449726	ensembl	human	known	69_37n	missense	85	39.29	55	SNP	0.115	C
PLEKHG1	57480	genome.wustl.edu	37	6	151161115	151161115	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:151161115G>A	ENST00000358517.2	+	16	3452	c.3241G>A	c.(3241-3243)Gga>Aga	p.G1081R	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.G1081R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1081							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCATGGTAGTGGAGACTGGCT	0.502																																						dbGAP											0													58.0	59.0	59.0					6																	151161115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3241G>A	6.37:g.151161115G>A	ENSP00000351318:p.Gly1081Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1081R	ENST00000358517.2	37	c.3241	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345035	0.24426	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.57752	0.38;0.38	5.81	3.04	0.35103	.	0.235838	0.49916	D	0.000133	T	0.14013	0.0339	N	0.08118	0	0.20307	N	0.999912	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21690	-1.0238	10	0.87932	D	0	.	10.0396	0.42151	0.0689:0.2587:0.6723:0.0	.	888;1081	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	R	1081	ENSP00000356297:G1081R;ENSP00000351318:G1081R	ENSP00000351318:G1081R	G	+	1	0	PLEKHG1	151202808	1.000000	0.71417	0.062000	0.19696	0.181000	0.23173	4.827000	0.62723	0.358000	0.24211	0.655000	0.94253	GGA	PLEKHG1	-	NULL	ENSG00000120278		0.502	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	134	0.00	0	G			151161115	151161115	+1	no_errors	ENST00000358517	ensembl	human	known	69_37n	missense	40	72.97	108	SNP	0.970	A
PLEKHG4B	153478	genome.wustl.edu	37	5	169664	169664	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:169664G>A	ENST00000283426.6	+	12	2668	c.2618G>A	c.(2617-2619)tGc>tAc	p.C873Y		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	873	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGGAGCGCTGCCAGCACTGC	0.637																																						dbGAP											0													65.0	67.0	66.0					5																	169664		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2618G>A	5.37:g.169664G>A	ENSP00000283426:p.Cys873Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C873Y	ENST00000283426.6	37	c.2618	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024113	0.54683	.	.	ENSG00000153404	ENST00000283426	T	0.63255	-0.03	3.38	3.38	0.38709	Dbl homology (DH) domain (5);	.	.	.	.	T	0.72985	0.3529	M	0.62209	1.925	0.40724	D	0.982688	D	0.89917	1.0	D	0.85130	0.997	T	0.71027	-0.4711	9	0.25106	T	0.35	.	12.2521	0.54603	0.0:0.0:1.0:0.0	.	873	Q96PX9	PKH4B_HUMAN	Y	873	ENSP00000283426:C873Y	ENSP00000283426:C873Y	C	+	2	0	PLEKHG4B	222664	1.000000	0.71417	0.953000	0.39169	0.797000	0.45037	5.074000	0.64401	1.426000	0.47256	0.467000	0.42956	TGC	PLEKHG4B	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000153404		0.637	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	84	0.00	0	G	NM_052909		169664	169664	+1	no_errors	ENST00000283426	ensembl	human	known	69_37n	missense	76	10.59	9	SNP	0.999	A
PLEKHM1P	440456	genome.wustl.edu	37	17	62796329	62796329	+	RNA	SNP	G	G	A	rs201436458	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:62796329G>A	ENST00000582986.1	-	0	1591					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CGGCTTCCTCGGCGTTTCCGG	0.622																																						dbGAP											0																																										-	-	-			0					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796329G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-	ENSG00000214176		0.622	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	55	0.00	0	G	NR_024386		62796329	62796329	-1	no_errors	ENST00000578036	ensembl	human	known	69_37n	rna	105	14.52	18	SNP	0.026	A
PLP2	5355	genome.wustl.edu	37	X	49029797	49029797	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:49029797T>C	ENST00000376327.5	+	3	387	c.312T>C	c.(310-312)gtT>gtC	p.V104V	PLP2_ENST00000376322.3_Silent_p.V104V	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	104	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TTGTCCTTGTTGAGAGAGGAA	0.532																																						dbGAP											0													122.0	96.0	105.0					X																	49029797		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.312T>C	X.37:g.49029797T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT7|Q32MM8	Silent	SNP	pfam_MARVEL-like_dom	p.V104	ENST00000376327.5	37	c.312	CCDS14319.1	X																																																																																			PLP2	-	pfam_MARVEL-like_dom	ENSG00000102007		0.532	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP2	HGNC	protein_coding	OTTHUMT00000056540.1	377	0.00	0	T	NM_002668		49029797	49029797	+1	no_errors	ENST00000376327	ensembl	human	known	69_37n	silent	226	37.91	138	SNP	0.426	C
PLS1	5357	genome.wustl.edu	37	3	142430808	142430808	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:142430808T>C	ENST00000337777.3	+	16	2062	c.1849T>C	c.(1849-1851)Ttt>Ctt	p.F617L	PLS1_ENST00000497002.1_Missense_Mutation_p.F617L|PLS1_ENST00000457734.2_Missense_Mutation_p.F617L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	617	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TATGACGGTGTTTGCATGCTT	0.383																																						dbGAP											0													144.0	138.0	140.0					3																	142430808		2203	4300	6503	-	-	-	SO:0001583	missense	0			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.1849T>C	3.37:g.142430808T>C	ENSP00000336831:p.Phe617Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.F617L	ENST00000337777.3	37	c.1849	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926569	0.92319	.	.	ENSG00000120756	ENST00000457734;ENST00000337777;ENST00000497002	D;D;D	0.94650	-3.48;-3.48;-3.48	5.69	5.69	0.88448	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97074	0.9044	M	0.78285	2.405	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	D	0.97697	1.0182	10	0.87932	D	0	-23.6662	15.9507	0.79835	0.0:0.0:0.0:1.0	.	617	Q14651	PLSI_HUMAN	L	617	ENSP00000387890:F617L;ENSP00000336831:F617L;ENSP00000418700:F617L	ENSP00000336831:F617L	F	+	1	0	PLS1	143913498	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.178000	0.69098	0.454000	0.30748	TTT	PLS1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000120756		0.383	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	226	0.00	0	T	NM_002670		142430808	142430808	+1	no_errors	ENST00000337777	ensembl	human	known	69_37n	missense	148	38.33	92	SNP	1.000	C
PLS3	5358	genome.wustl.edu	37	X	114871268	114871268	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:114871268A>G	ENST00000420625.2	+	8	1003	c.869A>G	c.(868-870)aAc>aGc	p.N290S	PLS3_ENST00000539310.1_Missense_Mutation_p.N245S|PLS3_ENST00000355899.3_Missense_Mutation_p.N290S|PLS3_ENST00000537301.1_Missense_Mutation_p.N268S|PLS3_ENST00000289290.3_Missense_Mutation_p.N245S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	290	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CAAAAAATTAACAACTTTAGT	0.393																																					Colon(160;1047 1864 8490 12969 29601)	dbGAP											0													117.0	118.0	117.0					X																	114871268		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.869A>G	X.37:g.114871268A>G	ENSP00000398945:p.Asn290Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2	p.N290S	ENST00000420625.2	37	c.869	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	A	8.266	0.812255	0.16537	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	5.5	4.26	0.50523	Calponin homology domain (5);	0.296824	0.40302	N	0.001124	D	0.85234	0.5650	N	0.16066	0.365	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.78016	-0.2369	10	0.06099	T	0.92	-5.6135	9.5585	0.39355	0.6876:0.3124:0.0:0.0	.	263;268;290	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	S	290;268;245;290;245	ENSP00000348163:N290S;ENSP00000445105:N268S;ENSP00000289290:N245S;ENSP00000398945:N290S;ENSP00000445339:N245S	ENSP00000289290:N245S	N	+	2	0	PLS3	114777524	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.155000	0.42301	1.826000	0.53198	0.437000	0.28790	AAC	PLS3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000102024		0.393	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	230	0.00	0	A			114871268	114871268	+1	no_errors	ENST00000355899	ensembl	human	known	69_37n	missense	168	41.05	117	SNP	1.000	G
PLXNA3	55558	genome.wustl.edu	37	X	153688844	153688844	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153688844C>T	ENST00000369682.3	+	2	496	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	107	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGCGGCCCGCCGCCTGGTGG	0.667																																						dbGAP											0													20.0	21.0	21.0					X																	153688844		2198	4283	6481	-	-	-	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.321C>T	X.37:g.153688844C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R107	ENST00000369682.3	37	c.321	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000130827		0.667	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	27	0.00	0	C	NM_017514		153688844	153688844	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	silent	14	41.67	10	SNP	0.999	T
PLXNA3	55558	genome.wustl.edu	37	X	153691977	153691977	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153691977C>T	ENST00000369682.3	+	6	1666	c.1491C>T	c.(1489-1491)tgC>tgT	p.C497C		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	497					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGAGCTGCGCAGCCTGCC	0.716																																						dbGAP											0													11.0	13.0	12.0					X																	153691977		2177	4256	6433	-	-	-	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1491C>T	X.37:g.153691977C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.C497	ENST00000369682.3	37	c.1491	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000130827		0.716	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	14	0.00	0	C	NM_017514		153691977	153691977	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	0.020	T
PLXNA3	55558	genome.wustl.edu	37	X	153699600	153699600	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153699600C>T	ENST00000369682.3	+	31	5484	c.5309C>T	c.(5308-5310)tCg>tTg	p.S1770L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1770					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGAAGGACTCGCCCTCCAAC	0.612																																						dbGAP											0													174.0	151.0	159.0					X																	153699600		2203	4300	6503	-	-	-	SO:0001583	missense	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5309C>T	X.37:g.153699600C>T	ENSP00000358696:p.Ser1770Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S1770L	ENST00000369682.3	37	c.5309	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590251	0.86851	.	.	ENSG00000130827	ENST00000369682	T	0.19532	2.14	5.12	5.12	0.69794	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71381	-0.4610	10	0.87932	D	0	.	16.4046	0.83654	0.0:1.0:0.0:0.0	.	1770	P51805	PLXA3_HUMAN	L	1770	ENSP00000358696:S1770L	ENSP00000358696:S1770L	S	+	2	0	PLXNA3	153352794	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	7.811000	0.86092	2.127000	0.65507	0.436000	0.28706	TCG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000130827		0.612	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	286	0.00	0	C	NM_017514		153699600	153699600	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	missense	170	33.59	86	SNP	1.000	T
PLXNB2	23654	genome.wustl.edu	37	22	50716373	50716373	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:50716373C>T	ENST00000449103.1	-	32	5097	c.4957G>A	c.(4957-4959)Gca>Aca	p.A1653T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1653T			O15031	PLXB2_HUMAN	plexin B2	1653					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TACTTGACTGCAGGTGGCACC	0.597																																						dbGAP											0													53.0	63.0	60.0					22																	50716373		2177	4283	6460	-	-	-	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4957G>A	22.37:g.50716373C>T	ENSP00000409171:p.Ala1653Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A1653T	ENST00000449103.1	37	c.4957	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676477	0.67928	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964;ENST00000411680	T;T;T	0.16597	2.36;2.36;2.33	4.08	4.08	0.47627	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.64402	D	0.000002	T	0.43722	0.1260	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46498	-0.9187	10	0.51188	T	0.08	.	16.8139	0.85728	0.0:1.0:0.0:0.0	.	1653	O15031	PLXB2_HUMAN	T	1653;1653;283;205	ENSP00000409171:A1653T;ENSP00000352288:A1653T;ENSP00000400679:A205T	ENSP00000352288:A1653T	A	-	1	0	PLXNB2	49058500	1.000000	0.71417	0.045000	0.18777	0.091000	0.18340	7.317000	0.79018	2.254000	0.74563	0.491000	0.48974	GCA	PLXNB2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000196576		0.597	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	55	0.00	0	C	NM_012401		50716373	50716373	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	0.998	T
PLXNB2	23654	genome.wustl.edu	37	22	50728157	50728157	+	Missense_Mutation	SNP	G	G	A	rs554117465		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:50728157G>A	ENST00000449103.1	-	3	997	c.857C>T	c.(856-858)gCg>gTg	p.A286V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A286V			O15031	PLXB2_HUMAN	plexin B2	286	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGAGCCAGGCGCAGCCACGGA	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15206	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													28.0	33.0	31.0					22																	50728157		1951	4139	6090	-	-	-	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.857C>T	22.37:g.50728157G>A	ENSP00000409171:p.Ala286Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.A286V	ENST00000449103.1	37	c.857	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	5.676	0.309273	0.10733	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.10668	2.85;2.85;2.85	4.07	-3.59	0.04583	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	2.905180	0.01232	N	0.008395	T	0.04907	0.0132	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27739	-1.0065	10	0.10111	T	0.7	.	2.7019	0.05150	0.3699:0.3565:0.1715:0.1021	.	286	O15031	PLXB2_HUMAN	V	286	ENSP00000409171:A286V;ENSP00000352288:A286V;ENSP00000392620:A286V	ENSP00000352288:A286V	A	-	2	0	PLXNB2	49070284	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	0.239000	0.18023	-0.805000	0.04404	0.462000	0.41574	GCG	PLXNB2	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000196576		0.672	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	57	0.00	0	G	NM_012401		50728157	50728157	-1	no_errors	ENST00000359337	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	0.000	A
PM20D1	148811	genome.wustl.edu	37	1	205797688	205797688	+	3'UTR	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:205797688delC	ENST00000367136.4	-	0	1613				PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1						negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CACTAGCTTTCCCCCTTGGGT	0.512																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.*60G>-	1.37:g.205797688delC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4E3|Q96DM4	RNA	DEL	-	NULL	ENST00000367136.4	37	NULL	CCDS1460.1	1																																																																																			PM20D1	-	-	ENSG00000162877		0.512	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D1	HGNC	protein_coding	OTTHUMT00000087736.1	221	0.45	1	C	NM_152491		205797688	205797688	-1	no_errors	ENST00000460624	ensembl	human	known	69_37n	rna	398	16.15	78	DEL	0.000	-
PMP22	5376	genome.wustl.edu	37	17	15162486	15162486	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:15162486C>T	ENST00000395938.2	-	3	297	c.103G>A	c.(103-105)Gca>Aca	p.A35T	RP11-849N15.1_ENST00000579159.1_RNA|PMP22_ENST00000395936.1_Missense_Mutation_p.A35T|PMP22_ENST00000312280.3_Missense_Mutation_p.A35T|PMP22_ENST00000494511.1_Intron|PMP22_ENST00000426385.3_Missense_Mutation_p.A35T	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	35					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGATCAGTTGCGTGTCCATTG	0.507																																						dbGAP											0													214.0	162.0	180.0					17																	15162486		2203	4300	6503	-	-	-	SO:0001583	missense	0			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.103G>A	17.37:g.15162486C>T	ENSP00000379269:p.Ala35Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WV01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20	p.A35T	ENST00000395938.2	37	c.103	CCDS11168.1	17	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400941	0.11696	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.75	-7.07	0.01563	.	0.699358	0.14775	N	0.299162	T	0.63815	0.2543	N	0.02539	-0.55	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.58907	-0.7553	10	0.22706	T	0.39	-1.9375	5.5246	0.16951	0.5764:0.1719:0.0:0.2517	.	35	Q01453	PMP22_HUMAN	T	35	ENSP00000379269:A35T;ENSP00000308937:A35T;ENSP00000409824:A35T;ENSP00000379268:A35T	ENSP00000308937:A35T	A	-	1	0	PMP22	15103211	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.804000	0.01738	-1.479000	0.01867	-0.261000	0.10672	GCA	PMP22	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000109099		0.507	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	466	0.43	2	C	NM_000304		15162486	15162486	-1	no_errors	ENST00000312280	ensembl	human	known	69_37n	missense	328	36.80	191	SNP	0.000	T
PNMA5	114824	genome.wustl.edu	37	X	152159203	152159203	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:152159203A>G	ENST00000439251.1	-	2	1378	c.940T>C	c.(940-942)Tgt>Cgt	p.C314R	PNMA5_ENST00000535214.1_Missense_Mutation_p.C314R|PNMA5_ENST00000452693.1_Missense_Mutation_p.C314R|PNMA5_ENST00000361887.5_Missense_Mutation_p.C314R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	314					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGGAGGACACCCTCGCTGA	0.527																																						dbGAP											0													35.0	37.0	36.0					X																	152159203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.940T>C	X.37:g.152159203A>G	ENSP00000388850:p.Cys314Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.C314R	ENST00000439251.1	37	c.940	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	a	0.630	-0.817615	0.02776	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	3.07	1.89	0.25635	.	.	.	.	.	T	0.02267	0.0070	N	0.01789	-0.72	0.19300	N	0.999978	B	0.16396	0.017	B	0.10450	0.005	T	0.45673	-0.9245	9	0.02654	T	1	-0.5411	4.4489	0.11611	0.8407:0.0:0.1593:0.0	.	314	Q96PV4	PNMA5_HUMAN	R	314	ENSP00000354834:C314R;ENSP00000445775:C314R;ENSP00000388850:C314R;ENSP00000392342:C314R	ENSP00000354834:C314R	C	-	1	0	PNMA5	151909859	0.000000	0.05858	0.001000	0.08648	0.422000	0.31414	-0.220000	0.09215	0.447000	0.26695	0.237000	0.17872	TGT	PNMA5	-	NULL	ENSG00000198883		0.527	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	HGNC	protein_coding	OTTHUMT00000060925.1	40	0.00	0	A	NM_052926		152159203	152159203	-1	no_errors	ENST00000361887	ensembl	human	known	69_37n	missense	27	37.78	17	SNP	0.005	G
POLD1	5424	genome.wustl.edu	37	19	50906815	50906815	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:50906815C>T	ENST00000440232.2	+	10	1256	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	POLD1_ENST00000599857.1_Silent_p.F401F|POLD1_ENST00000595904.1_Silent_p.F401F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	401					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F401F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCCAGAACTTCGACCTTCCGT	0.627								DNA polymerases (catalytic subunits)																														dbGAP											2	Substitution - coding silent(2)	cervix(2)											226.0	194.0	205.0					19																	50906815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1203C>T	19.37:g.50906815C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NER3|Q96H98	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.F401	ENST00000440232.2	37	c.1203	CCDS12795.1	19																																																																																			POLD1	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000062822		0.627	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	244	0.00	0	C			50906815	50906815	+1	no_errors	ENST00000440232	ensembl	human	known	69_37n	silent	193	32.87	95	SNP	0.261	T
POLE3	54107	genome.wustl.edu	37	9	116172264	116172264	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:116172264T>C	ENST00000374171.4	-	3	323				C9orf43_ENST00000374165.1_5'Flank|POLE3_ENST00000479871.1_5'UTR|POLE3_ENST00000374169.3_Intron|C9orf43_ENST00000288462.4_5'Flank	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit						DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	ATCGTTGGGGTTTGTAGGCTC	0.532																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.152+70A>G	9.37:g.116172264T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0U1|Q8N758|Q8NCE5|Q9NR32	RNA	SNP	-	NULL	ENST00000374171.4	37	NULL	CCDS6795.1	9																																																																																			POLE3	-	-	ENSG00000148229		0.532	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	POLE3	HGNC	protein_coding	OTTHUMT00000053730.1	14	0.00	0	T	NM_017443		116172264	116172264	-1	no_errors	ENST00000479871	ensembl	human	known	69_37n	rna	18	21.74	5	SNP	0.001	C
POLK	51426	genome.wustl.edu	37	5	74865213	74865213	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:74865213A>G	ENST00000241436.4	+	4	476	c.304A>G	c.(304-306)Acc>Gcc	p.T102A	POLK_ENST00000504026.1_Missense_Mutation_p.T102A|POLK_ENST00000380481.3_Missense_Mutation_p.T12A|POLK_ENST00000352007.5_Missense_Mutation_p.T102A|POLK_ENST00000515295.1_Missense_Mutation_p.T102A|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.T102A	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	102					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTTGAGCAATACCATAGTGCA	0.333								DNA polymerases (catalytic subunits)																														dbGAP											0													98.0	92.0	94.0					5																	74865213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.304A>G	5.37:g.74865213A>G	ENSP00000241436:p.Thr102Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N	p.T102A	ENST00000241436.4	37	c.304	CCDS4030.1	5	.	.	.	.	.	.	.	.	.	.	A	13.36	2.213491	0.39102	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000514296;ENST00000515295;ENST00000504026;ENST00000508526;ENST00000380481	T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.61	5.61	0.85477	.	0.236753	0.47455	D	0.000224	T	0.70245	0.3202	M	0.65498	2.005	0.37385	D	0.912192	B;B;B;P	0.36990	0.122;0.04;0.073;0.577	B;B;B;B	0.37091	0.162;0.015;0.12;0.241	T	0.75013	-0.3467	10	0.39692	T	0.17	-8.5276	16.0973	0.81135	1.0:0.0:0.0:0.0	.	102;102;102;102	Q9UBT6-3;Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;.;POLK_HUMAN	A	102;102;102;102;102;102;12	ENSP00000241436:T102A;ENSP00000342256:T102A;ENSP00000425208:T102A;ENSP00000424174:T102A;ENSP00000425075:T102A;ENSP00000426853:T102A;ENSP00000369848:T12A	ENSP00000241436:T102A	T	+	1	0	POLK	74900969	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	5.023000	0.64084	2.263000	0.75096	0.377000	0.23210	ACC	POLK	-	NULL	ENSG00000122008		0.333	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLK	HGNC	protein_coding	OTTHUMT00000219945.3	273	0.00	0	A	NM_016218		74865213	74865213	+1	no_errors	ENST00000241436	ensembl	human	known	69_37n	missense	225	35.34	123	SNP	1.000	G
POLR3A	11128	genome.wustl.edu	37	10	79767519	79767519	+	Frame_Shift_Del	DEL	C	C	-	rs267608670		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:79767519delC	ENST00000372371.3	-	15	2152	c.2015delG	c.(2014-2016)ggafs	p.G672fs		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	672			G -> E (in HLD7). {ECO:0000269|PubMed:21855841}.		defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTCATTCTGTCCCCAGTCTCG	0.468																																						dbGAP											0													107.0	102.0	103.0					10																	79767519		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2015delG	10.37:g.79767519delC	ENSP00000361446:p.Gly672fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW34|Q8TCW5	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.G672fs	ENST00000372371.3	37	c.2015	CCDS7354.1	10																																																																																			POLR3A	-	pfam_RNA_pol_Rpb1_3	ENSG00000148606		0.468	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	215	0.00	0	C	NM_007055		79767519	79767519	-1	no_errors	ENST00000372371	ensembl	human	known	69_37n	frame_shift_del	136	37.10	82	DEL	1.000	-
POMT1	10585	genome.wustl.edu	37	9	134390889	134390890	+	Frame_Shift_Ins	INS	-	-	C	rs369651101|rs142057517		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:134390889_134390890insC	ENST00000372228.3	+	13	1497_1498	c.1318_1319insC	c.(1318-1320)gccfs	p.A440fs	RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000423007.1_Frame_Shift_Ins_p.A418fs|POMT1_ENST00000354713.4_Frame_Shift_Ins_p.A388fs|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000341012.7_Frame_Shift_Ins_p.A364fs|POMT1_ENST00000419118.2_Frame_Shift_Ins_p.A266fs|POMT1_ENST00000541219.1_Frame_Shift_Ins_p.A196fs|POMT1_ENST00000402686.3_Frame_Shift_Ins_p.A418fs|POMT1_ENST00000404875.2_Frame_Shift_Ins_p.A301fs	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	440	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTCCATGCCCGCCCAGAACCTC	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1321dupC	9.37:g.134390892_134390892dupC	ENSP00000361302:p.Ala440fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Frame_Shift_Ins	INS	pfam_Glyco_trans_39,pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	p.Q441fs	ENST00000372228.3	37	c.1318_1319	CCDS6943.1	9																																																																																			POMT1	-	pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif	ENSG00000130714		0.554	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	159	0.00	0	-	NM_007171		134390889	134390890	+1	no_errors	ENST00000372228	ensembl	human	known	69_37n	frame_shift_ins	111	34.32	58	INS	0.291:0.971	C
POP4	10775	genome.wustl.edu	37	19	30101471	30101471	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:30101471A>G	ENST00000585603.1	+	3	2518	c.216A>G	c.(214-216)aaA>aaG	p.K72K	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Intron|POP4_ENST00000221770.3_Intron			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	72	Poly-Lys.				mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AGAAGAAGAAAGCCAAAGGCC	0.627											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(89;1165 1449 14085 34436 43672)	dbGAP											0													44.0	50.0	48.0					19																	30101471		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.216A>G	19.37:g.30101471A>G		Somatic	814	WXS	Illumina GAIIx	Phase_IV	Q5XKL7|Q6FHW9|Q9UQQ3	Silent	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.K72	ENST00000585603.1	37	c.216	CCDS12416.1	19																																																																																			POP4	-	pirsf_RNase_P/MRP_p29-subunit	ENSG00000105171		0.627	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	78	0.00	0	A	NM_006627		30101471	30101471	+1	no_errors	ENST00000585603	ensembl	human	known	69_37n	silent	48	34.25	25	SNP	0.543	G
POTEF	728378	genome.wustl.edu	37	2	130832949	130832949	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:130832949A>G	ENST00000409914.2	-	17	2495	c.2096T>C	c.(2095-2097)cTc>cCc	p.L699P	POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000357462.5_Missense_Mutation_p.L699P|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	699					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATCCATGGTGAGCTCATTCAA	0.468																																						dbGAP											0													20.0	23.0	22.0					2																	130832949		2128	4256	6384	-	-	-	SO:0001583	missense	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2096T>C	2.37:g.130832949A>G	ENSP00000386786:p.Leu699Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L699P	ENST00000409914.2	37	c.2096	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	8.761	0.923706	0.18056	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.13657	2.57;2.57	0.364	0.364	0.16124	.	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.80722	D	1	P	0.49185	0.92	B	0.43478	0.421	T	0.37244	-0.9714	9	0.72032	D	0.01	.	5.1242	0.14876	0.9998:0.0:2.0E-4:0.0	.	699	A5A3E0	POTEF_HUMAN	P	699	ENSP00000350052:L699P;ENSP00000386786:L699P	ENSP00000350052:L699P	L	-	2	0	POTEF	130549419	1.000000	0.71417	0.330000	0.25442	0.123000	0.20343	3.189000	0.50965	0.391000	0.25143	0.102000	0.15555	CTC	POTEF	-	NULL	ENSG00000196604		0.468	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	275	0.00	0	A	NM_001099771		130832949	130832949	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	missense	203	33.55	103	SNP	0.979	G
POU3F4	5456	genome.wustl.edu	37	X	82763664	82763664	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:82763664C>T	ENST00000373200.2	+	1	396	c.332C>T	c.(331-333)cCc>cTc	p.P111L	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	111					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACTAACCACCCCAACGCCTGG	0.657																																						dbGAP											0													35.0	32.0	33.0					X																	82763664		2195	4298	6493	-	-	-	SO:0001583	missense	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.332C>T	X.37:g.82763664C>T	ENSP00000362296:p.Pro111Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P111L	ENST00000373200.2	37	c.332	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897174	0.33535	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.97	4.97	0.65823	.	0.282708	0.32093	N	0.006583	T	0.78046	0.4222	L	0.60455	1.87	0.58432	D	0.999996	P	0.36683	0.565	B	0.27380	0.079	T	0.75323	-0.3358	10	0.12430	T	0.62	.	12.7046	0.57054	0.0:0.8371:0.1629:0.0	.	111	P49335	PO3F4_HUMAN	L	111	ENSP00000362296:P111L	ENSP00000362296:P111L	P	+	2	0	POU3F4	82650320	0.999000	0.42202	0.869000	0.34112	0.849000	0.48306	3.435000	0.52849	2.198000	0.70561	0.522000	0.50473	CCC	POU3F4	-	pirsf_Transcription_factor_POU	ENSG00000196767		0.657	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	53	0.00	0	C	NM_000307		82763664	82763664	+1	no_errors	ENST00000373200	ensembl	human	known	69_37n	missense	34	30.61	15	SNP	0.998	T
POU3F4	5456	genome.wustl.edu	37	X	82764178	82764178	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:82764178G>A	ENST00000373200.2	+	1	910	c.846G>A	c.(844-846)cgG>cgA	p.R282R	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	282					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCAAGAAGCGGACCTCCATCG	0.622																																						dbGAP											0													49.0	39.0	43.0					X																	82764178		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.846G>A	X.37:g.82764178G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC71|Q5H9G9|Q99410	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.R282	ENST00000373200.2	37	c.846	CCDS14450.1	X																																																																																			POU3F4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,prints_POU	ENSG00000196767		0.622	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	75	0.00	0	G	NM_000307		82764178	82764178	+1	no_errors	ENST00000373200	ensembl	human	known	69_37n	silent	48	35.14	26	SNP	1.000	A
PPAN	56342	genome.wustl.edu	37	19	10221410	10221410	+	Frame_Shift_Del	DEL	G	G	-	rs150699750		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:10221410delG	ENST00000253107.7	+	11	1175	c.1069delG	c.(1069-1071)gggfs	p.G358fs	SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000556468.1_Frame_Shift_Del_p.G358fs|PPAN_ENST00000393793.1_Frame_Shift_Del_p.G305fs|P2RY11_ENST00000321826.4_5'Flank|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000393796.4_Frame_Shift_Del_p.G358fs|PPAN-P2RY11_ENST00000428358.1_Frame_Shift_Del_p.G358fs	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	358			G -> V (in dbSNP:rs2305793).		RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGCACGGGTCGGGGGTAGTGA	0.602																																						dbGAP											0									,,	4,4260		2,0,2130	61.0	69.0	67.0		,,	-9.0	0.0	19		64	5,8249		2,1,4124	no	frameshift,frameshift,frameshift	PPAN,PPAN-P2RY11	NM_020230.5,NM_001198690.1,NM_001040664.2	,,	4,1,6254	A1A1,A1R,RR		0.0606,0.0938,0.0719	,,	,,	10221410	9,12509	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1069delG	19.37:g.10221410delG	ENSP00000253107:p.Gly358fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J3F9|Q9BW97|Q9H170	Frame_Shift_Del	DEL	pfam_Brix,pfam_7TM_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_P2_purnocptor,prints_7TM_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_supfam	p.G358fs	ENST00000253107.7	37	c.1069	CCDS12225.1	19																																																																																			PPAN-P2RY11	-	NULL	ENSG00000243207		0.602	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316658.1	91	0.00	0	G	NM_020230		10221410	10221410	+1	no_errors	ENST00000393796	ensembl	human	known	69_37n	frame_shift_del	39	58.42	59	DEL	0.000	-
PPAPDC3	84814	genome.wustl.edu	37	9	134183534	134183534	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:134183534G>T	ENST00000372264.3	+	2	980	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	226					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCTCTGCGTGGGCCTGTCCCG	0.672																																						dbGAP											0													73.0	63.0	66.0					9																	134183534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.676G>T	9.37:g.134183534G>T	ENSP00000361338:p.Gly226Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.G226C	ENST00000372264.3	37	c.676	CCDS6942.1	9	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451493	0.84209	.	.	ENSG00000160539	ENST00000372264	D	0.83419	-1.72	4.68	4.68	0.58851	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90560	0.4515	10	0.45353	T	0.12	-39.34	16.9898	0.86350	0.0:0.0:1.0:0.0	.	226	Q8NBV4	PPAC3_HUMAN	C	226	ENSP00000361338:G226C	ENSP00000361338:G226C	G	+	1	0	PPAPDC3	133173355	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.291000	0.96070	2.296000	0.77279	0.505000	0.49811	GGC	PPAPDC3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000160539		0.672	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC3	HGNC	protein_coding	OTTHUMT00000054724.1	86	0.00	0	G	NM_032728		134183534	134183534	+1	no_errors	ENST00000372264	ensembl	human	known	69_37n	missense	48	53.85	56	SNP	1.000	T
PPFIBP2	8495	genome.wustl.edu	37	11	7660967	7660967	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:7660967G>A	ENST00000299492.4	+	15	1629	c.1241G>A	c.(1240-1242)aGc>aAc	p.S414N	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S302N|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S271N|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S256N	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	414					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAATAGGACAGCCCTTTCTTG	0.502																																						dbGAP											0													181.0	187.0	185.0					11																	7660967		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1241G>A	11.37:g.7660967G>A	ENSP00000299492:p.Ser414Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S414N	ENST00000299492.4	37	c.1241	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974441	0.34848	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081	T;T;T;T	0.30714	1.94;1.53;1.94;1.52	5.78	1.62	0.23740	.	0.457993	0.24757	N	0.035847	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	0.999998	B;B;B;B;B;B	0.25007	0.002;0.116;0.004;0.049;0.116;0.002	B;B;B;B;B;B	0.24006	0.003;0.05;0.006;0.031;0.031;0.002	T	0.17077	-1.0381	10	0.20519	T	0.43	-0.7945	4.3893	0.11332	0.2789:0.1802:0.5409:0.0	.	302;302;337;256;271;414	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	N	414;256;256;337;302;271;58	ENSP00000299492:S414N;ENSP00000436498:S256N;ENSP00000435469:S302N;ENSP00000437321:S271N	ENSP00000299492:S414N	S	+	2	0	PPFIBP2	7617543	0.054000	0.20591	0.971000	0.41717	0.358000	0.29455	1.336000	0.33850	0.797000	0.33971	-0.259000	0.10710	AGC	PPFIBP2	-	NULL	ENSG00000166387		0.502	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	113	0.00	0	G	NM_003621		7660967	7660967	+1	no_errors	ENST00000299492	ensembl	human	known	69_37n	missense	81	34.68	43	SNP	0.398	A
PPIE	10450	genome.wustl.edu	37	1	40205846	40205846	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:40205846C>T	ENST00000324379.5	+	2	60	c.41C>T	c.(40-42)gCa>gTa	p.A14V	PPIE_ENST00000372830.1_Missense_Mutation_p.A14V|PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Missense_Mutation_p.A14V|PPIE_ENST00000470213.1_Missense_Mutation_p.A14V	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	14	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGTGGACTGGCAGAGGAAGTG	0.488																																						dbGAP											0													198.0	169.0	179.0					1																	40205846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.41C>T	1.37:g.40205846C>T	ENSP00000312769:p.Ala14Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,prints_Cyclophilin-like_PPIase_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom	p.A14V	ENST00000324379.5	37	c.41	CCDS443.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.608227	0.96626	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000470213;ENST00000372835;ENST00000372830	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	4.79	4.79	0.61399	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	L	0.52011	1.625	0.80722	D	1	P;P;P	0.52692	0.955;0.944;0.84	P;P;P	0.57009	0.811;0.475;0.653	T	0.83050	-0.0153	10	0.87932	D	0	-20.7243	17.6017	0.88027	0.0:1.0:0.0:0.0	.	14;14;14	Q5TGA3;Q9UNP9-2;Q9UNP9	.;.;PPIE_HUMAN	V	14	ENSP00000312769:A14V;ENSP00000348904:A14V;ENSP00000431714:A14V;ENSP00000361925:A14V;ENSP00000361918:A14V	ENSP00000312769:A14V	A	+	2	0	PPIE	39978433	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.185000	0.77714	2.491000	0.84063	0.655000	0.94253	GCA	PPIE	-	pfam_RRM_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom	ENSG00000084072		0.488	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIE	HGNC	protein_coding	OTTHUMT00000025642.2	501	0.20	1	C	NM_006112		40205846	40205846	+1	no_errors	ENST00000324379	ensembl	human	known	69_37n	missense	366	36.66	213	SNP	1.000	T
PPIP5K2	23262	genome.wustl.edu	37	5	102537309	102537309	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:102537309delA	ENST00000358359.3	+	31	4215	c.3706delA	c.(3706-3708)aaafs	p.K1237fs	PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1216fs|PPIP5K2_ENST00000321521.9_Frame_Shift_Del_p.K1216fs	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1237					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCATGAACACAAAAAAAACAC	0.318																																						dbGAP											0													68.0	72.0	71.0					5																	102537309		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3706delA	5.37:g.102537309delA	ENSP00000351126:p.Lys1237fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1NI53|A6NGS8|Q8TB50	Frame_Shift_Del	DEL	pfam_His_Pase_superF_clade-2	p.N1238fs	ENST00000358359.3	37	c.3706		5																																																																																			PPIP5K2	-	NULL	ENSG00000145725		0.318	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	282	0.00	0	A	NM_015216		102537309	102537309	+1	no_errors	ENST00000358359	ensembl	human	known	69_37n	frame_shift_del	236	34.52	126	DEL	0.999	-
PPM1F	9647	genome.wustl.edu	37	22	22287849	22287849	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:22287849G>A	ENST00000263212.5	-	5	766	c.661C>T	c.(661-663)Cca>Tca	p.P221S	PPM1F_ENST00000538191.1_Missense_Mutation_p.P117S|PPM1F_ENST00000407142.1_Missense_Mutation_p.P53S|PPM1F_ENST00000397495.4_Missense_Mutation_p.P221S	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	221					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GGCAGCTCTGGCTGGCGGGCA	0.637																																						dbGAP											0													61.0	55.0	57.0					22																	22287849		2203	4299	6502	-	-	-	SO:0001583	missense	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.661C>T	22.37:g.22287849G>A	ENSP00000263212:p.Pro221Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.P221S	ENST00000263212.5	37	c.661	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	G	9.333	1.060973	0.19987	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495;ENST00000445205	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	4.96	4.96	0.65561	Protein phosphatase 2C-like (5);	0.515192	0.21831	N	0.068472	T	0.14442	0.0349	N	0.20766	0.605	0.29939	N	0.821212	B;B;P	0.37548	0.425;0.392;0.599	B;B;P	0.45167	0.243;0.27;0.472	T	0.05801	-1.0863	10	0.31617	T	0.26	-20.5606	8.8542	0.35219	0.0:0.2703:0.5884:0.1414	.	117;221;221	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	S	221;53;53;117;221;53	ENSP00000263212:P221S;ENSP00000384930:P53S;ENSP00000439915:P117S;ENSP00000380632:P221S;ENSP00000392372:P53S	ENSP00000263212:P221S	P	-	1	0	PPM1F	20617849	0.574000	0.26684	0.027000	0.17364	0.002000	0.02628	2.420000	0.44679	2.574000	0.86865	0.561000	0.74099	CCA	PPM1F	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000100034		0.637	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	75	0.00	0	G	NM_014634		22287849	22287849	-1	no_errors	ENST00000263212	ensembl	human	known	69_37n	missense	49	37.18	29	SNP	0.694	A
PPM1J	333926	genome.wustl.edu	37	1	113253100	113253100	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:113253100T>G	ENST00000309276.6	-	9	1527	c.1352A>C	c.(1351-1353)gAg>gCg	p.E451A	PPM1J_ENST00000359994.4_Missense_Mutation_p.E245A|RP11-426L16.10_ENST00000606505.1_Nonstop_Mutation_p.*132C|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000464951.1_Missense_Mutation_p.E245A	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	451	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCATTAGGCTCATAGGCCGA	0.557																																						dbGAP											0													112.0	96.0	102.0					1																	113253100		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1352A>C	1.37:g.113253100T>G	ENSP00000308926:p.Glu451Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E451A	ENST00000309276.6	37	c.1352	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385067	0.61956	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.16073	2.37;2.37	5.51	5.51	0.81932	Protein phosphatase 2C-like (5);	0.057143	0.64402	D	0.000001	T	0.21962	0.0529	L	0.45352	1.415	0.58432	D	0.999995	D;P	0.64830	0.994;0.486	D;B	0.64506	0.926;0.356	T	0.01001	-1.1485	10	0.40728	T	0.16	-22.0408	15.2706	0.73699	0.0:0.0:0.0:1.0	.	451;245	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	A	451;245	ENSP00000308926:E451A;ENSP00000353088:E245A	ENSP00000308926:E451A	E	-	2	0	PPM1J	113054623	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.628000	0.83189	2.103000	0.63969	0.402000	0.26972	GAG	PPM1J	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000155367		0.557	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	330	0.00	0	T	NM_005167		113253100	113253100	-1	no_errors	ENST00000309276	ensembl	human	known	69_37n	missense	169	41.52	120	SNP	1.000	G
PPP1R15A	23645	genome.wustl.edu	37	19	49377486	49377486	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:49377486delC	ENST00000200453.5	+	2	1265	c.996delC	c.(994-996)atcfs	p.I332fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	332	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCCTGCATCCCCCCACCAA	0.562																																						dbGAP											0													78.0	78.0	78.0					19																	49377486		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.996delC	19.37:g.49377486delC	ENSP00000200453:p.Ile332fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Del	DEL	pfam_Prot_Pase1_reg-su15A/B_C	p.P334fs	ENST00000200453.5	37	c.996	CCDS12738.1	19																																																																																			PPP1R15A	-	NULL	ENSG00000087074		0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	237	0.00	0	C	NM_014330		49377486	49377486	+1	no_errors	ENST00000200453	ensembl	human	known	69_37n	frame_shift_del	173	30.59	78	DEL	0.000	-
PPP2R1A	5518	genome.wustl.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617			Mis		clear cell ovarian carcinoma																																	dbGAP		Dom?	yes		19	19q13.41	5518	"""protein phosphatase 2, regulatory subunit A, alpha"""		E	24	Substitution - Missense(24)	ovary(16)|endometrium(4)|large_intestine(3)|pancreas(1)											69.0	57.0	61.0					19																	52715982		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.547C>T	19.37:g.52715982C>T	ENSP00000324804:p.Arg183Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R183W	ENST00000322088.6	37	c.547	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360081	0.82353	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06528	3.29;3.29	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.114427	0.37136	N	0.002231	T	0.34193	0.0889	H	0.96333	3.805	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	T	0.40459	-0.9562	10	0.87932	D	0	-15.4468	10.2034	0.43099	0.1981:0.8019:0.0:0.0	.	128;183;183	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	W	173;103;183;128	ENSP00000324804:R183W;ENSP00000415067:R128W	ENSP00000324804:R183W	R	+	1	2	PPP2R1A	57407794	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.933000	0.63484	2.503000	0.84419	0.655000	0.94253	CGG	PPP2R1A	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000105568		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	76	0.00	0	C	NM_014225		52715982	52715982	+1	no_errors	ENST00000322088	ensembl	human	known	69_37n	missense	56	38.71	36	SNP	1.000	T
PPP2R3C	55012	genome.wustl.edu	37	14	35585935	35585935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:35585935delT	ENST00000261475.5	-	2	420	c.67delA	c.(67-69)agtfs	p.S23fs	PPP2R3C_ENST00000555644.1_Frame_Shift_Del_p.S23fs	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	23					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCTTGTTCACTTTTTTTTTCT	0.269																																						dbGAP											0													50.0	52.0	52.0					14																	35585935		2202	4298	6500	-	-	-	SO:0001589	frameshift_variant	0			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.67delA	14.37:g.35585935delT	ENSP00000261475:p.Ser23fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Frame_Shift_Del	DEL	NULL	p.S23fs	ENST00000261475.5	37	c.67	CCDS9654.1	14																																																																																			PPP2R3C	-	NULL	ENSG00000092020		0.269	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1	211	0.00	0	T	NM_017917		35585935	35585935	-1	no_errors	ENST00000261475	ensembl	human	known	69_37n	frame_shift_del	118	32.77	58	DEL	1.000	-
PRAM1	84106	genome.wustl.edu	37	19	8563815	8563815	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:8563815G>T	ENST00000423345.4	-	2	1397	c.877C>A	c.(877-879)Ctc>Atc	p.L293I	PRAM1_ENST00000255612.3_Missense_Mutation_p.L293I			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	341	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GTCCTGGTGAGGTCCCCAAGC	0.652																																						dbGAP											0													28.0	30.0	29.0					19																	8563815		2194	4297	6491	-	-	-	SO:0001583	missense	0			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.877C>A	19.37:g.8563815G>T	ENSP00000408342:p.Leu293Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.L293I	ENST00000423345.4	37	c.877	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445049	0.63178	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.27720	1.65;1.65	4.26	4.26	0.50523	.	0.000000	0.38720	N	0.001581	T	0.55000	0.1893	M	0.74881	2.28	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.47315	-0.9127	10	0.62326	D	0.03	.	14.9833	0.71327	0.0:0.0:1.0:0.0	.	293;341	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	I	293	ENSP00000255612:L293I;ENSP00000408342:L293I	ENSP00000255612:L293I	L	-	1	0	PRAM1	8469815	0.298000	0.24417	0.138000	0.22173	0.006000	0.05464	1.161000	0.31773	2.662000	0.90505	0.655000	0.94253	CTC	PRAM1	-	NULL	ENSG00000133246		0.652	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	41	0.00	0	G	NM_032152		8563815	8563815	-1	no_errors	ENST00000423345	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	0.125	T
PRB3	5544	genome.wustl.edu	37	12	11420585	11420585	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:11420585G>A	ENST00000279573.7	-	3	733	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	PRB3_ENST00000538488.1_Missense_Mutation_p.R179C|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.R200C			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	200	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)		p.R200C(1)|p.R179C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											89.0	121.0	112.0					12																	11420585		1613	3640	5253	-	-	-	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.598C>T	12.37:g.11420585G>A	ENSP00000279573:p.Arg200Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.R200C	ENST00000279573.7	37	c.598		12	.	.	.	.	.	.	.	.	.	.	.	4.361	0.066566	0.08388	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05081	3.5;3.51	0.894	-1.79	0.07932	.	20.095700	0.02208	U	0.062937	T	0.03390	0.0098	.	.	.	0.09310	N	1	P	0.50066	0.931	B	0.31390	0.129	T	0.31971	-0.9924	9	0.59425	D	0.04	.	0.3334	0.00322	0.2084:0.2458:0.2994:0.2464	.	200	Q04118	PRB3_HUMAN	C	200;179	ENSP00000371264:R200C;ENSP00000442626:R179C	ENSP00000279573:R200C	R	-	1	0	PRB3	11311852	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.481000	0.02323	-0.639000	0.05502	0.134000	0.15878	CGT	PRB3	-	NULL	ENSG00000197870		0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	287	0.00	0	G	NM_006249		11420585	11420585	-1	no_errors	ENST00000381842	ensembl	human	known	69_37n	missense	233	25.00	78	SNP	0.000	A
PRDX5	25824	genome.wustl.edu	37	11	64087315	64087315	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:64087315G>T	ENST00000265462.4	+	2	409	c.281G>T	c.(280-282)gGg>gTg	p.G94V	PRDX5_ENST00000347941.4_Intron|TRMT112_ENST00000535126.1_5'Flank|TRMT112_ENST00000535750.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank|TRMT112_ENST00000544844.1_5'Flank|PRDX5_ENST00000352435.4_Missense_Mutation_p.G94V|TRMT112_ENST00000539854.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	94	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	GGAGTTCCTGGGGCCTTCACC	0.552																																						dbGAP											0													161.0	147.0	152.0					11																	64087315		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.281G>T	11.37:g.64087315G>T	ENSP00000265462:p.Gly94Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	p.G94V	ENST00000265462.4	37	c.281	CCDS8069.1	11	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790528	0.70337	.	.	ENSG00000126432	ENST00000265462;ENST00000352435	T;T	0.73469	0.2;-0.75	4.35	3.43	0.39272	Redoxin (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.91846	0.5487	10	0.87932	D	0	-17.5257	10.4317	0.44411	0.0978:0.0:0.9022:0.0	.	94;94	A6NG06;P30044	.;PRDX5_HUMAN	V	94	ENSP00000265462:G94V;ENSP00000335334:G94V	ENSP00000265462:G94V	G	+	2	0	PRDX5	63843891	1.000000	0.71417	0.985000	0.45067	0.934000	0.57294	8.626000	0.90969	0.982000	0.38575	0.456000	0.33151	GGG	PRDX5	-	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	ENSG00000126432		0.552	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX5	HGNC	protein_coding	OTTHUMT00000401148.1	261	0.00	0	G	NM_181651		64087315	64087315	+1	no_errors	ENST00000265462	ensembl	human	known	69_37n	missense	144	49.12	139	SNP	1.000	T
PRDM10	56980	genome.wustl.edu	37	11	129785682	129785682	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:129785682A>G	ENST00000360871.3	-	16	2630	c.2399T>C	c.(2398-2400)aTt>aCt	p.I800T	PRDM10_ENST00000358825.5_Missense_Mutation_p.I804T|PRDM10_ENST00000526082.1_Missense_Mutation_p.I718T|PRDM10_ENST00000528746.1_Missense_Mutation_p.I774T|PRDM10_ENST00000423662.2_Missense_Mutation_p.I718T|PRDM10_ENST00000304538.6_Missense_Mutation_p.I714T	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GAGCTTCCGAATGCTCGGTGG	0.597																																						dbGAP											0													121.0	119.0	119.0					11																	129785682		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2399T>C	11.37:g.129785682A>G	ENSP00000354118:p.Ile800Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I804T	ENST00000360871.3	37	c.2411	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421128	0.83559	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.11821	2.75;2.82;2.75;2.74;2.81;2.74;2.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D	0.67145	0.993;0.996;0.993;0.996;0.964;0.996	D;D;D;D;P;D	0.77557	0.977;0.99;0.977;0.99;0.786;0.99	T	0.28713	-1.0035	10	0.87932	D	0	-22.229	16.8222	0.85835	1.0:0.0:0.0:0.0	.	714;800;804;718;714;718	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	T	804;714;800;718;774;718;517	ENSP00000351686:I804T;ENSP00000302669:I714T;ENSP00000354118:I800T;ENSP00000398431:I718T;ENSP00000431262:I774T;ENSP00000432237:I718T;ENSP00000435940:I517T	ENSP00000302669:I714T	I	-	2	0	PRDM10	129290892	1.000000	0.71417	0.987000	0.45799	0.852000	0.48524	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ATT	PRDM10	-	NULL	ENSG00000170325		0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	207	0.00	0	A	NM_199437		129785682	129785682	-1	no_errors	ENST00000358825	ensembl	human	known	69_37n	missense	154	35.29	84	SNP	1.000	G
PREP	5550	genome.wustl.edu	37	6	105771556	105771556	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:105771556T>C	ENST00000369110.3	-	10	1493	c.1301A>G	c.(1300-1302)gAt>gGt	p.D434G		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	434					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TGTCTGGTAATCAGAAGCATC	0.418																																						dbGAP											0													162.0	144.0	150.0					6																	105771556		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1301A>G	6.37:g.105771556T>C	ENSP00000358106:p.Asp434Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.D434G	ENST00000369110.3	37	c.1301	CCDS5053.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.01|14.01	2.406991|2.406991	0.42715|0.42715	.|.	.|.	ENSG00000085377|ENSG00000085377	ENST00000369110;ENST00000535457|ENST00000448705	T|.	0.35605|.	1.3|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.088225|.	0.85682|.	D|.	0.000000|.	T|T	0.46464|0.46464	0.1394|0.1394	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.09377|.	0.004|.	T|T	0.51655|0.51655	-0.8678|-0.8678	10|5	0.51188|.	T|.	0.08|.	-20.9466|-20.9466	8.3884|8.3884	0.32514|0.32514	0.1353:0.0:0.126:0.7387|0.1353:0.0:0.126:0.7387	.|.	434|.	P48147|.	PPCE_HUMAN|.	G|V	434;29|30	ENSP00000358106:D434G|.	ENSP00000358106:D434G|.	D|I	-|-	2|1	0|0	PREP|PREP	105878249|105878249	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.118000|4.118000	0.57884|0.57884	2.252000|2.252000	0.74401|0.74401	0.533000|0.533000	0.62120|0.62120	GAT|ATT	PREP	-	NULL	ENSG00000085377		0.418	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	378	0.00	0	T			105771556	105771556	-1	no_errors	ENST00000369110	ensembl	human	known	69_37n	missense	283	27.25	106	SNP	1.000	C
PREX1	57580	genome.wustl.edu	37	20	47256378	47256378	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:47256378C>T	ENST00000371941.3	-	30	3852	c.3830G>A	c.(3829-3831)aGc>aAc	p.S1277N	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.S1277N	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1277					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCCTGGATGCTAATCTGGAT	0.557																																						dbGAP											0													158.0	151.0	154.0					20																	47256378		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3830G>A	20.37:g.47256378C>T	ENSP00000361009:p.Ser1277Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1277N	ENST00000371941.3	37	c.3830	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290485	0.40494	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37752	1.18;1.18	5.19	5.19	0.71726	.	0.263366	0.31648	U	0.007285	T	0.22513	0.0543	N	0.15975	0.35	0.28591	N	0.909663	B;B	0.09022	0.001;0.002	B;B	0.12837	0.003;0.008	T	0.08411	-1.0723	10	0.30854	T	0.27	.	12.5001	0.55950	0.0:0.9236:0.0:0.0764	.	1277;574	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	N	1277	ENSP00000361009:S1277N;ENSP00000379522:S1277N	ENSP00000361009:S1277N	S	-	2	0	PREX1	46689785	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.720000	0.54933	2.590000	0.87494	0.650000	0.86243	AGC	PREX1	-	NULL	ENSG00000124126		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	332	0.00	0	C	NM_020820		47256378	47256378	-1	no_errors	ENST00000371941	ensembl	human	known	69_37n	missense	219	31.89	103	SNP	1.000	T
PRICKLE3	4007	genome.wustl.edu	37	X	49034493	49034493	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:49034493G>A	ENST00000376317.3	-	7	898	c.804C>T	c.(802-804)ggC>ggT	p.G268G	PRICKLE3_ENST00000540849.1_Silent_p.G200G|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000536904.1_Silent_p.G187G	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	268	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GCCAGTGGCGGCCCTCAGCCT	0.622																																						dbGAP											0													41.0	36.0	37.0					X																	49034493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.804C>T	X.37:g.49034493G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P281S	ENST00000376317.3	37	c.841	CCDS14320.1	X	.	.	.	.	.	.	.	.	.	.	G	7.845	0.722738	0.15439	.	.	ENSG00000012211	ENST00000453382;ENST00000432913	.	.	.	4.67	3.79	0.43588	.	.	.	.	.	T	0.54711	0.1875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50065	-0.8871	4	.	.	.	-1.9477	5.7027	0.17891	0.1082:0.1954:0.6964:0.0	.	.	.	.	S	281;279	.	.	P	-	1	0	PRICKLE3	48921437	0.972000	0.33761	1.000000	0.80357	0.877000	0.50540	0.135000	0.15952	0.938000	0.37419	0.416000	0.27883	CCG	PRICKLE3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000012211		0.622	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	83	0.00	0	G	NM_006150		49034493	49034493	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453382	ensembl	human	known	69_37n	missense	44	43.90	36	SNP	0.995	A
PRKAB2	5565	genome.wustl.edu	37	1	146643618	146643618	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:146643618T>C	ENST00000254101.3	-	2	244	c.106A>G	c.(106-108)Atg>Gtg	p.M36V	RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|PRKAB2_ENST00000425272.2_Silent_p.S9S	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	36					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	CTCCCCACCATGATCTTGTGC	0.657																																						dbGAP											0													56.0	44.0	48.0					1																	146643618		2200	4297	6497	-	-	-	SO:0001583	missense	0			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.106A>G	1.37:g.146643618T>C	ENSP00000254101:p.Met36Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.M36V	ENST00000254101.3	37	c.106	CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913784	0.52439	.	.	ENSG00000131791	ENST00000254101	.	.	.	4.08	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	L	0.57536	1.79	0.80722	D	1	B	0.24533	0.105	B	0.17979	0.02	T	0.14364	-1.0475	9	0.34782	T	0.22	.	8.7476	0.34596	0.0:0.0:0.1922:0.8078	.	36	O43741	AAKB2_HUMAN	V	36	.	ENSP00000254101:M36V	M	-	1	0	PRKAB2	145110242	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.530000	0.53539	0.590000	0.29694	0.482000	0.46254	ATG	PRKAB2	-	NULL	ENSG00000131791		0.657	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	HGNC	protein_coding	OTTHUMT00000039471.1	30	0.00	0	T	NM_005399		146643618	146643618	-1	no_errors	ENST00000254101	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	1.000	C
PRKCA	5578	genome.wustl.edu	37	17	64641576	64641576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:64641576delG	ENST00000413366.3	+	5	502	c.476delG	c.(475-477)aggfs	p.R159fs		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	159					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	ACTGAGAAGAGGGGGCGGATT	0.522																																						dbGAP											0													158.0	139.0	145.0					17																	64641576		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.476delG	17.37:g.64641576delG	ENSP00000408695:p.Arg159fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU22|Q15137|Q32M72|Q96RE4	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.R161fs	ENST00000413366.3	37	c.476	CCDS11664.1	17																																																																																			PRKCA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Protein_kinase_C_a/b/g	ENSG00000154229		0.522	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCA	HGNC	protein_coding	OTTHUMT00000446976.1	375	0.00	0	G			64641576	64641576	+1	no_errors	ENST00000413366	ensembl	human	known	69_37n	frame_shift_del	845	13.39	131	DEL	1.000	-
PRKCG	5582	genome.wustl.edu	37	19	54403525	54403525	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:54403525A>G	ENST00000263431.3	+	12	1602	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	PRKCG_ENST00000542049.1_Silent_p.G327G|PRKCG_ENST00000540413.1_Silent_p.G440G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	440	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCACCGGGGGAGACTTGATGT	0.557																																						dbGAP											0													88.0	85.0	86.0					19																	54403525		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1320A>G	19.37:g.54403525A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8Q0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.G440	ENST00000263431.3	37	c.1320	CCDS12867.1	19																																																																																			PRKCG	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000126583		0.557	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	150	0.66	1	A	NM_002739		54403525	54403525	+1	no_errors	ENST00000540413	ensembl	human	known	69_37n	silent	70	48.53	66	SNP	0.995	G
PRKG1	5592	genome.wustl.edu	37	10	54040671	54040671	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:54040671A>G	ENST00000401604.2	+	13	1675	c.1481A>G	c.(1480-1482)cAc>cGc	p.H494R	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.H212R|PRKG1_ENST00000373980.4_Missense_Mutation_p.H509R|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.H482R			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	494	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATCCTAGATCACCGAGGTTAT	0.388																																						dbGAP											0													121.0	104.0	110.0					10																	54040671		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1481A>G	10.37:g.54040671A>G	ENSP00000384200:p.His494Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom	p.H509R	ENST00000401604.2	37	c.1526	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723134	0.30503	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.64260	-0.09;-0.09;-0.09	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	N	0.10945	0.07	0.49582	D	0.999805	B;B;B	0.23128	0.0;0.015;0.08	B;B;B	0.33121	0.001;0.062;0.158	T	0.42430	-0.9452	10	0.30854	T	0.27	-16.6109	11.2598	0.49076	0.8472:0.1528:0.0:0.0	.	212;509;494	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	R	494;482;509;212;106	ENSP00000384200:H494R;ENSP00000363097:H482R;ENSP00000363092:H509R	ENSP00000327642:H212R	H	+	2	0	PRKG1	53710677	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.130000	0.64745	2.087000	0.62958	0.482000	0.46254	CAC	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,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	ENSG00000185532		0.388	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		208	0.00	0	A			54040671	54040671	+1	no_errors	ENST00000373980	ensembl	human	known	69_37n	missense	128	39.34	83	SNP	1.000	G
PRLHR	2834	genome.wustl.edu	37	10	120354131	120354131	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:120354131C>T	ENST00000369169.1	-	1	625	c.626G>A	c.(625-627)cGc>cAc	p.R209H	PRLHR_ENST00000239032.2_Missense_Mutation_p.R209H			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	209					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CTCGCAGAGGCGCACGTCGTG	0.697																																						dbGAP											0													10.0	10.0	10.0					10																	120354131		2183	4254	6437	-	-	-	SO:0001583	missense	0			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.626G>A	10.37:g.120354131C>T	ENSP00000358167:p.Arg209His	Somatic		WXS	Illumina GAIIx	Phase_IV	O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Prolrel_pep_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.R209H	ENST00000369169.1	37	c.626	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232783	0.09969	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.72282	-0.64;-0.64	4.62	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.432623	0.24737	N	0.036012	T	0.44371	0.1290	N	0.11818	0.18	0.27480	N	0.952597	B	0.10296	0.003	B	0.09377	0.004	T	0.18272	-1.0342	10	0.17369	T	0.5	.	5.5385	0.17026	0.0:0.467:0.2599:0.2732	.	209	P49683	PRLHR_HUMAN	H	209	ENSP00000239032:R209H;ENSP00000358167:R209H	ENSP00000239032:R209H	R	-	2	0	PRLHR	120344121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.687000	0.46976	0.579000	0.29504	0.655000	0.94253	CGC	PRLHR	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Prolrel_pep_rcpt	ENSG00000119973		0.697	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	9	0.00	0	C	NM_004248		120354131	120354131	-1	no_errors	ENST00000239032	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	T
PRMT5	10419	genome.wustl.edu	37	14	23393914	23393914	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:23393914A>G	ENST00000324366.8	-	9	1167	c.944T>C	c.(943-945)cTg>cCg	p.L315P	PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.L144P|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000553897.1_Missense_Mutation_p.L271P|PRMT5_ENST00000538452.1_Missense_Mutation_p.L209P|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.L298P|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.L254P	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	315	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATTGTCCATCAGTGGCTGATG	0.423																																						dbGAP											0													77.0	71.0	73.0					14																	23393914		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.944T>C	14.37:g.23393914A>G	ENSP00000319169:p.Leu315Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.L315P	ENST00000324366.8	37	c.944	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200628	0.79015	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	.	.	.	6.04	6.04	0.98038	.	0.141143	0.48286	D	0.000197	D	0.87641	0.6228	H	0.95884	3.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0	D	0.91320	0.5081	9	0.87932	D	0	-9.7756	15.5589	0.76223	1.0:0.0:0.0:0.0	.	271;254;144;315;298	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	P	315;298;144;254;209;271;58;210;67;161	.	ENSP00000216350:L254P	L	-	2	0	PRMT5	22463754	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.092000	0.89530	2.317000	0.78254	0.459000	0.35465	CTG	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.423	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	245	0.00	0	A			23393914	23393914	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	missense	143	32.86	70	SNP	1.000	G
PRPF8	10594	genome.wustl.edu	37	17	1579900	1579900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:1579900G>A	ENST00000572621.1	-	15	2552	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	PRPF8_ENST00000304992.6_Nonsense_Mutation_p.R763*			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	763					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTGGCCCCTCGGCGGATCCGT	0.562																																						dbGAP											0													203.0	212.0	209.0					17																	1579900		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2287C>T	17.37:g.1579900G>A	ENSP00000460348:p.Arg763*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14547|O75965	Nonsense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.R763*	ENST00000572621.1	37	c.2287	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.704435	0.98922	.	.	ENSG00000174231	ENST00000304992	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6675	18.8049	0.92032	0.0:0.0:1.0:0.0	.	.	.	.	X	763	.	ENSP00000304350:R763X	R	-	1	2	PRPF8	1526650	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	6.357000	0.73051	2.879000	0.98667	0.650000	0.86243	CGA	PRPF8	-	pfam_PROCN	ENSG00000174231		0.562	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	139	0.00	0	G			1579900	1579900	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	nonsense	110	33.33	55	SNP	0.997	A
PRR14L	253143	genome.wustl.edu	37	22	32110826	32110827	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:32110826_32110827insTC	ENST00000327423.6	-	4	3187_3188	c.2998_2999insGA	c.(2998-3000)actfs	p.T1000fs	PRR14L_ENST00000397493.2_Frame_Shift_Ins_p.T1000fs|PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Frame_Shift_Ins_p.T1000fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1000										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CTCGGTGACAGTCTCTCTCTGG	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2997_2998dupGA	22.37:g.32110833_32110834dupTC	ENSP00000331845:p.Thr1000fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Ins	INS	NULL	p.T1000fs	ENST00000327423.6	37	c.2999_2998	CCDS13900.2	22																																																																																			PRR14L	-	NULL	ENSG00000183530		0.475	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	359	0.00	0	-	NM_173566		32110826	32110827	-1	no_errors	ENST00000397493	ensembl	human	known	69_37n	frame_shift_ins	295	30.26	128	INS	0.000:0.000	TC
PRRG3	79057	genome.wustl.edu	37	X	150873773	150873773	+	3'UTR	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:150873773A>G	ENST00000370353.3	+	0	5354							Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTCCATCATTCGCCTCCA	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.*4268A>G	X.37:g.150873773A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A523|A1A575|Q8N2N6	Silent	SNP	NULL	p.S59	ENST00000370353.3	37	c.177	CCDS14699.1	X																																																																																			PRRG3	-	NULL	ENSG00000130032		0.408	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	134	0.00	0	A	NM_024082		150873773	150873773	+1	no_start_codon	ENST00000448324	ensembl	human	known	69_37n	silent	85	43.05	65	SNP	0.001	G
PRRX1	5396	genome.wustl.edu	37	1	170705372	170705372	+	3'UTR	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:170705372T>C	ENST00000239461.6	+	0	1096				PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAAAAACCATAAGACACCTA	0.378																																						dbGAP											0													34.0	34.0	34.0					1																	170705372		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.*45T>C	1.37:g.170705372T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BUM7|O60807	RNA	SNP	-	NULL	ENST00000239461.6	37	NULL	CCDS1290.1	1																																																																																			PRRX1	-	-	ENSG00000116132		0.378	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	87	0.00	0	T	NM_006902		170705372	170705372	+1	no_errors	ENST00000485529	ensembl	human	putative	69_37n	rna	152	23.12	46	SNP	0.989	C
PRSS3	5646	genome.wustl.edu	37	9	33797968	33797968	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:33797968C>A	ENST00000361005.5	+	3	513	c.513C>A	c.(511-513)tcC>tcA	p.S171S	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Silent_p.S128S|PRSS3_ENST00000429677.3_Silent_p.S107S|PRSS3_ENST00000379405.3_Silent_p.S114S	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCAAACTCTCCTCACCTGCCG	0.567																																						dbGAP											0													261.0	197.0	219.0					9																	33797968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.513C>A	9.37:g.33797968C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S171	ENST00000361005.5	37	c.513	CCDS47958.1	9																																																																																			PRSS3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000010438		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1	627	0.00	0	C	NM_002771		33797968	33797968	+1	no_errors	ENST00000361005	ensembl	human	known	69_37n	silent	412	31.17	187	SNP	0.017	A
PRSS36	146547	genome.wustl.edu	37	16	31160508	31160508	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:31160508G>A	ENST00000268281.4	-	4	216	c.158C>T	c.(157-159)gCg>gTg	p.A53V	PRSS36_ENST00000569305.1_Missense_Mutation_p.A53V|PRSS36_ENST00000418068.2_Missense_Mutation_p.A53V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	53	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCCGGCTGCGCGTTTGAGCC	0.706																																						dbGAP											0													10.0	11.0	11.0					16																	31160508		2167	4262	6429	-	-	-	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.158C>T	16.37:g.31160508G>A	ENSP00000268281:p.Ala53Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.A53V	ENST00000268281.4	37	c.158	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	g	27.5	4.834771	0.91036	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.83992	-1.79;-1.79	5.45	4.5	0.54988	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.87621	0.6223	M	0.70108	2.13	0.22873	N	0.998624	D;D;D	0.63046	0.992;0.986;0.986	P;P;P	0.56163	0.793;0.767;0.767	T	0.79725	-0.1683	9	0.62326	D	0.03	.	12.139	0.53986	0.0839:0.0:0.9161:0.0	.	53;53;53	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	V	53	ENSP00000268281:A53V;ENSP00000407160:A53V	ENSP00000268281:A53V	A	-	2	0	PRSS36	31068009	0.998000	0.40836	0.002000	0.10522	0.900000	0.52787	7.423000	0.80229	1.296000	0.44742	0.552000	0.68991	GCG	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000178226		0.706	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	14	0.00	0	G	NM_173502		31160508	31160508	-1	no_errors	ENST00000268281	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.264	A
PRTG	283659	genome.wustl.edu	37	15	55912892	55912892	+	Frame_Shift_Del	DEL	A	A	-	rs189224717		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:55912892delA	ENST00000389286.4	-	19	3214	c.3167delT	c.(3166-3168)ttcfs	p.F1056fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGAGTCTTGGAAAAAAAACCA	0.318																																						dbGAP											0													62.0	61.0	61.0					15																	55912892		1788	4052	5840	-	-	-	SO:0001589	frameshift_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3167delT	15.37:g.55912892delA	ENSP00000373937:p.Phe1056fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1056fs	ENST00000389286.4	37	c.3167	CCDS42040.1	15																																																																																			PRTG	-	NULL	ENSG00000166450		0.318	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	89	0.00	0	A	NM_173814		55912892	55912892	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	frame_shift_del	64	44.54	53	DEL	1.000	-
PSAPL1	768239	genome.wustl.edu	37	4	7435313	7435313	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:7435313G>A	ENST00000319098.4	-	1	1387	c.1294C>T	c.(1294-1296)Ctg>Ttg	p.L432L	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	432	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				lung(4)	4						ATATAGGGCAGCGGCAGGATG	0.577																																						dbGAP											0													26.0	30.0	29.0					4																	7435313		2153	4254	6407	-	-	-	SO:0001819	synonymous_variant	0			DQ991252	CCDS47009.1	4p16.1	2010-03-12	2010-03-12			ENSG00000178597			33131	protein-coding gene	gene with protein product			"""prosaposin-like 1"""				Standard	NM_001085382		Approved		uc011bwj.2	Q6NUJ1		ENST00000319098.4:c.1294C>T	4.37:g.7435313G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A184|Q8N7T4	Silent	SNP	pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin	p.L432	ENST00000319098.4	37	c.1294	CCDS47009.1	4																																																																																			PSAPL1	-	pirsf_Saposin_chordata,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB,prints_Saposin	ENSG00000178597		0.577	PSAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAPL1	HGNC	protein_coding	OTTHUMT00000358859.1	54	0.00	0	G			7435313	7435313	-1	no_errors	ENST00000319098	ensembl	human	known	69_37n	silent	33	41.38	24	SNP	0.001	A
PSD2	84249	genome.wustl.edu	37	5	139189067	139189067	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:139189067C>T	ENST00000274710.3	+	2	247	c.42C>T	c.(40-42)ggC>ggT	p.G14G		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	14					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGGAAGGCGATGCCACCC	0.647																																						dbGAP											0													18.0	21.0	20.0					5																	139189067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.42C>T	5.37:g.139189067C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQD3|Q8N3J8	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7	p.G14	ENST00000274710.3	37	c.42	CCDS4216.1	5																																																																																			PSD2	-	NULL	ENSG00000146005		0.647	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	15	0.00	0	C	NM_032289		139189067	139189067	+1	no_errors	ENST00000274710	ensembl	human	known	69_37n	silent	17	29.63	8	SNP	0.000	T
PSG6	5675	genome.wustl.edu	37	19	43414746	43414746	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:43414746G>A	ENST00000292125.2	-	3	736	c.692C>T	c.(691-693)aCc>aTc	p.T231I	PSG6_ENST00000402603.4_Missense_Mutation_p.T231I|PSG6_ENST00000187910.2_Missense_Mutation_p.T231I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	231	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GAGATTCAGGGTGACTGGGTC	0.527																																						dbGAP											0													147.0	158.0	154.0					19																	43414746		2200	4294	6494	-	-	-	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.692C>T	19.37:g.43414746G>A	ENSP00000292125:p.Thr231Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T231I	ENST00000292125.2	37	c.692	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	9.859	1.195890	0.22037	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.13307	2.6;2.6;2.6	1.63	-3.26	0.05064	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22322	0.0538	M	0.79011	2.435	0.09310	N	1	P;P;B	0.49635	0.926;0.627;0.289	P;P;B	0.52646	0.705;0.646;0.33	T	0.05801	-1.0863	9	0.46703	T	0.11	.	5.3885	0.16231	0.5597:0.0:0.4403:0.0	.	231;231;231	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	I	231	ENSP00000187910:T231I;ENSP00000385736:T231I;ENSP00000292125:T231I	ENSP00000187910:T231I	T	-	2	0	PSG6	48106586	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-0.281000	0.08456	-1.083000	0.03097	-1.128000	0.01989	ACC	PSG6	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000170848		0.527	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	299	0.00	0	G	NM_002782		43414746	43414746	-1	no_errors	ENST00000292125	ensembl	human	known	69_37n	missense	162	38.17	100	SNP	0.053	A
PSMC3	5702	genome.wustl.edu	37	11	47447428	47447428	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:47447428C>T	ENST00000298852.3	-	2	306	c.149G>A	c.(148-150)aGt>aAt	p.S50N	PSMC3_ENST00000602866.1_Missense_Mutation_p.S34N|PSMC3_ENST00000530912.1_Missense_Mutation_p.S50N	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGATCTCACTGTCCAGCAG	0.557																																						dbGAP											0													64.0	63.0	63.0					11																	47447428		2201	4298	6499	-	-	-	SO:0001583	missense	0			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.149G>A	11.37:g.47447428C>T	ENSP00000298852:p.Ser50Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.S50N	ENST00000298852.3	37	c.149	CCDS7935.1	11	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430740	0.25726	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D;D	0.94280	-3.3;-3.39	5.38	5.38	0.77491	.	0.072998	0.85682	D	0.000000	T	0.73705	0.3621	N	0.00107	-2.115	0.54753	D	0.999989	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.77233	-0.2663	10	0.02654	T	1	-17.7701	18.7411	0.91773	0.0:1.0:0.0:0.0	.	50;50	E9PM69;P17980	.;PRS6A_HUMAN	N	50;50;15;15;15;15;15;58;34;34	ENSP00000298852:S50N;ENSP00000433097:S50N	ENSP00000298852:S50N	S	-	2	0	PSMC3	47404004	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.604000	0.67626	2.526000	0.85167	0.462000	0.41574	AGT	PSMC3	-	NULL	ENSG00000165916		0.557	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMC3	HGNC	protein_coding	OTTHUMT00000395660.2	52	0.00	0	C	NM_002804		47447428	47447428	-1	no_errors	ENST00000298852	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	T
PSMC5	5705	genome.wustl.edu	37	17	61908445	61908448	+	Frame_Shift_Del	DEL	ATCT	ATCT	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	ATCT	ATCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:61908445_61908448delATCT	ENST00000310144.6	+	8	1037_1040	c.729_732delATCT	c.(727-732)ccatctfs	p.PS243fs	PSMC5_ENST00000375812.4_Frame_Shift_Del_p.PS235fs|PSMC5_ENST00000581882.1_Frame_Shift_Del_p.PS235fs|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Frame_Shift_Del_p.PS235fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	243	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AACATGCTCCATCTATCATCTTCA	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.729_732delATCT	17.37:g.61908445_61908448delATCT	ENSP00000310572:p.Pro243fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.I245fs	ENST00000310144.6	37	c.729_732	CCDS11645.1	17																																																																																			PSMC5	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000087191		0.559	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	HGNC	protein_coding	OTTHUMT00000444404.1	154	0.00	0	ATCT	NM_002805		61908445	61908448	+1	no_errors	ENST00000310144	ensembl	human	known	69_37n	frame_shift_del	228	20.62	60	DEL	0.023:0.997:1.000:0.935	-
PSME4	23198	genome.wustl.edu	37	2	54154539	54154539	+	Missense_Mutation	SNP	G	G	T	rs149866201		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:54154539G>T	ENST00000404125.1	-	12	1640	c.1585C>A	c.(1585-1587)Ctc>Atc	p.L529I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	529					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTTCTGTGAGGTCATTTCTT	0.348																																						dbGAP											0													123.0	128.0	126.0					2																	54154539		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1585C>A	2.37:g.54154539G>T	ENSP00000384211:p.Leu529Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.L529I	ENST00000404125.1	37	c.1585	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259445	0.59321	.	.	ENSG00000068878	ENST00000404125	T	0.05513	3.43	5.83	4.95	0.65309	.	0.063959	0.64402	D	0.000009	T	0.11580	0.0282	M	0.70275	2.135	0.80722	D	1	B	0.30870	0.298	B	0.33799	0.17	T	0.03017	-1.1082	10	0.34782	T	0.22	.	14.9258	0.70878	0.0685:0.0:0.9315:0.0	.	529	Q14997	PSME4_HUMAN	I	529	ENSP00000384211:L529I	ENSP00000374643:L529I	L	-	1	0	PSME4	54008043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.167000	0.64972	1.468000	0.48064	0.655000	0.94253	CTC	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	294	0.00	0	G	XM_040158		54154539	54154539	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	missense	209	31.48	96	SNP	1.000	T
PSPC1	55269	genome.wustl.edu	37	13	20279944	20279944	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:20279944T>C	ENST00000338910.4	-	8	1403	c.1244A>G	c.(1243-1245)aAc>aGc	p.N415S		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	415	Gly-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AGGACCTTGGTTACCAGCAGG	0.433																																						dbGAP											0													105.0	112.0	110.0					13																	20279944		1876	4115	5991	-	-	-	SO:0001583	missense	0			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.1244A>G	13.37:g.20279944T>C	ENSP00000343966:p.Asn415Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.N415S	ENST00000338910.4	37	c.1244	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	T	8.166	0.790523	0.16258	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14640	2.49	5.29	4.09	0.47781	.	0.092103	0.64402	D	0.000001	T	0.09818	0.0241	L	0.34521	1.04	0.33640	D	0.607101	B	0.23591	0.088	B	0.21917	0.037	T	0.16630	-1.0396	10	0.08179	T	0.78	-5.6869	11.8273	0.52275	0.0:0.0:0.4429:0.5571	.	415	Q8WXF1	PSPC1_HUMAN	S	415;355	ENSP00000343966:N415S	ENSP00000343966:N415S	N	-	2	0	PSPC1	19177944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.633000	0.37113	0.830000	0.34757	0.402000	0.26972	AAC	PSPC1	-	NULL	ENSG00000121390		0.433	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	563	0.18	1	T			20279944	20279944	-1	no_errors	ENST00000338910	ensembl	human	known	69_37n	missense	487	19.24	116	SNP	1.000	C
PSTPIP2	9050	genome.wustl.edu	37	18	43571950	43571950	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:43571950C>T	ENST00000409746.5	-	12	910		c.e12-1		PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Splice_Site|RN7SKP26_ENST00000410247.1_RNA	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2							cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						ATGATGGGTGCTAGGAGAGTC	0.448																																						dbGAP											0													91.0	88.0	89.0					18																	43571950		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.839-1G>A	18.37:g.43571950C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e12-1	ENST00000409746.5	37	c.839-1	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777062	0.70107	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7513	0.85487	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PSTPIP2	41825948	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.160000	0.58164	2.759000	0.94783	0.644000	0.83932	.	PSTPIP2	-	-	ENSG00000152229		0.448	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1	343	0.58	2	C		Intron	43571950	43571950	-1	no_errors	ENST00000409746	ensembl	human	known	69_37n	splice_site	236	35.95	133	SNP	1.000	T
PTGDS	5730	genome.wustl.edu	37	9	139874487	139874487	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139874487G>A	ENST00000371625.3	+	4	495	c.421G>A	c.(421-423)Gag>Aag	p.E141K	PTGDS_ENST00000224167.2_Missense_Mutation_p.E175K|LCNL1_ENST00000408973.2_5'Flank	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	141					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGCCCTGGCGAGGACTTCCG	0.677																																						dbGAP											0													71.0	75.0	73.0					9																	139874487		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.421G>A	9.37:g.139874487G>A	ENSP00000360687:p.Glu141Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	p.E175K	ENST00000371625.3	37	c.523	CCDS7019.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.19|16.19	3.052702|3.052702	0.55218|0.55218	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625|ENST00000446677	T;T;T|.	0.06068|.	3.35;3.35;3.35|.	5.0|5.0	0.486|0.486	0.16836|0.16836	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	1.335270|.	0.05217|.	N|.	0.507804|.	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.16656|0.16656	0.425|0.425	0.09310|0.09310	N|N	1|1	P|.	0.36753|.	0.568|.	B|.	0.30943|.	0.122|.	T|T	0.27297|0.27297	-1.0078|-1.0078	10|5	0.15952|.	T|.	0.53|.	-29.6864|-29.6864	6.3701|6.3701	0.21477|0.21477	0.3394:0.3373:0.3233:0.0|0.3394:0.3373:0.3233:0.0	.|.	141|.	P41222|.	PTGDS_HUMAN|.	K|Q	175;175;141|163	ENSP00000224167:E175K;ENSP00000392633:E175K;ENSP00000360687:E141K|.	ENSP00000224167:E175K|.	E|R	+|+	1|2	0|0	PTGDS|PTGDS	138994308|138994308	0.000000|0.000000	0.05858|0.05858	0.409000|0.409000	0.26459|0.26459	0.214000|0.214000	0.24535|0.24535	0.117000|0.117000	0.15583|0.15583	0.461000|0.461000	0.27071|0.27071	-0.319000|-0.319000	0.08680|0.08680	GAG|CGA	PTGDS	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000107317		0.677	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	57	0.00	0	G	NM_000954		139874487	139874487	+1	no_errors	ENST00000224167	ensembl	human	known	69_37n	missense	18	48.57	17	SNP	0.015	A
PTGDS	5730	genome.wustl.edu	37	9	139875171	139875172	+	Intron	INS	-	-	T	rs145567521	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139875171_139875172insT	ENST00000371625.3	+	6	624				PTGDS_ENST00000224167.2_Intron|LCNL1_ENST00000408973.2_5'Flank	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GATCTGTGCAGTTTGGGGGCTC	0.584																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.551-113->T	9.37:g.139875174_139875174dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Frame_Shift_Ins	INS	NULL	p.W25fs	ENST00000371625.3	37	c.70_71	CCDS7019.1	9																																																																																			PTGDS	-	NULL	ENSG00000107317		0.584	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	114	0.00	0	-	NM_000954		139875171	139875172	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000444903	ensembl	human	known	69_37n	frame_shift_ins	69	34.91	37	INS	0.000:0.000	T
PTK2B	2185	genome.wustl.edu	37	8	27296898	27296898	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:27296898G>T	ENST00000397501.1	+	25	2625	c.1817G>T	c.(1816-1818)aGt>aTt	p.S606I	PTK2B_ENST00000346049.5_Missense_Mutation_p.S606I|PTK2B_ENST00000397497.4_Missense_Mutation_p.S352I|PTK2B_ENST00000544172.1_Missense_Mutation_p.S606I|PTK2B_ENST00000338238.4_Missense_Mutation_p.S606I|PTK2B_ENST00000420218.2_Missense_Mutation_p.S606I|PTK2B_ENST00000517339.1_Missense_Mutation_p.S606I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.S606N(2)|p.S352N(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	ACGACAGCCAGTGACGTCTGG	0.527																																						dbGAP											3	Substitution - Missense(3)	kidney(3)											87.0	79.0	82.0					8																	27296898		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1817G>T	8.37:g.27296898G>T	ENSP00000380638:p.Ser606Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S606I	ENST00000397501.1	37	c.1817	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471434	0.84533	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96026	0.9013	10	0.87932	D	0	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	352;606;606	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	I	606;611;606;606;606;606;606;352	ENSP00000380638:S606I;ENSP00000342242:S606I;ENSP00000440926:S606I;ENSP00000332816:S606I;ENSP00000391995:S606I;ENSP00000427931:S606I;ENSP00000380634:S352I	ENSP00000342242:S606I	S	+	2	0	PTK2B	27352815	1.000000	0.71417	0.994000	0.49952	0.526000	0.34562	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	AGT	PTK2B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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	ENSG00000120899		0.527	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	131	0.00	0	G	NM_004103		27296898	27296898	+1	no_errors	ENST00000346049	ensembl	human	known	69_37n	missense	84	43.24	64	SNP	1.000	T
PTPN21	11099	genome.wustl.edu	37	14	88935948	88935948	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:88935948G>T	ENST00000556564.1	-	17	3414	c.3130C>A	c.(3130-3132)Ctg>Atg	p.L1044M	PTPN21_ENST00000328736.3_Missense_Mutation_p.L1044M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1044	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCATCTTCAGGCCTGTGGTG	0.552																																						dbGAP											0													129.0	112.0	118.0					14																	88935948		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3130C>A	14.37:g.88935948G>T	ENSP00000452414:p.Leu1044Met	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.L1044M	ENST00000556564.1	37	c.3130	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475231	0.63737	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000553531	T;T;T	0.20463	2.07;2.07;2.07	5.56	-5.02	0.02982	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000002	T	0.35595	0.0937	M	0.66506	2.035	0.32861	D	0.507999	D	0.89917	1.0	D	0.97110	1.0	T	0.29397	-1.0013	10	0.33141	T	0.24	.	12.6142	0.56567	0.5772:0.0:0.4228:0.0	.	1044	Q16825	PTN21_HUMAN	M	1044;1044;5	ENSP00000330276:L1044M;ENSP00000452414:L1044M;ENSP00000450847:L5M	ENSP00000330276:L1044M	L	-	1	2	PTPN21	88005701	0.950000	0.32346	0.662000	0.29724	0.798000	0.45092	0.576000	0.23744	-1.186000	0.02713	-0.459000	0.05422	CTG	PTPN21	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000070778		0.552	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	322	0.31	1	G			88935948	88935948	-1	no_errors	ENST00000328736	ensembl	human	known	69_37n	missense	201	38.53	126	SNP	0.990	T
PTPN21	11099	genome.wustl.edu	37	14	88945437	88945437	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:88945437T>C	ENST00000556564.1	-	13	2622	c.2338A>G	c.(2338-2340)Acc>Gcc	p.T780A	PTPN21_ENST00000328736.3_Missense_Mutation_p.T780A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	780					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCTCTGCGGTCGTGCGGACG	0.706																																						dbGAP											0													38.0	36.0	37.0					14																	88945437		2203	4298	6501	-	-	-	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2338A>G	14.37:g.88945437T>C	ENSP00000452414:p.Thr780Ala	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.T780A	ENST00000556564.1	37	c.2338	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	T	8.029	0.761305	0.15914	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71341	-0.56;-0.56	4.88	-0.949	0.10376	.	1.216660	0.05809	N	0.613635	T	0.46405	0.1391	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	10	0.22706	T	0.39	.	5.3359	0.15957	0.0998:0.1081:0.5546:0.2375	.	780	Q16825	PTN21_HUMAN	A	780	ENSP00000330276:T780A;ENSP00000452414:T780A	ENSP00000330276:T780A	T	-	1	0	PTPN21	88015190	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.235000	0.09016	-0.457000	0.07033	0.260000	0.18958	ACC	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.706	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	29	0.00	0	T			88945437	88945437	-1	no_errors	ENST00000328736	ensembl	human	known	69_37n	missense	12	55.56	15	SNP	0.000	C
PTPRD	5789	genome.wustl.edu	37	9	8507409	8507409	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:8507409T>C	ENST00000381196.4	-	19	2112	c.1569A>G	c.(1567-1569)aaA>aaG	p.K523K	PTPRD_ENST00000540109.1_Silent_p.K523K|PTPRD_ENST00000356435.5_Silent_p.K523K|PTPRD_ENST00000397606.3_Silent_p.K513K|PTPRD_ENST00000397611.3_Silent_p.K520K|PTPRD_ENST00000537002.1_Silent_p.K520K|PTPRD_ENST00000397617.3_Silent_p.K513K|PTPRD_ENST00000360074.4_Silent_p.K510K|PTPRD_ENST00000358503.5_Silent_p.K510K|PTPRD_ENST00000355233.5_Silent_p.K523K|PTPRD_ENST00000486161.1_Silent_p.K523K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	523	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGGTTCTGCTTTGAAGTTTA	0.443										TSP Lung(15;0.13)																												dbGAP											0													188.0	175.0	179.0					9																	8507409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1569A>G	9.37:g.8507409T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.K523	ENST00000381196.4	37	c.1569	CCDS43786.1	9																																																																																			PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.443	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	473	0.00	0	T			8507409	8507409	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	silent	340	37.66	206	SNP	1.000	C
PTPRE	5791	genome.wustl.edu	37	10	129866447	129866447	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:129866447C>T	ENST00000254667.3	+	12	1183	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.P302S|PTPRE_ENST00000306042.5_Missense_Mutation_p.P244S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	302	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	CACCAGCTGGCCCGACTTCGG	0.612																																					Colon(52;977 1184 20575 41685)	dbGAP											0													55.0	54.0	54.0					10																	129866447		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.904C>T	10.37:g.129866447C>T	ENSP00000254667:p.Pro302Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P302S	ENST00000254667.3	37	c.904	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798043	0.90538	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.19394	2.15;2.15;2.15	3.88	3.88	0.44766	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;1.0;1.0	T	0.69258	-0.5192	10	0.87932	D	0	.	16.4722	0.84114	0.0:1.0:0.0:0.0	.	280;302;244;302	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	S	302;280;302;244	ENSP00000254667:P302S;ENSP00000402337:P302S;ENSP00000303350:P244S	ENSP00000254667:P302S	P	+	1	0	PTPRE	129756437	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.511000	0.81718	2.168000	0.68352	0.558000	0.71614	CCC	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.612	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	64	0.00	0	C			129866447	129866447	+1	no_errors	ENST00000254667	ensembl	human	known	69_37n	missense	30	39.22	20	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29609285	29609285	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:29609285G>A	ENST00000345512.3	+	12	2095	c.1966G>A	c.(1966-1968)Gcg>Acg	p.A656T	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.A656T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A656T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A656T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A656T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A656T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	656	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTCGAGGCGGCGCTGGCCCG	0.662																																						dbGAP											0													66.0	62.0	63.0					1																	29609285		2203	4299	6502	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1966G>A	1.37:g.29609285G>A	ENSP00000334941:p.Ala656Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A656T	ENST00000345512.3	37	c.1966	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.273025	0.95429	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35605	1.33;1.36;1.36;1.36;1.3;1.36	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.52905	1.665	0.58432	D	0.999999	P;P;P;P;P	0.51449	0.945;0.754;0.945;0.64;0.836	P;B;P;B;B	0.52909	0.713;0.324;0.713;0.173;0.173	T	0.32402	-0.9908	9	.	.	.	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	656;656;656;656;656	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	656	ENSP00000334941:A656T;ENSP00000362884:A656T;ENSP00000349333:A656T;ENSP00000314987:A656T;ENSP00000392332:A656T;ENSP00000432906:A656T	.	A	+	1	0	PTPRU	29481872	1.000000	0.71417	0.938000	0.37757	0.782000	0.44232	9.855000	0.99526	2.598000	0.87819	0.549000	0.68633	GCG	PTPRU	-	NULL	ENSG00000060656		0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	61	0.00	0	G			29609285	29609285	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	53	39.77	35	SNP	1.000	A
PUM2	23369	genome.wustl.edu	37	2	20463032	20463032	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:20463032T>C	ENST00000361078.2	-	13	2169	c.2147A>G	c.(2146-2148)aAc>aGc	p.N716S	PUM2_ENST00000536417.1_Missense_Mutation_p.N660S|PUM2_ENST00000338086.5_Missense_Mutation_p.N716S|PUM2_ENST00000319801.5_Missense_Mutation_p.N637S|PUM2_ENST00000403432.1_Missense_Mutation_p.N716S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	716	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCGGTTGTTTCTGAAATC	0.433																																						dbGAP											0													67.0	69.0	68.0					2																	20463032		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2147A>G	2.37:g.20463032T>C	ENSP00000354370:p.Asn716Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.N716S	ENST00000361078.2	37	c.2147		2	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149673	0.57151	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.41236	1.265	0.80722	D	1	B;B;B;D	0.60160	0.003;0.078;0.127;0.987	B;B;B;P	0.56788	0.006;0.063;0.133;0.806	T	0.01068	-1.1462	10	0.27785	T	0.31	-7.0715	15.9781	0.80086	0.0:0.0:0.0:1.0	.	660;637;716;716	B4E2B6;B7ZL34;Q8TB72-3;Q8TB72	.;.;.;PUM2_HUMAN	S	716;716;637;528;716;660	ENSP00000338173:N716S;ENSP00000354370:N716S;ENSP00000326746:N637S;ENSP00000409905:N528S;ENSP00000385992:N716S;ENSP00000440093:N660S	ENSP00000326746:N637S	N	-	2	0	PUM2	20326513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.171000	0.68590	0.533000	0.62120	AAC	PUM2	-	superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt	ENSG00000055917		0.433	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		174	0.00	0	T	NM_015317		20463032	20463032	-1	no_errors	ENST00000361078	ensembl	human	known	69_37n	missense	118	39.18	76	SNP	1.000	C
PVR	5817	genome.wustl.edu	37	19	45150758	45150758	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:45150758G>A	ENST00000425690.3	+	2	642	c.343G>A	c.(343-345)Gta>Ata	p.V115I	PVR_ENST00000406449.4_Missense_Mutation_p.V115I|PVR_ENST00000403059.4_Missense_Mutation_p.V115I|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.V115I	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	115	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CGGGTTGCGCGTAGAGGATGA	0.617																																						dbGAP											0													60.0	53.0	55.0					19																	45150758		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.343G>A	19.37:g.45150758G>A	ENSP00000402060:p.Val115Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V115I	ENST00000425690.3	37	c.343	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505413	0.26949	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.63	2.3	0.28687	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	1.014540	0.07933	N	0.977856	T	0.59770	0.2218	L	0.39397	1.21	0.09310	N	1	B;B;P;B	0.35155	0.081;0.411;0.487;0.29	B;B;B;B	0.39152	0.015;0.292;0.163;0.252	T	0.50874	-0.8776	10	0.49607	T	0.09	.	7.1873	0.25806	0.0:0.1896:0.6146:0.1959	.	115;115;115;115	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	I	115	ENSP00000340870:V115I;ENSP00000402060:V115I;ENSP00000383907:V115I;ENSP00000385344:V115I	ENSP00000340870:V115I	V	+	1	0	PVR	49842598	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.107000	0.10873	0.306000	0.22856	0.471000	0.43371	GTA	PVR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000073008		0.617	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	73	0.00	0	G	NM_006505		45150758	45150758	+1	no_errors	ENST00000425690	ensembl	human	known	69_37n	missense	54	34.94	29	SNP	0.000	A
PVRL2	5819	genome.wustl.edu	37	19	45381809	45381809	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:45381809G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Missense_Mutation_p.A458T	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCACCCCCAGCACTCGAGGA	0.597																																						dbGAP											0													64.0	54.0	58.0					19																	45381809		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3659G>A	19.37:g.45381809G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Splice_Site	SNP	-	e4-1	ENST00000252483.5	37	c.565-1	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	G	6.611	0.481218	0.12581	.	.	ENSG00000130202	ENST00000252485	T	0.64991	-0.13	5.91	2.48	0.30137	.	.	.	.	.	T	0.45836	0.1362	N	0.22421	0.69	0.09310	N	1	B	0.33583	0.418	B	0.30855	0.121	T	0.13522	-1.0506	9	0.24483	T	0.36	.	13.0788	0.59100	0.0:0.0:0.4293:0.5707	.	458	Q92692-2	.	T	458	ENSP00000252485:A458T	ENSP00000252485:A458T	A	+	1	0	PVRL2	50073649	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.137000	0.15995	0.338000	0.23692	0.655000	0.94253	GCA	PVRL2	-	-	ENSG00000130202		0.597	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	52	0.00	0	G	NM_002856		45381809	45381809	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591581	ensembl	human	novel	69_37n	splice_site	45	28.57	18	SNP	0.000	A
PYGB	5834	genome.wustl.edu	37	20	25277269	25277269	+	3'UTR	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:25277269A>G	ENST00000216962.4	+	0	2753				PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTTCTGAGTACCATGTTTCC	0.522																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.*111A>G	20.37:g.25277269A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96AK1|Q9NPX8	RNA	SNP	-	NULL	ENST00000216962.4	37	NULL	CCDS13171.1	20																																																																																			PYGB	-	-	ENSG00000100994		0.522	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	14	0.00	0	A	NM_002862		25277269	25277269	+1	no_errors	ENST00000471359	ensembl	human	known	69_37n	rna	7	46.15	6	SNP	0.000	G
PYGO2	90780	genome.wustl.edu	37	1	154931988	154931988	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154931988G>A	ENST00000368457.2	-	3	659	c.488C>T	c.(487-489)cCc>cTc	p.P163L	PYGO2_ENST00000483463.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Missense_Mutation_p.P126L	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	163	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGTTGGCTGGGAAAGTTCAT	0.612																																					NSCLC(87;357 1460 1955 21029 23522)	dbGAP											0													64.0	69.0	67.0					1																	154931988		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.488C>T	1.37:g.154931988G>A	ENSP00000357442:p.Pro163Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WYZ4|Q96CY2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P163L	ENST00000368457.2	37	c.488	CCDS1075.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376714	0.61735	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.51071	0.72;0.73	4.76	4.76	0.60689	.	0.486350	0.19286	N	0.118022	T	0.19967	0.0480	N	0.14661	0.345	0.58432	D	0.999996	B	0.14805	0.011	B	0.08055	0.003	T	0.03354	-1.1045	10	0.41790	T	0.15	-1.1663	16.7031	0.85364	0.0:0.0:1.0:0.0	.	163	Q9BRQ0	PYGO2_HUMAN	L	163;126	ENSP00000357442:P163L;ENSP00000357441:P126L	ENSP00000357441:P126L	P	-	2	0	PYGO2	153198612	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.567000	0.36407	2.469000	0.83416	0.462000	0.41574	CCC	PYGO2	-	NULL	ENSG00000163348		0.612	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	HGNC	protein_coding	OTTHUMT00000090949.1	128	0.00	0	G	NM_138300		154931988	154931988	-1	no_errors	ENST00000368457	ensembl	human	known	69_37n	missense	299	16.71	60	SNP	1.000	A
PZP	5858	genome.wustl.edu	37	12	9321278	9321278	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:9321278delA	ENST00000261336.2	-	17	2136				PZP_ENST00000381997.2_Intron|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein						female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGATGTATCTAAAAAAAAATC	0.338																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2107+186T>-	12.37:g.9321278delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND27|Q15273|Q2NKL2|Q7M4N7	RNA	DEL	-	NULL	ENST00000261336.2	37	NULL	CCDS8600.1	12																																																																																			PZP	-	-	ENSG00000126838		0.338	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	19	0.00	0	A	NM_002864		9321278	9321278	-1	no_errors	ENST00000546116	ensembl	human	known	69_37n	rna	7	50.00	9	DEL	0.000	-
QSOX1	5768	genome.wustl.edu	37	1	180153145	180153145	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:180153145G>A	ENST00000367602.3	+	7	921	c.847G>A	c.(847-849)Gct>Act	p.A283T	QSOX1_ENST00000367600.5_Missense_Mutation_p.A283T			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	283					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCAACCACTGCTAACAAGAT	0.537																																						dbGAP											0													204.0	182.0	190.0					1																	180153145		2203	4300	6503	-	-	-	SO:0001583	missense	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.847G>A	1.37:g.180153145G>A	ENSP00000356574:p.Ala283Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.A283T	ENST00000367602.3	37	c.847	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060008	0.19987	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.17054	3.67;2.3	5.5	-7.24	0.01475	.	1.293120	0.04628	N	0.403164	T	0.05914	0.0154	N	0.11560	0.145	0.09310	N	1	B;B;B	0.17465	0.013;0.01;0.022	B;B;B	0.13407	0.004;0.009;0.009	T	0.30995	-0.9959	10	0.15499	T	0.54	0.1579	0.9675	0.01409	0.1935:0.2942:0.2129:0.2993	.	283;283;283	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	T	283	ENSP00000356574:A283T;ENSP00000356572:A283T	ENSP00000356572:A283T	A	+	1	0	QSOX1	178419768	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.601000	0.00892	-1.220000	0.02594	0.655000	0.94253	GCT	QSOX1	-	NULL	ENSG00000116260		0.537	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	231	0.43	1	G	NM_002826		180153145	180153145	+1	no_errors	ENST00000367602	ensembl	human	known	69_37n	missense	482	15.68	90	SNP	0.000	A
RAB11A	8766	genome.wustl.edu	37	15	66170177	66170177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:66170177G>A	ENST00000261890.2	+	3	442	c.314G>A	c.(313-315)tGg>tAg	p.W105*	RAB11A_ENST00000435304.2_Nonsense_Mutation_p.W105*|RAB11A_ENST00000564910.1_Nonsense_Mutation_p.W35*|RAB11A_ENST00000565075.1_Nonsense_Mutation_p.W105*|RAB11A_ENST00000569896.1_Nonsense_Mutation_p.W105*	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	105					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						GTAGAGCGATGGCTGAAAGAA	0.383																																						dbGAP											0													212.0	183.0	192.0					15																	66170177		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.314G>A	15.37:g.66170177G>A	ENSP00000261890:p.Trp105*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W105*	ENST00000261890.2	37	c.314	CCDS10212.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682833	0.88542	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.59	0.95506	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000261890:W105X	W	+	2	0	RAB11A	63957231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.639000	0.89480	0.655000	0.94253	TGG	RAB11A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000103769		0.383	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	HGNC	protein_coding	OTTHUMT00000256864.1	312	0.00	0	G			66170177	66170177	+1	no_errors	ENST00000261890	ensembl	human	known	69_37n	nonsense	211	35.87	118	SNP	1.000	A
RAB40C	57799	genome.wustl.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:677579_677580insC	ENST00000248139.3	+	6	1006_1007	c.803_804insC	c.(802-807)agccccfs	p.SP268fs	RAB40C_ENST00000535977.1_Frame_Shift_Ins_p.SP268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.SP268fs|RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.SP268fs	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678																																					Melanoma(123;1631 1690 28262 44104 44957)	dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.811dupC	16.37:g.677587_677587dupC	ENSP00000248139:p.Ser268fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom	p.Q271fs	ENST00000248139.3	37	c.803_804	CCDS10413.1	16																																																																																			RAB40C	-	NULL	ENSG00000197562		0.678	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4	181	0.55	1	-	NM_021168		677579	677580	+1	no_errors	ENST00000248139	ensembl	human	known	69_37n	frame_shift_ins	101	33.11	50	INS	1.000:1.000	C
RABGGTB	5876	genome.wustl.edu	37	1	76256965	76256965	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:76256965T>C	ENST00000319942.3	+	5	486				RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000496055.1_Intron|SNORD45B_ENST00000364617.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CTATTTTTATTGTAGGAGAAA	0.328																																						dbGAP											0													142.0	140.0	140.0					1																	76256965		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.416-5T>C	1.37:g.76256965T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92697	RNA	SNP	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-	ENSG00000137955		0.328	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	549	0.00	0	T	NM_004582		76256965	76256965	+1	no_errors	ENST00000467748	ensembl	human	known	69_37n	rna	371	39.87	246	SNP	0.141	C
RABL6	55684	genome.wustl.edu	37	9	139720235	139720235	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139720235G>A	ENST00000311502.7	+	3	506	c.270G>A	c.(268-270)acG>acA	p.T90T	RABL6_ENST00000371675.3_5'UTR|RABL6_ENST00000432842.2_Silent_p.T52T|RABL6_ENST00000371671.4_Silent_p.T90T|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000357466.2_Silent_p.T90T|RABL6_ENST00000371663.4_Silent_p.T90T			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	90	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TTTCAGCCACGGATGACATCG	0.537																																						dbGAP											0													319.0	335.0	330.0					9																	139720235		2104	4229	6333	-	-	-	SO:0001819	synonymous_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.270G>A	9.37:g.139720235G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	pfam_Small_GTPase	p.G1R	ENST00000311502.7	37	c.1	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487171	0.26686	.	.	ENSG00000196642	ENST00000436380;ENST00000425121	.	.	.	4.77	-2.29	0.06805	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28170	-1.0052	4	.	.	.	-12.9572	1.81	0.03088	0.2405:0.0777:0.2934:0.3884	.	.	.	.	R	47;1	.	.	G	+	1	0	C9orf86	138840056	0.558000	0.26554	0.874000	0.34290	0.991000	0.79684	-0.420000	0.07062	-0.456000	0.07043	0.505000	0.49811	GGA	RABL6	-	NULL	ENSG00000196642		0.537	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	675	0.15	1	G	NM_024718		139720235	139720235	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000425121	ensembl	human	known	69_37n	missense	373	40.38	254	SNP	0.960	A
RALGAPA2	57186	genome.wustl.edu	37	20	20553666	20553666	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:20553666delC	ENST00000202677.7	-	21	2761	c.2754delG	c.(2752-2754)gggfs	p.G918fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	918					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGTGAGGCTCCCCCCGGCGA	0.488																																						dbGAP											0													45.0	46.0	45.0					20																	20553666		1921	4118	6039	-	-	-	SO:0001589	frameshift_variant	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2754delG	20.37:g.20553666delC	ENSP00000202677:p.Gly918fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Frame_Shift_Del	DEL	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.S919fs	ENST00000202677.7	37	c.2754	CCDS46584.1	20																																																																																			RALGAPA2	-	NULL	ENSG00000188559		0.488	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	131	0.75	1	C	NM_020343		20553666	20553666	-1	no_errors	ENST00000202677	ensembl	human	known	69_37n	frame_shift_del	125	35.20	69	DEL	0.998	-
RALGDS	5900	genome.wustl.edu	37	9	135976891	135976892	+	Intron	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:135976891_135976892insC	ENST00000372050.3	-	16	2476				RALGDS_ENST00000393157.3_Intron|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000372062.3_Intron|RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393160.3_Intron	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CACCCAGGCCACCCCCGCCGGC	0.624			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	dbGAP		Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0																																										-	-	-	SO:0001627	intron_variant	0			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2454+14->G	9.37:g.135976896_135976896dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	RNA	INS	-	NULL	ENST00000372050.3	37	NULL	CCDS6959.1	9																																																																																			RALGDS	-	-	ENSG00000160271		0.624	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	62	0.00	0	-	NM_006266		135976891	135976892	-1	no_errors	ENST00000469972	ensembl	human	known	69_37n	rna	47	29.85	20	INS	0.000:0.000	C
RAPGEF2	9693	genome.wustl.edu	37	4	160252651	160252651	+	Silent	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:160252651T>A	ENST00000264431.4	+	8	1472	c.1053T>A	c.(1051-1053)acT>acA	p.T351T		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	351	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGCAATGACTCGATTTTTAG	0.313																																						dbGAP											0													66.0	63.0	64.0					4																	160252651		1816	4081	5897	-	-	-	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1053T>A	4.37:g.160252651T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T351	ENST00000264431.4	37	c.1053	CCDS43277.1	4																																																																																			RAPGEF2	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000109756		0.313	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	174	0.00	0	T	NM_014247		160252651	160252651	+1	no_errors	ENST00000264431	ensembl	human	known	69_37n	silent	125	28.98	51	SNP	1.000	A
RASAL2	9462	genome.wustl.edu	37	1	178252826	178252826	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:178252826G>T	ENST00000367649.3	+	2	682	c.330G>T	c.(328-330)gaG>gaT	p.E110D	RASAL2_ENST00000448150.3_Splice_Site_p.E92D|RASAL2_ENST00000465723.1_3'UTR			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGGAGAAGGAGGTGAGATGGA	0.398																																						dbGAP											0													162.0	140.0	148.0					1																	178252826		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.330+1G>T	1.37:g.178252826G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E110D	ENST00000367649.3	37	c.330	CCDS1321.2	1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852003	0.71719	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.25912	1.77;1.77	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	L	0.47716	1.5	0.80722	D	1	D	0.61697	0.99	D	0.70935	0.971	T	0.35599	-0.9782	10	0.66056	D	0.02	.	19.0508	0.93043	0.0:0.0:1.0:0.0	.	110	F8W755	.	D	92;110	ENSP00000407768:E92D;ENSP00000356621:E110D	ENSP00000356621:E110D	E	+	3	2	RASAL2	176519449	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	8.509000	0.90529	2.669000	0.90835	0.591000	0.81541	GAG	RASAL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000075391		0.398	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000352415.1	257	0.00	0	G	NM_170692	Missense_Mutation	178252826	178252826	+1	no_errors	ENST00000367649	ensembl	human	known	69_37n	missense	520	16.77	105	SNP	1.000	T
RASGRP4	115727	genome.wustl.edu	37	19	38901820	38901820	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:38901820G>C	ENST00000587738.1	-	15	1857	c.1787C>G	c.(1786-1788)gCc>gGc	p.A596G	RASGRP4_ENST00000433821.2_Missense_Mutation_p.A504G|RASGRP4_ENST00000587753.1_Missense_Mutation_p.A527G|RASGRP4_ENST00000293062.9_Missense_Mutation_p.A499G|RASGRP4_ENST00000586305.1_Missense_Mutation_p.A582G|RASGRP4_ENST00000454404.2_Missense_Mutation_p.A562G|RASGRP4_ENST00000426920.2_Missense_Mutation_p.A407G			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	596					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCGCCCTTGGCCCCTGGCCT	0.632																																						dbGAP											0													72.0	79.0	77.0					19																	38901820		2023	4176	6199	-	-	-	SO:0001583	missense	0			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1787C>G	19.37:g.38901820G>C	ENSP00000465772:p.Ala596Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.A596G	ENST00000587738.1	37	c.1787	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	G	4.370	0.068265	0.08436	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000454404	T;T;T	0.76968	-1.06;-0.81;-0.92	5.71	-0.348	0.12613	.	1.593240	0.03458	N	0.211759	T	0.59783	0.2219	N	0.05230	-0.09	0.09310	N	1	B;B;B;B;B;B;B	0.15719	0.014;0.006;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B;B	0.13407	0.009;0.006;0.0;0.0;0.0;0.0;0.0	T	0.51482	-0.8700	10	0.52906	T	0.07	-1.2901	7.8599	0.29504	0.2061:0.2208:0.5731:0.0	.	407;499;504;562;527;582;596	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	G	504;499;407;596	ENSP00000411878:A504G;ENSP00000293062:A499G;ENSP00000445966:A407G	ENSP00000293062:A499G	A	-	2	0	RASGRP4	43593660	.	.	0.114000	0.21550	0.005000	0.04900	.	.	-0.107000	0.12088	-1.273000	0.01405	GCC	RASGRP4	-	NULL	ENSG00000171777		0.632	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	281	0.00	0	G	NM_170604		38901820	38901820	-1	no_errors	ENST00000587738	ensembl	human	known	69_37n	missense	140	44.05	111	SNP	0.069	C
RBBP8	5932	genome.wustl.edu	37	18	20572915	20572915	+	Silent	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:20572915T>A	ENST00000399722.2	+	11	1476	c.1125T>A	c.(1123-1125)acT>acA	p.T375T	RBBP8_ENST00000360790.5_Silent_p.T375T|RBBP8_ENST00000327155.5_Silent_p.T375T|RBBP8_ENST00000399725.2_Silent_p.T375T	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	375					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TAGAAAAAACTAGATCAAAAT	0.343								Homologous recombination																														dbGAP											0													66.0	69.0	68.0					18																	20572915		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1125T>A	18.37:g.20572915T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.T375	ENST00000399722.2	37	c.1125	CCDS11875.1	18																																																																																			RBBP8	-	NULL	ENSG00000101773		0.343	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	58	0.00	0	T	NM_203291		20572915	20572915	+1	no_errors	ENST00000327155	ensembl	human	known	69_37n	silent	57	41.84	41	SNP	0.005	A
RBM42	79171	genome.wustl.edu	37	19	36125260	36125260	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:36125260C>T	ENST00000262633.4	+	8	1225	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	RBM42_ENST00000588161.1_Silent_p.L344L|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Silent_p.L352L|RBM42_ENST00000589559.1_Silent_p.L345L|RBM42_ENST00000592202.1_Silent_p.L320L|RBM42_ENST00000360475.4_Silent_p.L345L	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	374	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCCAGCCTGCTGGAGTGGGA	0.622																																						dbGAP											0													36.0	34.0	35.0					19																	36125260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1120C>T	19.37:g.36125260C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00320|Q8N5R7|Q9BU66	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L374	ENST00000262633.4	37	c.1120	CCDS12468.1	19																																																																																			RBM42	-	NULL	ENSG00000126254		0.622	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	49	0.00	0	C	NM_024321		36125260	36125260	+1	no_errors	ENST00000262633	ensembl	human	known	69_37n	silent	35	23.91	11	SNP	1.000	T
RBM44	375316	genome.wustl.edu	37	2	238725800	238725800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:238725800delT	ENST00000409864.1	+	3	495	c.241delT	c.(241-243)tttfs	p.F82fs	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Frame_Shift_Del_p.F82fs			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	81						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATTAGAGCCATTTTTTTCAGT	0.333																																						dbGAP											0													68.0	69.0	69.0					2																	238725800		1832	4065	5897	-	-	-	SO:0001589	frameshift_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.241delT	2.37:g.238725800delT	ENSP00000386727:p.Phe82fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW3	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S83fs	ENST00000409864.1	37	c.241	CCDS46554.1	2																																																																																			RBM44	-	NULL	ENSG00000177483		0.333	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	HGNC	protein_coding	OTTHUMT00000328733.2	85	0.00	0	T	NM_001080504		238725800	238725800	+1	no_errors	ENST00000316997	ensembl	human	known	69_37n	frame_shift_del	69	33.96	36	DEL	0.003	-
RBMXL3	139804	genome.wustl.edu	37	X	114424802	114424802	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:114424802C>T	ENST00000424776.3	+	1	840	c.798C>T	c.(796-798)caC>caT	p.H266H	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	266							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						ATTATGGCCACTCCAGTGTCC	0.632																																						dbGAP											0													13.0	15.0	15.0					X																	114424802		691	1585	2276	-	-	-	SO:0001819	synonymous_variant	0			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.798C>T	X.37:g.114424802C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H266	ENST00000424776.3	37	c.798	CCDS55478.1	X																																																																																			RBMXL3	-	NULL	ENSG00000175718		0.632	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	24	0.00	0	C	NM_001145346		114424802	114424802	+1	no_errors	ENST00000424776	ensembl	human	known	69_37n	silent	22	39.47	15	SNP	0.001	T
RCC2	55920	genome.wustl.edu	37	1	17739610	17739610	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:17739610C>T	ENST00000375436.4	-	10	1459	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	RCC2_ENST00000375433.3_Silent_p.V424V|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	424					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGAGGTCCTGCACTGCTTTTG	0.557																																						dbGAP											0													50.0	46.0	48.0					1																	17739610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1272G>A	1.37:g.17739610C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V424	ENST00000375436.4	37	c.1272	CCDS181.1	1																																																																																			RCC2	-	superfamily_Reg_csome_cond/b-lactamase_inh	ENSG00000179051		0.557	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	209	0.00	0	C	NM_018715		17739610	17739610	-1	no_errors	ENST00000375433	ensembl	human	known	69_37n	silent	135	42.80	101	SNP	0.987	T
RCN1	5954	genome.wustl.edu	37	11	32112926	32112926	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:32112926G>A	ENST00000054950.3	+	1	477	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	RCN1_ENST00000532942.1_Intron	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	62					camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					CGACCACGAGGCCTTCCTGGG	0.701																																						dbGAP											0													16.0	13.0	14.0					11																	32112926		2064	4006	6070	-	-	-	SO:0001583	missense	0			D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.184G>A	11.37:g.32112926G>A	ENSP00000054950:p.Ala62Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z1M1|D3DR00	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A62T	ENST00000054950.3	37	c.184	CCDS7876.1	11	.	.	.	.	.	.	.	.	.	.	g	34	5.304601	0.95601	.	.	ENSG00000049449	ENST00000054950;ENST00000400416	T	0.54071	0.59	4.01	4.01	0.46588	.	0.058914	0.64402	U	0.000003	T	0.73885	0.3644	M	0.88704	2.975	0.80722	D	1	D	0.57899	0.981	P	0.61328	0.887	T	0.80259	-0.1457	10	0.54805	T	0.06	-14.0693	15.9601	0.79923	0.0:0.0:1.0:0.0	.	62	Q15293	RCN1_HUMAN	T	62	ENSP00000054950:A62T	ENSP00000054950:A62T	A	+	1	0	RCN1	32069502	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.010000	0.93611	2.077000	0.62373	0.187000	0.17357	GCC	RCN1	-	NULL	ENSG00000049449		0.701	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN1	HGNC	protein_coding	OTTHUMT00000388510.1	29	0.00	0	G	NM_002901		32112926	32112926	+1	no_errors	ENST00000054950	ensembl	human	known	69_37n	missense	17	33.33	9	SNP	1.000	A
RDH5	5959	genome.wustl.edu	37	12	56115678	56115679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:56115678_56115679insG	ENST00000257895.5	+	3	668_669	c.516_517insG	c.(517-519)gggfs	p.G173fs	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000553160.1_Intron|RDH5_ENST00000547072.1_Frame_Shift_Ins_p.G76fs|RDH5_ENST00000548082.1_Frame_Shift_Ins_p.G173fs	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	173					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CAGCCAATGGTGGGGGCTACTG	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.521dupG	12.37:g.56115683_56115683dupG	ENSP00000257895:p.Gly173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00179|Q8TAI2	Frame_Shift_Ins	INS	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.Y174fs	ENST00000257895.5	37	c.516_517	CCDS31829.1	12																																																																																			RDH5	-	pfam_DH_sc/Rdtase_SDR	ENSG00000135437		0.634	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH5	HGNC	protein_coding	OTTHUMT00000407493.1	60	0.00	0	-	NM_002905		56115678	56115679	+1	no_errors	ENST00000257895	ensembl	human	known	69_37n	frame_shift_ins	51	26.09	18	INS	0.639:1.000	G
REPIN1	29803	genome.wustl.edu	37	7	150069011	150069011	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:150069011C>T	ENST00000425389.2	+	1	759	c.681C>T	c.(679-681)ccC>ccT	p.P227P	REPIN1_ENST00000540729.1_Silent_p.P227P|REPIN1_ENST00000466559.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000397281.2_Silent_p.P227P|REPIN1_ENST00000444957.1_Silent_p.P227P|REPIN1_ENST00000489432.2_Silent_p.P284P	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	227					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ccccccggcccggTGGAGATG	0.736																																						dbGAP											0													12.0	14.0	14.0					7																	150069011		1799	3958	5757	-	-	-	SO:0001819	synonymous_variant	0			AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.681C>T	7.37:g.150069011C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P284	ENST00000425389.2	37	c.852	CCDS43677.1	7																																																																																			REPIN1	-	NULL	ENSG00000214022		0.736	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	REPIN1	HGNC	protein_coding	OTTHUMT00000376940.1	12	0.00	0	C	NM_014374		150069011	150069011	+1	no_errors	ENST00000489432	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.623	T
RERE	473	genome.wustl.edu	37	1	8416175	8416175	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:8416175G>A	ENST00000337907.3	-	22	5105	c.4471C>T	c.(4471-4473)Cgc>Tgc	p.R1491C	RERE_ENST00000377464.1_Missense_Mutation_p.R1223C|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.R1491C|RERE_ENST00000476556.1_Missense_Mutation_p.R937C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1491	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGGGTGGCGAAGCATCTCG	0.632																																						dbGAP											0													110.0	127.0	121.0					1																	8416175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4471C>T	1.37:g.8416175G>A	ENSP00000338629:p.Arg1491Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.R1491C	ENST00000337907.3	37	c.4471	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.097383	0.94197	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T	0.57436	0.4;0.42;0.4	6.08	6.08	0.98989	.	.	.	.	.	T	0.74673	0.3747	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75311	-0.3362	9	0.87932	D	0	-20.1939	19.6516	0.95815	0.0:0.0:1.0:0.0	.	1491	Q9P2R6	RERE_HUMAN	C	1491;1223;937;1491;147	ENSP00000338629:R1491C;ENSP00000366684:R1223C;ENSP00000383700:R1491C	ENSP00000338629:R1491C	R	-	1	0	RERE	8338762	1.000000	0.71417	0.982000	0.44146	0.847000	0.48162	7.835000	0.86780	2.894000	0.99253	0.655000	0.94253	CGC	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.632	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	199	0.00	0	G			8416175	8416175	-1	no_errors	ENST00000337907	ensembl	human	known	69_37n	missense	123	40.95	86	SNP	1.000	A
RET	5979	genome.wustl.edu	37	10	43597893	43597895	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:43597893_43597895delCTC	ENST00000355710.3	+	3	673_675	c.441_443delCTC	c.(439-444)ttctcc>ttc	p.S148del	RET_ENST00000340058.5_In_Frame_Del_p.S148del	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	148					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCGTATACTTCTCCTTCTTCAAC	0.621		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0																																										-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.441_443delCTC	10.37:g.43597893_43597895delCTC	ENSP00000347942:p.Ser148del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	In_Frame_Del	DEL	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.S148in_frame_del	ENST00000355710.3	37	c.441_443	CCDS7200.1	10																																																																																			RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.621	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	201	0.00	0	CTC	NM_020975		43597893	43597895	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	in_frame_del	162	31.36	74	DEL	0.516:0.499:0.495	-
REV1	51455	genome.wustl.edu	37	2	100019234	100019234	+	Silent	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:100019234C>G	ENST00000258428.3	-	21	3642	c.3414G>C	c.(3412-3414)gtG>gtC	p.V1138V	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'Flank|REV1_ENST00000393445.3_Silent_p.V1137V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1138					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCCTGGCACACCTGAAG	0.428								Direct reversal of damage																														dbGAP											0													99.0	105.0	103.0					2																	100019234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3414G>C	2.37:g.100019234C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.V1138	ENST00000258428.3	37	c.3414	CCDS2045.1	2																																																																																			REV1	-	pirsf_REV1	ENSG00000135945		0.428	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	214	0.00	0	C	NM_016316		100019234	100019234	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	silent	153	33.76	79	SNP	0.000	G
REV1	51455	genome.wustl.edu	37	2	100055545	100055545	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:100055545G>A	ENST00000258428.3	-	6	959	c.731C>T	c.(730-732)cCc>cTc	p.P244L	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P244L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	244					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTGACCATGGGCACCAAGCA	0.502								Direct reversal of damage																														dbGAP											0													64.0	58.0	60.0					2																	100055545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.731C>T	2.37:g.100055545G>A	ENSP00000258428:p.Pro244Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.P244L	ENST00000258428.3	37	c.731	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568442	0.45798	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.28895	1.59;1.59	5.54	4.66	0.58398	.	0.419971	0.29335	N	0.012446	T	0.29491	0.0735	M	0.64997	1.995	0.49687	D	0.999815	P;P;B	0.45283	0.855;0.799;0.274	B;B;B	0.40901	0.225;0.343;0.16	T	0.05767	-1.0865	10	0.38643	T	0.18	.	7.8779	0.29605	0.0738:0.0:0.649:0.2772	.	223;244;244	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	L	244	ENSP00000377091:P244L;ENSP00000258428:P244L	ENSP00000258428:P244L	P	-	2	0	REV1	99421977	0.997000	0.39634	0.835000	0.33067	0.998000	0.95712	2.616000	0.46376	1.342000	0.45619	0.655000	0.94253	CCC	REV1	-	pirsf_REV1	ENSG00000135945		0.502	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	134	0.00	0	G	NM_016316		100055545	100055545	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	missense	102	35.80	58	SNP	0.899	A
REV3L	5980	genome.wustl.edu	37	6	111696541	111696541	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:111696541A>G	ENST00000358835.3	-	14	3471	c.3017T>C	c.(3016-3018)tTa>tCa	p.L1006S	REV3L_ENST00000368805.1_Missense_Mutation_p.L1006S|REV3L_ENST00000368802.3_Missense_Mutation_p.L1006S|REV3L_ENST00000435970.1_Missense_Mutation_p.L928S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1006					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTCTGTTAATATTACTTG	0.323								DNA polymerases (catalytic subunits)																														dbGAP											0													60.0	58.0	58.0					6																	111696541		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3017T>C	6.37:g.111696541A>G	ENSP00000351697:p.Leu1006Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.L1006S	ENST00000358835.3	37	c.3017	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220401	0.58560	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.11604	2.85;2.85;2.85;2.76	6.02	6.02	0.97574	Ribonuclease H-like (1);	0.279031	0.27917	N	0.017321	T	0.21590	0.0520	L	0.59436	1.845	0.38241	D	0.941324	D	0.89917	1.0	D	0.71414	0.973	T	0.00817	-1.1554	10	0.87932	D	0	-20.7036	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1006	O60673	DPOLZ_HUMAN	S	1006;1006;1006;928	ENSP00000357792:L1006S;ENSP00000357795:L1006S;ENSP00000351697:L1006S;ENSP00000402003:L928S	ENSP00000351697:L1006S	L	-	2	0	REV3L	111803234	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.792000	0.91856	2.311000	0.77944	0.533000	0.62120	TTA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	113	0.00	0	A	NM_002912		111696541	111696541	-1	no_errors	ENST00000358835	ensembl	human	known	69_37n	missense	82	43.84	64	SNP	1.000	G
RFX1	5989	genome.wustl.edu	37	19	14093025	14093025	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:14093025G>A	ENST00000254325.4	-	5	763	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	177					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ACCACCAGACGCTGCGTGGGA	0.657																																						dbGAP											0													39.0	36.0	37.0					19																	14093025		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.529C>T	19.37:g.14093025G>A	ENSP00000254325:p.Arg177Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.R177C	ENST00000254325.4	37	c.529	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628787	0.67015	.	.	ENSG00000132005	ENST00000254325	T	0.45276	0.9	5.18	5.18	0.71444	.	0.217436	0.36101	N	0.002786	T	0.34019	0.0883	N	0.24115	0.695	0.48341	D	0.999634	D	0.60575	0.988	B	0.42386	0.386	T	0.31861	-0.9928	10	0.72032	D	0.01	-2.8359	17.4779	0.87666	0.0:0.0:1.0:0.0	.	177	P22670	RFX1_HUMAN	C	177	ENSP00000254325:R177C	ENSP00000254325:R177C	R	-	1	0	RFX1	13954025	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	2.961000	0.49168	2.422000	0.82143	0.655000	0.94253	CGT	RFX1	-	NULL	ENSG00000132005		0.657	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	19	0.00	0	G	NM_002918		14093025	14093025	-1	no_errors	ENST00000254325	ensembl	human	known	69_37n	missense	17	41.38	12	SNP	1.000	A
RFXANK	8625	genome.wustl.edu	37	19	19308331	19308331	+	Splice_Site	SNP	T	T	C	rs374843362		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:19308331T>C	ENST00000303088.4	+	6	813	c.339T>C	c.(337-339)ggT>ggC	p.G113G	RFXANK_ENST00000392324.4_Splice_Site_p.C90C|RFXANK_ENST00000353145.1_Splice_Site_p.C90C|RFXANK_ENST00000407360.3_Splice_Site_p.G113G|RFXANK_ENST00000456252.3_Splice_Site_p.C91C	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	113					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCCTGCCAGGTGACAACCTCG	0.647																																						dbGAP											0													32.0	29.0	30.0					19																	19308331		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.338-1T>C	19.37:g.19308331T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95839|Q24JQ1|Q6FGA8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G113	ENST00000303088.4	37	c.339	CCDS12395.1	19																																																																																			RFXANK	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt-contain_dom	ENSG00000064490		0.647	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	RFXANK	HGNC	protein_coding	OTTHUMT00000402923.2	23	0.00	0	T	NM_003721	Silent	19308331	19308331	+1	no_errors	ENST00000303088	ensembl	human	known	69_37n	silent	22	32.35	11	SNP	0.754	C
RHBG	57127	genome.wustl.edu	37	1	156354347	156354348	+	Frame_Shift_Ins	INS	-	-	C	rs71591938|rs11303415|rs587735548	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:156354347_156354348insC	ENST00000368249.1	+	9	1302_1303	c.1264_1265insC	c.(1264-1266)tccfs	p.S422fs	RHBG_ENST00000400992.2_Frame_Shift_Ins_p.S390fs|RHBG_ENST00000368246.2_Splice_Site|RHBG_ENST00000255013.3_Frame_Shift_Ins_p.S353fs|RHBG_ENST00000494874.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	422	Interaction with ANK3.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R425fs*>17(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTTTCTGGACTCCCCCCCCAGA	0.634											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1272dupC	1.37:g.156354355_156354355dupC	ENSP00000357232:p.Ser422fs	Somatic	1777	WXS	Illumina GAIIx	Phase_IV	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Frame_Shift_Ins	INS	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.R393fs	ENST00000368249.1	37	c.1168_1169		1																																																																																			RHBG	-	superfamily_NH4_transpt_AmtB-like	ENSG00000132677		0.634	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	251	0.40	1	-	NM_001256395		156354347	156354348	+1	no_errors	ENST00000400992	ensembl	human	known	69_37n	frame_shift_ins	399	13.82	64	INS	0.006:0.723	C
RHOT1	55288	genome.wustl.edu	37	17	30498102	30498102	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:30498102T>C	ENST00000333942.6	+	2	317	c.78T>C	c.(76-78)agT>agC	p.S26S	RHOT1_ENST00000545287.2_Silent_p.S26S|RHOT1_ENST00000394692.2_Silent_p.S26S|RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000354266.3_Silent_p.S5S|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000581094.1_Silent_p.S26S|RHOT1_ENST00000358365.3_Silent_p.S26S	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	26	Miro 1.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CTCTGGTCAGTGAAGAATTTC	0.289																																						dbGAP											0													75.0	73.0	73.0					17																	30498102		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.78T>C	17.37:g.30498102T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Silent	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S26	ENST00000333942.6	37	c.78	CCDS32612.1	17																																																																																			RHOT1	-	pfam_MIRO-like,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_Miro,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000126858		0.289	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	168	0.00	0	T	NM_018307		30498102	30498102	+1	no_errors	ENST00000358365	ensembl	human	known	69_37n	silent	122	13.29	19	SNP	1.000	C
RHOXF1	158800	genome.wustl.edu	37	X	119249600	119249600	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:119249600T>C	ENST00000217999.2	-	1	247	c.173A>G	c.(172-174)aAc>aGc	p.N58S	GS1-421I3.4_ENST00000422226.1_lincRNA|RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	58					gamete generation (GO:0007276)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|sexual reproduction (GO:0019953)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GTTCATGCCGTTCTCGTGGTT	0.677																																						dbGAP											0													59.0	55.0	56.0					X																	119249600		2200	4299	6499	-	-	-	SO:0001583	missense	0				CCDS14593.1	Xq24	2011-06-20			ENSG00000101883	ENSG00000101883		"""Homeoboxes / PRD class"""	29993	protein-coding gene	gene with protein product		300446				11980563, 12490318	Standard	NM_139282		Approved	OTEX, PEPP1	uc004esk.2	Q8NHV9	OTTHUMG00000022290	ENST00000217999.2:c.173A>G	X.37:g.119249600T>C	ENSP00000217999:p.Asn58Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O95030|Q3SYE0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.N58S	ENST00000217999.2	37	c.173	CCDS14593.1	X	.	.	.	.	.	.	.	.	.	.	t	3.793	-0.043260	0.07452	.	.	ENSG00000101883	ENST00000217999	D	0.89617	-2.54	2.41	-4.83	0.03161	.	.	.	.	.	T	0.73032	0.3535	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.58053	-0.7704	9	0.18276	T	0.48	-0.0781	5.2723	0.15632	0.0:0.2005:0.4933:0.3062	.	58	Q8NHV9	RHXF1_HUMAN	S	58	ENSP00000217999:N58S	ENSP00000217999:N58S	N	-	2	0	RHOXF1	119133628	0.006000	0.16342	0.000000	0.03702	0.000000	0.00434	-0.144000	0.10280	-1.604000	0.01595	-0.445000	0.05633	AAC	RHOXF1	-	NULL	ENSG00000101883		0.677	RHOXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF1	HGNC	protein_coding	OTTHUMT00000058083.2	43	0.00	0	T	NM_139282		119249600	119249600	-1	no_errors	ENST00000217999	ensembl	human	known	69_37n	missense	34	33.33	17	SNP	0.000	C
RHPN1	114822	genome.wustl.edu	37	8	144461121	144461121	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:144461121C>A	ENST00000289013.6	+	7	725	c.624C>A	c.(622-624)gcC>gcA	p.A208A		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	208	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGCAGCGTGCCCTGGCCTTCG	0.692																																						dbGAP											0													20.0	25.0	23.0					8																	144461121		2039	4166	6205	-	-	-	SO:0001819	synonymous_variant	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.624C>A	8.37:g.144461121C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAV1|Q96PV9	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.A208	ENST00000289013.6	37	c.624	CCDS47927.1	8																																																																																			RHPN1	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000158106		0.692	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	56	0.00	0	C			144461121	144461121	+1	no_errors	ENST00000289013	ensembl	human	known	69_37n	silent	32	31.91	15	SNP	0.994	A
RIF1	55183	genome.wustl.edu	37	2	152289601	152289601	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:152289601T>C	ENST00000243326.5	+	9	1419	c.936T>C	c.(934-936)tgT>tgC	p.C312C	RIF1_ENST00000453091.2_Silent_p.C312C|RIF1_ENST00000430328.2_Silent_p.C312C|RIF1_ENST00000428287.2_Silent_p.C312C|RIF1_ENST00000433166.2_Silent_p.C281C|RIF1_ENST00000444746.2_Silent_p.C312C			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATATACTATGTAGTGCAAAAA	0.353																																						dbGAP											0													92.0	90.0	90.0					2																	152289601		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.936T>C	2.37:g.152289601T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS0|Q9NS16	Nonstop_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.*304Q	ENST00000243326.5	37	c.910	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	T	9.165	1.019788	0.19355	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.65	0.108	0.14548	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.0846	9.4866	0.38933	0.0:0.5421:0.0:0.4579	.	.	.	.	Q	304	.	.	X	+	1	0	RIF1	151997847	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.188000	0.32102	0.089000	0.17243	-0.280000	0.10049	TAG	RIF1	-	NULL	ENSG00000080345		0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	291	0.00	0	T			152289601	152289601	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000414861	ensembl	human	novel	69_37n	nonstop	204	35.44	112	SNP	1.000	C
RLN1	6013	genome.wustl.edu	37	9	5335193	5335194	+	3'UTR	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:5335193_5335194insA	ENST00000223862.1	-	0	741_742				RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1						female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		AAGCATCAGTGAAATGTCATCA	0.317																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.*58->T	9.37:g.5335196_5335196dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q99936|Q9UQJ1	RNA	INS	-	NULL	ENST00000223862.1	37	NULL	CCDS6462.1	9																																																																																			RLN1	-	-	ENSG00000107018		0.317	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	HGNC	protein_coding	OTTHUMT00000051617.1	101	0.00	0	-			5335193	5335194	-1	no_errors	ENST00000487557	ensembl	human	known	69_37n	rna	56	36.36	32	INS	0.001:0.002	A
RLTPR	146206	genome.wustl.edu	37	16	67684005	67684005	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:67684005C>T	ENST00000334583.6	+	22	2464	c.2136C>T	c.(2134-2136)caC>caT	p.H712H	RLTPR_ENST00000545661.1_Silent_p.H676H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	712					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTTCTGACCACACGACCCGCC	0.597																																						dbGAP											0													66.0	74.0	71.0					16																	67684005		2066	4185	6251	-	-	-	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2136C>T	16.37:g.67684005C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.H712	ENST00000334583.6	37	c.2136	CCDS45513.1	16																																																																																			RLTPR	-	NULL	ENSG00000159753		0.597	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	160	0.62	1	C	NM_001013838		67684005	67684005	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	silent	132	32.65	64	SNP	0.000	T
RND3	390	genome.wustl.edu	37	2	151331469	151331469	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:151331469G>T	ENST00000375734.2	-	3	517	c.268C>A	c.(268-270)Ctc>Atc	p.L90I	RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.L90I	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	90					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGGTAAGAGAGGGGGCGGACA	0.463																																						dbGAP											0													92.0	90.0	90.0					2																	151331469		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.268C>A	2.37:g.151331469G>T	ENSP00000364886:p.Leu90Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DP95|P52199	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L90I	ENST00000375734.2	37	c.268	CCDS2190.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.418585	0.96092	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000439275;ENST00000454202	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	M	0.78049	2.395	0.80722	D	1	D;D;D	0.63880	0.993;0.965;0.965	D;D;D	0.76071	0.987;0.961;0.961	D	0.85751	0.1343	10	0.87932	D	0	-19.3973	19.5289	0.95219	0.0:0.0:1.0:0.0	.	90;90;90	B2R838;D3DP96;P61587	.;.;RND3_HUMAN	I	90	ENSP00000364886:L90I;ENSP00000263895:L90I;ENSP00000395997:L90I;ENSP00000411950:L90I	ENSP00000263895:L90I	L	-	1	0	RND3	151039715	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	CTC	RND3	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000115963		0.463	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RND3	HGNC	protein_coding	OTTHUMT00000254809.1	332	0.00	0	G	NM_005168		151331469	151331469	-1	no_errors	ENST00000263895	ensembl	human	known	69_37n	missense	188	37.33	112	SNP	1.000	T
RNF126	55658	genome.wustl.edu	37	19	648216	648216	+	Frame_Shift_Del	DEL	G	G	-	rs557362239		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:648216delG	ENST00000292363.5	-	9	1003	c.848delC	c.(847-849)cctfs	p.P283fs		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGAGGCCAGGGGGGTTCGT	0.652																																						dbGAP											0													90.0	73.0	78.0					19																	648216		2195	4298	6493	-	-	-	SO:0001589	frameshift_variant	0			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.848delC	19.37:g.648216delG	ENSP00000292363:p.Pro283fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P283fs	ENST00000292363.5	37	c.848	CCDS12039.1	19																																																																																			RNF126	-	NULL	ENSG00000070423		0.652	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	234	0.00	0	G	NM_017876		648216	648216	-1	no_errors	ENST00000292363	ensembl	human	known	69_37n	frame_shift_del	69	62.50	130	DEL	1.000	-
RNF13	11342	genome.wustl.edu	37	3	149678568	149678568	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:149678568delA	ENST00000344229.3	+	11	1525	c.823delA	c.(823-825)aaafs	p.K276fs	RNF13_ENST00000361785.6_Frame_Shift_Del_p.K157fs|RNF13_ENST00000392894.3_Frame_Shift_Del_p.K276fs	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	276					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AACTAAAACCAAAAAAACCTG	0.378																																						dbGAP											0													64.0	63.0	63.0					3																	149678568		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.823delA	3.37:g.149678568delA	ENSP00000341361:p.Lys276fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC87|B3KR12|Q05D66|Q6IBJ9	Frame_Shift_Del	DEL	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T277fs	ENST00000344229.3	37	c.823	CCDS3146.1	3																																																																																			RNF13	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000082996		0.378	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF13	HGNC	protein_coding	OTTHUMT00000356876.1	128	0.00	0	A	NM_183384		149678568	149678568	+1	no_errors	ENST00000344229	ensembl	human	known	69_37n	frame_shift_del	85	40.65	63	DEL	1.000	-
RNF146	81847	genome.wustl.edu	37	6	127608398	127608398	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:127608398C>T	ENST00000368314.1	+	3	1064	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	RNF146_ENST00000610153.1_Missense_Mutation_p.P214S|RNF146_ENST00000608991.1_Missense_Mutation_p.P213S|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.P213S	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	214					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TTCTGTTCAGCCCCTAGTGTC	0.498																																						dbGAP											0													106.0	103.0	104.0					6																	127608398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.640C>T	6.37:g.127608398C>T	ENSP00000357297:p.Pro214Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.P214S	ENST00000368314.1	37	c.640	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	C	4.922	0.171383	0.09391	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.23147	1.92;1.92;1.92	5.83	4.96	0.65561	.	0.480644	0.23309	N	0.049598	T	0.10551	0.0258	L	0.38838	1.175	0.39386	D	0.966332	B	0.02656	0.0	B	0.01281	0.0	T	0.05178	-1.0901	10	0.28530	T	0.3	-4.9972	14.9141	0.70781	0.0:0.9316:0.0:0.0684	.	214	Q9NTX7	RN146_HUMAN	S	214;213;213	ENSP00000357297:P214S;ENSP00000349253:P213S;ENSP00000309365:P213S	ENSP00000309365:P213S	P	+	1	0	RNF146	127650091	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	3.006000	0.49529	1.484000	0.48361	0.655000	0.94253	CCC	RNF146	-	NULL	ENSG00000118518		0.498	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	227	0.44	1	C	NM_030963		127608398	127608398	+1	no_errors	ENST00000368314	ensembl	human	known	69_37n	missense	138	37.27	82	SNP	1.000	T
RNF146	81847	genome.wustl.edu	37	6	127608744	127608744	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:127608744C>T	ENST00000368314.1	+	3	1410	c.986C>T	c.(985-987)tCg>tTg	p.S329L	RNF146_ENST00000610153.1_Missense_Mutation_p.S329L|RNF146_ENST00000608991.1_Missense_Mutation_p.S328L|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.S328L	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	329				S -> L (in Ref. 3; BAB55108). {ECO:0000305}.	positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		TCAGATCGATCGGGAACTGAT	0.463																																						dbGAP											0													78.0	76.0	77.0					6																	127608744		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.986C>T	6.37:g.127608744C>T	ENSP00000357297:p.Ser329Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.S329L	ENST00000368314.1	37	c.986	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	C	2.287	-0.363266	0.05103	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.23754	1.89;1.89;1.89	3.67	1.87	0.25490	.	0.520312	0.15095	N	0.280839	T	0.06872	0.0175	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31024	-0.9958	10	0.52906	T	0.07	-7.8432	5.7791	0.18295	0.0:0.7547:0.0:0.2453	.	329	Q9NTX7	RN146_HUMAN	L	329;328;328	ENSP00000357297:S329L;ENSP00000349253:S328L;ENSP00000309365:S328L	ENSP00000309365:S328L	S	+	2	0	RNF146	127650437	0.072000	0.21174	0.003000	0.11579	0.010000	0.07245	0.746000	0.26275	0.542000	0.28846	0.460000	0.39030	TCG	RNF146	-	NULL	ENSG00000118518		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	171	0.00	0	C	NM_030963		127608744	127608744	+1	no_errors	ENST00000368314	ensembl	human	known	69_37n	missense	95	43.86	75	SNP	0.018	T
RNF207	388591	genome.wustl.edu	37	1	6269366	6269366	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:6269366A>G	ENST00000377939.4	+	6	717	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	RNF207_ENST00000377948.2_5'UTR	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	197						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAATCGGCTTACGTGCAGGGC	0.771																																						dbGAP											0													5.0	5.0	5.0					1																	6269366		1681	3643	5324	-	-	-	SO:0001583	missense	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.590A>G	1.37:g.6269366A>G	ENSP00000367173:p.Tyr197Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y197C	ENST00000377939.4	37	c.590	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594024	0.86953	.	.	ENSG00000158286	ENST00000377939	T	0.22539	1.95	4.45	4.45	0.53987	.	0.000000	0.47852	U	0.000216	T	0.44871	0.1314	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.41716	-0.9493	10	0.49607	T	0.09	-14.8141	14.0191	0.64543	1.0:0.0:0.0:0.0	.	197	Q6ZRF8	RN207_HUMAN	C	197	ENSP00000367173:Y197C	ENSP00000367173:Y197C	Y	+	2	0	RNF207	6191953	1.000000	0.71417	0.839000	0.33178	0.926000	0.56050	8.072000	0.89496	1.782000	0.52362	0.459000	0.35465	TAC	RNF207	-	NULL	ENSG00000158286		0.771	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	21	0.00	0	A	NM_207396		6269366	6269366	+1	no_errors	ENST00000377939	ensembl	human	novel	69_37n	missense	12	36.84	7	SNP	1.000	G
RNF212	285498	genome.wustl.edu	37	4	1094724	1094724	+	Intron	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:1094724A>G	ENST00000433731.2	-	3	233				RNF212_ENST00000382968.5_Intron|RNF212_ENST00000505730.1_5'UTR|RNF212_ENST00000333673.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GATGTGTTATAGCTGTTCAGA	0.418																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.172-4097T>C	4.37:g.1094724A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	RNA	SNP	-	NULL	ENST00000433731.2	37	NULL	CCDS46996.1	4																																																																																			RNF212	-	-	ENSG00000178222		0.418	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	HGNC	protein_coding	OTTHUMT00000359124.2	48	0.00	0	A	NM_194439		1094724	1094724	-1	no_errors	ENST00000505730	ensembl	human	known	69_37n	rna	13	53.57	15	SNP	0.997	G
RNF213	57674	genome.wustl.edu	37	17	78320424	78320424	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:78320424T>C	ENST00000582970.1	+	29	8432	c.8289T>C	c.(8287-8289)atT>atC	p.I2763I	RNF213_ENST00000336301.6_Silent_p.I836I|RNF213_ENST00000508628.2_Silent_p.I2812I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2763					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGAAGATTCCCCTCTTCC	0.567																																						dbGAP											0													45.0	43.0	43.0					17																	78320424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8289T>C	17.37:g.78320424T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I2763	ENST00000582970.1	37	c.8289	CCDS58606.1	17																																																																																			RNF213	-	smart_AAA+_ATPase	ENSG00000173821		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	24	0.00	0	T	NM_020914		78320424	78320424	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	58	22.67	17	SNP	0.939	C
RNF213	57674	genome.wustl.edu	37	17	78321794	78321794	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:78321794G>A	ENST00000582970.1	+	29	9802	c.9659G>A	c.(9658-9660)gGc>gAc	p.G3220D	RNF213_ENST00000336301.6_Missense_Mutation_p.G1293D|RNF213_ENST00000508628.2_Missense_Mutation_p.G3269D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3220					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTCTTCATCGGCTACCACTCG	0.567																																						dbGAP											0													58.0	60.0	60.0					17																	78321794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9659G>A	17.37:g.78321794G>A	ENSP00000464087:p.Gly3220Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.G3220D	ENST00000582970.1	37	c.9659	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020705	0.54576	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.18657	2.2	5.41	5.41	0.78517	.	0.056126	0.64402	D	0.000001	T	0.55065	0.1897	M	0.87269	2.87	0.51767	D	0.999938	D	0.89917	1.0	D	0.87578	0.998	T	0.61964	-0.6954	10	0.87932	D	0	.	19.5377	0.95260	0.0:0.0:1.0:0.0	.	1293	Q63HN8	RN213_HUMAN	D	3220;3269;1293	ENSP00000338218:G1293D	ENSP00000338218:G1293D	G	+	2	0	RNF213	75936389	1.000000	0.71417	0.993000	0.49108	0.659000	0.38960	7.697000	0.84279	2.691000	0.91804	0.563000	0.77884	GGC	RNF213	-	NULL	ENSG00000173821		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	128	0.00	0	G	NM_020914		78321794	78321794	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	261	13.61	43	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78332203	78332203	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:78332203T>C	ENST00000582970.1	+	37	11121	c.10978T>C	c.(10978-10980)Tgg>Cgg	p.W3660R	RNF213_ENST00000336301.6_Missense_Mutation_p.W1733R|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.W3709R|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3660					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TACTCCGCCCTGGGCAAGAGA	0.493																																						dbGAP											0													106.0	89.0	95.0					17																	78332203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10978T>C	17.37:g.78332203T>C	ENSP00000464087:p.Trp3660Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.W3660R	ENST00000582970.1	37	c.10978	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792369	0.70452	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.58	5.58	0.84498	.	0.286203	0.35495	N	0.003175	T	0.53594	0.1806	M	0.82323	2.585	0.30601	N	0.760485	D;D	0.89917	1.0;0.98	D;P	0.76575	0.988;0.694	T	0.62067	-0.6932	10	0.52906	T	0.07	.	13.9784	0.64287	0.0:0.0:0.0:1.0	.	3709;1733	C9JCP4;Q63HN8	.;RN213_HUMAN	R	3660;3709;1733	ENSP00000338218:W1733R	ENSP00000338218:W1733R	W	+	1	0	RNF213	75946798	0.999000	0.42202	1.000000	0.80357	0.875000	0.50365	3.318000	0.51975	2.111000	0.64477	0.519000	0.50382	TGG	RNF213	-	NULL	ENSG00000173821		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	219	0.00	0	T	NM_020914		78332203	78332203	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	421	14.78	73	SNP	1.000	C
RNF214	257160	genome.wustl.edu	37	11	117150623	117150623	+	Splice_Site	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:117150623G>C	ENST00000531452.1	+	7	1005		c.e7-1		RNF214_ENST00000300650.4_Splice_Site|RNF214_ENST00000530849.1_Splice_Site|RNF214_ENST00000531287.1_Splice_Site	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214								zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TTATCTTACAGAGAGGTGTGG	0.428																																						dbGAP											0													101.0	93.0	95.0					11																	117150623		1861	4105	5966	-	-	-	SO:0001630	splice_region_variant	0			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.960-1G>C	11.37:g.117150623G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUW0|B4DTD1	Splice_Site	SNP	-	e6-1	ENST00000531452.1	37	c.960-1	CCDS41720.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027603	0.75390	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.648	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF214	116655833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.415000	0.73328	2.476000	0.83614	0.462000	0.41574	.	RNF214	-	-	ENSG00000167257		0.428	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	568	0.00	0	G	NM_001077239	Intron	117150623	117150623	+1	no_errors	ENST00000300650	ensembl	human	known	69_37n	splice_site	371	36.58	214	SNP	1.000	C
RNF26	79102	genome.wustl.edu	37	11	119206924	119206924	+	Silent	SNP	G	G	A	rs200447614		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:119206924G>A	ENST00000311413.4	+	1	1688	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	364						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CTCCAGGTGGGCAAGACCCTT	0.602																																						dbGAP											0													92.0	83.0	86.0					11																	119206924		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1092G>A	11.37:g.119206924G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Y8	Silent	SNP	pfscan_Znf_RING	p.G364	ENST00000311413.4	37	c.1092	CCDS8419.1	11																																																																																			RNF26	-	NULL	ENSG00000173456		0.602	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	138	0.00	0	G	NM_032015		119206924	119206924	+1	no_errors	ENST00000311413	ensembl	human	known	69_37n	silent	87	39.16	56	SNP	0.507	A
RNF38	152006	genome.wustl.edu	37	9	36353283	36353283	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:36353283G>A	ENST00000259605.6	-	7	1062	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	RNF38_ENST00000377877.4_Missense_Mutation_p.L243F|RNF38_ENST00000350199.4_Missense_Mutation_p.L236F|RNF38_ENST00000353739.4_Missense_Mutation_p.L269F|RNF38_ENST00000357058.3_Missense_Mutation_p.L236F|RNF38_ENST00000377885.2_Missense_Mutation_p.L236F	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	319	Pro-rich.				male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			CCTACTGGAAGATGTTCTCCT	0.423																																						dbGAP											0													90.0	84.0	86.0					9																	36353283		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.955C>T	9.37:g.36353283G>A	ENSP00000259605:p.Leu319Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L319F	ENST00000259605.6	37	c.955	CCDS6603.1	9	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417279	0.62622	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	L	0.54323	1.7	0.80722	D	1	P;P;P	0.46457	0.807;0.878;0.807	B;P;B	0.46685	0.325;0.524;0.325	T	0.62238	-0.6896	10	0.49607	T	0.09	-16.4019	17.6284	0.88099	0.0:0.0:1.0:0.0	.	243;269;319	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	F	319;269;236;236;236;136;243;243	ENSP00000259605:L319F;ENSP00000335239:L269F;ENSP00000367117:L236F;ENSP00000349566:L236F;ENSP00000343947:L236F;ENSP00000367109:L243F	ENSP00000259605:L319F	L	-	1	0	RNF38	36343283	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.444000	0.97578	2.763000	0.94921	0.557000	0.71058	CTT	RNF38	-	NULL	ENSG00000137075		0.423	RNF38-001	KNOWN	basic|CCDS	protein_coding	RNF38	HGNC	protein_coding	OTTHUMT00000052422.3	353	0.00	0	G	NM_022781		36353283	36353283	-1	no_errors	ENST00000259605	ensembl	human	known	69_37n	missense	251	38.48	157	SNP	1.000	A
RNF43	54894	genome.wustl.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											64.0	77.0	72.0					17																	56435161		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G659fs	ENST00000584437.1	37	c.1976	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	149	0.00	0	C	NM_017763		56435161	56435161	-1	no_errors	ENST00000407977	ensembl	human	known	69_37n	frame_shift_del	255	10.14	29	DEL	0.900	-
RNFT1	51136	genome.wustl.edu	37	17	58040604	58040604	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:58040604T>C	ENST00000305783.8	-	2	153	c.98A>G	c.(97-99)aAg>aGg	p.K33R	RNFT1_ENST00000442346.2_5'UTR|RP11-178C3.2_ENST00000586209.1_lincRNA|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	33						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CCTTAAATACTTTTTCTCTGA	0.438																																						dbGAP											0													72.0	71.0	71.0					17																	58040604		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.98A>G	17.37:g.58040604T>C	ENSP00000304670:p.Lys33Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K33R	ENST00000305783.8	37	c.98	CCDS11622.2	17	.	.	.	.	.	.	.	.	.	.	T	12.71	2.018577	0.35606	.	.	ENSG00000189050	ENST00000305783	T	0.46063	0.88	5.24	5.24	0.73138	.	0.255243	0.22917	U	0.054076	T	0.32675	0.0837	L	0.36672	1.1	0.80722	D	1	B;P;B	0.37330	0.447;0.59;0.18	B;B;B	0.36244	0.22;0.22;0.037	T	0.07443	-1.0772	10	0.15499	T	0.54	.	14.116	0.65154	0.0:0.0:0.0:1.0	.	33;33;33	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	R	33	ENSP00000304670:K33R	ENSP00000304670:K33R	K	-	2	0	RNFT1	55395386	0.539000	0.26402	0.017000	0.16124	0.032000	0.12392	1.069000	0.30641	1.959000	0.56917	0.482000	0.46254	AAG	RNFT1	-	NULL	ENSG00000189050		0.438	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT1	HGNC	protein_coding	OTTHUMT00000308958.1	68	0.00	0	T	NM_016125		58040604	58040604	-1	no_errors	ENST00000305783	ensembl	human	known	69_37n	missense	122	23.75	38	SNP	0.152	C
RP1L1	94137	genome.wustl.edu	37	8	10465065	10465065	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:10465065C>A	ENST00000382483.3	-	4	6766	c.6543G>T	c.(6541-6543)gaG>gaT	p.E2181D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2261	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTGGGGCCTCTACACCTT	0.607																																						dbGAP											0													168.0	183.0	178.0					8																	10465065		1884	4103	5987	-	-	-	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6543G>T	8.37:g.10465065C>A	ENSP00000371923:p.Glu2181Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E2181D	ENST00000382483.3	37	c.6543	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.210201	0.01555	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	2.25	-4.49	0.03504	.	.	.	.	.	T	0.03095	0.0091	N	0.14661	0.345	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.40683	-0.9550	9	0.14656	T	0.56	.	0.7617	0.01008	0.3747:0.2667:0.1592:0.1995	.	2181	A6NKC6	.	D	2181	ENSP00000371923:E2181D	ENSP00000371923:E2181D	E	-	3	2	RP1L1	10502475	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.843000	0.04350	-2.617000	0.00442	-0.687000	0.03738	GAG	RP1L1	-	NULL	ENSG00000183638		0.607	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	722	0.28	2	C			10465065	10465065	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	missense	356	37.63	216	SNP	0.000	A
RPLP0P2	113157	genome.wustl.edu	37	11	61404623	61404623	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:61404623G>A	ENST00000496593.1	+	0	1227					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		CCTGAGTGATGCGCAGCTGAT	0.542																																						dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404623G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.542	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	114	0.00	0	G	NR_002775		61404623	61404623	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	78	42.65	58	SNP	1.000	A
RPS6KA5	9252	genome.wustl.edu	37	14	91372562	91372562	+	Missense_Mutation	SNP	T	T	G	rs571679369		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:91372562T>G	ENST00000261991.3	-	8	1061	c.888A>C	c.(886-888)aaA>aaC	p.K296N	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.K296N|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.K217N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	296	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCTTGGGATCTTTCATCAAAA	0.378																																						dbGAP											0													117.0	108.0	111.0					14																	91372562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.888A>C	14.37:g.91372562T>G	ENSP00000261991:p.Lys296Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.K296N	ENST00000261991.3	37	c.888	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961336	0.74016	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.60040	0.22;0.22;0.22	5.33	1.73	0.24493	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.85710	2.77	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.73603	-0.3930	10	0.87932	D	0	.	8.1222	0.30978	0.0:0.2993:0.0:0.7007	.	296;296	O75582-2;O75582	.;KS6A5_HUMAN	N	296;217;296	ENSP00000261991:K296N;ENSP00000442803:K217N;ENSP00000402787:K296N	ENSP00000261991:K296N	K	-	3	2	RPS6KA5	90442315	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.574000	0.36482	0.427000	0.26145	-0.361000	0.07541	AAA	RPS6KA5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	ENSG00000100784		0.378	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	219	0.00	0	T	NM_004755		91372562	91372562	-1	no_errors	ENST00000261991	ensembl	human	known	69_37n	missense	184	33.81	94	SNP	1.000	G
RPS8	6202	genome.wustl.edu	37	1	45243287	45243287	+	Splice_Site	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:45243287T>G	ENST00000396651.3	+	4	373	c.213T>G	c.(211-213)tgT>tgG	p.C71W	RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000372209.3_Splice_Site_p.G51G|RPS8_ENST00000485390.1_3'UTR|SNORD55_ENST00000581525.1_RNA|SNORD46_ENST00000364043.1_RNA|SNORD38B_ENST00000384690.1_RNA|SNORD38A_ENST00000365161.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					TGTGAGCAGGTTGTACTCGTA	0.473																																						dbGAP											0													106.0	85.0	92.0					1																	45243287		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.212-1T>G	1.37:g.45243287T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P09058|Q6IRL7	Missense_Mutation	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e	p.C71W	ENST00000396651.3	37	c.213	CCDS513.1	1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626376	0.66901	.	.	ENSG00000142937	ENST00000396651	T	0.29917	1.55	4.79	1.19	0.21007	.	0.098777	0.64402	D	0.000001	T	0.42562	0.1208	M	0.66939	2.045	0.80722	D	1	P	0.52316	0.952	P	0.58520	0.84	T	0.28554	-1.0040	10	0.72032	D	0.01	.	6.9139	0.24349	0.0:0.3687:0.0:0.6313	.	71	P62241	RS8_HUMAN	W	71	ENSP00000379888:C71W	ENSP00000379888:C71W	C	+	3	2	RPS8	45015874	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.401000	0.34589	0.354000	0.24105	0.533000	0.62120	TGT	RPS8	-	pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e	ENSG00000142937		0.473	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS8	HGNC	protein_coding	OTTHUMT00000023439.1	172	0.00	0	T	NM_001012	Missense_Mutation	45243287	45243287	+1	no_errors	ENST00000396651	ensembl	human	known	69_37n	missense	112	38.12	69	SNP	1.000	G
RPTOR	57521	genome.wustl.edu	37	17	78820339	78820339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:78820339C>T	ENST00000306801.3	+	11	1641	c.1279C>T	c.(1279-1281)Cga>Tga	p.R427*	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Nonsense_Mutation_p.R427*|RPTOR_ENST00000537330.1_Nonsense_Mutation_p.R242*	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	427					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGTGGAGAACCGAAACCCACC	0.612																																						dbGAP											0													156.0	122.0	133.0					17																	78820339		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1279C>T	17.37:g.78820339C>T	ENSP00000307272:p.Arg427*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Nonsense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.R427*	ENST00000306801.3	37	c.1279	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	48	14.089008	0.99779	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	.	.	.	4.92	-0.792	0.10925	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4581	0.75330	0.346:0.654:0.0:0.0	.	.	.	.	X	242;427;427	.	ENSP00000307272:R427X	R	+	1	2	RPTOR	76434934	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	2.013000	0.40942	-0.101000	0.12219	0.467000	0.42956	CGA	RPTOR	-	superfamily_ARM-type_fold,prints_Raptor	ENSG00000141564		0.612	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	115	0.00	0	C	NM_020761		78820339	78820339	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	nonsense	216	15.95	41	SNP	1.000	T
RRN3	54700	genome.wustl.edu	37	16	15157141	15157141	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:15157141C>A	ENST00000198767.6	-	17	1790		c.e17-1		PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000540462.1_Splice_Site|RRN3_ENST00000563559.1_Splice_Site|RRN3_ENST00000429751.2_Splice_Site|RRN3_ENST00000327307.7_Splice_Site	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)						cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TTTCTTTGACCTGTCAACAAA	0.373																																						dbGAP											0													96.0	94.0	94.0					16																	15157141		2197	4299	6496	-	-	-	SO:0001630	splice_region_variant	0			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1707-1G>T	16.37:g.15157141C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Splice_Site	SNP	-	e17-1	ENST00000198767.6	37	c.1707-1	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	.	22.9	4.347879	0.82022	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRN3	15064642	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	6.548000	0.73896	2.885000	0.99019	0.643000	0.83706	.	RRN3	-	-	ENSG00000085721		0.373	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	274	0.00	0	C	NM_018427	Intron	15157141	15157141	-1	no_errors	ENST00000198767	ensembl	human	known	69_37n	splice_site	175	34.94	94	SNP	1.000	A
RRN3	54700	genome.wustl.edu	37	16	15162055	15162055	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:15162055T>C	ENST00000198767.6	-	15	1607	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000540462.1_Silent_p.S326S|RRN3_ENST00000563559.1_Silent_p.S508S|RRN3_ENST00000429751.2_Silent_p.S478S|RRN3_ENST00000327307.7_Silent_p.S475S	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	508	Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						AGTTAACCACTGAGGGCAGGC	0.328																																						dbGAP											0													10.0	10.0	10.0					16																	15162055		2074	4181	6255	-	-	-	SO:0001819	synonymous_variant	0			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1524A>G	16.37:g.15162055T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Silent	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.S508	ENST00000198767.6	37	c.1524	CCDS10559.1	16																																																																																			RRN3	-	pfam_RNA_pol_I_trans_ini_fac_RRN3	ENSG00000085721		0.328	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	34	0.00	0	T	NM_018427		15162055	15162055	-1	no_errors	ENST00000198767	ensembl	human	known	69_37n	silent	23	36.11	13	SNP	0.000	C
RSPRY1	89970	genome.wustl.edu	37	16	57272810	57272810	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:57272810G>A	ENST00000537866.1	+	15	2527	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.A552T			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	552						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CATGGATTGTGCCTTGCAGCT	0.423																																						dbGAP											0													118.0	98.0	105.0					16																	57272810		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1654G>A	16.37:g.57272810G>A	ENSP00000443176:p.Ala552Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX21|Q8ND53	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.A552T	ENST00000537866.1	37	c.1654	CCDS10775.1	16	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829224	0.71258	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.68181	-0.31;-0.31	5.47	5.47	0.80525	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	M	0.72118	2.19	0.80722	D	1	D	0.54397	0.966	P	0.49561	0.615	T	0.77011	-0.2746	10	0.52906	T	0.07	.	19.3321	0.94295	0.0:0.0:1.0:0.0	.	552	Q96DX4	RSPRY_HUMAN	T	552	ENSP00000377942:A552T;ENSP00000443176:A552T	ENSP00000377942:A552T	A	+	1	0	RSPRY1	55830311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.402000	0.97298	2.581000	0.87130	0.655000	0.94253	GCC	RSPRY1	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000159579		0.423	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RSPRY1	HGNC	protein_coding	OTTHUMT00000432953.1	185	0.00	0	G	NM_133368		57272810	57272810	+1	no_errors	ENST00000394420	ensembl	human	known	69_37n	missense	137	35.07	74	SNP	1.000	A
RTL1	388015	genome.wustl.edu	37	14	101348856	101348856	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:101348856C>T	ENST00000534062.1	-	1	2328	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	757					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTTGTGATGGCGGAAGCGGAC	0.562																																						dbGAP											0													130.0	119.0	122.0					14																	101348856		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2270G>A	14.37:g.101348856C>T	ENSP00000435342:p.Arg757His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.R757H	ENST00000534062.1	37	c.2270	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489329	0.44249	.	.	ENSG00000254656	ENST00000534062	T	0.47177	0.85	3.44	3.44	0.39384	.	0.000000	0.31554	N	0.007445	T	0.67163	0.2864	M	0.80332	2.49	0.26853	N	0.968112	D	0.89917	1.0	D	0.71184	0.972	T	0.60616	-0.7228	10	0.59425	D	0.04	.	13.1984	0.59752	0.0:1.0:0.0:0.0	.	757	E9PKS8	.	H	757	ENSP00000435342:R757H	ENSP00000435342:R757H	R	-	2	0	RTL1	100418609	0.487000	0.25988	0.922000	0.36590	0.363000	0.29612	3.759000	0.55227	2.238000	0.73509	0.561000	0.74099	CGC	RTL1	-	NULL	ENSG00000254656		0.562	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	292	0.00	0	C	NM_001134888		101348856	101348856	-1	no_errors	ENST00000534062	ensembl	human	known	69_37n	missense	152	45.86	133	SNP	0.933	T
RUNX3	864	genome.wustl.edu	37	1	25228982	25228982	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:25228982G>A	ENST00000308873.6	-	5	887	c.879C>T	c.(877-879)agC>agT	p.S293S	RUNX3_ENST00000399916.1_Silent_p.S307S|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_Silent_p.S200S|RUNX3_ENST00000338888.3_Silent_p.S307S	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	293	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGCCACGCTGAGGCTGC	0.697																																						dbGAP											0													25.0	35.0	32.0					1																	25228982		2176	4262	6438	-	-	-	SO:0001819	synonymous_variant	0			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.879C>T	1.37:g.25228982G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJV5|Q12969|Q13760	Silent	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N	p.S307	ENST00000308873.6	37	c.921	CCDS257.1	1																																																																																			RUNX3	-	pirsf_TF_Runt-rel_RUNX	ENSG00000020633		0.697	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	HGNC	protein_coding	OTTHUMT00000009284.1	30	0.00	0	G	NM_004350		25228982	25228982	-1	no_errors	ENST00000338888	ensembl	human	known	69_37n	silent	21	45.00	18	SNP	0.997	A
RUSC1	23623	genome.wustl.edu	37	1	155294982	155294982	+	Intron	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155294982delG	ENST00000368352.5	+	4	1684				RUSC1_ENST00000368347.4_Intron|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000292254.4_Intron|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368349.4_Intron|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAAGGTGGCTGGGGGGAGGCT	0.612											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	66.0	63.0					1																	155294982		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1533+13G>-	1.37:g.155294982delG		Somatic	1769	WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	DEL	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1	-	-	ENSG00000160753		0.612	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	151	0.00	0	G			155294982	155294982	+1	no_errors	ENST00000462780	ensembl	human	known	69_37n	rna	257	12.75	38	DEL	0.001	-
RUSC1	23623	genome.wustl.edu	37	1	155290920	155290920	+	Intron	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155290920A>T	ENST00000368352.5	+	1	65				RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368354.3_Intron|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAGAGAATGGACATACCGCTG	0.627																																						dbGAP											0													71.0	90.0	84.0					1																	155290920		2099	4228	6327	-	-	-	SO:0001627	intron_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-87+138A>T	1.37:g.155290920A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1-AS1	-	-	ENSG00000225855		0.627	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1-AS1	HGNC	protein_coding	OTTHUMT00000039071.1	298	0.00	0	A			155290920	155290920	-1	no_errors	ENST00000450199	ensembl	human	known	69_37n	rna	515	16.08	100	SNP	0.340	T
RUSC1	23623	genome.wustl.edu	37	1	155296415	155296415	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155296415G>A	ENST00000368352.5	+	8	2057	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	RUSC1_ENST00000368347.4_Missense_Mutation_p.A226T|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000292254.4_Missense_Mutation_p.A167T|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368349.4_Missense_Mutation_p.A167T|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	636	Interaction with IKBKG.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TTTCTCCCTGGCCCGCGGTGG	0.602																																						dbGAP											0													78.0	71.0	73.0					1																	155296415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1906G>A	1.37:g.155296415G>A	ENSP00000357336:p.Ala636Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.A636T	ENST00000368352.5	37	c.1906	CCDS41410.1	1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627173	0.46944	.	.	ENSG00000160753	ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.27	4.27	0.50696	RUN (3);	0.481200	0.17466	N	0.173262	T	0.28134	0.0694	L	0.40543	1.245	0.37062	D	0.898133	D;D;D;D	0.60575	0.988;0.984;0.988;0.987	P;P;D;D	0.66716	0.899;0.878;0.946;0.93	T	0.23691	-1.0181	10	0.87932	D	0	-20.741	4.297	0.10906	0.1414:0.0:0.641:0.2177	.	134;167;226;636	B4DQB8;Q9BVN2-2;Q5T9V0;Q9BVN2	.;.;.;RUSC1_HUMAN	T	636;226;167;167	ENSP00000357336:A636T;ENSP00000357331:A226T;ENSP00000357333:A167T;ENSP00000292254:A167T	ENSP00000292254:A167T	A	+	1	0	RUSC1	153563039	0.999000	0.42202	0.992000	0.48379	0.032000	0.12392	0.877000	0.28106	2.367000	0.80283	0.591000	0.81541	GCC	RUSC1	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000160753		0.602	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	127	0.00	0	G			155296415	155296415	+1	no_errors	ENST00000368352	ensembl	human	known	69_37n	missense	189	18.57	44	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	38976361	38976361	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:38976361A>G	ENST00000359596.3	+	34	5066	c.5066A>G	c.(5065-5067)gAc>gGc	p.D1689G	RYR1_ENST00000360985.3_Missense_Mutation_p.D1689G|RYR1_ENST00000355481.4_Missense_Mutation_p.D1689G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1689	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCCACGTAGACCAAGCTCAG	0.662																																						dbGAP											0													49.0	48.0	49.0					19																	38976361		2203	4299	6502	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5066A>G	19.37:g.38976361A>G	ENSP00000352608:p.Asp1689Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.D1689G	ENST00000359596.3	37	c.5066	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062009	0.55432	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98192	-4.77;-4.77;-4.78	3.98	3.98	0.46160	.	0.000000	0.64402	U	0.000001	D	0.98337	0.9448	L	0.60957	1.885	0.45490	D	0.998454	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	D	0.98676	1.0690	10	0.56958	D	0.05	.	12.7127	0.57098	1.0:0.0:0.0:0.0	.	1689;1689	P21817-2;P21817	.;RYR1_HUMAN	G	1689	ENSP00000352608:D1689G;ENSP00000347667:D1689G;ENSP00000354254:D1689G	ENSP00000347667:D1689G	D	+	2	0	RYR1	43668201	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.045000	0.93812	1.666000	0.50821	0.477000	0.44152	GAC	RYR1	-	NULL	ENSG00000196218		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	25	0.00	0	A			38976361	38976361	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	12	53.85	14	SNP	1.000	G
RYR3	6263	genome.wustl.edu	37	15	34137183	34137183	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:34137183A>G	ENST00000389232.4	+	93	13487	c.13417A>G	c.(13417-13419)Atg>Gtg	p.M4473V	RYR3_ENST00000415757.3_Missense_Mutation_p.M4468V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4473					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACCGGGTATATGGCACCAAC	0.502																																						dbGAP											0													154.0	149.0	151.0					15																	34137183		2010	4180	6190	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13417A>G	15.37:g.34137183A>G	ENSP00000373884:p.Met4473Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.M4473V	ENST00000389232.4	37	c.13417	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001621	0.74818	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.96136	-3.92	5.24	5.24	0.73138	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.97480	0.9175	M	0.79614	2.46	0.52099	D	0.999945	P;D	0.61697	0.954;0.99	P;D	0.83275	0.876;0.996	D	0.97840	1.0268	10	0.56958	D	0.05	.	15.5966	0.76587	1.0:0.0:0.0:0.0	.	4468;4473	Q15413-2;Q15413	.;RYR3_HUMAN	V	4473;4469	ENSP00000373884:M4473V	ENSP00000354735:M4469V	M	+	1	0	RYR3	31924475	1.000000	0.71417	0.944000	0.38274	0.761000	0.43186	9.029000	0.93718	2.326000	0.78906	0.533000	0.62120	ATG	RYR3	-	pfam_Ryanrecept_TM4-6,superfamily_4_helix_cytokine-like_core	ENSG00000198838		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	324	0.00	0	A			34137183	34137183	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	209	35.49	115	SNP	1.000	G
S100A14	57402	genome.wustl.edu	37	1	153588378	153588378	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:153588378T>C	ENST00000368702.1	-	0	229				S100A16_ENST00000368706.4_5'Flank|S100A14_ENST00000368701.1_De_novo_Start_OutOfFrame|S100A16_ENST00000474991.1_5'Flank|S100A13_ENST00000491177.1_5'Flank|S100A14_ENST00000476873.1_De_novo_Start_OutOfFrame|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000344616.2_De_novo_Start_OutOfFrame			Q9HCY8	S10AE_HUMAN	S100 calcium binding protein A14						apoptotic process (GO:0006915)|calcium ion homeostasis (GO:0055074)|defense response to bacterium (GO:0042742)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)	extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|chemokine receptor binding (GO:0042379)			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTGTTGTCCTATAGCTGGCC	0.567																																						dbGAP											0													171.0	116.0	135.0					1																	153588378		2203	4299	6502	-	-	-			0			AY007220	CCDS1046.1	1q21.1	2008-02-05			ENSG00000189334	ENSG00000189334		"""S100 calcium binding proteins"""	18901	protein-coding gene	gene with protein product		607986				11944983	Standard	NM_020672		Approved	S100A15, BCMP84	uc001fce.3	Q9HCY8	OTTHUMG00000035030	ENST00000368702.1:c.-44A>G	1.37:g.153588378T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5RHT0	RNA	SNP	-	NULL	ENST00000368702.1	37	NULL	CCDS1046.1	1																																																																																			S100A14	-	-	ENSG00000189334		0.567	S100A14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A14	HGNC	protein_coding	OTTHUMT00000084788.2	204	0.00	0	T	NM_020672		153588378	153588378	-1	no_errors	ENST00000368700	ensembl	human	known	69_37n	rna	436	16.12	84	SNP	0.697	C
SACS	26278	genome.wustl.edu	37	13	23911836	23911836	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:23911836A>G	ENST00000382292.3	-	9	6452	c.6179T>C	c.(6178-6180)gTg>gCg	p.V2060A	SACS_ENST00000382298.3_Missense_Mutation_p.V2060A|SACS_ENST00000402364.1_Missense_Mutation_p.V1310A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2060					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)		TGGAAAAAACACTTCAGAAAA	0.333																																						dbGAP											0													27.0	29.0	29.0					13																	23911836		2196	4296	6492	-	-	-	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.6179T>C	13.37:g.23911836A>G	ENSP00000371729:p.Val2060Ala	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.V2060A	ENST00000382292.3	37	c.6179	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278659	0.59758	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88586	-2.26;-2.4;-2.26	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	L	0.39633	1.23	0.50813	D	0.999892	D	0.54207	0.965	P	0.50314	0.637	D	0.87709	0.2565	10	0.36615	T	0.2	.	16.0555	0.80801	1.0:0.0:0.0:0.0	.	2060	Q9NZJ4	SACS_HUMAN	A	2060;1310;2060	ENSP00000371729:V2060A;ENSP00000385844:V1310A;ENSP00000371735:V2060A	ENSP00000371729:V2060A	V	-	2	0	SACS	22809836	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.962000	0.93254	2.185000	0.69588	0.459000	0.35465	GTG	SACS	-	NULL	ENSG00000151835		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	37	0.00	0	A	NM_014363		23911836	23911836	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	26	32.50	13	SNP	1.000	G
SACS	26278	genome.wustl.edu	37	13	23912644	23912644	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:23912644C>T	ENST00000382292.3	-	9	5644	c.5371G>A	c.(5371-5373)Gct>Act	p.A1791T	SACS_ENST00000382298.3_Missense_Mutation_p.A1791T|SACS_ENST00000402364.1_Missense_Mutation_p.A1041T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1791					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)		TCAAAGAGAGCAGCTGGGTCA	0.433																																						dbGAP											0													125.0	124.0	125.0					13																	23912644		2203	4299	6502	-	-	-	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.5371G>A	13.37:g.23912644C>T	ENSP00000371729:p.Ala1791Thr	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.A1791T	ENST00000382292.3	37	c.5371	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	1.600	-0.526774	0.04141	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87412	-2.1;-2.25;-2.1	5.84	-3.77	0.04346	.	0.516289	0.21702	N	0.070404	T	0.69904	0.3163	N	0.22421	0.69	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.56920	-0.7899	10	0.12766	T	0.61	.	6.1651	0.20386	0.1923:0.3522:0.0:0.4555	.	1791	Q9NZJ4	SACS_HUMAN	T	1791;1041;1791	ENSP00000371729:A1791T;ENSP00000385844:A1041T;ENSP00000371735:A1791T	ENSP00000371729:A1791T	A	-	1	0	SACS	22810644	0.001000	0.12720	0.018000	0.16275	0.076000	0.17211	-0.716000	0.04991	-0.961000	0.03609	-0.140000	0.14226	GCT	SACS	-	NULL	ENSG00000151835		0.433	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	257	0.00	0	C	NM_014363		23912644	23912644	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	186	34.74	99	SNP	0.095	T
SAE1	10055	genome.wustl.edu	37	19	47706960	47706960	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:47706960C>T	ENST00000270225.7	+	8	979	c.911C>T	c.(910-912)gCg>gTg	p.A304V	SAE1_ENST00000413379.3_Intron|SAE1_ENST00000598840.1_Missense_Mutation_p.A223V|SAE1_ENST00000540850.1_Missense_Mutation_p.A130V|SAE1_ENST00000392776.3_Missense_Mutation_p.R256W	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	304					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CCAGTGTGTGCGGTGGTTGGA	0.458																																						dbGAP											0													217.0	195.0	202.0					19																	47706960		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.911C>T	19.37:g.47706960C>T	ENSP00000270225:p.Ala304Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.A304V	ENST00000270225.7	37	c.911	CCDS12696.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.280283|5.280283	0.95489|0.95489	.|.	.|.	ENSG00000142230|ENSG00000142230	ENST00000270225;ENST00000540850|ENST00000392776	T;T|T	0.63417|0.74947	-0.04;-0.04|-0.89	5.96|5.96	5.96|5.96	0.96718|0.96718	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77705|0.77705	0.4170|0.4170	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.44281	0.996;1.0|0.831	P;P|B	0.48982|0.36186	0.468;0.597|0.219	T|T	0.82571|0.82571	-0.0391|-0.0391	10|9	0.87932|0.72032	D|D	0|0.01	.|.	19.1685|19.1685	0.93567|0.93567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	130;304|256	B4DY66;Q9UBE0|F5GXX7	.;SAE1_HUMAN|.	V|W	304;130|256	ENSP00000270225:A304V;ENSP00000440955:A130V|ENSP00000440818:R256W	ENSP00000270225:A304V|ENSP00000440818:R256W	A|R	+|+	2|1	0|2	SAE1|SAE1	52398800|52398800	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.918000|0.918000	0.54935|0.54935	6.364000|6.364000	0.73086|0.73086	2.830000|2.830000	0.97506|0.97506	0.655000|0.655000	0.94253|0.94253	GCG|CGG	SAE1	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000142230		0.458	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1	628	0.00	0	C	NM_005500		47706960	47706960	+1	no_errors	ENST00000270225	ensembl	human	known	69_37n	missense	430	40.39	292	SNP	0.999	T
SAG	6295	genome.wustl.edu	37	2	234229296	234229296	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:234229296G>A	ENST00000409110.1	+	5	432	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	68					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCTGACCTGCGCCTTCCGCTA	0.622																																						dbGAP											0													31.0	34.0	33.0					2																	234229296		2148	4275	6423	-	-	-	SO:0001583	missense	0				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.202G>A	2.37:g.234229296G>A	ENSP00000386444:p.Ala68Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A68T	ENST00000409110.1	37	c.202	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370746	0.61624	.	.	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110	T;T	0.29917	1.55;1.55	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.107457	0.64402	D	0.000005	T	0.44932	0.1317	L	0.41961	1.31	0.80722	D	1	D	0.76494	0.999	P	0.60949	0.881	T	0.32824	-0.9892	10	0.44086	T	0.13	-28.8812	17.7003	0.88292	0.0:0.0:1.0:0.0	.	68	P10523	ARRS_HUMAN	T	68	ENSP00000408937:A68T;ENSP00000386444:A68T	ENSP00000252857:A68T	A	+	1	0	SAG	233894035	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.434000	0.52841	2.474000	0.83562	0.655000	0.94253	GCC	SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000130561		0.622	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	94	0.00	0	G	NM_000541		234229296	234229296	+1	no_errors	ENST00000409110	ensembl	human	known	69_37n	missense	79	29.92	38	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51185093	51185093	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:51185093C>T	ENST00000251020.4	-	1	93	c.60G>A	c.(58-60)tcG>tcA	p.S20S	SALL1_ENST00000541611.1_5'UTR|SALL1_ENST00000566102.1_Silent_p.S20S|SALL1_ENST00000440970.1_5'Flank|SALL1_ENST00000562674.1_5'UTR|AC009166.5_ENST00000570060.1_RNA	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	20					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCCGGGGGAGCGAGGCCACTT	0.607																																					GBM(103;1352 1446 1855 4775 8890)	dbGAP											0													48.0	38.0	41.0					16																	51185093		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.60G>A	16.37:g.51185093C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S20	ENST00000251020.4	37	c.60	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.607	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	61	0.00	0	C	NM_002968		51185093	51185093	-1	no_errors	ENST00000251020	ensembl	human	known	69_37n	silent	45	33.82	23	SNP	1.000	T
SAMHD1	25939	genome.wustl.edu	37	20	35547873	35547873	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:35547873C>T	ENST00000262878.4	-	7	945	c.746G>A	c.(745-747)gGa>gAa	p.G249E	SAMHD1_ENST00000373694.5_Missense_Mutation_p.G34E	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	249	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGGCTTAATTCCATTAGAATT	0.368																																						dbGAP											0													102.0	95.0	97.0					20																	35547873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.746G>A	20.37:g.35547873C>T	ENSP00000262878:p.Gly249Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.G249E	ENST00000262878.4	37	c.746	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249917	0.22880	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.94497	-2.59;-3.44	5.82	1.78	0.24846	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.212473	0.47852	N	0.000219	T	0.81103	0.4753	N	0.03071	-0.42	0.23325	N	0.997909	B	0.11235	0.004	B	0.15052	0.012	T	0.67833	-0.5568	10	0.06891	T	0.86	-13.5479	8.3333	0.32200	0.0:0.5664:0.0:0.4336	.	249	Q9Y3Z3	SAMH1_HUMAN	E	249;34	ENSP00000262878:G249E;ENSP00000362798:G34E	ENSP00000262878:G249E	G	-	2	0	SAMHD1	34981287	0.000000	0.05858	0.957000	0.39632	0.919000	0.55068	0.145000	0.16157	0.377000	0.24735	0.557000	0.71058	GGA	SAMHD1	-	pfam_HD_domain,smart_HD/PDEase_dom	ENSG00000101347		0.368	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	HGNC	protein_coding	OTTHUMT00000079062.2	255	0.39	1	C	NM_015474		35547873	35547873	-1	no_errors	ENST00000262878	ensembl	human	known	69_37n	missense	187	37.87	114	SNP	0.285	T
SARM1	23098	genome.wustl.edu	37	17	26708464	26708464	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:26708464G>C	ENST00000457710.3	+	2	1082	c.611G>C	c.(610-612)gGc>gCc	p.G204A	TMEM199_ENST00000509083.1_Silent_p.G258G|SARM1_ENST00000379061.4_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	238					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCACGGGGGCCAGGCGGTG	0.726																																						dbGAP											0													5.0	5.0	5.0					17																	26708464		2076	4083	6159	-	-	-	SO:0001583	missense	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.611G>C	17.37:g.26708464G>C	ENSP00000406738:p.Gly204Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.G204A	ENST00000457710.3	37	c.611		17	.	.	.	.	.	.	.	.	.	.	G	31	5.066889	0.93898	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.22	5.22	0.72569	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83814	0.0243	8	0.52906	T	0.07	-14.7768	18.7937	0.91985	0.0:0.0:1.0:0.0	.	238	Q6SZW1	SARM1_HUMAN	A	236;204	.	ENSP00000003834:G204A	G	+	2	0	SARM1	23732591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.604000	0.98317	2.434000	0.82447	0.563000	0.77884	GGC	SARM1	-	superfamily_ARM-type_fold	ENSG00000004139		0.726	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	21	0.00	0	G	NM_015077		26708464	26708464	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	missense	17	26.09	6	SNP	1.000	C
SATB1	6304	genome.wustl.edu	37	3	18436303	18436303	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:18436303G>A	ENST00000338745.6	-	7	2591	c.857C>T	c.(856-858)gCg>gTg	p.A286V	SATB1_ENST00000454909.2_Missense_Mutation_p.A286V|SATB1_ENST00000475083.1_5'Flank|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A286V	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	286					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGAGAGCTGCGCAGGGGATGG	0.562																																						dbGAP											0													90.0	80.0	83.0					3																	18436303		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.857C>T	3.37:g.18436303G>A	ENSP00000341024:p.Ala286Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.A286V	ENST00000338745.6	37	c.857	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309758	0.23821	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	T;T;T	0.76316	-1.01;-1.01;-1.01	5.55	4.56	0.56223	.	0.441222	0.24625	N	0.036927	T	0.40423	0.1116	N	0.00707	-1.245	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.11329	0.006;0.001	T	0.47235	-0.9133	10	0.15066	T	0.55	-14.8357	3.5927	0.07994	0.3492:0.0:0.6508:0.0	.	286;286	Q01826-2;Q01826	.;SATB1_HUMAN	V	286	ENSP00000341024:A286V;ENSP00000399708:A286V;ENSP00000399518:A286V	ENSP00000341024:A286V	A	-	2	0	SATB1	18411307	1.000000	0.71417	0.503000	0.27626	0.689000	0.40095	4.273000	0.58914	2.619000	0.88677	0.655000	0.94253	GCG	SATB1	-	NULL	ENSG00000182568		0.562	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	246	0.00	0	G	NM_001131010		18436303	18436303	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	missense	183	31.48	85	SNP	0.733	A
SBF1	6305	genome.wustl.edu	37	22	50900047	50900047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:50900047delC	ENST00000390679.3	-	22	2928	c.2744delG	c.(2743-2745)ggcfs	p.G915fs	SBF1_ENST00000380817.3_Frame_Shift_Del_p.G915fs|SBF1_ENST00000348911.6_Frame_Shift_Del_p.G916fs			O95248	MTMR5_HUMAN	SET binding factor 1	915	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCACTGCCCCCCGCGCC	0.711																																						dbGAP											0													18.0	24.0	22.0					22																	50900047		2057	4164	6221	-	-	-	SO:0001589	frameshift_variant	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2744delG	22.37:g.50900047delC	ENSP00000375097:p.Gly915fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Frame_Shift_Del	DEL	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.G915fs	ENST00000390679.3	37	c.2744		22																																																																																			SBF1	-	pfam_GRAM,smart_GRAM	ENSG00000100241		0.711	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding		15	0.00	0	C			50900047	50900047	-1	no_errors	ENST00000380817	ensembl	human	known	69_37n	frame_shift_del	13	31.58	6	DEL	0.930	-
SBNO2	22904	genome.wustl.edu	37	19	1123591	1123591	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:1123591C>A	ENST00000361757.3	-	7	807	c.570G>T	c.(568-570)gaG>gaT	p.E190D	SBNO2_ENST00000438103.2_Missense_Mutation_p.E133D|SBNO2_ENST00000587024.1_Missense_Mutation_p.E190D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	190	Poly-Glu.				bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ccgcctcctcctcctcagcct	0.687																																						dbGAP											0													68.0	72.0	70.0					19																	1123591		2195	4286	6481	-	-	-	SO:0001583	missense	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.570G>T	19.37:g.1123591C>A	ENSP00000354733:p.Glu190Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.E190D	ENST00000361757.3	37	c.570	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601790	0.28534	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.98	-1.06	0.10002	.	0.207926	0.39407	U	0.001380	T	0.31327	0.0793	L	0.40543	1.245	0.38226	D	0.940906	B;B;B;B	0.18310	0.007;0.005;0.008;0.027	B;B;B;B	0.17722	0.006;0.004;0.006;0.019	T	0.04900	-1.0919	9	0.19147	T	0.46	-28.1945	1.6573	0.02784	0.1436:0.4445:0.1407:0.2711	.	133;190;190;133	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	D	190;133;196	.	ENSP00000250872:E196D	E	-	3	2	SBNO2	1074591	0.648000	0.27313	0.692000	0.30179	0.398000	0.30690	-0.271000	0.08572	0.271000	0.22005	0.549000	0.68633	GAG	SBNO2	-	NULL	ENSG00000064932		0.687	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	188	0.00	0	C	NM_014963		1123591	1123591	-1	no_errors	ENST00000361757	ensembl	human	known	69_37n	missense	109	38.76	69	SNP	0.972	A
ZBED9	114821	genome.wustl.edu	37	6	28540866	28540866	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:28540866delA	ENST00000452236.2	-	4	3417	c.2800delT	c.(2800-2802)tcafs	p.S934fs	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aaagaggctgaaaaaaagaac	0.318																																						dbGAP											0													43.0	38.0	40.0					6																	28540866		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000452236.2:c.2800delT	6.37:g.28540866delA	ENSP00000395259:p.Ser934fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S934fs	ENST00000452236.2	37	c.2800	CCDS34355.1	6																																																																																			SCAND3	-	superfamily_RNaseH-like_dom	ENSG00000232040		0.318	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	136	0.00	0	A			28540866	28540866	-1	no_errors	ENST00000452236	ensembl	human	known	69_37n	frame_shift_del	81	38.69	53	DEL	1.000	-
SCAPER	49855	genome.wustl.edu	37	15	77057327	77057327	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:77057327A>G	ENST00000563290.1	-	14	1795	c.1700T>C	c.(1699-1701)tTg>tCg	p.L567S	SCAPER_ENST00000324767.7_Missense_Mutation_p.L567S|SCAPER_ENST00000538941.2_Missense_Mutation_p.L321S			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	567	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTGAAGCTTCAATGTTTTCTC	0.333																																						dbGAP											0													91.0	78.0	82.0					15																	77057327		1797	4058	5855	-	-	-	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1700T>C	15.37:g.77057327A>G	ENSP00000454973:p.Leu567Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.L567S	ENST00000563290.1	37	c.1700	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	A	16.04	3.011006	0.54361	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22945	1.94;1.93	5.76	5.76	0.90799	.	0.126194	0.52532	D	0.000065	T	0.16811	0.0404	N	0.08118	0	0.37094	D	0.89958	P;B	0.39404	0.672;0.149	B;B	0.43225	0.412;0.134	T	0.14587	-1.0467	10	0.09338	T	0.73	.	16.0785	0.80982	1.0:0.0:0.0:0.0	.	588;321	Q9BY12-2;F5H7X8	.;.	S	567;321;589	ENSP00000326924:L567S;ENSP00000442190:L321S	ENSP00000303560:L589S	L	-	2	0	SCAPER	74844382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.496000	0.66918	2.200000	0.70718	0.379000	0.24179	TTG	SCAPER	-	NULL	ENSG00000140386		0.333	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	315	0.00	0	A	NM_020843		77057327	77057327	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	missense	252	33.51	127	SNP	1.000	G
SCARA5	286133	genome.wustl.edu	37	8	27767201	27767201	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:27767201G>T	ENST00000354914.3	-	5	1461	c.976C>A	c.(976-978)Cct>Act	p.P326T	SCARA5_ENST00000518030.1_Missense_Mutation_p.P283T|SCARA5_ENST00000524352.1_Missense_Mutation_p.P326T|SCARA5_ENST00000380385.2_Missense_Mutation_p.P101T|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000301906.4_Missense_Mutation_p.P283T	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	326	Collagen-like.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGCAATCCAGGGATGCCAGGC	0.557																																						dbGAP											0													98.0	65.0	76.0					8																	27767201		2107	4075	6182	-	-	-	SO:0001583	missense	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.976C>A	8.37:g.27767201G>T	ENSP00000346990:p.Pro326Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.P326T	ENST00000354914.3	37	c.976	CCDS6064.1	8	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207174	0.39003	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	4.99	4.12	0.48240	.	0.249770	0.40908	D	0.000985	D	0.88429	0.6434	M	0.67625	2.065	0.34383	D	0.6933	B;P;P;D	0.89917	0.419;0.705;0.705;1.0	B;B;B;D	0.91635	0.144;0.439;0.439;0.999	D	0.91025	0.4860	10	0.56958	D	0.05	.	9.4221	0.38557	0.0987:0.0:0.9013:0.0	.	101;326;283;326	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;.;SCAR5_HUMAN	T	326;101;126;326;283;283	ENSP00000346990:P326T;ENSP00000369746:P101T;ENSP00000428663:P326T;ENSP00000430713:P283T;ENSP00000301906:P283T	ENSP00000301906:P283T	P	-	1	0	SCARA5	27823120	0.998000	0.40836	0.954000	0.39281	0.838000	0.47535	3.519000	0.53458	1.237000	0.43756	0.561000	0.74099	CCT	SCARA5	-	pfam_Collagen	ENSG00000168079		0.557	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2	173	0.00	0	G	NM_173833		27767201	27767201	-1	no_errors	ENST00000354914	ensembl	human	known	69_37n	missense	120	36.84	70	SNP	0.938	T
SCN1A	6323	genome.wustl.edu	37	2	166848778	166848778	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:166848778C>T	ENST00000303395.4	-	26	5006	c.5007G>A	c.(5005-5007)gcG>gcA	p.A1669A	SCN1A_ENST00000409050.1_Silent_p.A1641A|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.A1658A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.A1669A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1669					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTAAACAACGCAGGAAGGG	0.493																																						dbGAP											0													143.0	133.0	137.0					2																	166848778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5007G>A	2.37:g.166848778C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.A1669	ENST00000303395.4	37	c.5007	CCDS54413.1	2																																																																																			SCN1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000144285		0.493	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	691	0.14	1	C	NM_006920		166848778	166848778	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	silent	432	33.74	220	SNP	0.000	T
SCN4A	6329	genome.wustl.edu	37	17	62019085	62019085	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:62019085G>A	ENST00000435607.1	-	24	4633	c.4557C>T	c.(4555-4557)ttC>ttT	p.F1519F	SCN4A_ENST00000578147.1_Silent_p.F1519F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1519					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.F1519F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAAGGTCTCGAAGTTGAACA	0.567																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											115.0	110.0	112.0					17																	62019085		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4557C>T	17.37:g.62019085G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F1519	ENST00000435607.1	37	c.4557	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000007314		0.567	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		339	0.00	0	G	NM_000334		62019085	62019085	-1	no_errors	ENST00000435607	ensembl	human	known	69_37n	silent	498	16.42	98	SNP	0.951	A
SCN4A	6329	genome.wustl.edu	37	17	62020328	62020328	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:62020328C>T	ENST00000435607.1	-	23	4222	c.4146G>A	c.(4144-4146)gtG>gtA	p.V1382V	SCN4A_ENST00000578147.1_Silent_p.V1382V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1382					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGGATGTCCACCTTGAGCT	0.522																																						dbGAP											0													241.0	223.0	229.0					17																	62020328		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4146G>A	17.37:g.62020328C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V1382	ENST00000435607.1	37	c.4146	CCDS45761.1	17																																																																																			SCN4A	-	NULL	ENSG00000007314		0.522	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		449	0.00	0	C	NM_000334		62020328	62020328	-1	no_errors	ENST00000435607	ensembl	human	known	69_37n	silent	784	15.39	143	SNP	1.000	T
SCN5A	6331	genome.wustl.edu	37	3	38616941	38616941	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:38616941G>T	ENST00000333535.4	-	20	3662	c.3513C>A	c.(3511-3513)ggC>ggA	p.G1171G	SCN5A_ENST00000449557.2_Splice_Site_p.G1117G|SCN5A_ENST00000451551.2_Splice_Site_p.G1117G|SCN5A_ENST00000413689.1_Splice_Site_p.G1171G|SCN5A_ENST00000443581.1_Splice_Site_p.G1170G|SCN5A_ENST00000414099.2_Splice_Site_p.G1171G|SCN5A_ENST00000425664.1_Splice_Site_p.G1171G|SCN5A_ENST00000450102.2_Splice_Site_p.G1117G|SCN5A_ENST00000455624.2_Splice_Site_p.G1170G|SCN5A_ENST00000423572.2_Splice_Site_p.G1170G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1171					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGGACACAGCCTATGGGAG	0.592																																						dbGAP											0													19.0	22.0	21.0					3																	38616941		2190	4291	6481	-	-	-	SO:0001630	splice_region_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3512-1C>A	3.37:g.38616941G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.G1171	ENST00000333535.4	37	c.3513	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Na_trans_assoc	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	54	0.00	0	G	NM_198056	Silent	38616941	38616941	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	silent	18	48.57	17	SNP	1.000	T
SCNN1A	6337	genome.wustl.edu	37	12	6457217	6457217	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:6457217G>A	ENST00000228916.2	-	13	1930	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	SCNN1A_ENST00000543768.1_Missense_Mutation_p.S634F|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000358945.3_Missense_Mutation_p.S633F|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S311F|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S670F	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	611					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	aggaggggaggatgccagggt	0.642																																						dbGAP											0													38.0	35.0	36.0					12																	6457217		2202	4300	6502	-	-	-	SO:0001583	missense	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1832C>T	12.37:g.6457217G>A	ENSP00000228916:p.Ser611Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S633F	ENST00000228916.2	37	c.1898	CCDS8543.1	12	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047563	0.55110	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.70516	-0.46;-0.49;-0.28;-0.44;-0.45	4.38	4.38	0.52667	.	0.675525	0.13604	N	0.375625	T	0.73369	0.3578	M	0.62723	1.935	0.09310	N	1	P;P;D	0.54964	0.877;0.8;0.969	B;B;P	0.51135	0.365;0.365;0.66	T	0.63915	-0.6529	10	0.12103	T	0.63	-13.0226	14.4439	0.67338	0.0:0.0:1.0:0.0	.	634;611;670	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	F	670;633;311;611;634	ENSP00000353292:S670F;ENSP00000351825:S633F;ENSP00000440876:S311F;ENSP00000228916:S611F;ENSP00000438739:S634F	ENSP00000228916:S611F	S	-	2	0	SCNN1A	6327478	0.982000	0.34865	0.164000	0.22755	0.005000	0.04900	4.810000	0.62598	2.003000	0.58678	0.555000	0.69702	TCC	SCNN1A	-	NULL	ENSG00000111319		0.642	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1	45	0.00	0	G			6457217	6457217	-1	no_errors	ENST00000358945	ensembl	human	known	69_37n	missense	31	35.42	17	SNP	0.098	A
SCNN1B	6338	genome.wustl.edu	37	16	23391803	23391803	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:23391803T>G	ENST00000343070.2	+	13	1780	c.1604T>G	c.(1603-1605)cTg>cGg	p.L535R	SCNN1B_ENST00000307331.5_Missense_Mutation_p.L580R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L508R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.L499R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	535					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTCTGTGCTGTGCCTCATC	0.597																																						dbGAP											0													151.0	150.0	150.0					16																	23391803		2197	4300	6497	-	-	-	SO:0001583	missense	0			X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1604T>G	16.37:g.23391803T>G	ENSP00000345751:p.Leu535Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L580R	ENST00000343070.2	37	c.1739	CCDS10609.1	16	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936341	0.73442	.	.	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.76186	-1.0;-1.0	4.85	4.85	0.62838	.	0.000000	0.52532	D	0.000068	D	0.87245	0.6129	M	0.87180	2.865	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.89532	0.3786	10	0.87932	D	0	-8.1417	13.6448	0.62275	0.0:0.0:0.0:1.0	.	535	P51168	SCNNB_HUMAN	R	535;580	ENSP00000345751:L535R;ENSP00000302874:L580R	ENSP00000302874:L580R	L	+	2	0	SCNN1B	23299304	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.906000	0.69900	1.811000	0.52892	0.523000	0.50628	CTG	SCNN1B	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000168447		0.597	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1B	HGNC	protein_coding	OTTHUMT00000254495.2	144	0.00	0	T			23391803	23391803	+1	no_errors	ENST00000307331	ensembl	human	known	69_37n	missense	84	35.88	47	SNP	1.000	G
SCRIB	23513	genome.wustl.edu	37	8	144885935	144885935	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:144885935C>T	ENST00000320476.3	-	23	3302	c.3296G>A	c.(3295-3297)cGg>cAg	p.R1099Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.R1018Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.R1099Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1099	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCACAGTTCCCGTAGGCCCGG	0.711																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													13.0	16.0	15.0					8																	144885935		2186	4285	6471	-	-	-	SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3296G>A	8.37:g.144885935C>T	ENSP00000322938:p.Arg1099Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R1099Q	ENST00000320476.3	37	c.3296	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393826	0.11638	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.35789	1.51;1.48;1.29	4.52	2.25	0.28309	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.11580	0.0282	N	0.03608	-0.345	0.24883	N	0.992213	B;B	0.24823	0.068;0.112	B;B	0.15484	0.006;0.013	T	0.32241	-0.9914	9	0.02654	T	1	.	4.6913	0.12783	0.0:0.3813:0.0:0.6187	.	1099;1099	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	1099;1099;1018;468	ENSP00000349486:R1099Q;ENSP00000322938:R1099Q;ENSP00000366756:R1018Q	ENSP00000322938:R1099Q	R	-	2	0	SCRIB	144957923	1.000000	0.71417	0.938000	0.37757	0.686000	0.39977	3.292000	0.51772	0.400000	0.25396	0.456000	0.33151	CGG	SCRIB	-	superfamily_PDZ	ENSG00000180900		0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	9	0.00	0	C	NM_015356		144885935	144885935	-1	no_errors	ENST00000320476	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	T
SCRN2	90507	genome.wustl.edu	37	17	45917585	45917585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:45917585delC	ENST00000290216.9	-	3	453	c.328delG	c.(328-330)gaafs	p.E110fs	SCRN2_ENST00000584123.1_Frame_Shift_Del_p.E118fs|SCRN2_ENST00000407215.3_Frame_Shift_Del_p.E110fs	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	110						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						AGCAGGGCTTCCCCCTCCCCA	0.607																																						dbGAP											0													113.0	97.0	103.0					17																	45917585		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.328delG	17.37:g.45917585delC	ENSP00000290216:p.Glu110fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Frame_Shift_Del	DEL	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.E110fs	ENST00000290216.9	37	c.328	CCDS11519.1	17																																																																																			SCRN2	-	pfam_Peptidase_C69,pfam_Pept_C45_AAT	ENSG00000141295		0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	134	0.00	0	C	NM_138355		45917585	45917585	-1	no_errors	ENST00000290216	ensembl	human	known	69_37n	frame_shift_del	82	39.86	55	DEL	1.000	-
SCYL3	57147	genome.wustl.edu	37	1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:169845143_169845146delACAA	ENST00000367770.1	-	3	485_488	c.438_441delTTGT	c.(436-441)gtttgtfs	p.VC146fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000367771.6_Frame_Shift_Del_p.VC146fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.438_441delTTGT	1.37:g.169845143_169845146delACAA	ENSP00000356744:p.Val146fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.C147fs	ENST00000367770.1	37	c.441_438	CCDS1287.1	1																																																																																			SCYL3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000000457		0.441	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	311	0.00	0	ACAA	NM_181093		169845143	169845146	-1	no_errors	ENST00000367770	ensembl	human	known	69_37n	frame_shift_del	683	13.02	103	DEL	0.000:0.972:0.970:0.500	-
SDC3	9672	genome.wustl.edu	37	1	31350004	31350004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:31350004G>A	ENST00000339394.6	-	3	439	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_Nonsense_Mutation_p.Q31*	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	89					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|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)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGACTCCTGCTCGAAGTCT	0.612																																						dbGAP											0													17.0	19.0	18.0					1																	31350004		2198	4297	6495	-	-	-	SO:0001587	stop_gained	0			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.265C>T	1.37:g.31350004G>A	ENSP00000344468:p.Gln89*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Nonsense_Mutation	SNP	pfam_Syndecan,smart_Neurexin-like	p.Q89*	ENST00000339394.6	37	c.265	CCDS30661.1	1	.	.	.	.	.	.	.	.	.	.	G	49	15.344533	0.99831	.	.	ENSG00000162512	ENST00000336798;ENST00000339394	.	.	.	4.7	4.7	0.59300	.	0.116849	0.38436	N	0.001692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0355	17.6504	0.88162	0.0:0.0:1.0:0.0	.	.	.	.	X	31;89	.	ENSP00000338346:Q31X	Q	-	1	0	SDC3	31122591	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.289000	0.59013	2.173000	0.68751	0.313000	0.20887	CAG	SDC3	-	pfam_Syndecan	ENSG00000162512		0.612	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC3	HGNC	protein_coding	OTTHUMT00000102017.1	43	0.00	0	G	NM_014654		31350004	31350004	-1	no_errors	ENST00000339394	ensembl	human	known	69_37n	nonsense	15	46.43	13	SNP	1.000	A
SDC4	6385	genome.wustl.edu	37	20	43964515	43964515	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:43964515G>A	ENST00000372733.3	-	2	145	c.106C>T	c.(106-108)Cga>Tga	p.R36*	SDC4_ENST00000537976.1_Intron	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	36					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				GAGAAGTATCGGCCTTCTAGG	0.552			T	ROS1	NSCLC																																	dbGAP		Dom	yes		20	20q12	6385	syndecan 4		E	0													68.0	63.0	65.0					20																	43964515		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.106C>T	20.37:g.43964515G>A	ENSP00000361818:p.Arg36*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00773|Q16833|Q53FN9|Q6FGN3	Nonsense_Mutation	SNP	pfam_Syndecan,smart_Neurexin-like	p.R36*	ENST00000372733.3	37	c.106	CCDS13350.1	20	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056006	0.76074	.	.	ENSG00000124145	ENST00000372733	.	.	.	4.79	1.37	0.22104	.	0.602744	0.16677	N	0.204118	.	.	.	.	.	.	0.29780	N	0.834087	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.7809	6.6911	0.23171	0.0:0.1689:0.4581:0.373	.	.	.	.	X	36	.	ENSP00000361818:R36X	R	-	1	2	SDC4	43397929	0.019000	0.18553	0.940000	0.37924	0.730000	0.41778	0.873000	0.28052	0.495000	0.27882	0.561000	0.74099	CGA	SDC4	-	NULL	ENSG00000124145		0.552	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC4	HGNC	protein_coding	OTTHUMT00000080515.1	138	0.00	0	G	NM_002999		43964515	43964515	-1	no_errors	ENST00000372733	ensembl	human	known	69_37n	nonsense	95	34.03	49	SNP	0.521	A
SDCCAG8	10806	genome.wustl.edu	37	1	243507632	243507632	+	Splice_Site	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:243507632A>G	ENST00000366541.3	+	12	1590	c.1472A>G	c.(1471-1473)cAg>cGg	p.Q491R	SDCCAG8_ENST00000355875.4_Splice_Site_p.Q448R|SDCCAG8_ENST00000343783.6_Splice_Site_p.Q346R|MIR4677_ENST00000584153.1_RNA	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	491	Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATTAAAGATCAGGTAAGAGAG	0.348																																						dbGAP											0													89.0	85.0	86.0					1																	243507632		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1473+1A>G	1.37:g.243507632A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	NULL	p.Q491R	ENST00000366541.3	37	c.1472	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.601604	0.66445	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.56611	0.7;0.65;0.66;0.45	6.07	6.07	0.98685	.	0.129373	0.52532	D	0.000063	T	0.42314	0.1197	L	0.29908	0.895	0.53005	D	0.999962	P;P	0.42692	0.675;0.787	B;B	0.38428	0.273;0.273	T	0.28459	-1.0043	10	0.28530	T	0.3	-7.4048	16.635	0.85050	1.0:0.0:0.0:0.0	.	448;491	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	R	448;491;346;271	ENSP00000348137:Q448R;ENSP00000355499:Q491R;ENSP00000341260:Q346R;ENSP00000410200:Q271R	ENSP00000341260:Q346R	Q	+	2	0	SDCCAG8	241574255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.846000	0.75399	2.330000	0.79161	0.477000	0.44152	CAG	SDCCAG8	-	NULL	ENSG00000054282		0.348	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	348	0.57	2	A	NM_006642	Missense_Mutation	243507632	243507632	+1	no_errors	ENST00000366541	ensembl	human	known	69_37n	missense	640	16.99	131	SNP	1.000	G
SDK2	54549	genome.wustl.edu	37	17	71397224	71397224	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:71397224G>A	ENST00000392650.3	-	21	2906	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	SDK2_ENST00000388726.3_Missense_Mutation_p.A969V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	969	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGTCATGGCGGCCACCTCGAT	0.622																																						dbGAP											0													57.0	44.0	48.0					17																	71397224		2200	4282	6482	-	-	-	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2906C>T	17.37:g.71397224G>A	ENSP00000376421:p.Ala969Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A969V	ENST00000392650.3	37	c.2906	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963789	0.74131	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57752	0.38;0.38;0.58	4.82	4.82	0.62117	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.74881	2.28	0.80722	D	1	B;B;B	0.22276	0.027;0.067;0.055	B;B;B	0.24848	0.033;0.056;0.033	T	0.55598	-0.8116	10	0.30078	T	0.28	.	17.9324	0.89002	0.0:0.0:1.0:0.0	.	969;969;969	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	V	593;969;969;145;969	ENSP00000376421:A969V;ENSP00000373378:A969V;ENSP00000407098:A145V	ENSP00000324967:A969V	A	-	2	0	SDK2	68908819	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.829000	0.86735	2.238000	0.73509	0.561000	0.74099	GCC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	166	0.00	0	G	NM_019064		71397224	71397224	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	265	19.15	63	SNP	1.000	A
SEC14L1	6397	genome.wustl.edu	37	17	75190772	75190772	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:75190772T>C	ENST00000413679.2	+	7	791	c.488T>C	c.(487-489)aTc>aCc	p.I163T	SEC14L1_ENST00000436233.4_Missense_Mutation_p.I163T|SEC14L1_ENST00000430767.4_Missense_Mutation_p.I163T|SEC14L1_ENST00000585618.1_Missense_Mutation_p.I163T|SEC14L1_ENST00000591437.1_Missense_Mutation_p.I129T|SEC14L1_ENST00000443798.4_Missense_Mutation_p.I163T|SEC14L1_ENST00000431431.2_Missense_Mutation_p.I129T|SEC14L1_ENST00000392476.2_Missense_Mutation_p.I163T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	163	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGGAAATCATCGAATACTAC	0.388																																						dbGAP											0													73.0	70.0	71.0					17																	75190772		2203	4300	6503	-	-	-	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.488T>C	17.37:g.75190772T>C	ENSP00000394716:p.Ile163Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.I163T	ENST00000413679.2	37	c.488	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132158	0.77662	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.49	5.49	0.81192	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.87547	2.89	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.982;0.99	T	0.60875	-0.7176	10	0.87932	D	0	-26.5113	14.7541	0.69549	0.0:0.0:0.0:1.0	.	163;163	Q92503-2;Q92503	.;S14L1_HUMAN	T	163;163;163;163;163;129	ENSP00000376268:I163T;ENSP00000406030:I163T;ENSP00000390392:I163T;ENSP00000408169:I163T;ENSP00000394716:I163T;ENSP00000389838:I129T	ENSP00000376268:I163T	I	+	2	0	SEC14L1	72702367	1.000000	0.71417	0.901000	0.35422	0.847000	0.48162	7.556000	0.82233	2.074000	0.62210	0.533000	0.62120	ATC	SEC14L1	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000129657		0.388	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	149	0.00	0	T	NM_003003		75190772	75190772	+1	no_errors	ENST00000392476	ensembl	human	known	69_37n	missense	260	20.25	66	SNP	0.997	C
SEC31A	22872	genome.wustl.edu	37	4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1107	Interaction with PDCD6.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTCTTGGTAATTTTTTTTGTT	0.388																																						dbGAP											0													147.0	145.0	145.0					4																	83745800		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1120fs	ENST00000395310.2	37	c.3358	CCDS3596.1	4																																																																																			SEC31A	-	NULL	ENSG00000138674		0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	490	0.41	2	T	NM_016211		83745800	83745800	-1	no_errors	ENST00000432794	ensembl	human	known	69_37n	frame_shift_del	378	32.62	184	DEL	1.000	-
NUDT5	11164	genome.wustl.edu	37	10	12209886	12209886	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:12209886G>A	ENST00000491614.1	-	10	946				SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_Intron|NUDT5_ENST00000378937.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000304267.8_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5						D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CAGTGTTTGCGCAGCAGGTAC	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.551-76C>T	10.37:g.12209886G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K516|Q6IAG0|Q9UH49	RNA	SNP	-	NULL	ENST00000491614.1	37	NULL	CCDS7089.1	10																																																																																			SEC61A2	-	-	ENSG00000065665		0.378	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046811.1	120	0.00	0	G			12209886	12209886	+1	no_errors	ENST00000495368	ensembl	human	known	69_37n	rna	49	46.24	43	SNP	0.000	A
SEMA3E	9723	genome.wustl.edu	37	7	82997142	82997142	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:82997142A>G	ENST00000307792.3	-	17	2555	c.2088T>C	c.(2086-2088)tgT>tgC	p.C696C	SEMA3E_ENST00000427262.1_Silent_p.C636C	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	696					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCTGAGCAGGACAAGGCATCC	0.483																																						dbGAP											0													141.0	121.0	127.0					7																	82997142		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2088T>C	7.37:g.82997142A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1P1|Q75M94|Q75M97	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.C696	ENST00000307792.3	37	c.2088	CCDS34674.1	7																																																																																			SEMA3E	-	NULL	ENSG00000170381		0.483	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	298	0.00	0	A	NM_012431		82997142	82997142	-1	no_errors	ENST00000307792	ensembl	human	known	69_37n	silent	166	41.96	120	SNP	0.948	G
SEMA4D	10507	genome.wustl.edu	37	9	92002462	92002462	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:92002462G>A	ENST00000450295.1	-	12	1945	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	SEMA4D_ENST00000343780.4_Missense_Mutation_p.T390M|SEMA4D_ENST00000420987.1_Missense_Mutation_p.T390M|SEMA4D_ENST00000455551.2_Missense_Mutation_p.T390M|SEMA4D_ENST00000356444.2_Missense_Mutation_p.T390M|SEMA4D_ENST00000438547.2_Missense_Mutation_p.T390M|SEMA4D_ENST00000422704.2_Missense_Mutation_p.T390M|SEMA4D_ENST00000339861.4_Missense_Mutation_p.T390M			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	390	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GAACTGCAGCGTCTTGTCTGG	0.522																																						dbGAP											0													157.0	157.0	157.0					9																	92002462		2202	4300	6502	-	-	-	SO:0001583	missense	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1169C>T	9.37:g.92002462G>A	ENSP00000416523:p.Thr390Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.T390M	ENST00000450295.1	37	c.1169	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67968	-0.5533	10	0.72032	D	0.01	.	19.277	0.94036	0.0:0.0:1.0:0.0	.	390;390	Q92854-2;Q92854	.;SEM4D_HUMAN	M	390	ENSP00000344923:T390M;ENSP00000391733:T390M;ENSP00000411981:T390M;ENSP00000343418:T390M;ENSP00000416523:T390M;ENSP00000405102:T390M;ENSP00000348822:T390M;ENSP00000388768:T390M	ENSP00000344923:T390M	T	-	2	0	SEMA4D	91192282	1.000000	0.71417	0.904000	0.35570	0.866000	0.49608	6.047000	0.71038	2.782000	0.95742	0.655000	0.94253	ACG	SEMA4D	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000187764		0.522	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	410	0.00	0	G	NM_006378		92002462	92002462	-1	no_errors	ENST00000356444	ensembl	human	known	69_37n	missense	245	39.61	162	SNP	1.000	A
SEMA4G	57715	genome.wustl.edu	37	10	102740653	102740653	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:102740653C>T	ENST00000370250.4	+	12	1915	c.1542C>T	c.(1540-1542)tgC>tgT	p.C514C	MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.C514C|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000210633.3_Silent_p.C514C|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	514	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACCGATCCTGCTATGACTGCA	0.622																																						dbGAP											0													93.0	101.0	98.0					10																	102740653		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1542C>T	10.37:g.102740653C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.C514	ENST00000370250.4	37	c.1542		10																																																																																			SEMA4G	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000095539		0.622	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	92	0.00	0	C			102740653	102740653	+1	no_errors	ENST00000210633	ensembl	human	known	69_37n	silent	55	37.50	33	SNP	1.000	T
SEMG2	6407	genome.wustl.edu	37	20	43850897	43850897	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:43850897T>C	ENST00000372769.3	+	2	714	c.624T>C	c.(622-624)cgT>cgC	p.R208R		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	208	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AACAACAACGTGAGACTAAAA	0.398																																						dbGAP											0													89.0	82.0	85.0					20																	43850897		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.624T>C	20.37:g.43850897T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	pfam_Semenogelin	p.R208	ENST00000372769.3	37	c.624	CCDS13346.1	20																																																																																			SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	196	0.51	1	T	NM_003008		43850897	43850897	+1	no_errors	ENST00000372769	ensembl	human	known	69_37n	silent	119	39.90	79	SNP	0.000	C
SERPINB9	5272	genome.wustl.edu	37	6	2892088	2892088	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:2892088G>A	ENST00000380698.4	-	6	791	c.702C>T	c.(700-702)gaC>gaT	p.D234D		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	234					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCACGCCGTCGTCAGGCAGCA	0.647																																						dbGAP											0													59.0	60.0	60.0					6																	2892088		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.702C>T	6.37:g.2892088G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBW3|Q5TD03	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Serpin_B9/Maspin	p.D234	ENST00000380698.4	37	c.702	CCDS4478.1	6																																																																																			SERPINB9	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000170542		0.647	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	50	0.00	0	G			2892088	2892088	-1	no_errors	ENST00000380698	ensembl	human	known	69_37n	silent	19	40.62	13	SNP	0.020	A
SETBP1	26040	genome.wustl.edu	37	18	42532404	42532404	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:42532404delT	ENST00000282030.5	+	4	3395	c.3099delT	c.(3097-3099)cctfs	p.P1033fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1033						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAAAGGTGCCTTTTTTACAAG	0.443									Schinzel-Giedion syndrome																													dbGAP											0													83.0	71.0	75.0					18																	42532404		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3099delT	18.37:g.42532404delT	ENSP00000282030:p.Pro1033fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	smart_AT_hook_DNA-bd_motif	p.L1035fs	ENST00000282030.5	37	c.3099	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.443	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	160	0.00	0	T	NM_001130110		42532404	42532404	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	frame_shift_del	102	33.55	52	DEL	1.000	-
SEZ6L	23544	genome.wustl.edu	37	22	26688396	26688396	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:26688396G>A	ENST00000248933.6	+	2	214	c.119G>A	c.(118-120)aGc>aAc	p.S40N	SEZ6L_ENST00000529632.2_Missense_Mutation_p.S40N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S40N|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S40N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S40N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	40					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGAGATGCTAGCCCTTTGGGT	0.572																																						dbGAP											0													48.0	40.0	42.0					22																	26688396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.119G>A	22.37:g.26688396G>A	ENSP00000248933:p.Ser40Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.S40N	ENST00000248933.6	37	c.119	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	3.279	-0.147405	0.06627	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	3.6	-1.2	0.09554	.	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B	0.24721	0.039;0.016;0.0;0.11;0.016;0.016	B;B;B;B;B;B	0.22601	0.007;0.007;0.0;0.04;0.007;0.007	T	0.32214	-0.9915	9	0.02654	T	1	.	3.8542	0.08968	0.4343:0.0:0.4006:0.1651	.	40;40;40;40;40;40	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	N	40	ENSP00000384772:S40N;ENSP00000437037:S40N;ENSP00000354185:S40N;ENSP00000248933:S40N;ENSP00000342661:S40N	ENSP00000248933:S40N	S	+	2	0	SEZ6L	25018396	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.367000	0.20382	-0.238000	0.09724	-0.417000	0.06048	AGC	SEZ6L	-	NULL	ENSG00000100095		0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	53	0.00	0	G			26688396	26688396	+1	no_errors	ENST00000248933	ensembl	human	known	69_37n	missense	33	37.74	20	SNP	0.004	A
SF3A1	10291	genome.wustl.edu	37	22	30733834	30733834	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:30733834C>T	ENST00000215793.8	-	12	1950	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	SF3A1_ENST00000439242.1_Missense_Mutation_p.R534Q	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	599					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CATTGGGGGCCGGGGCATGAC	0.607																																						dbGAP											0													36.0	40.0	39.0					22																	30733834		2203	4300	6503	-	-	-	SO:0001583	missense	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1796G>A	22.37:g.30733834C>T	ENSP00000215793:p.Arg599Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAW1	Missense_Mutation	SNP	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.R599Q	ENST00000215793.8	37	c.1796	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964668	0.92791	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.30981	1.51;1.54	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	L	0.33485	1.01	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.03695	-1.1012	10	0.06891	T	0.86	-22.8176	18.6344	0.91371	0.0:1.0:0.0:0.0	.	599	Q15459	SF3A1_HUMAN	Q	534;599;496;250	ENSP00000390336:R534Q;ENSP00000215793:R599Q	ENSP00000215793:R599Q	R	-	2	0	SF3A1	29063834	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	7.061000	0.76699	2.635000	0.89317	0.650000	0.86243	CGG	SF3A1	-	NULL	ENSG00000099995		0.607	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2	88	0.00	0	C	NM_005877		30733834	30733834	-1	no_errors	ENST00000215793	ensembl	human	known	69_37n	missense	37	42.19	27	SNP	1.000	T
SFSWAP	6433	genome.wustl.edu	37	12	132203999	132203999	+	Splice_Site	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:132203999delA	ENST00000261674.4	+	4	662	c.521delA	c.(520-522)gaa>ga	p.E174fs	SFSWAP_ENST00000541286.1_Splice_Site_p.E174fs	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	174					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TTTTATGCAGAAAAAAATGAG	0.468																																						dbGAP											0													70.0	73.0	72.0					12																	132203999		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.521-1A>-	12.37:g.132203999delA		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN45|B7ZM97|F5H6B8|Q6PJF7	Frame_Shift_Del	DEL	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.N176fs	ENST00000261674.4	37	c.521	CCDS9273.1	12																																																																																			SFSWAP	-	NULL	ENSG00000061936		0.468	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	208	0.00	0	A	NM_004592	Frame_Shift_Del	132203999	132203999	+1	no_errors	ENST00000261674	ensembl	human	known	69_37n	frame_shift_del	171	30.24	75	DEL	0.931	-
SGSH	6448	genome.wustl.edu	37	17	78188916	78188916	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:78188916G>A	ENST00000326317.6	-	3	357	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	SGSH_ENST00000534910.1_Intron|SGSH_ENST00000570923.1_Silent_p.G102G|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	91					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTGGTGCAGCCCGTACATC	0.672																																						dbGAP											0													80.0	65.0	70.0					17																	78188916		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.271C>T	17.37:g.78188916G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E2	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L91	ENST00000326317.6	37	c.271	CCDS11770.1	17																																																																																			SGSH	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000181523		0.672	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSH	HGNC	protein_coding	OTTHUMT00000437695.1	73	0.00	0	G	NM_000199		78188916	78188916	-1	no_errors	ENST00000326317	ensembl	human	known	69_37n	silent	138	12.03	19	SNP	1.000	A
SGSM1	129049	genome.wustl.edu	37	22	25251362	25251362	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:25251362C>T	ENST00000400359.4	+	7	641	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	SGSM1_ENST00000400358.4_Missense_Mutation_p.R212W	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	212						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTCCCACGTGCGGCAGGACTC	0.612																																						dbGAP											0													27.0	30.0	29.0					22																	25251362		2090	4212	6302	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.634C>T	22.37:g.25251362C>T	ENSP00000383212:p.Arg212Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R212W	ENST00000400359.4	37	c.634	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592302	0.66219	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.08370	3.1;3.1	4.2	1.95	0.26073	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.67953	2.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.952;0.985;0.996;0.974;0.973	T	0.00422	-1.1749	10	0.87932	D	0	-2.3312	11.6527	0.51299	0.3334:0.6666:0.0:0.0	.	212;187;345;212;187	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	W	187;212;212	ENSP00000383211:R212W;ENSP00000383212:R212W	ENSP00000383211:R212W	R	+	1	2	SGSM1	23581362	1.000000	0.71417	0.989000	0.46669	0.858000	0.48976	1.458000	0.35223	0.285000	0.22329	0.478000	0.44815	CGG	SGSM1	-	NULL	ENSG00000167037		0.612	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	40	0.00	0	C	XM_059318		25251362	25251362	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	T
SH2D2A	9047	genome.wustl.edu	37	1	156786539	156786539	+	5'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:156786539G>A	ENST00000368199.3	-	0	115				SH2D2A_ENST00000392306.2_5'UTR|SH2D2A_ENST00000368198.3_5'UTR|SH2D2A_ENST00000495306.1_5'UTR|NTRK1_ENST00000392302.2_Intron	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGGGTGTGTGTATGTGTTCC	0.562																																						dbGAP											0													88.0	83.0	85.0					1																	156786539		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.-39C>T	1.37:g.156786539G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	RNA	SNP	-	NULL	ENST00000368199.3	37	NULL	CCDS1159.1	1																																																																																			SH2D2A	-	-	ENSG00000027869		0.562	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	270	0.37	1	G	NM_003975		156786539	156786539	-1	no_errors	ENST00000495306	ensembl	human	known	69_37n	rna	527	13.84	85	SNP	0.000	A
LRRC37B	114659	genome.wustl.edu	37	17	30368135	30368135	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:30368135T>C	ENST00000341671.7	+	8	2128				LRRC37B_ENST00000327564.7_Intron|LRRC37B_ENST00000584368.1_Intron|LRRC37B_ENST00000394713.3_Intron|LRRC37B_ENST00000543378.2_Intron|SH3GL1P1_ENST00000579186.1_RNA	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCCATGCAGATCCTGGACGAG	0.607																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2124-4584T>C	17.37:g.30368135T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RC9|Q5YKG6	RNA	SNP	-	NULL	ENST00000341671.7	37	NULL	CCDS32609.1	17																																																																																			SH3GL1P1	-	-	ENSG00000266777		0.607	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1P1	HGNC	protein_coding	OTTHUMT00000446508.1	37	0.00	0	T	NM_052888		30368135	30368135	+1	no_errors	ENST00000579186	ensembl	human	known	69_37n	rna	26	21.21	7	SNP	1.000	C
SHANK2	22941	genome.wustl.edu	37	11	70742676	70742676	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:70742676C>T	ENST00000338508.4	-	17	1107		c.e17-1					Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGCCACCTGCAAAGTGAAAA	0.413																																						dbGAP											0													327.0	251.0	274.0					11																	70742676		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000338508.4:c.1108-1G>A	11.37:g.70742676C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Splice_Site	SNP	-	e17-1	ENST00000338508.4	37	c.1108-1		11	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.235022	0.01505	.	.	ENSG00000162105	ENST00000338508	.	.	.	4.99	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.26453	N	0.975571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4771	0.02429	0.2136:0.4628:0.1351:0.1885	.	.	.	.	.	-1	.	.	.	-	.	.	SHANK2	70420324	0.046000	0.20272	0.394000	0.26270	0.048000	0.14542	0.053000	0.14184	0.528000	0.28580	-0.460000	0.05396	.	SHANK2	-	-	ENSG00000162105		0.413	SHANK2-201	KNOWN	basic|appris_principal	protein_coding	SHANK2	HGNC	protein_coding		564	0.00	0	C	NM_012309	Intron	70742676	70742676	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	splice_site	366	39.90	243	SNP	0.156	T
SHC1	6464	genome.wustl.edu	37	1	154938890	154938890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:154938890delC	ENST00000368445.5	-	8	1301	c.1087delG	c.(1087-1089)gtgfs	p.V364fs	SHC1_ENST00000368450.1_Frame_Shift_Del_p.V254fs|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368453.4_Frame_Shift_Del_p.V254fs|SHC1_ENST00000448116.2_Frame_Shift_Del_p.V364fs|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Frame_Shift_Del_p.V165fs|SHC1_ENST00000368449.4_Frame_Shift_Del_p.V135fs	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	364	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATGTCTACCACCCCCCCCAAG	0.607																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	dbGAP											0													20.0	24.0	23.0					1																	154938890		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1087delG	1.37:g.154938890delC	ENSP00000357430:p.Val364fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Frame_Shift_Del	DEL	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.V363fs	ENST00000368445.5	37	c.1087	CCDS30881.1	1																																																																																			SHC1	-	NULL	ENSG00000160691		0.607	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	HGNC	protein_coding	OTTHUMT00000090781.2	94	0.00	0	C	NM_183001		154938890	154938890	-1	no_errors	ENST00000448116	ensembl	human	known	69_37n	frame_shift_del	166	11.40	22	DEL	0.930	-
SHKBP1	92799	genome.wustl.edu	37	19	41084069	41084069	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:41084069C>T	ENST00000291842.5	+	5	319	c.270C>T	c.(268-270)caC>caT	p.H90H	SHKBP1_ENST00000600733.1_Silent_p.H90H	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	90					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGTGTCCACGGTTCCAGCC	0.507																																						dbGAP											0													207.0	216.0	213.0					19																	41084069		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.270C>T	19.37:g.41084069C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.H90	ENST00000291842.5	37	c.270	CCDS12560.1	19																																																																																			SHKBP1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000160410		0.507	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	150	0.00	0	C	NM_138392		41084069	41084069	+1	no_errors	ENST00000291842	ensembl	human	known	69_37n	silent	100	33.11	50	SNP	0.903	T
SHROOM2	357	genome.wustl.edu	37	X	9863012	9863012	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:9863012C>T	ENST00000380913.3	+	4	1154	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	355					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTGGCCCAGGCTCAGCCTCGT	0.682																																						dbGAP											0													18.0	17.0	18.0					X																	9863012		2201	4299	6500	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1064C>T	X.37:g.9863012C>T	ENSP00000370299:p.Ala355Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A355V	ENST00000380913.3	37	c.1064	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441475	0.25900	.	.	ENSG00000146950	ENST00000380913	T	0.14516	2.5	4.51	-1.36	0.09085	.	0.825010	0.10580	N	0.658067	T	0.05868	0.0153	N	0.21583	0.68	0.09310	N	1	B	0.27229	0.172	B	0.18871	0.023	T	0.41484	-0.9506	10	0.02654	T	1	-3.0274	5.2447	0.15490	0.0:0.4535:0.1512:0.3953	.	355	Q13796	SHRM2_HUMAN	V	355	ENSP00000370299:A355V	ENSP00000370299:A355V	A	+	2	0	SHROOM2	9823012	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.017000	0.12590	-0.979000	0.03529	-0.176000	0.13171	GCT	SHROOM2	-	NULL	ENSG00000146950		0.682	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	41	0.00	0	C	NM_001649		9863012	9863012	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	15	44.44	12	SNP	0.000	T
SHROOM2	357	genome.wustl.edu	37	X	9900561	9900561	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:9900561G>T	ENST00000380913.3	+	6	3328	c.3238G>T	c.(3238-3240)Ggc>Tgc	p.G1080C	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1080					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCACAGACGGCGCACCTGC	0.692																																						dbGAP											0													27.0	26.0	26.0					X																	9900561		2201	4298	6499	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3238G>T	X.37:g.9900561G>T	ENSP00000370299:p.Gly1080Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G1080C	ENST00000380913.3	37	c.3238	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397387	0.25205	.	.	ENSG00000146950	ENST00000380913	T	0.18016	2.24	4.48	-4.05	0.03998	.	2.658280	0.01220	N	0.008082	T	0.18215	0.0437	N	0.22421	0.69	0.09310	N	0.999999	P	0.43431	0.807	B	0.44163	0.443	T	0.49688	-0.8913	10	0.72032	D	0.01	.	16.2486	0.82467	0.1555:0.0:0.8445:0.0	.	1080	Q13796	SHRM2_HUMAN	C	1080	ENSP00000370299:G1080C	ENSP00000370299:G1080C	G	+	1	0	SHROOM2	9860561	0.015000	0.18098	0.000000	0.03702	0.002000	0.02628	0.284000	0.18864	-0.631000	0.05560	-1.264000	0.01445	GGC	SHROOM2	-	NULL	ENSG00000146950		0.692	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	47	0.00	0	G	NM_001649		9900561	9900561	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	40	35.48	22	SNP	0.000	T
SI	6476	genome.wustl.edu	37	3	164739039	164739039	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:164739039G>A	ENST00000264382.3	-	27	3294	c.3232C>T	c.(3232-3234)Cgg>Tgg	p.R1078W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1078	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGCTTCTCCGTCGAATCTGG	0.348										HNSCC(35;0.089)																												dbGAP											0													142.0	142.0	142.0					3																	164739039		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3232C>T	3.37:g.164739039G>A	ENSP00000264382:p.Arg1078Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R1078W	ENST00000264382.3	37	c.3232	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214187	0.58452	.	.	ENSG00000090402	ENST00000264382	T	0.34275	1.37	4.64	-0.977	0.10282	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	H	0.98027	4.13	0.43476	D	0.995698	D	0.89917	1.0	D	0.97110	1.0	D	0.83435	0.0040	10	0.87932	D	0	.	17.6993	0.88290	0.0:0.0:0.2018:0.7982	.	1078	P14410	SUIS_HUMAN	W	1078	ENSP00000264382:R1078W	ENSP00000264382:R1078W	R	-	1	2	SI	166221733	0.449000	0.25689	0.471000	0.27229	0.960000	0.62799	0.715000	0.25822	-0.419000	0.07439	0.585000	0.79938	CGG	SI	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000090402		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	370	0.00	0	G	NM_001041		164739039	164739039	-1	no_errors	ENST00000264382	ensembl	human	known	69_37n	missense	255	32.18	121	SNP	0.768	A
SIGLEC6	946	genome.wustl.edu	37	19	52033147	52033148	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:52033147_52033148insG	ENST00000425629.3	-	5	996_997	c.842_843insC	c.(841-843)cctfs	p.P281fs	SIGLEC6_ENST00000343300.4_Frame_Shift_Ins_p.P281fs|SIGLEC6_ENST00000346477.3_Frame_Shift_Ins_p.P265fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Ins_p.P270fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Ins_p.P229fs|SIGLEC6_ENST00000359982.4_Frame_Shift_Ins_p.P292fs|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	281	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCAGGTGTGCAGGGGGGTTGCC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.843dupC	19.37:g.52033153_52033153dupG	ENSP00000401502:p.Pro281fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Frame_Shift_Ins	INS	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A282fs	ENST00000425629.3	37	c.843_842	CCDS12834.3	19																																																																																			SIGLEC6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000105492		0.619	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	365	0.00	0	-	NM_001245		52033147	52033148	-1	no_errors	ENST00000425629	ensembl	human	known	69_37n	frame_shift_ins	272	29.35	113	INS	0.979:0.995	G
SIPA1L2	57568	genome.wustl.edu	37	1	232568108	232568108	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:232568108C>A	ENST00000366630.1	-	15	4499	c.4141G>T	c.(4141-4143)Ggg>Tgg	p.G1381W	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.G455W|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G1381W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1381	Ser-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACATGGACCCGGGAACCTGT	0.542																																						dbGAP											0													107.0	106.0	106.0					1																	232568108		1962	4162	6124	-	-	-	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4141G>T	1.37:g.232568108C>A	ENSP00000355589:p.Gly1381Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.G1381W	ENST00000366630.1	37	c.4141	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616723	0.66672	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.80909	-1.43;-1.43;2.52	5.92	5.92	0.95590	.	0.126287	0.52532	D	0.000065	D	0.86615	0.5975	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86909	0.2059	10	0.72032	D	0.01	-35.9621	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1381;455	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	W	1381;1381;455	ENSP00000355589:G1381W;ENSP00000262861:G1381W;ENSP00000309102:G455W	ENSP00000262861:G1381W	G	-	1	0	SIPA1L2	230634731	0.301000	0.24444	0.245000	0.24217	0.322000	0.28314	2.380000	0.44327	2.804000	0.96469	0.655000	0.94253	GGG	SIPA1L2	-	NULL	ENSG00000116991		0.542	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	321	0.00	0	C	XM_045839		232568108	232568108	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	missense	706	16.73	142	SNP	1.000	A
SIPA1L2	57568	genome.wustl.edu	37	1	232601164	232601164	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:232601164T>C	ENST00000366630.1	-	8	2602		c.e8-2		SIPA1L2_ENST00000262861.4_Splice_Site			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACTCCAACACTGAGGAAGTAA	0.388																																						dbGAP											0													49.0	51.0	50.0					1																	232601164		1927	4140	6067	-	-	-	SO:0001630	splice_region_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2244-2A>G	1.37:g.232601164T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Splice_Site	SNP	-	e7-2	ENST00000366630.1	37	c.2244-2	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007735	0.54361	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIPA1L2	230667787	1.000000	0.71417	0.958000	0.39756	0.649000	0.38597	8.040000	0.89188	2.255000	0.74692	0.533000	0.62120	.	SIPA1L2	-	-	ENSG00000116991		0.388	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	73	0.00	0	T	XM_045839	Intron	232601164	232601164	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	splice_site	119	15.00	21	SNP	0.999	C
SIRPD	128646	genome.wustl.edu	37	20	1515074	1515074	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:1515074T>A	ENST00000381623.3	-	4	1780	c.591A>T	c.(589-591)aaA>aaT	p.K197N	SIRPD_ENST00000381621.1_Missense_Mutation_p.K198N			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	197						extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GTTTGGATTATTTTGACAGCA	0.358																																						dbGAP											0													148.0	141.0	143.0					20																	1515074		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.591A>T	20.37:g.1515074T>A	ENSP00000371036:p.Lys197Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS88|Q5TFQ6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.K198N	ENST00000381623.3	37	c.594	CCDS13018.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.404|7.404	0.633343|0.633343	0.14322|0.14322	.|.	.|.	ENSG00000125900|ENSG00000125900	ENST00000381623;ENST00000381621|ENST00000429387	T;T|.	0.02258|.	4.37;4.42|.	1.52|1.52	1.52|1.52	0.23074|0.23074	.|.	.|.	.|.	.|.	.|.	T|T	0.16041|0.16041	0.0386|0.0386	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|.	0.56287|.	0.975|.	B|.	0.42522|.	0.39|.	T|T	0.23048|0.23048	-1.0199|-1.0199	9|5	0.87932|.	D|.	0|.	.|.	5.1562|5.1562	0.15036|0.15036	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	197|.	Q9H106|.	SIRPD_HUMAN|.	N|I	197;198|80	ENSP00000371036:K197N;ENSP00000371034:K198N|.	ENSP00000371034:K198N|.	K|N	-|-	3|2	2|0	SIRPD|SIRPD	1463074|1463074	0.004000|0.004000	0.15560|0.15560	0.015000|0.015000	0.15790|0.15790	0.483000|0.483000	0.33249|0.33249	0.353000|0.353000	0.20130|0.20130	0.943000|0.943000	0.37553|0.37553	0.459000|0.459000	0.35465|0.35465	AAA|AAT	SIRPD	-	NULL	ENSG00000125900		0.358	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPD	HGNC	protein_coding	OTTHUMT00000077552.1	360	0.00	0	T	NM_178460		1515074	1515074	-1	no_errors	ENST00000381621	ensembl	human	known	69_37n	missense	232	36.96	136	SNP	0.022	A
SIRPG	55423	genome.wustl.edu	37	20	1611081	1611081	+	Intron	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:1611081A>G	ENST00000303415.3	-	5	1146				SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000381580.1_Intron|SIRPG_ENST00000478145.2_Intron|SIRPG_ENST00000216927.4_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CATCCTGCCCAGGCTATCTTC	0.572																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1082-129T>C	20.37:g.1611081A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	RNA	SNP	-	NULL	ENST00000303415.3	37	NULL	CCDS13020.2	20																																																																																			SIRPG	-	-	ENSG00000089012		0.572	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	35	0.00	0	A	NM_018556		1611081	1611081	-1	no_errors	ENST00000497407	ensembl	human	known	69_37n	rna	23	36.11	13	SNP	0.001	G
SKIDA1	387640	genome.wustl.edu	37	10	21804099	21804099	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:21804099T>C	ENST00000449193.2	-	4	4905	c.2653A>G	c.(2653-2655)Ata>Gta	p.I885V	SKIDA1_ENST00000444772.3_Missense_Mutation_p.I806V	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	804						nucleus (GO:0005634)											CATTTCCATATAGGATGGGCC	0.418																																						dbGAP											0													50.0	47.0	48.0					10																	21804099		1831	4087	5918	-	-	-	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2653A>G	10.37:g.21804099T>C	ENSP00000410041:p.Ile885Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.I885V	ENST00000449193.2	37	c.2653	CCDS44363.1	10	.	.	.	.	.	.	.	.	.	.	T	0.261	-0.999386	0.02128	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.060534	0.64402	D	0.000003	T	0.26593	0.0650	N	0.08118	0	0.36220	D	0.851924	B	0.20052	0.041	B	0.19666	0.026	T	0.28459	-1.0043	9	0.02654	T	1	-0.0019	9.0545	0.36397	0.0:0.1142:0.0:0.8858	.	885	E9PAX1	.	V	885;806	.	ENSP00000442432:I806V	I	-	1	0	C10orf140	21844105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.518000	0.53451	2.276000	0.75962	0.533000	0.62120	ATA	SKIDA1	-	NULL	ENSG00000180592		0.418	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	145	0.00	0	T	NM_207371		21804099	21804099	-1	no_errors	ENST00000449193	ensembl	human	known	69_37n	missense	116	38.95	74	SNP	1.000	C
SKOR1	390598	genome.wustl.edu	37	15	68119168	68119168	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:68119168C>T	ENST00000380035.2	+	2	1060	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	SKOR1_ENST00000554240.1_Silent_p.A295A|SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554054.1_Silent_p.A306A|SKOR1_ENST00000389002.1_Silent_p.A290A			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	334					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ATGAGGCTGCCGGGCCTCCGG	0.776																																						dbGAP											0													3.0	4.0	4.0					15																	68119168		1564	3275	4839	-	-	-	SO:0001819	synonymous_variant	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1002C>T	15.37:g.68119168C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.A334	ENST00000380035.2	37	c.1002		15																																																																																			SKOR1	-	NULL	ENSG00000188779		0.776	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	11	0.00	0	C	NM_001031807		68119168	68119168	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	0.003	T
SLAMF6	114836	genome.wustl.edu	37	1	160458909	160458909	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:160458909G>T	ENST00000368057.3	-	6	908	c.848C>A	c.(847-849)aCt>aAt	p.T283N	SLAMF6_ENST00000368055.1_Missense_Mutation_p.T172N|SLAMF6_ENST00000368059.3_Missense_Mutation_p.T282N			Q96DU3	SLAF6_HUMAN	SLAM family member 6	283						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGCATACACAGTGTTGTTCGT	0.438																																						dbGAP											0													256.0	202.0	220.0					1																	160458909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.848C>A	1.37:g.160458909G>T	ENSP00000357036:p.Thr283Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.T283N	ENST00000368057.3	37	c.848	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493491	0.44352	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.26223	2.75;2.73;1.75	4.58	4.58	0.56647	.	1.451560	0.05041	N	0.476344	T	0.32164	0.0820	L	0.36672	1.1	0.37442	D	0.914469	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	T	0.01578	-1.1320	10	0.34782	T	0.22	-26.7829	13.0673	0.59041	0.0:0.0:1.0:0.0	.	172;233;283;282	Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;SLAF6_HUMAN;.	N	282;283;172	ENSP00000357038:T282N;ENSP00000357036:T283N;ENSP00000357034:T172N	ENSP00000357034:T172N	T	-	2	0	SLAMF6	158725533	0.903000	0.30736	0.835000	0.33067	0.243000	0.25628	3.782000	0.55401	2.543000	0.85770	0.655000	0.94253	ACT	SLAMF6	-	NULL	ENSG00000162739		0.438	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	HGNC	protein_coding	OTTHUMT00000059010.1	342	0.00	0	G	NM_052931		160458909	160458909	-1	no_errors	ENST00000368057	ensembl	human	known	69_37n	missense	644	18.07	142	SNP	0.848	T
SLC12A2	6558	genome.wustl.edu	37	5	127507374	127507374	+	Missense_Mutation	SNP	A	A	G	rs111986207		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:127507374A>G	ENST00000262461.2	+	19	2928	c.2739A>G	c.(2737-2739)atA>atG	p.I913M	SLC12A2_ENST00000343225.4_Missense_Mutation_p.I913M	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	913					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CTTTTGACATACAATATGGAG	0.264																																						dbGAP											0													99.0	106.0	104.0					5																	127507374		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2739A>G	5.37:g.127507374A>G	ENSP00000262461:p.Ile913Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.I913M	ENST00000262461.2	37	c.2739	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	A	8.587	0.883576	0.17467	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.93859	-3.3;-3.3	5.0	1.09	0.20402	.	0.292458	0.38111	N	0.001811	T	0.72803	0.3506	N	0.00729	-1.24	0.42318	D	0.992245	P;B	0.46706	0.883;0.421	B;B	0.42771	0.397;0.097	T	0.68379	-0.5424	10	0.19147	T	0.46	.	1.2372	0.01955	0.4562:0.1317:0.095:0.3171	.	913;913	P55011-3;P55011	.;S12A2_HUMAN	M	913	ENSP00000262461:I913M;ENSP00000340878:I913M	ENSP00000262461:I913M	I	+	3	3	SLC12A2	127535273	0.992000	0.36948	1.000000	0.80357	0.968000	0.65278	0.302000	0.19192	0.480000	0.27534	0.528000	0.53228	ATA	SLC12A2	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.264	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	204	0.00	0	A	NM_001046		127507374	127507374	+1	no_errors	ENST00000262461	ensembl	human	known	69_37n	missense	130	41.70	93	SNP	1.000	G
SLC16A10	117247	genome.wustl.edu	37	6	111498537	111498537	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:111498537G>A	ENST00000368851.5	+	3	786	c.611G>A	c.(610-612)gGc>gAc	p.G204D	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	204					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CTGGTGAATGGCATTGTCACT	0.493																																						dbGAP											0													124.0	118.0	120.0					6																	111498537		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.611G>A	6.37:g.111498537G>A	ENSP00000357844:p.Gly204Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G204D	ENST00000368851.5	37	c.611	CCDS5089.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.978850|4.978850	0.92982|0.92982	.|.	.|.	ENSG00000112394|ENSG00000112394	ENST00000419619;ENST00000439288|ENST00000535637;ENST00000368851;ENST00000368853	.|T	.|0.77358	.|-1.09	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.045428	.|0.85682	.|D	.|0.000000	D|D	0.91019|0.91019	0.7175|0.7175	H|H	0.94423|0.94423	3.535|3.535	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.93112|0.93112	0.6517|0.6517	5|10	.|0.87932	.|D	.|0	.|.	19.143|19.143	0.93452|0.93452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|204;204	.|Q8TF71;Q05BR4	.|MOT10_HUMAN;.	T|D	90|204;204;95	.|ENSP00000357844:G204D	.|ENSP00000357844:G204D	A|G	+|+	1|2	0|0	SLC16A10|SLC16A10	111605230|111605230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.358000|9.358000	0.97109|0.97109	2.578000|2.578000	0.87016|0.87016	0.563000|0.563000	0.77884|0.77884	GCA|GGC	SLC16A10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000112394		0.493	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A10	HGNC	protein_coding	OTTHUMT00000041822.2	295	0.00	0	G			111498537	111498537	+1	no_errors	ENST00000368851	ensembl	human	known	69_37n	missense	238	30.72	106	SNP	1.000	A
SLC16A3	9123	genome.wustl.edu	37	17	80195570	80195570	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:80195570G>A	ENST00000581287.1	+	3	3246	c.924G>A	c.(922-924)gcG>gcA	p.A308A	SLC16A3_ENST00000392339.1_Silent_p.A308A|SLC16A3_ENST00000392341.1_Silent_p.A308A|SLC16A3_ENST00000582743.1_Silent_p.A308A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	308					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	ACGGCCTCGCGGACCTGGCGG	0.662																																					Pancreas(52;652 1135 19190 37282 52456)	dbGAP											0													54.0	56.0	55.0					17																	80195570		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.924G>A	17.37:g.80195570G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXG8|Q2M1P8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.A308	ENST00000581287.1	37	c.924	CCDS11804.1	17																																																																																			SLC16A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000141526		0.662	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1	98	0.00	0	G	NM_004207		80195570	80195570	+1	no_errors	ENST00000392339	ensembl	human	known	69_37n	silent	224	17.88	49	SNP	0.051	A
SLC1A3	6507	genome.wustl.edu	37	5	36677049	36677049	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:36677049C>T	ENST00000265113.4	+	6	1099	c.623C>T	c.(622-624)aCg>aTg	p.T208M	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.T208M	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	208					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.T208M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAACGAAACGCTTGTGGGT	0.428																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											80.0	74.0	76.0					5																	36677049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.623C>T	5.37:g.36677049C>T	ENSP00000265113:p.Thr208Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5T3|Q4JCQ8	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.T208M	ENST00000265113.4	37	c.623	CCDS3919.1	5	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898502	0.52227	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.57752	0.38;0.38	6.02	5.15	0.70609	.	0.140170	0.64402	D	0.000004	T	0.63757	0.2538	L	0.45352	1.415	0.41548	D	0.988552	D;D	0.65815	0.995;0.972	P;P	0.60886	0.88;0.667	T	0.67094	-0.5757	10	0.59425	D	0.04	-13.5837	17.2911	0.87157	0.0:0.8745:0.1255:0.0	.	208;208	Q4JCQ8;P43003	.;EAA1_HUMAN	M	208;156;208	ENSP00000265113:T208M;ENSP00000371343:T208M	ENSP00000265113:T208M	T	+	2	0	SLC1A3	36712806	1.000000	0.71417	0.877000	0.34402	0.070000	0.16714	5.389000	0.66255	1.538000	0.49270	0.655000	0.94253	ACG	SLC1A3	-	pfam_Na-dicarboxylate_symporter	ENSG00000079215		0.428	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	259	0.00	0	C	NM_004172		36677049	36677049	+1	no_errors	ENST00000265113	ensembl	human	known	69_37n	missense	136	45.82	115	SNP	0.995	T
SLC1A7	6512	genome.wustl.edu	37	1	53608111	53608111	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:53608111T>C	ENST00000371494.4	-	1	138	c.11A>G	c.(10-12)cAt>cGt	p.H4R	SLC1A7_ENST00000371491.4_Missense_Mutation_p.H4R	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	4					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CAAGATGGCATGCGGCACCAT	0.652																																					NSCLC(128;80 1811 21245 38490 51715)	dbGAP											0													129.0	79.0	96.0					1																	53608111		2203	4299	6502	-	-	-	SO:0001583	missense	0			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.11A>G	1.37:g.53608111T>C	ENSP00000360549:p.His4Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.H4R	ENST00000371494.4	37	c.11	CCDS574.1	1	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.333359	0.01298	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.47177	0.85;2.01	5.53	2.01	0.26516	.	0.374860	0.25535	N	0.030013	T	0.16811	0.0404	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21965	-1.0230	10	0.12103	T	0.63	2.8288	5.6967	0.17859	0.0:0.4589:0.0:0.5411	.	4;4	Q9BW45;O00341	.;EAA5_HUMAN	R	4	ENSP00000360549:H4R;ENSP00000360546:H4R	ENSP00000360546:H4R	H	-	2	0	SLC1A7	53380699	0.670000	0.27512	0.006000	0.13384	0.074000	0.17049	2.225000	0.42954	0.667000	0.31107	-0.345000	0.07892	CAT	SLC1A7	-	NULL	ENSG00000162383		0.652	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	77	0.00	0	T	NM_006671		53608111	53608111	-1	no_errors	ENST00000371494	ensembl	human	known	69_37n	missense	58	30.95	26	SNP	0.204	C
SLC20A2	6575	genome.wustl.edu	37	8	42294888	42294888	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:42294888C>T	ENST00000342228.3	-	8	1511	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	SLC20A2_ENST00000520179.1_Missense_Mutation_p.R381H|SLC20A2_ENST00000520262.1_Missense_Mutation_p.R381H	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	381					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTTGTTTCGGCGCAGCAGCCG	0.592																																						dbGAP											0													100.0	99.0	99.0					8																	42294888		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1142G>A	8.37:g.42294888C>T	ENSP00000340465:p.Arg381His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phos_transporter	p.R381H	ENST00000342228.3	37	c.1142	CCDS6132.1	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963440	0.74016	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.92647	-3.08;-3.08;-3.08	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93721	0.7033	10	0.27082	T	0.32	-22.7046	17.1599	0.86801	0.0:1.0:0.0:0.0	.	381	Q08357	S20A2_HUMAN	H	381	ENSP00000340465:R381H;ENSP00000429754:R381H;ENSP00000429712:R381H	ENSP00000340465:R381H	R	-	2	0	SLC20A2	42414045	1.000000	0.71417	0.391000	0.26233	0.069000	0.16628	7.800000	0.85949	2.647000	0.89833	0.655000	0.94253	CGC	SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.592	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	115	0.00	0	C			42294888	42294888	-1	no_errors	ENST00000342228	ensembl	human	known	69_37n	missense	62	40.57	43	SNP	1.000	T
SLC22A17	51310	genome.wustl.edu	37	14	23816858	23816858	+	Silent	SNP	G	G	A	rs577523704		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:23816858G>A	ENST00000206544.8	-	7	1363	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	SLC22A17_ENST00000397260.3_Silent_p.L232L|SLC22A17_ENST00000354772.3_Silent_p.L343L|SLC22A17_ENST00000397267.1_Silent_p.L343L|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	343					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTGGCCAGCAGAGAGCAC	0.642																																						dbGAP											0													56.0	64.0	61.0					14																	23816858		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.1027C>T	14.37:g.23816858G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L343	ENST00000206544.8	37	c.1027	CCDS9593.1	14																																																																																			SLC22A17	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000092096		0.642	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	HGNC	protein_coding	OTTHUMT00000157223.3	73	0.00	0	G	NM_020372		23816858	23816858	-1	no_errors	ENST00000206544	ensembl	human	known	69_37n	silent	48	36.84	28	SNP	1.000	A
SLC22A7	10864	genome.wustl.edu	37	6	43268964	43268964	+	Missense_Mutation	SNP	C	C	T	rs572582792		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:43268964C>T	ENST00000372585.5	+	6	1014	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R305W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R305W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	307					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTCAATGGGCGGCCAGTGTG	0.577																																						dbGAP											0													179.0	163.0	168.0					6																	43268964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.919C>T	6.37:g.43268964C>T	ENSP00000361666:p.Arg307Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R307W	ENST00000372585.5	37	c.919	CCDS4893.2	6	.	.	.	.	.	.	.	.	.	.	C	13.05	2.119972	0.37436	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574	T;T;T	0.73897	-0.79;-0.79;-0.77	4.99	1.81	0.25067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.852760	0.00892	N	0.002258	T	0.58235	0.2108	M	0.73598	2.24	0.09310	N	0.999999	B;B;B	0.31655	0.334;0.287;0.159	B;B;B	0.32624	0.149;0.092;0.073	T	0.50206	-0.8855	10	0.72032	D	0.01	.	3.3705	0.07219	0.2551:0.5142:0.1394:0.0914	.	307;305;305	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	W	305;307;305	ENSP00000361670:R305W;ENSP00000361666:R307W;ENSP00000361655:R305W	ENSP00000361655:R305W	R	+	1	2	SLC22A7	43376942	0.917000	0.31117	0.849000	0.33467	0.906000	0.53458	0.716000	0.25836	1.095000	0.41419	0.462000	0.41574	CGG	SLC22A7	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000137204		0.577	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	SLC22A7	HGNC	protein_coding	OTTHUMT00000040588.1	688	0.14	1	C			43268964	43268964	+1	no_errors	ENST00000372585	ensembl	human	known	69_37n	missense	386	38.96	247	SNP	0.084	T
SLC23A2	9962	genome.wustl.edu	37	20	4837735	4837735	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:4837735delT	ENST00000379333.1	-	17	2228	c.1836delA	c.(1834-1836)aaafs	p.K612fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.K498fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.K612fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	612					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.K612fs*>39(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCATCTGTATTTTTTTATAA	0.473																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											166.0	160.0	162.0					20																	4837735		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1836delA	20.37:g.4837735delT	ENSP00000368637:p.Lys612fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	pfam_Xant/urac/vitC	p.K612fs	ENST00000379333.1	37	c.1836	CCDS13085.1	20																																																																																			SLC23A2	-	NULL	ENSG00000089057		0.473	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	418	0.00	0	T			4837735	4837735	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	frame_shift_del	252	33.07	127	DEL	0.948	-
SLC23A2	9962	genome.wustl.edu	37	20	4855308	4855308	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:4855308C>T	ENST00000379333.1	-	10	1251	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC23A2_ENST00000424750.2_Missense_Mutation_p.A173T|SLC23A2_ENST00000338244.1_Missense_Mutation_p.A287T|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	287					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATTTCTGGCGTATTGAGAA	0.368																																						dbGAP											0													122.0	125.0	124.0					20																	4855308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.859G>A	20.37:g.4855308C>T	ENSP00000368637:p.Ala287Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.A287T	ENST00000379333.1	37	c.859	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.782759|2.782759	0.49891|0.49891	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750|ENST00000423430	T;T;T|.	0.17528|.	2.27;2.27;2.27|.	5.9|5.9	3.92|3.92	0.45320|0.45320	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57080|0.57080	0.2029|0.2029	L|L	0.38175|0.38175	1.15|1.15	0.44843|0.44843	D|D	0.997853|0.997853	P;P;P|.	0.45126|.	0.851;0.683;0.683|.	B;B;B|.	0.43413|.	0.419;0.188;0.188|.	T|T	0.51671|0.51671	-0.8676|-0.8676	10|5	0.87932|.	D|.	0|.	-18.9003|-18.9003	15.3486|15.3486	0.74363|0.74363	0.0:0.7349:0.2651:0.0|0.0:0.7349:0.2651:0.0	.|.	173;287;287|.	B4DJZ1;A0MSJ5;Q9UGH3|.	.;.;S23A2_HUMAN|.	T|H	287;287;173|43	ENSP00000368637:A287T;ENSP00000344322:A287T;ENSP00000406601:A173T|.	ENSP00000344322:A287T|.	A|R	-|-	1|2	0|0	SLC23A2|SLC23A2	4803308|4803308	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.004000|0.004000	0.04260|0.04260	5.920000|5.920000	0.70017|0.70017	0.796000|0.796000	0.33947|0.33947	-0.176000|-0.176000	0.13171|0.13171	GCC|CGC	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.368	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	260	0.00	0	C			4855308	4855308	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	missense	191	33.91	98	SNP	1.000	T
SLC24A1	9187	genome.wustl.edu	37	15	65917242	65917242	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:65917242T>C	ENST00000261892.6	+	2	1111	c.824T>C	c.(823-825)gTc>gCc	p.V275A	SLC24A1_ENST00000339868.6_Missense_Mutation_p.V275A|SLC24A1_ENST00000546330.1_Missense_Mutation_p.V275A|SLC24A1_ENST00000537259.1_Missense_Mutation_p.V275A|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V275A|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V275A	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	275					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCAAGGAGCGTCATGGAAAAA	0.507																																						dbGAP											0													96.0	92.0	93.0					15																	65917242		1887	4103	5990	-	-	-	SO:0001583	missense	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.824T>C	15.37:g.65917242T>C	ENSP00000261892:p.Val275Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like	p.V275A	ENST00000261892.6	37	c.824	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473375	0.26423	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.68025	-0.07;-0.28;-0.28;-0.28;-0.3;-0.28	5.19	-3.5	0.04710	.	2.462400	0.01296	N	0.010175	T	0.53029	0.1771	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.13594	0.0;0.0;0.0;0.008;0.005	B;B;B;B;B	0.15484	0.0;0.0;0.0;0.013;0.006	T	0.49380	-0.8946	10	0.72032	D	0.01	.	7.6535	0.28363	0.0:0.5492:0.162:0.2888	.	275;275;275;275;275	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	A	275	ENSP00000439693:V275A;ENSP00000261892:V275A;ENSP00000341837:V275A;ENSP00000445163:V275A;ENSP00000381991:V275A;ENSP00000439190:V275A	ENSP00000261892:V275A	V	+	2	0	SLC24A1	63704295	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.260000	0.02858	-0.503000	0.06586	-0.899000	0.02877	GTC	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger	ENSG00000074621		0.507	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	111	0.00	0	T	NM_004727		65917242	65917242	+1	no_errors	ENST00000261892	ensembl	human	known	69_37n	missense	82	33.60	42	SNP	0.000	C
SLC25A10	1468	genome.wustl.edu	37	17	79681982	79681982	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:79681982G>T	ENST00000350690.5	+	2	179		c.e2-1		SLC25A10_ENST00000331531.5_Splice_Site|SLC25A10_ENST00000545862.1_Splice_Site|SLC25A10_ENST00000571730.1_Intron|SLC25A10_ENST00000541223.1_Intron	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10						carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CACTCCCGCAGGTGCATCTGC	0.647																																						dbGAP											0													38.0	34.0	35.0					17																	79681982		2199	4299	6498	-	-	-	SO:0001630	splice_region_variant	0				CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.94-1G>T	17.37:g.79681982G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q542Z3|Q96BA1|Q96IP1	Splice_Site	SNP	-	e2-1	ENST00000350690.5	37	c.94-1	CCDS11786.1	17	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670689	0.47781	.	.	ENSG00000183048	ENST00000331531;ENST00000350690	.	.	.	4.29	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1033	0.59233	0.0:0.1624:0.8376:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A10	77292387	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.183000	0.77697	1.947000	0.56498	0.561000	0.74099	.	SLC25A10	-	-	ENSG00000183048		0.647	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440816.1	26	0.00	0	G		Intron	79681982	79681982	+1	no_errors	ENST00000331531	ensembl	human	known	69_37n	splice_site	44	26.67	16	SNP	1.000	T
SLC2A10	81031	genome.wustl.edu	37	20	45353856	45353856	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:45353856G>A	ENST00000359271.2	+	2	431	c.181G>A	c.(181-183)Gcc>Acc	p.A61T		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	61					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCTCTCCTCGCCTCCCTGGT	0.617																																						dbGAP											0													57.0	56.0	56.0					20																	45353856		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.181G>A	20.37:g.45353856G>A	ENSP00000352216:p.Ala61Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.A61T	ENST00000359271.2	37	c.181	CCDS13402.1	20	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245684	0.59103	.	.	ENSG00000197496	ENST00000359271	T	0.74002	-0.8	4.53	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122178	0.53938	N	0.000052	D	0.88400	0.6426	M	0.88105	2.93	0.49582	D	0.999808	D	0.89917	1.0	D	0.91635	0.999	D	0.90979	0.4826	10	0.72032	D	0.01	5.2569	17.6191	0.88076	0.0:0.0:1.0:0.0	.	61	O95528	GTR10_HUMAN	T	61	ENSP00000352216:A61T	ENSP00000352216:A61T	A	+	1	0	SLC2A10	44787263	1.000000	0.71417	0.947000	0.38551	0.291000	0.27294	7.877000	0.87225	2.220000	0.72140	0.407000	0.27541	GCC	SLC2A10	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197496		0.617	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SLC2A10	HGNC	protein_coding	OTTHUMT00000079578.2	228	0.00	0	G			45353856	45353856	+1	no_errors	ENST00000359271	ensembl	human	known	69_37n	missense	148	34.48	80	SNP	0.998	A
SLC35F1	222553	genome.wustl.edu	37	6	118596758	118596759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:118596758_118596759insT	ENST00000360388.4	+	5	975_976	c.774_775insT	c.(775-777)tttfs	p.F259fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	259					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTTTGGAGCATTTTTCAGTGG	0.381																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.779dupT	6.37:g.118596763_118596763dupT	ENSP00000353557:p.Phe259fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Frame_Shift_Ins	INS	pfam_DUF914_euk,pfam_DMT	p.S260fs	ENST00000360388.4	37	c.774_775	CCDS34524.1	6																																																																																			SLC35F1	-	pfam_DUF914_euk,pfam_DMT	ENSG00000196376		0.381	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	229	0.00	0	-	XM_167044		118596758	118596759	+1	no_errors	ENST00000360388	ensembl	human	known	69_37n	frame_shift_ins	164	39.26	106	INS	0.998:1.000	T
SLC36A2	153201	genome.wustl.edu	37	5	150696581	150696581	+	Missense_Mutation	SNP	C	C	T	rs201209744		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:150696581C>T	ENST00000335244.4	-	10	1378	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	SLC36A2_ENST00000450886.1_Missense_Mutation_p.A141T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	417					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	AGGGCCAGGGCGGTGCCACTC	0.632																																						dbGAP											0													63.0	54.0	57.0					5																	150696581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1249G>A	5.37:g.150696581C>T	ENSP00000334223:p.Ala417Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A417T	ENST00000335244.4	37	c.1249	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249448	0.39797	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.02140	4.43;4.43	4.92	4.92	0.64577	.	0.176037	0.52532	D	0.000075	T	0.03477	0.0100	L	0.51914	1.62	0.58432	D	0.999998	P	0.38195	0.622	B	0.37508	0.252	T	0.58272	-0.7665	10	0.10636	T	0.68	-24.152	18.6751	0.91526	0.0:1.0:0.0:0.0	.	417	Q495M3	S36A2_HUMAN	T	417;141	ENSP00000334223:A417T;ENSP00000399479:A141T	ENSP00000334223:A417T	A	-	1	0	SLC36A2	150676774	0.997000	0.39634	0.998000	0.56505	0.935000	0.57460	3.610000	0.54125	2.712000	0.92718	0.650000	0.86243	GCC	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.632	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	209	0.48	1	C			150696581	150696581	-1	no_errors	ENST00000335244	ensembl	human	known	69_37n	missense	109	39.79	76	SNP	1.000	T
SLC37A2	219855	genome.wustl.edu	37	11	124949079	124949079	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:124949079C>T	ENST00000403796.2	+	5	687	c.386C>T	c.(385-387)aCc>aTc	p.T129I	SLC37A2_ENST00000308074.4_Missense_Mutation_p.T129I|SLC37A2_ENST00000298280.5_Missense_Mutation_p.T129I|SLC37A2_ENST00000407458.1_Missense_Mutation_p.T129I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	129					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGCCTTTTCACCTCGCTCTTT	0.537																																					Melanoma(11;373 620 21213 26083 47768)	dbGAP											0													156.0	141.0	146.0					11																	124949079		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.386C>T	11.37:g.124949079C>T	ENSP00000384407:p.Thr129Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T129I	ENST00000403796.2	37	c.386	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905233	0.92035	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000532000;ENST00000308074	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.92219	3.285	0.80722	D	1	P;P	0.52170	0.951;0.559	P;P	0.57425	0.82;0.665	D	0.85029	0.0916	10	0.72032	D	0.01	-42.0161	17.5474	0.87866	0.0:1.0:0.0:0.0	.	129;129	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	I	129;129;129;92;129	ENSP00000384407:T129I;ENSP00000385126:T129I;ENSP00000298280:T129I;ENSP00000432254:T92I;ENSP00000311833:T129I	ENSP00000298280:T129I	T	+	2	0	SLC37A2	124454289	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	7.627000	0.83176	2.470000	0.83445	0.655000	0.94253	ACC	SLC37A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.537	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	249	0.00	0	C	XM_166184		124949079	124949079	+1	no_errors	ENST00000308074	ensembl	human	known	69_37n	missense	172	38.13	106	SNP	1.000	T
SLC37A2	219855	genome.wustl.edu	37	11	124949085	124949085	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:124949085T>A	ENST00000403796.2	+	5	693	c.392T>A	c.(391-393)cTc>cAc	p.L131H	SLC37A2_ENST00000308074.4_Missense_Mutation_p.L131H|SLC37A2_ENST00000298280.5_Missense_Mutation_p.L131H|SLC37A2_ENST00000407458.1_Missense_Mutation_p.L131H	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	131					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TTCACCTCGCTCTTTGGCCTG	0.537																																					Melanoma(11;373 620 21213 26083 47768)	dbGAP											0													152.0	136.0	141.0					11																	124949085		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.392T>A	11.37:g.124949085T>A	ENSP00000384407:p.Leu131His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L131H	ENST00000403796.2	37	c.392	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272992	0.80580	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000532000;ENST00000308074	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.145086	0.47852	D	0.000206	D	0.82435	0.5036	M	0.92026	3.265	0.54753	D	0.999986	D;D	0.89917	1.0;0.999	D;D	0.76071	0.979;0.987	D	0.86770	0.1972	10	0.87932	D	0	-23.3584	14.097	0.65029	0.0:0.0:0.0:1.0	.	131;131	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	H	131;131;131;94;131	ENSP00000384407:L131H;ENSP00000385126:L131H;ENSP00000298280:L131H;ENSP00000432254:L94H;ENSP00000311833:L131H	ENSP00000298280:L131H	L	+	2	0	SLC37A2	124454295	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	7.843000	0.86859	2.000000	0.58554	0.533000	0.62120	CTC	SLC37A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.537	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	261	0.00	0	T	XM_166184		124949085	124949085	+1	no_errors	ENST00000308074	ensembl	human	known	69_37n	missense	172	38.21	107	SNP	1.000	A
SLC38A1	81539	genome.wustl.edu	37	12	46599925	46599925	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:46599925C>T	ENST00000398637.5	-	9	1278	c.584G>A	c.(583-585)cGc>cAc	p.R195H	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.R195H|SLC38A1_ENST00000552197.1_Missense_Mutation_p.R195H|SLC38A1_ENST00000546893.1_Missense_Mutation_p.R195H|SLC38A1_ENST00000549049.1_Missense_Mutation_p.R195H	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	195					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CACCAGAACGCGGCCATCCAC	0.388																																						dbGAP											0													84.0	87.0	86.0					12																	46599925		1914	4145	6059	-	-	-	SO:0001583	missense	0			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.584G>A	12.37:g.46599925C>T	ENSP00000381634:p.Arg195His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R195H	ENST00000398637.5	37	c.584	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855369	0.51376	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000017	T	0.05547	0.0146	M	0.61703	1.905	0.41643	D	0.989085	P;P;B	0.42941	0.794;0.777;0.069	B;B;B	0.39771	0.309;0.3;0.047	T	0.31641	-0.9936	10	0.44086	T	0.13	-4.2813	15.3285	0.74186	0.0:0.8607:0.1393:0.0	.	195;195;195	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	H	195	ENSP00000449607:R195H;ENSP00000398142:R195H;ENSP00000381634:R195H;ENSP00000447853:R195H;ENSP00000449756:R195H	ENSP00000381634:R195H	R	-	2	0	SLC38A1	44886192	0.997000	0.39634	0.960000	0.40013	0.686000	0.39977	3.856000	0.55964	2.688000	0.91661	0.467000	0.42956	CGC	SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.388	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	192	0.00	0	C			46599925	46599925	-1	no_errors	ENST00000398637	ensembl	human	known	69_37n	missense	125	33.16	62	SNP	0.976	T
SLC38A4	55089	genome.wustl.edu	37	12	47178890	47178890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:47178890C>A	ENST00000447411.1	-	5	603	c.397G>T	c.(397-399)Gga>Tga	p.G133*	SLC38A4_ENST00000266579.4_Nonsense_Mutation_p.G133*	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	133					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGCATACCTCCTTCCTTGGCT	0.358																																						dbGAP											0													144.0	142.0	143.0					12																	47178890		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.397G>T	12.37:g.47178890C>A	ENSP00000389843:p.Gly133*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K553	Nonsense_Mutation	SNP	pfam_AA_transpt_TM	p.G133*	ENST00000447411.1	37	c.397	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.511323	0.97624	.	.	ENSG00000139209	ENST00000395426;ENST00000447411;ENST00000266579;ENST00000547477;ENST00000546940	.	.	.	5.97	5.97	0.96955	.	0.108809	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000266579:G133X	G	-	1	0	SLC38A4	45465157	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	GGA	SLC38A4	-	pfam_AA_transpt_TM	ENSG00000139209		0.358	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1	479	0.00	0	C			47178890	47178890	-1	no_errors	ENST00000266579	ensembl	human	known	69_37n	nonsense	295	36.75	172	SNP	1.000	A
SLC39A1	27173	genome.wustl.edu	37	1	153935178	153935178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:153935178delC	ENST00000368623.3	-	1	773	c.14delG	c.(13-15)ggafs	p.G5fs	SLC39A1_ENST00000310483.6_Frame_Shift_Del_p.G5fs|SLC39A1_ENST00000356205.4_Frame_Shift_Del_p.G5fs|SLC39A1_ENST00000368621.1_Frame_Shift_Del_p.G5fs|SLC39A1_ENST00000537590.1_5'UTR|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	5					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCTGGCTCTCCCCAGGGCCC	0.607																																						dbGAP											0													15.0	20.0	18.0					1																	153935178		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.14delG	1.37:g.153935178delC	ENSP00000357612:p.Gly5fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Frame_Shift_Del	DEL	pfam_ZIP	p.G5fs	ENST00000368623.3	37	c.14	CCDS1055.1	1																																																																																			SLC39A1	-	NULL	ENSG00000143570		0.607	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A1	HGNC	protein_coding	OTTHUMT00000090284.1	62	0.00	0	C	NM_014437		153935178	153935178	-1	no_errors	ENST00000310483	ensembl	human	known	69_37n	frame_shift_del	86	14.56	15	DEL	0.989	-
SLC44A1	23446	genome.wustl.edu	37	9	108061534	108061534	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:108061534C>T	ENST00000374720.3	+	2	317	c.70C>T	c.(70-72)Cgt>Tgt	p.R24C	SLC44A1_ENST00000374724.1_Missense_Mutation_p.R24C|SLC44A1_ENST00000607692.1_3'UTR|SLC44A1_ENST00000374723.1_Missense_Mutation_p.R24C	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	24					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCTGGAGGACCGTAGCTGCAC	0.438																																						dbGAP											0													148.0	122.0	131.0					9																	108061534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.70C>T	9.37:g.108061534C>T	ENSP00000363852:p.Arg24Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.R24C	ENST00000374720.3	37	c.70	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604338	0.87157	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	D;D;D	0.81499	-1.5;-1.5;-1.5	5.63	5.63	0.86233	.	0.060921	0.64402	D	0.000004	D	0.90793	0.7109	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.79784	0.993;0.635	D	0.91645	0.5330	10	0.87932	D	0	-1.1682	17.8126	0.88620	0.0:1.0:0.0:0.0	.	24;24	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	C	24	ENSP00000363855:R24C;ENSP00000363852:R24C;ENSP00000363856:R24C	ENSP00000363852:R24C	R	+	1	0	SLC44A1	107101355	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.002000	0.63952	2.805000	0.96524	0.655000	0.94253	CGT	SLC44A1	-	NULL	ENSG00000070214		0.438	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	169	0.00	0	C	NM_080546		108061534	108061534	+1	no_errors	ENST00000374720	ensembl	human	known	69_37n	missense	127	31.72	59	SNP	1.000	T
SLC45A4	57210	genome.wustl.edu	37	8	142229023	142229023	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:142229023G>A	ENST00000024061.3	-	4	870	c.563C>T	c.(562-564)gCc>gTc	p.A188V	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A188V|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A181V|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A239V	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GAAGATGATGGCGGCAAAGAA	0.662																																						dbGAP											0													93.0	97.0	96.0					8																	142229023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.563C>T	8.37:g.142229023G>A	ENSP00000024061:p.Ala188Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.A239V	ENST00000024061.3	37	c.716	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400798	0.62177	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.3	5.3	0.74995	.	0.100250	0.64402	D	0.000002	D	0.93782	0.8012	L	0.37561	1.115	0.47009	D	0.999283	D;D;B	0.76494	0.999;0.992;0.172	D;D;B	0.74674	0.984;0.917;0.376	D	0.92811	0.6264	10	0.33940	T	0.23	-35.8864	19.0189	0.92905	0.0:0.0:1.0:0.0	.	239;188;188	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	V	188;239;181;188;46	ENSP00000429059:A188V;ENSP00000428137:A239V;ENSP00000400799:A181V;ENSP00000024061:A188V;ENSP00000429033:A46V	ENSP00000024061:A188V	A	-	2	0	SLC45A4	142298205	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	5.068000	0.64364	2.479000	0.83701	0.555000	0.69702	GCC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.662	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	70	0.00	0	G	XM_050325		142229023	142229023	-1	no_errors	ENST00000517878	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	1.000	A
SLC4A2	6522	genome.wustl.edu	37	7	150772561	150772561	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:150772561G>A	ENST00000485713.1	+	20	4307	c.3267G>A	c.(3265-3267)caG>caA	p.Q1089Q	FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000461735.1_Silent_p.Q1075Q|SLC4A2_ENST00000310317.5_Silent_p.Q1007Q|SLC4A2_ENST00000392826.2_Silent_p.Q1080Q|SLC4A2_ENST00000413384.2_Silent_p.Q1089Q|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1089	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGGAGCAGCGGGTGACGG	0.632																																						dbGAP											0													134.0	143.0	140.0					7																	150772561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3267G>A	7.37:g.150772561G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.Q1089	ENST00000485713.1	37	c.3267	CCDS5917.1	7																																																																																			SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.632	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	238	0.00	0	G	NM_003040		150772561	150772561	+1	no_errors	ENST00000413384	ensembl	human	known	69_37n	silent	141	41.25	99	SNP	1.000	A
SLC4A3	6508	genome.wustl.edu	37	2	220494034	220494035	+	Frame_Shift_Ins	INS	-	-	G	rs140733778		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:220494034_220494035insG	ENST00000358055.3	+	4	898_899	c.386_387insG	c.(385-390)gaggggfs	p.EG129fs	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.EG129fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.EG129fs|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.EG129fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.EG129fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	129					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCAGGAGGAGGGGGGAGCTG	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.392dupG	2.37:g.220494040_220494040dupG	ENSP00000350756:p.Glu129fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.A132fs	ENST00000358055.3	37	c.386_387	CCDS2445.1	2																																																																																			SLC4A3	-	NULL	ENSG00000114923		0.639	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	80	0.00	0	-	NM_005070		220494034	220494035	+1	no_errors	ENST00000273063	ensembl	human	known	69_37n	frame_shift_ins	58	30.95	26	INS	1.000:1.000	G
SLC4A8	9498	genome.wustl.edu	37	12	51857480	51857480	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:51857480A>T	ENST00000453097.2	+	11	1548	c.1331A>T	c.(1330-1332)gAa>gTa	p.E444V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.E471V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E391V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E391V|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E391V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGTGGGCCAGAACTTCAGCGC	0.478																																						dbGAP											0													98.0	99.0	98.0					12																	51857480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1331A>T	12.37:g.51857480A>T	ENSP00000405812:p.Glu444Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E444V	ENST00000453097.2	37	c.1331	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727807	0.89390	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91459	0.7304	M	0.91663	3.23	0.80722	D	1	D;P;D;D;P;P	0.89917	1.0;0.529;0.99;0.983;0.887;0.887	D;P;P;D;P;P	0.87578	0.998;0.454;0.897;0.954;0.897;0.897	D	0.92996	0.6419	10	0.62326	D	0.03	.	14.773	0.69693	1.0:0.0:0.0:0.0	.	391;471;391;444;444;444	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	V	391;471;444;391;444;391;391	ENSP00000441520:E391V;ENSP00000351483:E471V;ENSP00000405812:E444V;ENSP00000378325:E391V;ENSP00000442561:E391V	ENSP00000315789:E444V	E	+	2	0	SLC4A8	50143747	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.317000	0.96327	2.201000	0.70794	0.533000	0.62120	GAA	SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.478	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	242	0.00	0	A	NM_004858		51857480	51857480	+1	no_errors	ENST00000453097	ensembl	human	known	69_37n	missense	161	41.09	113	SNP	1.000	T
SLC6A17	388662	genome.wustl.edu	37	1	110709700	110709700	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:110709700C>T	ENST00000331565.4	+	2	634	c.149C>T	c.(148-150)gCg>gTg	p.A50V	RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	50					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AAGCAGAAGGCGGTGGAGGAG	0.617																																						dbGAP											0													65.0	52.0	56.0					1																	110709700		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.149C>T	1.37:g.110709700C>T	ENSP00000330199:p.Ala50Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.A50V	ENST00000331565.4	37	c.149	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	6.784	0.513681	0.12944	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.74106	-0.81	4.55	0.103	0.14526	.	1.157690	0.06174	N	0.678179	T	0.30293	0.0760	N	0.11789	0.175	0.18873	N	0.999985	B	0.13145	0.007	B	0.11329	0.006	T	0.12066	-1.0562	10	0.24483	T	0.36	.	5.1515	0.15011	0.2222:0.5036:0.0:0.2742	.	50	Q9H1V8	S6A17_HUMAN	V	50	ENSP00000330199:A50V	ENSP00000330199:A50V	A	+	2	0	SLC6A17	110511223	0.001000	0.12720	0.270000	0.24601	0.160000	0.22226	-0.035000	0.12205	0.167000	0.19631	0.563000	0.77884	GCG	SLC6A17	-	NULL	ENSG00000197106		0.617	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	197	0.00	0	C	XM_371280		110709700	110709700	+1	no_errors	ENST00000331565	ensembl	human	known	69_37n	missense	103	46.50	93	SNP	0.233	T
SLC7A7	9056	genome.wustl.edu	37	14	23249244	23249244	+	Frame_Shift_Del	DEL	A	A	-	rs527568845		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:23249244delA	ENST00000397532.3	-	3	1041	c.516delT	c.(514-516)attfs	p.I172fs	SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.I172fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.I172fs|SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.I172fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.I172fs			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	172					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGCACAGTTAATGAAGGTTA	0.433																																						dbGAP											0													120.0	114.0	116.0					14																	23249244		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.516delT	14.37:g.23249244delA	ENSP00000380666:p.Ile172fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Frame_Shift_Del	DEL	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.N173fs	ENST00000397532.3	37	c.516	CCDS9574.1	14																																																																																			SLC7A7	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000155465		0.433	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	189	0.00	0	A			23249244	23249244	-1	no_errors	ENST00000285850	ensembl	human	known	69_37n	frame_shift_del	134	35.24	74	DEL	1.000	-
SLC7A8	23428	genome.wustl.edu	37	14	23608665	23608665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:23608665delG	ENST00000316902.7	-	6	1605	c.880delC	c.(880-882)cagfs	p.Q294fs	SLC7A8_ENST00000453702.1_Frame_Shift_Del_p.Q91fs|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Frame_Shift_Del_p.Q70fs|SLC7A8_ENST00000529705.2_Frame_Shift_Del_p.Q189fs|SLC7A8_ENST00000532568.1_5'UTR	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	294					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCAGCTCCTGGGGGGACATT	0.522																																						dbGAP											0													141.0	130.0	134.0					14																	23608665		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.880delC	14.37:g.23608665delG	ENSP00000320378:p.Gln294fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Frame_Shift_Del	DEL	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.Q294fs	ENST00000316902.7	37	c.880	CCDS9590.1	14																																																																																			SLC7A8	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000092068		0.522	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A8	HGNC	protein_coding	OTTHUMT00000071718.3	208	0.00	0	G			23608665	23608665	-1	no_errors	ENST00000316902	ensembl	human	known	69_37n	frame_shift_del	156	35.32	89	DEL	1.000	-
SLC8A1	6546	genome.wustl.edu	37	2	40405624	40405624	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:40405624T>C	ENST00000403092.1	-	3	1851	c.1818A>G	c.(1816-1818)atA>atG	p.I606M	SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Missense_Mutation_p.I606M|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.I606M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.I606M|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	606	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTGACTGATATTGTTTTGC	0.433																																						dbGAP											0													179.0	178.0	178.0					2																	40405624		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1818A>G	2.37:g.40405624T>C	ENSP00000384763:p.Ile606Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_N,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.I606M	ENST00000403092.1	37	c.1818	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622514	0.46840	.	.	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.48	5.48	0.80851	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	H	0.97240	3.965	0.80722	D	1	P;P	0.43412	0.558;0.806	P;D	0.63703	0.651;0.917	T	0.81348	-0.0973	10	0.87932	D	0	.	13.5373	0.61653	0.0:0.0:0.0:1.0	.	606;606	F6VPY9;P32418	.;NAC1_HUMAN	M	606	ENSP00000440727:I606M;ENSP00000384763:I606M;ENSP00000385678:I606M;ENSP00000332931:I606M	ENSP00000332931:I606M	I	-	3	3	SLC8A1	40259128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.958000	0.40402	2.073000	0.62155	0.482000	0.46254	ATA	SLC8A1	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000183023		0.433	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	488	0.00	0	T	NM_021097		40405624	40405624	-1	no_errors	ENST00000332839	ensembl	human	known	69_37n	missense	308	35.16	167	SNP	1.000	C
SLC8A2	6543	genome.wustl.edu	37	19	47960697	47960697	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:47960697delG	ENST00000236877.6	-	3	1225	c.830delC	c.(829-831)ccgfs	p.P277fs	SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.P33fs|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	277					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GATGCTCTTCGGGGGGTCGCC	0.711																																						dbGAP											0													12.0	17.0	15.0					19																	47960697		2192	4282	6474	-	-	-	SO:0001589	frameshift_variant	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.830delC	19.37:g.47960697delG	ENSP00000236877:p.Pro277fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYQ9	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.P277fs	ENST00000236877.6	37	c.830	CCDS33065.1	19																																																																																			SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.711	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	31	0.00	0	G			47960697	47960697	-1	no_errors	ENST00000236877	ensembl	human	known	69_37n	frame_shift_del	17	34.62	9	DEL	1.000	-
SLC9A8	23315	genome.wustl.edu	37	20	48491322	48491322	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:48491322A>G	ENST00000361573.2	+	11	1081	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V	SLC9A8_ENST00000539601.1_Missense_Mutation_p.M128V|SLC9A8_ENST00000541138.1_Missense_Mutation_p.M47V|SLC9A8_ENST00000417961.1_Missense_Mutation_p.M363V			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	347					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			CCAGATCCTCATGCAGCAGAC	0.557																																						dbGAP											0													291.0	210.0	237.0					20																	48491322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1039A>G	20.37:g.48491322A>G	ENSP00000354966:p.Met347Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.M363V	ENST00000361573.2	37	c.1087	CCDS13421.1	20	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828675	0.50845	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T	0.61158	0.14;0.13	5.64	5.64	0.86602	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	N	0.04787	-0.16	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.23716	0.03;0.048	T	0.27262	-1.0079	10	0.12766	T	0.61	.	15.8578	0.78994	1.0:0.0:0.0:0.0	.	128;347	B4DIX7;Q9Y2E8	.;SL9A8_HUMAN	V	363;347;47;128	ENSP00000416418:M363V;ENSP00000354966:M347V	ENSP00000354966:M347V	M	+	1	0	SLC9A8	47924729	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.039000	0.93777	2.147000	0.66899	0.533000	0.62120	ATG	SLC9A8	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.557	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	671	0.15	1	A	XM_030524		48491322	48491322	+1	no_errors	ENST00000417961	ensembl	human	known	69_37n	missense	403	35.30	221	SNP	1.000	G
SLFN13	146857	genome.wustl.edu	37	17	33767699	33767699	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:33767699G>A	ENST00000285013.6	-	6	2884	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	SLFN13_ENST00000526861.1_Missense_Mutation_p.P870L|SLFN13_ENST00000534689.1_Missense_Mutation_p.P552L|SLFN13_ENST00000360502.2_Missense_Mutation_p.P552L|SLFN13_ENST00000542635.1_Missense_Mutation_p.P870L|SLFN13_ENST00000533791.1_Missense_Mutation_p.P870L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	870						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGTCCTTGGATGGATCCC	0.468																																						dbGAP											0													209.0	187.0	194.0					17																	33767699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2609C>T	17.37:g.33767699G>A	ENSP00000285013:p.Pro870Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.P870L	ENST00000285013.6	37	c.2609	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	g	16.64	3.180185	0.57800	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47	3.27	3.27	0.37495	.	0.000000	0.46442	D	0.000287	D	0.88797	0.6534	M	0.84585	2.705	0.09310	N	0.999998	D;D	0.89917	0.998;1.0	D;D	0.80764	0.971;0.994	T	0.79857	-0.1626	10	0.87932	D	0	.	10.1474	0.42771	0.0:0.0:1.0:0.0	.	552;870	Q68D06-2;Q68D06	.;SLN13_HUMAN	L	870;552;870;870;552	ENSP00000285013:P870L;ENSP00000353692:P552L;ENSP00000434439:P870L;ENSP00000444016:P870L;ENSP00000435442:P552L	ENSP00000285013:P870L	P	-	2	0	SLFN13	30791812	0.997000	0.39634	0.013000	0.15412	0.307000	0.27823	3.770000	0.55310	1.811000	0.52892	0.407000	0.27541	CCA	SLFN13	-	NULL	ENSG00000154760		0.468	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	378	0.00	0	G	NM_144682		33767699	33767699	-1	no_errors	ENST00000285013	ensembl	human	known	69_37n	missense	93	60.26	141	SNP	0.014	A
SLITRK1	114798	genome.wustl.edu	37	13	84453605	84453605	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:84453605C>T	ENST00000377084.2	-	1	2923	c.2038G>A	c.(2038-2040)Gca>Aca	p.A680T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	680					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCCCCATCTGCGTTGTAAGGC	0.547																																						dbGAP											0													63.0	59.0	61.0					13																	84453605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.2038G>A	13.37:g.84453605C>T	ENSP00000366288:p.Ala680Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A680T	ENST00000377084.2	37	c.2038	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273856	0.23221	.	.	ENSG00000178235	ENST00000377084	T	0.59224	0.28	4.98	3.25	0.37280	.	0.194121	0.45126	N	0.000383	T	0.30792	0.0776	N	0.08118	0	0.37366	D	0.911413	B	0.06786	0.001	B	0.01281	0.0	T	0.10200	-1.0640	10	0.20046	T	0.44	-0.5869	6.4914	0.22117	0.0:0.6458:0.0:0.3542	.	680	Q96PX8	SLIK1_HUMAN	T	680	ENSP00000366288:A680T	ENSP00000366288:A680T	A	-	1	0	SLITRK1	83351606	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	1.261000	0.32980	0.815000	0.34398	0.655000	0.94253	GCA	SLITRK1	-	NULL	ENSG00000178235		0.547	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	137	0.72	1	C	NM_052910		84453605	84453605	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	missense	87	23.01	26	SNP	1.000	T
SMARCA4	6597	genome.wustl.edu	37	19	11118633	11118635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:11118633_11118635delAGA	ENST00000429416.3	+	15	2338_2340	c.2057_2059delAGA	c.(2056-2061)gagaag>gag	p.K689del	SMARCA4_ENST00000541122.2_In_Frame_Del_p.K689del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K689del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K689del|SMARCA4_ENST00000358026.2_In_Frame_Del_p.K689del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K689del|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K689del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K689del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K689del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	689					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K687E(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCGTGGAGGAGAAGAAGAAGAT	0.586			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)																																								-	-	-	SO:0001651	inframe_deletion	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2057_2059delAGA	19.37:g.11118642_11118644delAGA	ENSP00000395654:p.Lys689del	Somatic		WXS	Illumina GAIIx	Phase_IV	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.K689in_frame_del	ENST00000429416.3	37	c.2057_2059	CCDS12253.1	19																																																																																			SMARCA4	-	NULL	ENSG00000127616		0.586	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	161	0.00	0	AGA	NM_003072		11118633	11118635	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	in_frame_del	58	62.11	100	DEL	1.000:0.994:1.000	-
SMARCAD1	56916	genome.wustl.edu	37	4	95173838	95173838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:95173838delA	ENST00000354268.4	+	9	1034	c.961delA	c.(961-963)aaafs	p.K321fs	SMARCAD1_ENST00000457823.2_Frame_Shift_Del_p.K321fs|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	321					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAATTACCCTAAAAATGCAAC	0.274																																						dbGAP											0													23.0	23.0	23.0					4																	95173838		2199	4295	6494	-	-	-	SO:0001589	frameshift_variant	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.961delA	4.37:g.95173838delA	ENSP00000346217:p.Lys321fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N322fs	ENST00000354268.4	37	c.961	CCDS3639.1	4																																																																																			SMARCAD1	-	NULL	ENSG00000163104		0.274	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	93	0.00	0	A	NM_020159		95173838	95173838	+1	no_errors	ENST00000359052	ensembl	human	known	69_37n	frame_shift_del	55	36.67	33	DEL	1.000	-
SMARCAD1	56916	genome.wustl.edu	37	4	95173909	95173910	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:95173909_95173910insA	ENST00000354268.4	+	9	1105_1106	c.1032_1033insA	c.(1033-1035)aaafs	p.K345fs	SMARCAD1_ENST00000457823.2_Frame_Shift_Ins_p.K345fs|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	345					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ACAAGAAACGTAAAAAAAATGT	0.312																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1040dupA	4.37:g.95173917_95173917dupA	ENSP00000346217:p.Lys345fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N346fs	ENST00000354268.4	37	c.1032_1033	CCDS3639.1	4																																																																																			SMARCAD1	-	NULL	ENSG00000163104		0.312	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	132	0.75	1	-	NM_020159		95173909	95173910	+1	no_errors	ENST00000359052	ensembl	human	known	69_37n	frame_shift_ins	101	28.87	41	INS	0.996:1.000	A
SMC1A	8243	genome.wustl.edu	37	X	53409065	53409065	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:53409065C>T	ENST00000322213.4	-	22	3565				SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A						DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCATCACCTTCGCAGATCTCT	0.527																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3437+87G>A	X.37:g.53409065C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14995|Q16351|Q2M228	RNA	SNP	-	NULL	ENST00000322213.4	37	NULL	CCDS14352.1	X																																																																																			SMC1A	-	-	ENSG00000072501		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	33	0.00	0	C	NM_006306		53409065	53409065	-1	no_errors	ENST00000469129	ensembl	human	known	69_37n	rna	15	40.00	10	SNP	0.000	T
SMC1A	8243	genome.wustl.edu	37	X	53409442	53409442	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:53409442G>A	ENST00000322213.4	-	21	3397	c.3270C>T	c.(3268-3270)cgC>cgT	p.R1090R	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1090					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACTGCTATTGCGGGACAGGG	0.517																																						dbGAP											0													65.0	52.0	57.0					X																	53409442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3270C>T	X.37:g.53409442G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O14995|Q16351|Q2M228	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.R1090	ENST00000322213.4	37	c.3270	CCDS14352.1	X																																																																																			SMC1A	-	pfam_RecF/RecN/SMC	ENSG00000072501		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	153	0.00	0	G	NM_006306		53409442	53409442	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	silent	112	41.36	79	SNP	0.947	A
SMC4	10051	genome.wustl.edu	37	3	160146629	160146629	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:160146629A>G	ENST00000357388.3	+	18	3145	c.2694A>G	c.(2692-2694)aaA>aaG	p.K898K	SMC4_ENST00000344722.5_Silent_p.K898K|SMC4_ENST00000360111.2_Silent_p.K898K|SMC4_ENST00000469762.1_Silent_p.K873K|SMC4_ENST00000462787.1_Silent_p.K898K|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	898					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATAATCATAAACTCAAGGCCC	0.353																																						dbGAP											0													123.0	118.0	119.0					3																	160146629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2694A>G	3.37:g.160146629A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.K898	ENST00000357388.3	37	c.2694	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC,superfamily_Prefoldin	ENSG00000113810		0.353	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	301	0.33	1	A			160146629	160146629	+1	no_errors	ENST00000344722	ensembl	human	known	69_37n	silent	214	34.56	113	SNP	1.000	G
SMC6	79677	genome.wustl.edu	37	2	17881629	17881629	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:17881629T>C	ENST00000448223.2	-	21	2509	c.2240A>G	c.(2239-2241)gAa>gGa	p.E747G	SMC6_ENST00000402989.1_Missense_Mutation_p.E747G|SMC6_ENST00000381272.4_Missense_Mutation_p.E773G|SMC6_ENST00000351948.4_Missense_Mutation_p.E747G	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	747					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTTTATTTTCCTGAGCTTC	0.264																																						dbGAP											0													116.0	105.0	109.0					2																	17881629		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.2240A>G	2.37:g.17881629T>C	ENSP00000404092:p.Glu747Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.E773G	ENST00000448223.2	37	c.2318	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534167	0.64972	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.18	5.18	0.71444	RecF/RecN/SMC (1);	0.149125	0.64402	D	0.000014	T	0.44138	0.1279	M	0.65498	2.005	0.47737	D	0.999507	P;P	0.48350	0.821;0.909	P;P	0.54210	0.543;0.745	T	0.33650	-0.9860	10	0.42905	T	0.14	.	10.9169	0.47142	0.1405:0.0:0.0:0.8595	.	773;747	Q96SB8-2;Q96SB8	.;SMC6_HUMAN	G	747;747;773;747	ENSP00000404092:E747G;ENSP00000323439:E747G;ENSP00000370672:E773G;ENSP00000384539:E747G	ENSP00000323439:E747G	E	-	2	0	SMC6	17745110	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	3.635000	0.54309	2.119000	0.64992	0.477000	0.44152	GAA	SMC6	-	NULL	ENSG00000163029		0.264	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	549	0.00	0	T	NM_024624		17881629	17881629	-1	no_errors	ENST00000381272	ensembl	human	known	69_37n	missense	492	15.99	94	SNP	1.000	C
SMR3A	26952	genome.wustl.edu	37	4	71232426	71232426	+	Silent	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:71232426A>T	ENST00000226460.4	+	3	216	c.120A>T	c.(118-120)ccA>ccT	p.P40P		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	40	Poly-Pro.|Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCTCCTCCACCATGTTTTC	0.512																																						dbGAP											0													87.0	82.0	84.0					4																	71232426		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.120A>T	4.37:g.71232426A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.P40	ENST00000226460.4	37	c.120	CCDS34000.1	4																																																																																			SMR3A	-	NULL	ENSG00000109208		0.512	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	259	0.00	0	A	NM_012390		71232426	71232426	+1	no_errors	ENST00000226460	ensembl	human	known	69_37n	silent	195	35.10	106	SNP	0.003	T
SMTN	6525	genome.wustl.edu	37	22	31496909	31496909	+	Intron	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:31496909A>G	ENST00000347557.2	+	19	2821				SMTN_ENST00000333137.7_Missense_Mutation_p.D881G|SMTN_ENST00000404574.1_Missense_Mutation_p.D404G|SMTN_ENST00000358743.1_Missense_Mutation_p.D881G	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GATACAGAGGACATGGTGCGG	0.637																																						dbGAP											0													39.0	34.0	36.0					22																	31496909		2202	4300	6502	-	-	-	SO:0001627	intron_variant	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2603+1027A>G	22.37:g.31496909A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D881G	ENST00000347557.2	37	c.2642	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045026	0.55110	.	.	ENSG00000183963	ENST00000358743;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000404574;ENST00000403419	T;T;T	0.72051	-0.62;-0.62;-0.62	4.41	4.41	0.53225	.	0.000000	0.36591	N	0.002505	D	0.87873	0.6287	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.994;1.0;0.994;1.0;0.998	D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.998;0.999;0.999	D	0.91348	0.5102	10	0.87932	D	0	-35.1365	14.3464	0.66668	1.0:0.0:0.0:0.0	.	937;261;404;904;881;881	E7ETT8;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814-5	.;.;.;.;.;.	G	881;881;879;904;404;261	ENSP00000351593:D881G;ENSP00000329532:D881G;ENSP00000383919:D404G	ENSP00000329393:D879G	D	+	2	0	SMTN	29826909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.726000	0.91474	1.935000	0.56089	0.460000	0.39030	GAC	SMTN	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000183963		0.637	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	45	0.00	0	A	NM_134270		31496909	31496909	+1	no_errors	ENST00000333137	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	1.000	G
SMTN	6525	genome.wustl.edu	37	22	31500430	31500430	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:31500430G>A	ENST00000347557.2	+	20	2950	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H	SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R934H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	911					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CACGAACTGCGCCTGCGCGGC	0.642																																						dbGAP											0													130.0	101.0	111.0					22																	31500430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2732G>A	22.37:g.31500430G>A	ENSP00000328635:p.Arg911His	Somatic		WXS	Illumina GAIIx	Phase_IV	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R911H	ENST00000347557.2	37	c.2732	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914443	0.92178	.	.	ENSG00000183963	ENST00000358743;ENST00000347557	T;T	0.68181	0.08;-0.31	5.03	5.03	0.67393	.	0.000000	0.34507	N	0.003916	T	0.71316	0.3325	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.64410	0.811;0.925	T	0.74278	-0.3717	10	0.52906	T	0.07	.	18.743	0.91780	0.0:0.0:1.0:0.0	.	934;911	E7EWD0;P53814	.;SMTN_HUMAN	H	934;911	ENSP00000351593:R934H;ENSP00000328635:R911H	ENSP00000328635:R911H	R	+	2	0	SMTN	29830430	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.036000	0.57304	2.526000	0.85167	0.549000	0.68633	CGC	SMTN	-	NULL	ENSG00000183963		0.642	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	86	0.00	0	G	NM_134270		31500430	31500430	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	missense	53	31.65	25	SNP	1.000	A
SNAPC1	6617	genome.wustl.edu	37	14	62245578	62245578	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:62245578G>A	ENST00000216294.4	+	7	879	c.775G>A	c.(775-777)Gca>Aca	p.A259T	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	259	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATGTGAAAGGGCAGAATCATT	0.284																																					NSCLC(27;223 907 37180 39193 46568)	dbGAP											0													69.0	74.0	72.0					14																	62245578		2203	4296	6499	-	-	-	SO:0001583	missense	0			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.775G>A	14.37:g.62245578G>A	ENSP00000216294:p.Ala259Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SNAPc_SNAP43	p.A259T	ENST00000216294.4	37	c.775	CCDS9755.1	14	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706609	0.89018	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	M	0.66939	2.045	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.78989	-0.1986	9	0.66056	D	0.02	-29.0631	17.5131	0.87765	0.0:0.0:1.0:0.0	.	259	Q16533	SNPC1_HUMAN	T	259	.	ENSP00000216294:A259T	A	+	1	0	SNAPC1	61315331	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.204000	0.65180	2.809000	0.96659	0.655000	0.94253	GCA	SNAPC1	-	NULL	ENSG00000023608		0.284	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2	209	0.00	0	G	NM_003082		62245578	62245578	+1	no_errors	ENST00000216294	ensembl	human	known	69_37n	missense	151	43.45	116	SNP	1.000	A
SNAPC4	6621	genome.wustl.edu	37	9	139275774	139275774	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139275774C>A	ENST00000298532.2	-	18	2756	c.2388G>T	c.(2386-2388)caG>caT	p.Q796H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGTAGCTTACCTGGGTAAACA	0.507																																						dbGAP											0													96.0	115.0	108.0					9																	139275774		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2388+1G>T	9.37:g.139275774C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q796H	ENST00000298532.2	37	c.2388	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737966	0.49045	.	.	ENSG00000165684	ENST00000298532	T	0.53640	0.61	4.94	4.94	0.65067	.	0.539353	0.18377	N	0.143079	T	0.61388	0.2343	L	0.55990	1.75	0.43145	D	0.994904	D	0.89917	1.0	D	0.83275	0.996	T	0.59648	-0.7415	9	.	.	.	-27.9687	10.7692	0.46312	0.0:0.9122:0.0:0.0878	.	796	Q5SXM2	SNPC4_HUMAN	H	796	ENSP00000298532:Q796H	.	Q	-	3	2	SNAPC4	138395595	1.000000	0.71417	0.915000	0.36163	0.223000	0.24884	2.252000	0.43196	2.279000	0.76181	0.551000	0.68910	CAG	SNAPC4	-	NULL	ENSG00000165684		0.507	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	41	0.00	0	C	NM_003086	Missense_Mutation	139275774	139275774	-1	no_errors	ENST00000298532	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	1.000	A
SNAPC4	6621	genome.wustl.edu	37	9	139277851	139277851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:139277851C>T	ENST00000298532.2	-	15	2138	c.1770G>A	c.(1768-1770)tgG>tgA	p.W590*		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCCTCCCAGCCAGGCCCCTG	0.697																																						dbGAP											0													14.0	14.0	14.0					9																	139277851		2159	4253	6412	-	-	-	SO:0001587	stop_gained	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1770G>A	9.37:g.139277851C>T	ENSP00000298532:p.Trp590*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.W590*	ENST00000298532.2	37	c.1770	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.252911	0.97417	.	.	ENSG00000165684	ENST00000298532	.	.	.	4.43	-1.81	0.07882	.	3.251660	0.00649	N	0.000553	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.0577	11.0913	0.48117	0.1201:0.1864:0.6934:0.0	.	.	.	.	X	590	.	ENSP00000298532:W590X	W	-	3	0	SNAPC4	138397672	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.161000	0.16481	0.018000	0.15052	-0.305000	0.09177	TGG	SNAPC4	-	NULL	ENSG00000165684		0.697	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	17	0.00	0	C	NM_003086		139277851	139277851	-1	no_errors	ENST00000298532	ensembl	human	known	69_37n	nonsense	3	81.25	13	SNP	0.000	T
RPL27A	6157	genome.wustl.edu	37	11	8705820	8705820	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:8705820C>T	ENST00000314138.6	+	3	546				SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000524496.1_Intron|RPL27A_ENST00000526562.1_Intron|RPL27A_ENST00000531978.1_Intron|RPL27A_ENST00000532359.1_Intron|RPL27A_ENST00000530022.1_Intron|RPL27A_ENST00000530913.1_5'UTR|SNORA3_ENST00000364113.1_RNA	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTGAGTGTGCTAGAGTCCTC	0.488																																						dbGAP											0													219.0	207.0	211.0					11																	8705820		874	1987	2861	-	-	-	SO:0001627	intron_variant	0			U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.143+192C>T	11.37:g.8705820C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4B3	RNA	SNP	-	NULL	ENST00000314138.6	37	NULL	CCDS7790.1	11																																																																																			SNORA3	-	-	ENSG00000200983		0.488	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA3	HGNC	protein_coding	OTTHUMT00000386506.1	22	0.00	0	C	NM_000990		8705820	8705820	+1	no_errors	ENST00000364113	ensembl	human	known	69_37n	rna	13	38.10	8	SNP	1.000	T
NCL	4691	genome.wustl.edu	37	2	232321172	232321172	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:232321172T>C	ENST00000322723.4	-	11	1946				SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin						angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGAACTTGACTATCTAGAGGA	0.438																																						dbGAP											0													117.0	114.0	115.0					2																	232321172		876	1991	2867	-	-	-	SO:0001627	intron_variant	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1705+169A>G	2.37:g.232321172T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	RNA	SNP	-	NULL	ENST00000322723.4	37	NULL	CCDS33397.1	2																																																																																			SNORD20	-	-	ENSG00000207280		0.438	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD20	HGNC	protein_coding	OTTHUMT00000332731.1	14	0.00	0	T	NM_005381		232321172	232321172	-1	no_errors	ENST00000384550	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	1.000	C
SNX21	90203	genome.wustl.edu	37	20	44469004	44469004	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:44469004delA	ENST00000491381.1	+	4	515				SNX21_ENST00000342644.5_Intron|SNX21_ENST00000372541.1_Intron|SNX21_ENST00000462307.1_Intron|SNX21_ENST00000372542.1_Intron|SNX21_ENST00000344780.4_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21						protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				AAGGGAGTACAAAAAAAGGGG	0.512																																						dbGAP											0													86.0	105.0	99.0					20																	44469004		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.448-274A>-	20.37:g.44469004delA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	RNA	DEL	-	NULL	ENST00000491381.1	37	NULL	CCDS13377.1	20																																																																																			SNX21	-	-	ENSG00000124104		0.512	SNX21-010	KNOWN	basic|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000079534.1	165	0.00	0	A	NM_033421		44469004	44469004	+1	no_errors	ENST00000465997	ensembl	human	known	69_37n	rna	139	25.26	49	DEL	0.000	-
SOHLH2	54937	genome.wustl.edu	37	13	36776201	36776201	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:36776201A>G	ENST00000379881.3	-	2	166	c.78T>C	c.(76-78)gaT>gaC	p.D26D	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.D103D|SOHLH2_ENST00000317764.6_Silent_p.D26D|SOHLH2_ENST00000554962.1_Silent_p.D103D	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	26					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCACAGTGACATCTCCAACTA	0.443																																						dbGAP											0													99.0	76.0	84.0					13																	36776201		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.78T>C	13.37:g.36776201A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D103	ENST00000379881.3	37	c.309	CCDS9355.1	13																																																																																			SOHLH2	-	NULL	ENSG00000120669		0.443	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	143	0.69	1	A	NM_017826		36776201	36776201	-1	no_errors	ENST00000554962	ensembl	human	known	69_37n	silent	93	38.00	57	SNP	0.999	G
SORCS3	22986	genome.wustl.edu	37	10	107012633	107012633	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:107012633G>T	ENST00000369701.3	+	23	3433	c.3206G>T	c.(3205-3207)aGg>aTg	p.R1069M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1069					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGACAGAGAGGAGGAAAGGC	0.522																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											0													124.0	130.0	128.0					10																	107012633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3206G>T	10.37:g.107012633G>T	ENSP00000358715:p.Arg1069Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R1069M	ENST00000369701.3	37	c.3206	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.168106	0.94768	.	.	ENSG00000156395	ENST00000369701	T	0.15834	2.39	5.82	5.82	0.92795	.	0.111173	0.64402	D	0.000012	T	0.32823	0.0842	L	0.56769	1.78	0.54753	D	0.999987	D	0.57571	0.98	P	0.53146	0.719	T	0.00371	-1.1782	9	.	.	.	.	20.0897	0.97814	0.0:0.0:1.0:0.0	.	1069	Q9UPU3	SORC3_HUMAN	M	1069	ENSP00000358715:R1069M	.	R	+	2	0	SORCS3	107002623	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.260000	0.51523	2.744000	0.94065	0.655000	0.94253	AGG	SORCS3	-	NULL	ENSG00000156395		0.522	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	356	0.00	0	G	NM_014978		107012633	107012633	+1	no_errors	ENST00000369701	ensembl	human	known	69_37n	missense	337	29.20	139	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121475905	121475905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:121475905delA	ENST00000260197.7	+	34	4864	c.4735delA	c.(4735-4737)aaafs	p.K1580fs	SORL1_ENST00000532694.1_Frame_Shift_Del_p.K426fs|SORL1_ENST00000525532.1_Frame_Shift_Del_p.K524fs|SORL1_ENST00000527934.1_Frame_Shift_Del_p.K195fs|SORL1_ENST00000534286.1_Frame_Shift_Del_p.K490fs	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1580	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATGAGGCCCAAAAAAATGCC	0.438																																						dbGAP											0													150.0	149.0	149.0					11																	121475905		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4735delA	11.37:g.121475905delA	ENSP00000260197:p.Lys1580fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX7|Q92856	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.M1581fs	ENST00000260197.7	37	c.4735	CCDS8436.1	11																																																																																			SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.438	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	350	0.00	0	A	NM_003105		121475905	121475905	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	frame_shift_del	256	33.92	135	DEL	1.000	-
SOX10	6663	genome.wustl.edu	37	22	38369999	38369999	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:38369999G>A	ENST00000396884.2	-	4	1186	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S	SOX10_ENST00000360880.2_Missense_Mutation_p.P302S|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	302					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCATTGGGCGGCAGGTACTGG	0.607																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	dbGAP											0													89.0	79.0	82.0					22																	38369999		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.904C>T	22.37:g.38369999G>A	ENSP00000380093:p.Pro302Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DV62|Q6FHW7	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P302S	ENST00000396884.2	37	c.904	CCDS13964.1	22	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213019	0.79352	.	.	ENSG00000100146	ENST00000396884;ENST00000360880	T;T	0.80566	-1.39;-1.39	4.68	4.68	0.58851	.	0.128208	0.53938	D	0.000058	D	0.91106	0.7200	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.93047	0.6462	10	0.72032	D	0.01	.	17.6477	0.88153	0.0:0.0:1.0:0.0	.	302	P56693	SOX10_HUMAN	S	302	ENSP00000380093:P302S;ENSP00000354130:P302S	ENSP00000354130:P302S	P	-	1	0	SOX10	36699945	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.841000	0.99482	2.147000	0.66899	0.436000	0.28706	CCG	SOX10	-	NULL	ENSG00000100146		0.607	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	88	0.00	0	G	NM_006941		38369999	38369999	-1	no_errors	ENST00000360880	ensembl	human	known	69_37n	missense	80	27.93	31	SNP	1.000	A
SOX13	9580	genome.wustl.edu	37	1	204091056	204091056	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:204091056delC	ENST00000367204.1	+	8	913	c.804delC	c.(802-804)agcfs	p.S268fs		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	268	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCTGCACAGCCCCCCTGCCC	0.632																																						dbGAP											0													40.0	42.0	41.0					1																	204091056		2018	4183	6201	-	-	-	SO:0001589	frameshift_variant	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.804delC	1.37:g.204091056delC	ENSP00000356172:p.Ser268fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Frame_Shift_Del	DEL	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P270fs	ENST00000367204.1	37	c.804	CCDS44299.1	1																																																																																			SOX13	-	NULL	ENSG00000143842		0.632	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	157	0.00	0	C	NM_005686		204091056	204091056	+1	no_errors	ENST00000367204	ensembl	human	known	69_37n	frame_shift_del	274	15.06	50	DEL	1.000	-
SP100	6672	genome.wustl.edu	37	2	231379990	231379990	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:231379990delA	ENST00000264052.5	+	25	2630	c.2275delA	c.(2275-2277)aaafs	p.K762fs	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	762	Poly-Lys.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAAAGGGGAGAAAAAAAAGAA	0.418																																						dbGAP											0													51.0	57.0	55.0					2																	231379990		2198	4295	6493	-	-	-	SO:0001589	frameshift_variant	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2275delA	2.37:g.231379990delA	ENSP00000264052:p.Lys762fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Frame_Shift_Del	DEL	pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily	p.K761fs	ENST00000264052.5	37	c.2275	CCDS2477.1	2																																																																																			SP100	-	superfamily_HMG_superfamily	ENSG00000067066		0.418	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	318	0.31	1	A	NM_003113		231379990	231379990	+1	no_errors	ENST00000264052	ensembl	human	known	69_37n	frame_shift_del	210	31.85	100	DEL	1.000	-
SP100	6672	genome.wustl.edu	37	2	231380093	231380093	+	Missense_Mutation	SNP	G	G	A	rs368346854		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:231380093G>A	ENST00000264052.5	+	25	2733	c.2378G>A	c.(2377-2379)gGc>gAc	p.G793D	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	793					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACATCCTGGCCTGTCCATT	0.463																																						dbGAP											0													60.0	63.0	62.0					2																	231380093		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2378G>A	2.37:g.231380093G>A	ENSP00000264052:p.Gly793Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily	p.G793D	ENST00000264052.5	37	c.2378	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236807	0.58886	.	.	ENSG00000067066	ENST00000264052	D	0.93307	-3.2	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.93996	0.8077	L	0.61036	1.89	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.89861	0.4016	9	0.30078	T	0.28	.	6.0348	0.19702	5.0E-4:0.0:0.9995:0.0	.	793	P23497	SP100_HUMAN	D	793	ENSP00000264052:G793D	ENSP00000264052:G793D	G	+	2	0	SP100	231088337	1.000000	0.71417	0.443000	0.26883	0.445000	0.32107	6.480000	0.73604	0.202000	0.20498	0.205000	0.17691	GGC	SP100	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000067066		0.463	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	191	0.52	1	G	NM_003113		231380093	231380093	+1	no_errors	ENST00000264052	ensembl	human	known	69_37n	missense	111	38.33	69	SNP	1.000	A
SPDYE3	441272	genome.wustl.edu	37	7	99912208	99912208	+	Silent	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:99912208A>C	ENST00000332397.6	+	6	1220	c.1036A>C	c.(1036-1038)Agg>Cgg	p.R346R	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	346										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CAAAAGGAAGAGGGAGTGTTT	0.572																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1036A>C	7.37:g.99912208A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495Y9|Q6PHC4	Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.R346	ENST00000332397.6	37	c.1036	CCDS47658.2	7																																																																																			SPDYE3	-	NULL	ENSG00000214300		0.572	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	172	0.00	0	A	NM_001004351		99912208	99912208	+1	no_errors	ENST00000332397	ensembl	human	known	69_37n	silent	44	73.84	127	SNP	0.036	C
SPG11	80208	genome.wustl.edu	37	15	44898236	44898236	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:44898236T>C	ENST00000261866.7	-	20	3523	c.3507A>G	c.(3505-3507)acA>acG	p.T1169T	SPG11_ENST00000535302.2_Silent_p.T1169T|SPG11_ENST00000427534.2_Silent_p.T1169T|SPG11_ENST00000558319.1_Silent_p.T1169T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1169					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTATAGCTAGTGTGTTAGCAG	0.368																																						dbGAP											0													100.0	92.0	94.0					15																	44898236		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3507A>G	15.37:g.44898236T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.H79R	ENST00000261866.7	37	c.236	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	218	0.00	0	T			44898236	44898236	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000559754	ensembl	human	putative	69_37n	missense	156	37.60	94	SNP	0.750	C
SPG7	6687	genome.wustl.edu	37	16	89598370	89598371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:89598370_89598371insC	ENST00000268704.2	+	8	1061_1062	c.1046_1047insC	c.(1045-1050)ggccccfs	p.GP349fs	RNU7-117P_ENST00000516770.1_RNA|SPG7_ENST00000341316.2_Frame_Shift_Ins_p.GP349fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	349			G -> S (in SPG7; function impaired; dbSNP:rs141659620). {ECO:0000269|PubMed:20186691}.		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGCTGCTCGGCCCCCCCGGCT	0.649																																						dbGAP											0									,	8,4254		0,8,2123					,	5.8	0.6			38	9,8245		0,9,4118	no	frameshift,frameshift	SPG7	NM_199367.1,NM_003119.2	,	0,17,6241	A1A1,A1R,RR		0.109,0.1877,0.1358	,	,		17,12499				-	-	-	SO:0001589	frameshift_variant	0			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1053dupC	16.37:g.89598377_89598377dupC	ENSP00000268704:p.Gly349fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	p.G352fs	ENST00000268704.2	37	c.1046_1047	CCDS10977.1	16																																																																																			SPG7	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,tigrfam_FtsH	ENSG00000197912		0.649	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG7	HGNC	protein_coding	OTTHUMT00000269921.2	146	0.00	0	-	NM_003119		89598370	89598371	+1	no_errors	ENST00000268704	ensembl	human	known	69_37n	frame_shift_ins	96	26.72	35	INS	1.000:0.002	C
SPI1	6688	genome.wustl.edu	37	11	47399861	47399861	+	Splice_Site	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:47399861delG	ENST00000378538.3	-	1	266	c.44delC	c.(43-45)cct>ct	p.P16fs	SPI1_ENST00000227163.4_Splice_Site_p.P15fs|SPI1_ENST00000533968.1_Splice_Site_p.P16fs|SPI1_ENST00000533030.1_Splice_Site_p.P15fs	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	16					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGTACTCACAGGGGGGACGAG	0.682																																						dbGAP											0													52.0	52.0	52.0					11																	47399861		2201	4298	6499	-	-	-	SO:0001630	splice_region_variant	0			X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.45+1C>-	11.37:g.47399861delG		Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.P15fs	ENST00000378538.3	37	c.44	CCDS7933.2	11																																																																																			SPI1	-	NULL	ENSG00000066336		0.682	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPI1	HGNC	protein_coding	OTTHUMT00000316571.1	112	0.00	0	G	NM_003120	Frame_Shift_Del	47399861	47399861	-1	no_errors	ENST00000227163	ensembl	human	known	69_37n	frame_shift_del	64	35.85	38	DEL	1.000	-
SPINK2	6691	genome.wustl.edu	37	4	57686740	57686740	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:57686740G>T	ENST00000248701.4	-	2	140	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	Y_RNA_ENST00000515990.1_RNA|SPINK2_ENST00000506738.1_Missense_Mutation_p.L71M|SPINK2_ENST00000504762.1_Missense_Mutation_p.L56M	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	21					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					TGAGGGATCAGAGAGGCTGTA	0.348																																						dbGAP											0													97.0	108.0	104.0					4																	57686740		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"""Serine peptidase inhibitors, Kazal type"""	11245	protein-coding gene	gene with protein product		605753	"""serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"""			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.61C>A	4.37:g.57686740G>T	ENSP00000248701:p.Leu21Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGH2	Missense_Mutation	SNP	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal	p.L21M	ENST00000248701.4	37	c.61	CCDS3508.1	4	.	.	.	.	.	.	.	.	.	.	G	8.964	0.971337	0.18736	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;T;T	0.79653	-1.29;-1.26;-1.15	3.27	-6.54	0.01860	.	.	.	.	.	T	0.59797	0.2220	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.41680	-0.9495	8	0.34782	T	0.22	-17.4469	2.1457	0.03787	0.2173:0.3256:0.3377:0.1193	.	21	P20155	ISK2_HUMAN	M	21;71;56	ENSP00000248701:L21M;ENSP00000425961:L71M;ENSP00000423858:L56M	ENSP00000248701:L21M	L	-	1	2	SPINK2	57381497	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.847000	0.01675	-1.531000	0.01749	-0.417000	0.06048	CTG	SPINK2	-	NULL	ENSG00000128040		0.348	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK2	HGNC	protein_coding	OTTHUMT00000250690.2	346	0.00	0	G	NM_021114		57686740	57686740	-1	no_errors	ENST00000248701	ensembl	human	known	69_37n	missense	204	41.71	146	SNP	0.000	T
SPOCK2	9806	genome.wustl.edu	37	10	73827373	73827373	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:73827373C>T	ENST00000373109.2	-	7	1151	c.707G>A	c.(706-708)aGc>aAc	p.S236N	SPOCK2_ENST00000317376.4_Missense_Mutation_p.S236N|SPOCK2_ENST00000536168.1_Missense_Mutation_p.S236N|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	236					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTTCCTACCGCTGGCCGGGCC	0.617																																						dbGAP											0													41.0	43.0	42.0					10																	73827373		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.707G>A	10.37:g.73827373C>T	ENSP00000362201:p.Ser236Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J767|Q6UW87	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.S236N	ENST00000373109.2	37	c.707	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698490	0.30142	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.54279	0.58;0.58	5.82	-0.914	0.10497	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	1.213820	0.05390	N	0.538911	T	0.33556	0.0867	N	0.17474	0.49	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.17561	-1.0365	10	0.17832	T	0.49	.	7.6053	0.28100	0.1041:0.1375:0.6369:0.1215	.	236	Q92563	TICN2_HUMAN	N	233;236;236	ENSP00000321108:S236N;ENSP00000439445:S236N	ENSP00000321108:S236N	S	-	2	0	SPOCK2	73497379	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.454000	0.21827	-0.187000	0.10516	0.561000	0.74099	AGC	SPOCK2	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000107742		0.617	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	79	0.00	0	C			73827373	73827373	-1	no_errors	ENST00000317376	ensembl	human	known	69_37n	missense	53	41.11	37	SNP	0.000	T
SPRR1A	6698	genome.wustl.edu	37	1	152957715	152957715	+	Silent	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:152957715T>A	ENST00000368762.1	+	1	9	c.9T>A	c.(7-9)tcT>tcA	p.S3S	SPRR1A_ENST00000307122.2_Silent_p.S3S			P35321	SPR1A_HUMAN	small proline-rich protein 1A	3	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATGAATTCTCAGCAGCAGA	0.458																																						dbGAP											0													103.0	106.0	105.0					1																	152957715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.9T>A	1.37:g.152957715T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN47|D3DV31|Q2M303|Q9UDG4	Silent	SNP	pfam_Cornifin	p.S3	ENST00000368762.1	37	c.9	CCDS1032.1	1																																																																																			SPRR1A	-	NULL	ENSG00000169474		0.458	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR1A	HGNC	protein_coding	OTTHUMT00000040062.1	244	0.00	0	T	NM_005987		152957715	152957715	+1	no_errors	ENST00000307122	ensembl	human	known	69_37n	silent	412	18.66	95	SNP	0.990	A
SPRYD3	84926	genome.wustl.edu	37	12	53460125	53460125	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:53460125C>T	ENST00000301463.4	-	10	1253	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	SPRYD3_ENST00000547837.1_Silent_p.E426E	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	389	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CATGCTCCGGCTCTATctctt	0.582											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													308.0	238.0	262.0					12																	53460125		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1167G>A	12.37:g.53460125C>T		Somatic	992	WXS	Illumina GAIIx	Phase_IV	B9EG99|Q96SK5	Missense_Mutation	SNP	NULL	p.A7T	ENST00000301463.4	37	c.19	CCDS8845.1	12																																																																																			SPRYD3	-	NULL	ENSG00000167778		0.582	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD3	HGNC	protein_coding	OTTHUMT00000407264.1	1049	0.29	3	C	NM_032840		53460125	53460125	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000547257	ensembl	human	known	69_37n	missense	595	38.28	369	SNP	0.992	T
SPTA1	6708	genome.wustl.edu	37	1	158644189	158644189	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:158644189T>C	ENST00000368147.4	-	10	1460	c.1280A>G	c.(1279-1281)cAa>cGa	p.Q427R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	427					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCAGCAGATTGAAATCGGTC	0.418																																						dbGAP											0													199.0	190.0	193.0					1																	158644189		1933	4132	6065	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1280A>G	1.37:g.158644189T>C	ENSP00000357129:p.Gln427Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q427R	ENST00000368147.4	37	c.1280	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578350	0.45902	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	5.28	5.28	0.74379	.	0.279028	0.19380	N	0.115700	T	0.14787	0.0357	L	0.39020	1.185	0.09310	N	0.999999	B	0.12630	0.006	B	0.20577	0.03	T	0.06006	-1.0851	10	0.30854	T	0.27	.	13.2215	0.59890	0.0:0.0:0.0:1.0	.	427	P02549	SPTA1_HUMAN	R	427	ENSP00000357130:Q427R;ENSP00000357129:Q427R	ENSP00000357129:Q427R	Q	-	2	0	SPTA1	156910813	1.000000	0.71417	0.762000	0.31397	0.695000	0.40330	4.989000	0.63870	2.217000	0.71921	0.533000	0.62120	CAA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	287	0.35	1	T	NM_003126		158644189	158644189	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	476	18.91	111	SNP	0.388	C
SPTB	6710	genome.wustl.edu	37	14	65260252	65260252	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:65260252C>T	ENST00000389721.5	-	13	2161	c.2129G>A	c.(2128-2130)gGg>gAg	p.G710E	SPTB_ENST00000542895.1_Missense_Mutation_p.G710E|SPTB_ENST00000556626.1_Missense_Mutation_p.G710E|SPTB_ENST00000389722.3_Missense_Mutation_p.G710E|SPTB_ENST00000389720.3_Missense_Mutation_p.G710E	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	710					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTGCGGGTGCCCAAACTGCTT	0.602																																						dbGAP											0													60.0	54.0	56.0					14																	65260252		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2129G>A	14.37:g.65260252C>T	ENSP00000374371:p.Gly710Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G710E	ENST00000389721.5	37	c.2129	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303049	0.81136	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.58510	1.815	0.58432	D	0.999996	D;D	0.67145	0.996;0.972	D;P	0.69479	0.964;0.877	T	0.64935	-0.6290	10	0.87932	D	0	.	16.7704	0.85535	0.0:1.0:0.0:0.0	.	710;714	P11277;Q59FP5	SPTB1_HUMAN;.	E	714;710;710;710;710;710	ENSP00000374372:G710E;ENSP00000451752:G710E;ENSP00000374371:G710E;ENSP00000443882:G710E;ENSP00000374370:G710E	ENSP00000374370:G710E	G	-	2	0	SPTB	64330005	0.981000	0.34729	1.000000	0.80357	0.930000	0.56654	2.687000	0.46976	2.320000	0.78422	0.561000	0.74099	GGG	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.602	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	68	0.00	0	C			65260252	65260252	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	missense	49	31.94	23	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66460468	66460468	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:66460468T>C	ENST00000533211.1	-	25	5289	c.4958A>G	c.(4957-4959)gAc>gGc	p.D1653G	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1653G|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1653G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1653					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCAATCATGTCCTGGCTGCT	0.667																																						dbGAP											0													82.0	89.0	87.0					11																	66460468		2200	4293	6493	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4958A>G	11.37:g.66460468T>C	ENSP00000432568:p.Asp1653Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.D1653G	ENST00000533211.1	37	c.4958	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890176	0.33348	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50813	0.73;0.73;0.73	4.7	4.7	0.59300	.	0.344682	0.31347	N	0.007815	T	0.23249	0.0562	N	0.02842	-0.48	0.38929	D	0.957908	B	0.09022	0.002	B	0.11329	0.006	T	0.12528	-1.0544	10	0.16420	T	0.52	.	13.266	0.60133	0.0:0.0:0.0:1.0	.	1653	O15020	SPTN2_HUMAN	G	1653	ENSP00000432568:D1653G;ENSP00000311489:D1653G;ENSP00000433593:D1653G	ENSP00000311489:D1653G	D	-	2	0	SPTBN2	66217044	0.996000	0.38824	0.999000	0.59377	0.777000	0.43975	3.975000	0.56859	1.973000	0.57446	0.379000	0.24179	GAC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.667	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	68	0.00	0	T	NM_006946		66460468	66460468	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	57	32.94	28	SNP	0.977	C
SPTLC1	10558	genome.wustl.edu	37	9	94843197	94843197	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:94843197G>A	ENST00000262554.2	-	4	314	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Silent_p.F103F	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	103					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TAAATGAGGCGAAGTTTATAC	0.378																																						dbGAP											0													136.0	114.0	121.0					9																	94843197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.309C>T	9.37:g.94843197G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K681|Q5VWB4|Q96IX6	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F103	ENST00000262554.2	37	c.309	CCDS6692.1	9																																																																																			SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000090054		0.378	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	436	0.23	1	G	NM_006415		94843197	94843197	-1	no_errors	ENST00000262554	ensembl	human	known	69_37n	silent	295	31.87	138	SNP	0.993	A
SRCAP	10847	genome.wustl.edu	37	16	30736371	30736371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:30736371delC	ENST00000262518.4	+	25	6011	c.5626delC	c.(5626-5628)cccfs	p.P1880fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1818fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1722fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1880	Pro-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)			TCGACGCCAGCCCCCCCCACC	0.567																																						dbGAP											0													55.0	67.0	63.0					16																	30736371		2197	4295	6492	-	-	-	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.5626delC	16.37:g.30736371delC	ENSP00000262518:p.Pro1880fs	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.P1878fs	ENST00000262518.4	37	c.5626	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.567	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	46	0.00	0	C	NM_006662		30736371	30736371	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	frame_shift_del	38	29.63	16	DEL	1.000	-
SRPK2	6733	genome.wustl.edu	37	7	104801039	104801039	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:104801039A>G	ENST00000393651.3	-	7	623	c.536T>C	c.(535-537)gTa>gCa	p.V179A	SRPK2_ENST00000489828.1_Missense_Mutation_p.V168A|SRPK2_ENST00000357311.3_Missense_Mutation_p.V168A	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTGGCCAAGTACTTCGAAGAC	0.478																																						dbGAP											0													204.0	160.0	175.0					7																	104801039		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.536T>C	7.37:g.104801039A>G	ENSP00000377262:p.Val179Ala	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	p.V179A	ENST00000393651.3	37	c.536	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829951	0.91036	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	N	0.16708	0.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.15206	-1.0445	10	0.51188	T	0.08	-17.0584	16.1708	0.81812	1.0:0.0:0.0:0.0	.	179;168	P78362-2;P78362	.;SRPK2_HUMAN	A	179;168;168;216	ENSP00000377262:V179A;ENSP00000349863:V168A;ENSP00000419791:V168A;ENSP00000419240:V216A	ENSP00000349863:V168A	V	-	2	0	SRPK2	104588275	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	9.287000	0.95975	2.225000	0.72522	0.533000	0.62120	GTA	SRPK2	-	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	ENSG00000135250		0.478	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	359	0.00	0	A	NM_182691		104801039	104801039	-1	no_errors	ENST00000393651	ensembl	human	known	69_37n	missense	250	30.17	108	SNP	1.000	G
SRPR	6734	genome.wustl.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438																																						dbGAP											2	Deletion - Frameshift(2)	ovary(2)											347.0	340.0	342.0					11																	126137087		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.509delA	11.37:g.126137087delT	ENSP00000328023:p.Lys170fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.K170fs	ENST00000332118.6	37	c.509	CCDS31717.1	11																																																																																			SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N	ENSG00000182934		0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	1203	0.25	3	T	NM_003139		126137087	126137087	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	frame_shift_del	758	30.90	355	DEL	0.991	-
SSH1	54434	genome.wustl.edu	37	12	109182841	109182841	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:109182841C>A	ENST00000326495.5	-	15	2166	c.2073G>T	c.(2071-2073)gtG>gtT	p.V691V	SSH1_ENST00000360239.3_Silent_p.V379V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	691					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAAGTGGGCCACAGGGGAGG	0.672																																						dbGAP											0													39.0	40.0	40.0					12																	109182841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2073G>T	12.37:g.109182841C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.V691	ENST00000326495.5	37	c.2073	CCDS9121.1	12																																																																																			SSH1	-	NULL	ENSG00000084112		0.672	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	78	0.00	0	C	NM_018984		109182841	109182841	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	silent	60	40.59	41	SNP	0.024	A
SSH3	54961	genome.wustl.edu	37	11	67072316	67072316	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:67072316G>T	ENST00000308127.4	+	3	355	c.177G>T	c.(175-177)gaG>gaT	p.E59D	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.E59D|SSH3_ENST00000376757.5_Missense_Mutation_p.E59D	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	59					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ATGCAGCAGAGGCCAGTTCTG	0.627																																						dbGAP											0													56.0	56.0	56.0					11																	67072316		2199	4295	6494	-	-	-	SO:0001583	missense	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.177G>T	11.37:g.67072316G>T	ENSP00000312081:p.Glu59Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E59D	ENST00000308127.4	37	c.177	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545172	0.27652	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.32515	3.75;1.45;3.83	4.65	2.71	0.32032	.	1.034320	0.07689	N	0.938441	T	0.25082	0.0609	L	0.33485	1.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27739	-1.0065	10	0.26408	T	0.33	-1.5354	10.9391	0.47262	0.0:0.3681:0.6319:0.0	.	59	Q8TE77	SSH3_HUMAN	D	59	ENSP00000312081:E59D;ENSP00000310055:E59D;ENSP00000365948:E59D	ENSP00000312081:E59D	E	+	3	2	SSH3	66828892	0.785000	0.28726	0.059000	0.19551	0.201000	0.24016	1.331000	0.33793	0.543000	0.28864	0.561000	0.74099	GAG	SSH3	-	NULL	ENSG00000172830		0.627	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	115	0.00	0	G	NM_018276		67072316	67072316	+1	no_errors	ENST00000308127	ensembl	human	known	69_37n	missense	67	31.63	31	SNP	0.015	T
SSTR4	6754	genome.wustl.edu	37	20	23016519	23016519	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:23016519C>T	ENST00000255008.3	+	1	463	c.399C>T	c.(397-399)agC>agT	p.S133S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	133					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTTCACCAGCGTCTTCTGTC	0.701																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0													84.0	84.0	84.0					20																	23016519		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.399C>T	20.37:g.23016519C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.S133	ENST00000255008.3	37	c.399	CCDS42856.1	20																																																																																			SSTR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_NPY_rcpt	ENSG00000132671		0.701	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	113	0.00	0	C			23016519	23016519	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	silent	58	29.27	24	SNP	0.998	T
ST6GALNAC1	55808	genome.wustl.edu	37	17	74623564	74623564	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:74623564G>A	ENST00000156626.7	-	3	1132	c.933C>T	c.(931-933)aaC>aaT	p.N311N	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	311					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						ACTCACTCTGGTTGAAGTGTC	0.547																																						dbGAP											0													129.0	113.0	119.0					17																	74623564		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.933C>T	17.37:g.74623564G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UW90|Q9NSC6	Silent	SNP	pfam_Glyco_trans_29	p.N311	ENST00000156626.7	37	c.933	CCDS11748.1	17																																																																																			ST6GALNAC1	-	pfam_Glyco_trans_29	ENSG00000070526		0.547	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	199	0.00	0	G	NM_018414		74623564	74623564	-1	no_errors	ENST00000156626	ensembl	human	known	69_37n	silent	380	14.00	62	SNP	0.936	A
ST6GALNAC3	256435	genome.wustl.edu	37	1	76779584	76779584	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:76779584A>G	ENST00000328299.3	+	2	261	c.113A>G	c.(112-114)aAc>aGc	p.N38S		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	38					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TTGCTACTAAACTGCTTTGGA	0.438																																						dbGAP											0													206.0	180.0	189.0					1																	76779584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.113A>G	1.37:g.76779584A>G	ENSP00000329214:p.Asn38Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.N38S	ENST00000328299.3	37	c.113	CCDS672.1	1	.	.	.	.	.	.	.	.	.	.	A	2.442	-0.328441	0.05314	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.29397	1.57	5.26	3.92	0.45320	.	0.345390	0.33401	N	0.004943	T	0.05044	0.0135	N	0.14661	0.345	0.32802	D	0.500241	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.32052	-0.9921	10	0.09084	T	0.74	-14.6416	6.9521	0.24550	0.7583:0.1524:0.0893:0.0	.	38;38	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	S	38;38;37	ENSP00000329214:N38S	ENSP00000329214:N38S	N	+	2	0	ST6GALNAC3	76552172	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.459000	0.35234	1.992000	0.58205	0.402000	0.26972	AAC	ST6GALNAC3	-	NULL	ENSG00000184005		0.438	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	551	0.00	0	A	NM_152996		76779584	76779584	+1	no_errors	ENST00000328299	ensembl	human	known	69_37n	missense	362	40.26	244	SNP	1.000	G
ST7	7982	genome.wustl.edu	37	7	116776248	116776248	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:116776248A>G	ENST00000393446.2	+	7	1058	c.755A>G	c.(754-756)cAg>cGg	p.Q252R	ST7-AS2_ENST00000442719.1_RNA|ST7-AS2_ENST00000432541.1_RNA|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000393443.1_Missense_Mutation_p.Q202R|ST7_ENST00000393451.3_Missense_Mutation_p.Q252R|ST7_ENST00000393449.1_Missense_Mutation_p.Q275R|ST7_ENST00000393444.3_Missense_Mutation_p.Q209R|ST7_ENST00000465133.1_Missense_Mutation_p.Q209R|ST7_ENST00000265437.5_Missense_Mutation_p.Q275R|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000432298.1_Missense_Mutation_p.Q229R|ST7_ENST00000323984.3_Missense_Mutation_p.Q275R|ST7_ENST00000422922.1_Missense_Mutation_p.Q206R|ST7_ENST00000393447.4_Missense_Mutation_p.Q232R			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CGACGCTCTCAGCAGCTACAA	0.433																																						dbGAP											0													114.0	107.0	109.0					7																	116776248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.755A>G	7.37:g.116776248A>G	ENSP00000377092:p.Gln252Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_ST7	p.Q275R	ENST00000393446.2	37	c.824		7	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120223	0.56613	.	.	ENSG00000004866	ENST00000393446;ENST00000265437;ENST00000393451;ENST00000323984;ENST00000393449;ENST00000446490;ENST00000432298;ENST00000422922;ENST00000393443;ENST00000465133;ENST00000393447;ENST00000393444;ENST00000490039	T;T;T;T;T;T;T;T;T;T;T;T;T	0.75477	2.23;2.23;2.23;-0.94;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.39	5.39	0.77823	Tetratricopeptide-like helical (1);	0.102685	0.64402	D	0.000001	D	0.85647	0.5745	M	0.77820	2.39	0.80722	D	1	D;B;P;B;B;B;P;B	0.54964	0.969;0.02;0.891;0.007;0.007;0.005;0.779;0.009	D;B;B;B;B;B;B;B	0.70227	0.968;0.022;0.389;0.011;0.006;0.013;0.199;0.029	D	0.86075	0.1540	10	0.46703	T	0.11	-12.2572	15.5689	0.76317	1.0:0.0:0.0:0.0	.	223;232;252;252;202;229;252;275	C9JU30;B7Z4L1;B7Z573;Q9NRC1-7;Q9NRC1-6;B7Z4U3;Q9NRC1-2;Q9NRC1	.;.;.;.;.;.;.;ST7_HUMAN	R	252;275;252;275;275;252;229;206;202;209;232;209;223	ENSP00000377092:Q252R;ENSP00000265437:Q275R;ENSP00000377097:Q252R;ENSP00000325673:Q275R;ENSP00000377095:Q275R;ENSP00000402934:Q252R;ENSP00000411118:Q229R;ENSP00000414031:Q206R;ENSP00000377089:Q202R;ENSP00000420052:Q209R;ENSP00000377093:Q232R;ENSP00000377090:Q209R;ENSP00000419516:Q223R	ENSP00000265437:Q275R	Q	+	2	0	ST7	116563484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.437000	0.73421	2.266000	0.75297	0.533000	0.62120	CAG	ST7	-	pfam_ST7	ENSG00000004866		0.433	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000319687.1	212	0.00	0	A	NM_021908		116776248	116776248	+1	no_errors	ENST00000265437	ensembl	human	known	69_37n	missense	138	38.39	86	SNP	1.000	G
STC1	6781	genome.wustl.edu	37	8	23708938	23708938	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:23708938T>C	ENST00000290271.2	-	3	651	c.368A>G	c.(367-369)gAg>gGg	p.E123G	STC1_ENST00000524323.1_Missense_Mutation_p.E54G	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	123					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTCCTGCACCTCAGCAATCAT	0.542																																						dbGAP											0													173.0	155.0	161.0					8																	23708938		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.368A>G	8.37:g.23708938T>C	ENSP00000290271:p.Glu123Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN22|Q71UE5	Missense_Mutation	SNP	pfam_Stanniocalcin	p.E123G	ENST00000290271.2	37	c.368	CCDS6043.1	8	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930081	0.73327	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.93	5.93	0.95920	.	0.086033	0.85682	D	0.000000	T	0.66489	0.2794	L	0.54323	1.7	0.80722	D	1	P	0.38711	0.643	P	0.45377	0.478	T	0.69654	-0.5087	9	0.87932	D	0	-16.6901	15.2183	0.73288	0.0:0.0:0.0:1.0	.	123	P52823	STC1_HUMAN	G	123;54;54	.	ENSP00000290271:E123G	E	-	2	0	STC1	23764883	1.000000	0.71417	0.997000	0.53966	0.872000	0.50106	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	GAG	STC1	-	pfam_Stanniocalcin	ENSG00000159167		0.542	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC1	HGNC	protein_coding	OTTHUMT00000215143.1	330	0.30	1	T			23708938	23708938	-1	no_errors	ENST00000290271	ensembl	human	known	69_37n	missense	241	34.33	126	SNP	1.000	C
STK16	8576	genome.wustl.edu	37	2	220111841	220111841	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:220111841A>G	ENST00000409638.3	+	4	485	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	STK16_ENST00000409260.1_Missense_Mutation_p.T150A|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000409743.1_Missense_Mutation_p.T105A|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000396738.2_Missense_Mutation_p.T105A|STK16_ENST00000409516.3_Intron|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000486813.1_3'UTR	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGAGAGGTACGCTGTGGAA	0.512																																					Pancreas(34;887 922 17165 36961 39622)	dbGAP											0													72.0	76.0	74.0					2																	220111841		2016	4168	6184	-	-	-	SO:0001583	missense	0			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.313A>G	2.37:g.220111841A>G	ENSP00000386928:p.Thr105Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	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	p.T105A	ENST00000409638.3	37	c.313	CCDS42822.1	2	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747692	0.69533	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.75154	2.01;2.01;-0.91;2.01	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100958	0.64402	D	0.000003	D	0.84584	0.5504	M	0.84156	2.68	0.58432	D	0.999997	P;D;P;P	0.57899	0.953;0.981;0.94;0.953	P;P;P;P	0.58077	0.804;0.832;0.684;0.549	D	0.86065	0.1534	10	0.48119	T	0.1	-11.0117	15.4038	0.74861	1.0:0.0:0.0:0.0	.	105;105;150;105	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	A	105;105;150;105	ENSP00000386928:T105A;ENSP00000379964:T105A;ENSP00000387156:T150A;ENSP00000386553:T105A	ENSP00000379964:T105A	T	+	1	0	STK16	219820085	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.013000	0.76373	2.044000	0.60594	0.533000	0.62120	ACG	STK16	-	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	ENSG00000115661		0.512	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK16	HGNC	protein_coding	OTTHUMT00000335679.1	247	0.00	0	A			220111841	220111841	+1	no_errors	ENST00000396738	ensembl	human	known	69_37n	missense	159	38.61	100	SNP	0.990	G
STK11IP	114790	genome.wustl.edu	37	2	220473024	220473024	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:220473024C>T	ENST00000456909.1	+	14	1565	c.1475C>T	c.(1474-1476)gCg>gTg	p.A492V	STK11IP_ENST00000295641.10_Missense_Mutation_p.A503V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	503	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGTCAGGGCGGAGCCACag	0.627																																						dbGAP											0													11.0	14.0	13.0					2																	220473024		2017	4168	6185	-	-	-	SO:0001583	missense	0			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1475C>T	2.37:g.220473024C>T	ENSP00000389383:p.Ala492Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.A492V	ENST00000456909.1	37	c.1475		2	.	.	.	.	.	.	.	.	.	.	C	9.432	1.085780	0.20390	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.04654	3.58;3.58	4.89	-6.23	0.02052	.	2.125810	0.02009	N	0.046847	T	0.01489	0.0048	N	0.01048	-1.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45425	-0.9262	10	0.22109	T	0.4	2.0701	3.3996	0.07319	0.1116:0.3868:0.1139:0.3877	.	471;503;503	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	V	492;471;503	ENSP00000389383:A492V;ENSP00000295641:A503V	ENSP00000295641:A503V	A	+	2	0	STK11IP	220181268	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.502000	0.06390	-0.618000	0.05656	-0.648000	0.03929	GCG	STK11IP	-	NULL	ENSG00000144589		0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	42	0.00	0	C	NM_052902		220473024	220473024	+1	no_errors	ENST00000456909	ensembl	human	novel	69_37n	missense	23	44.44	20	SNP	0.000	T
STK32C	282974	genome.wustl.edu	37	10	134038860	134038860	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:134038860delA	ENST00000368622.1	-	7	803				STK32C_ENST00000368625.4_Intron					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGAAAGAAGGAAAAACAGCTG	0.632																																						dbGAP											0													25.0	27.0	27.0					10																	134038860		2189	4289	6478	-	-	-	SO:0001627	intron_variant	0			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.422-20T>-	10.37:g.134038860delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000368622.1	37	NULL		10																																																																																			STK32C	-	-	ENSG00000165752		0.632	STK32C-001	KNOWN	basic	protein_coding	STK32C	HGNC	protein_coding	OTTHUMT00000051068.2	64	0.00	0	A	NM_173575		134038860	134038860	-1	no_errors	ENST00000478542	ensembl	human	known	69_37n	rna	43	29.03	18	DEL	0.000	-
STK32C	282974	genome.wustl.edu	37	10	134040317	134040317	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:134040317C>T	ENST00000368622.1	-	4	656	c.275G>A	c.(274-276)gGc>gAc	p.G92D	STK32C_ENST00000368625.4_Missense_Mutation_p.G222D					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GATGTGCTGGCCGCGCAGGTA	0.657																																						dbGAP											0													95.0	74.0	81.0					10																	134040317		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.275G>A	10.37:g.134040317C>T	ENSP00000357611:p.Gly92Asp	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	p.G222D	ENST00000368622.1	37	c.665		10	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124679	0.06795	.	.	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	T;T;T	0.23552	1.9;1.9;1.9	4.93	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.245204	0.32002	N	0.006738	T	0.13670	0.0331	N	0.02169	-0.655	0.09310	N	1	B;B;B	0.32467	0.372;0.009;0.0	B;B;B	0.39771	0.309;0.026;0.012	T	0.29671	-1.0004	10	0.23302	T	0.38	.	15.3823	0.74669	0.0:0.8599:0.1401:0.0	.	222;148;209	B7Z7J1;F2Z300;Q86UX6	.;.;ST32C_HUMAN	D	92;209;222	ENSP00000357611:G92D;ENSP00000298630:G209D;ENSP00000357614:G222D	ENSP00000298630:G209D	G	-	2	0	STK32C	133890307	0.073000	0.21202	0.007000	0.13788	0.021000	0.10359	1.373000	0.34272	1.090000	0.41315	-0.480000	0.04831	GGC	STK32C	-	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	ENSG00000165752		0.657	STK32C-001	KNOWN	basic	protein_coding	STK32C	HGNC	protein_coding	OTTHUMT00000051068.2	72	0.00	0	C	NM_173575		134040317	134040317	-1	no_errors	ENST00000368625	ensembl	human	known	69_37n	missense	47	30.43	21	SNP	0.057	T
STK33	65975	genome.wustl.edu	37	11	8413872	8413872	+	3'UTR	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:8413872T>C	ENST00000447869.1	-	0	2648				STK33_ENST00000396673.1_3'UTR|STK33_ENST00000396672.1_3'UTR|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_3'UTR|STK33_ENST00000358872.3_3'UTR|STK33_ENST00000315204.1_3'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33						protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TAATGCCATGTGCAGCTTATG	0.493																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.*185A>G	11.37:g.8413872T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q658S6|Q8NEF5	RNA	SNP	-	NULL	ENST00000447869.1	37	NULL	CCDS7789.1	11																																																																																			STK33	-	-	ENSG00000130413		0.493	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	47	0.00	0	T	NM_030906		8413872	8413872	-1	no_errors	ENST00000473980	ensembl	human	known	69_37n	rna	25	37.50	15	SNP	0.000	C
STPG1	90529	genome.wustl.edu	37	1	24727703	24727703	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:24727703G>A	ENST00000374409.1	-	2	325				STPG1_ENST00000468303.1_Intron|STPG1_ENST00000337248.4_Intron|STPG1_ENST00000003583.8_Intron|STPG1_ENST00000440416.1_Intron	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGTAAGGATGGCCCTGTGGAT	0.443																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.70+105C>T	1.37:g.24727703G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	RNA	SNP	-	NULL	ENST00000374409.1	37	NULL	CCDS55581.1	1																																																																																			STPG1	-	-	ENSG00000001460		0.443	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	147	0.00	0	G	NM_178122		24727703	24727703	-1	no_errors	ENST00000475760	ensembl	human	known	69_37n	rna	103	40.80	71	SNP	0.004	A
STXBP1	6812	genome.wustl.edu	37	9	130440790	130440790	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:130440790G>A	ENST00000373299.1	+	16	1555	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	STXBP1_ENST00000373302.3_Silent_p.P480P|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	480					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGTGGACTCCGATTATCAAGG	0.602																																						dbGAP											0													72.0	49.0	57.0					9																	130440790		2198	4289	6487	-	-	-	SO:0001819	synonymous_variant	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1440G>A	9.37:g.130440790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.P480	ENST00000373299.1	37	c.1440	CCDS35146.1	9																																																																																			STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.602	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	94	0.00	0	G	NM_003165		130440790	130440790	+1	no_errors	ENST00000373299	ensembl	human	known	69_37n	silent	74	32.73	36	SNP	0.001	A
SULT1C3	442038	genome.wustl.edu	37	2	108881321	108881321	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:108881321delA	ENST00000329106.2	+	6	662	c.662delA	c.(661-663)gaafs	p.E221fs		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	221					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAGTTCCTGGAAAAAGACATA	0.413																																						dbGAP											0													90.0	85.0	87.0					2																	108881321		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.662delA	2.37:g.108881321delA	ENSP00000333310:p.Glu221fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IMI5	Frame_Shift_Del	DEL	pfam_Sulfotransferase_dom	p.D223fs	ENST00000329106.2	37	c.662	CCDS33267.1	2																																																																																			SULT1C3	-	pfam_Sulfotransferase_dom	ENSG00000196228		0.413	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	HGNC	protein_coding	OTTHUMT00000330255.1	219	0.00	0	A	NM_001008743		108881321	108881321	+1	no_errors	ENST00000329106	ensembl	human	known	69_37n	frame_shift_del	160	33.06	80	DEL	1.000	-
SUPT6H	6830	genome.wustl.edu	37	17	27018009	27018009	+	Silent	SNP	G	G	A	rs371686401		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:27018009G>A	ENST00000314616.6	+	27	3844	c.3561G>A	c.(3559-3561)gcG>gcA	p.A1187A	SUPT6H_ENST00000347486.4_Silent_p.A1187A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGACCAGGCGATCCGCAATG	0.552																																						dbGAP											0													122.0	91.0	101.0					17																	27018009		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3561G>A	17.37:g.27018009G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.A1187	ENST00000314616.6	37	c.3561	CCDS32596.1	17																																																																																			SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.552	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	207	0.48	1	G	NM_003170		27018009	27018009	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	silent	234	25.87	82	SNP	0.374	A
SUSD2	56241	genome.wustl.edu	37	22	24582000	24582000	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:24582000C>G	ENST00000358321.3	+	9	1617	c.1356C>G	c.(1354-1356)gaC>gaG	p.D452E		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	452	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCTTCGGAGACCCACACTTTG	0.657																																						dbGAP											0													30.0	30.0	30.0					22																	24582000		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1356C>G	22.37:g.24582000C>G	ENSP00000351075:p.Asp452Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.D452E	ENST00000358321.3	37	c.1356	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	C	19.00	3.740931	0.69304	.	.	ENSG00000099994	ENST00000358321	T	0.60548	0.18	5.05	2.96	0.34315	von Willebrand factor, type D domain (3);	0.053767	0.64402	D	0.000001	T	0.74846	0.3770	M	0.86805	2.84	0.36332	D	0.85891	D	0.89917	1.0	D	0.91635	0.999	T	0.78748	-0.2083	10	0.72032	D	0.01	-40.999	7.4397	0.27176	0.0:0.7375:0.0:0.2625	.	452	Q9UGT4	SUSD2_HUMAN	E	452	ENSP00000351075:D452E	ENSP00000351075:D452E	D	+	3	2	SUSD2	22912000	0.995000	0.38212	0.998000	0.56505	0.739000	0.42172	0.334000	0.19787	0.670000	0.31165	0.555000	0.69702	GAC	SUSD2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000099994		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	27	0.00	0	C	NM_019601		24582000	24582000	+1	no_errors	ENST00000358321	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	G
SUV420H1	51111	genome.wustl.edu	37	11	67925677	67925677	+	Missense_Mutation	SNP	G	G	T	rs140333388		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:67925677G>T	ENST00000304363.4	-	11	2489	c.2136C>A	c.(2134-2136)aaC>aaA	p.N712K		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	712					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATCCCAGAGTTATTTTCTA	0.378																																						dbGAP											0													229.0	225.0	226.0					11																	67925677		2200	4294	6494	-	-	-	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2136C>A	11.37:g.67925677G>T	ENSP00000305899:p.Asn712Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.N712K	ENST00000304363.4	37	c.2136	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050243	0.36181	.	.	ENSG00000110066	ENST00000304363	T	0.51574	0.7	4.65	3.74	0.42951	.	0.225659	0.52532	D	0.000066	T	0.32971	0.0847	N	0.24115	0.695	0.80722	D	1	B	0.28713	0.22	B	0.21708	0.036	T	0.21552	-1.0242	10	0.62326	D	0.03	-14.6965	12.6114	0.56554	0.0799:0.0:0.9201:0.0	.	712	Q4FZB7	SV421_HUMAN	K	712	ENSP00000305899:N712K	ENSP00000305899:N712K	N	-	3	2	SUV420H1	67682253	1.000000	0.71417	0.354000	0.25760	0.929000	0.56500	4.282000	0.58971	1.188000	0.43014	0.313000	0.20887	AAC	SUV420H1	-	NULL	ENSG00000110066		0.378	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	453	0.00	0	G	NM_017635		67925677	67925677	-1	no_errors	ENST00000304363	ensembl	human	known	69_37n	missense	315	31.22	143	SNP	1.000	T
SYNE3	161176	genome.wustl.edu	37	14	95884327	95884327	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:95884327T>C	ENST00000334258.5	-	17	2778	c.2764A>G	c.(2764-2766)Agg>Ggg	p.R922G	SYNE3_ENST00000557275.1_Missense_Mutation_p.R917G|SYNE3_ENST00000554873.1_Missense_Mutation_p.R679G	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	922	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CAGCACGCCCTCCGGAAGAGG	0.662																																						dbGAP											0													52.0	47.0	48.0					14																	95884327		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2764A>G	14.37:g.95884327T>C	ENSP00000334308:p.Arg922Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.R922G	ENST00000334258.5	37	c.2764	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779090	0.49891	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.51574	0.7;0.7;0.7	4.67	2.24	0.28232	Klarsicht/ANC-1/syne-1 homology (2);	0.505809	0.14759	U	0.300105	T	0.62938	0.2469	M	0.82517	2.595	0.80722	D	1	P;P	0.51933	0.936;0.949	P;P	0.54590	0.642;0.756	T	0.66712	-0.5854	10	0.72032	D	0.01	-19.0977	11.3602	0.49638	0.0:0.0:0.6436:0.3564	.	917;922	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	G	922;679;917	ENSP00000334308:R922G;ENSP00000452154:R679G;ENSP00000450562:R917G	ENSP00000334308:R922G	R	-	1	2	C14orf49	94954080	0.987000	0.35691	0.689000	0.30133	0.915000	0.54546	3.448000	0.52943	0.592000	0.29728	0.240000	0.17902	AGG	SYNE3	-	pfam_KASH,pfscan_KASH	ENSG00000176438		0.662	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	66	0.00	0	T	NM_152592		95884327	95884327	-1	no_errors	ENST00000334258	ensembl	human	known	69_37n	missense	38	44.93	31	SNP	0.473	C
SYNJ2	8871	genome.wustl.edu	37	6	158516726	158516726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:158516726delC	ENST00000355585.4	+	27	3896	c.3821delC	c.(3820-3822)gccfs	p.A1274fs	SYNJ2_ENST00000367122.2_Frame_Shift_Del_p.A1229fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.A359fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1274	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCGTTGAGGCCCCTCCTGTC	0.562																																						dbGAP											0													56.0	60.0	59.0					6																	158516726		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3821delC	6.37:g.158516726delC	ENSP00000347792:p.Ala1274fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Del	DEL	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P1275fs	ENST00000355585.4	37	c.3821	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	130	0.00	0	C			158516726	158516726	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	frame_shift_del	85	34.56	47	DEL	0.000	-
SYT3	84258	genome.wustl.edu	37	19	51128491	51128491	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:51128491G>A	ENST00000338916.4	-	7	2268	c.1635C>T	c.(1633-1635)caC>caT	p.H545H	SYT3_ENST00000600079.1_Silent_p.H545H|SYT3_ENST00000593901.1_Silent_p.H545H|SYT3_ENST00000544769.1_Silent_p.H545H	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	545					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCTCGCGGCCGTGCGGGTCGG	0.692																																						dbGAP											0													30.0	26.0	27.0					19																	51128491		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1635C>T	19.37:g.51128491G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.H545	ENST00000338916.4	37	c.1635	CCDS12798.1	19																																																																																			SYT3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000213023		0.692	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	31	0.00	0	G	NM_032298		51128491	51128491	-1	no_errors	ENST00000338916	ensembl	human	known	69_37n	silent	21	31.25	10	SNP	0.996	A
SYT9	143425	genome.wustl.edu	37	11	7441852	7441852	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:7441852C>T	ENST00000318881.6	+	6	1690	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	485					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGCACACTGGCATTCCCTGGT	0.498																																						dbGAP											0													153.0	124.0	134.0					11																	7441852		2201	4296	6497	-	-	-	SO:0001583	missense	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1453C>T	11.37:g.7441852C>T	ENSP00000324419:p.His485Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.H485Y	ENST00000318881.6	37	c.1453	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527452	0.85706	.	.	ENSG00000170743	ENST00000318881	T	0.72167	-0.63	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000015	D	0.85831	0.5788	M	0.90759	3.145	0.80722	D	1	D	0.76494	0.999	P	0.62560	0.904	D	0.87729	0.2578	10	0.54805	T	0.06	.	17.1878	0.86871	0.0:1.0:0.0:0.0	.	485	Q86SS6	SYT9_HUMAN	Y	485	ENSP00000324419:H485Y	ENSP00000324419:H485Y	H	+	1	0	SYT9	7398428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.660000	0.90430	0.655000	0.94253	CAT	SYT9	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000170743		0.498	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	262	0.00	0	C	NM_175733		7441852	7441852	+1	no_errors	ENST00000318881	ensembl	human	known	69_37n	missense	206	37.31	125	SNP	1.000	T
SYTL2	54843	genome.wustl.edu	37	11	85420387	85420388	+	Frame_Shift_Ins	INS	-	-	T	rs185816238		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:85420387_85420388insT	ENST00000528231.1	-	12	2263_2264	c.1986_1987insA	c.(1984-1989)aaacagfs	p.Q663fs	SYTL2_ENST00000529581.1_Frame_Shift_Ins_p.Q105fs|SYTL2_ENST00000359152.5_Frame_Shift_Ins_p.Q1509fs|SYTL2_ENST00000316356.4_Frame_Shift_Ins_p.Q664fs|SYTL2_ENST00000524452.1_Frame_Shift_Ins_p.Q639fs|SYTL2_ENST00000525702.1_Frame_Shift_Ins_p.Q105fs|SYTL2_ENST00000533892.1_Frame_Shift_Ins_p.Q65fs|SYTL2_ENST00000527523.1_Frame_Shift_Ins_p.Q631fs|SYTL2_ENST00000389958.3_Frame_Shift_Ins_p.Q94fs|SYTL2_ENST00000525423.1_Frame_Shift_Ins_p.Q985fs|SYTL2_ENST00000389960.4_Frame_Shift_Ins_p.Q639fs|SYTL2_ENST00000354566.3_Frame_Shift_Ins_p.Q1001fs	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	663	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K663fs*8(1)|p.K1000fs*8(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTGAACGCTGTTTTTTTACAT	0.396																																						dbGAP											2	Deletion - Frameshift(2)	lung(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1987dupA	11.37:g.85420394_85420394dupT	ENSP00000431701:p.Gln663fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Frame_Shift_Ins	INS	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q1508fs	ENST00000528231.1	37	c.4525_4524	CCDS53688.1	11																																																																																			SYTL2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000137501		0.396	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	129	0.00	0	-	NM_206927		85420387	85420388	-1	no_errors	ENST00000359152	ensembl	human	known	69_37n	frame_shift_ins	96	38.06	59	INS	1.000:1.000	T
TAAR2	9287	genome.wustl.edu	37	6	132945414	132945414	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:132945414T>C	ENST00000367931.1	-	1	0	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	1					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GAGACAGCCATGGGAGGCAAG	0.398																																						dbGAP											0													132.0	113.0	119.0					6																	132945414		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.1A>G	6.37:g.132945414T>C	ENSP00000356908:p.Met1Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.M1V	ENST00000367931.1	37	c.1	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	T	9.238	1.037479	0.19669	.	.	ENSG00000146378	ENST00000367931	T	0.58506	0.33	3.28	2.1	0.27182	.	.	.	.	.	T	0.24122	0.0584	.	.	.	0.24087	N	0.995922	B	0.02656	0.0	B	0.01281	0.0	T	0.29336	-1.0015	8	0.87932	D	0	0.2549	5.2984	0.15764	0.0:0.1347:0.0:0.8653	.	1	Q9P1P5	TAAR2_HUMAN	V	1	ENSP00000356908:M1V	ENSP00000356908:M1V	M	-	1	0	TAAR2	132987107	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.099000	0.11007	0.630000	0.30394	0.528000	0.53228	ATG	TAAR2	-	NULL	ENSG00000146378		0.398	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	426	0.23	1	T	NM_014626	Missense_Mutation	132945414	132945414	-1	no_errors	ENST00000367931	ensembl	human	known	69_37n	missense	316	31.97	149	SNP	0.001	C
TACC2	10579	genome.wustl.edu	37	10	123847394	123847394	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:123847394C>T	ENST00000369005.1	+	4	5719	c.5379C>T	c.(5377-5379)tgC>tgT	p.C1793C	TACC2_ENST00000453444.2_Silent_p.C1793C|TACC2_ENST00000515273.1_Silent_p.C1793C|TACC2_ENST00000334433.3_Silent_p.C1793C|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.C1793C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1793					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAAGGTGTGCGTCTCCTCAC	0.582																																						dbGAP											0													47.0	45.0	46.0					10																	123847394		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5379C>T	10.37:g.123847394C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.C1793	ENST00000369005.1	37	c.5379	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	22	0.00	0	C			123847394	123847394	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	silent	21	44.74	17	SNP	0.005	T
TADA1	117143	genome.wustl.edu	37	1	166838699	166838699	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:166838699A>C	ENST00000367874.4	-	3	308	c.215T>G	c.(214-216)aTt>aGt	p.I72S		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	72					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGAAACCAAAATCTGACAACG	0.393																																						dbGAP											0													79.0	68.0	72.0					1																	166838699		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.215T>G	1.37:g.166838699A>C	ENSP00000356848:p.Ile72Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4J9	Missense_Mutation	SNP	superfamily_Histone-fold	p.I72S	ENST00000367874.4	37	c.215	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	A	9.977	1.227059	0.22542	.	.	ENSG00000152382	ENST00000367874	T	0.43688	0.94	5.74	5.74	0.90152	.	0.065010	0.64402	D	0.000004	T	0.09247	0.0228	N	0.11201	0.11	0.43014	D	0.994551	B;B	0.15719	0.006;0.014	B;B	0.17098	0.005;0.017	T	0.06058	-1.0848	9	0.05436	T	0.98	-11.2456	13.9905	0.64362	1.0:0.0:0.0:0.0	.	72;72	A8K4J9;Q96BN2	.;TADA1_HUMAN	S	72	ENSP00000356848:I72S	ENSP00000356848:I72S	I	-	2	0	TADA1	165105323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.644000	0.91044	2.185000	0.69588	0.533000	0.62120	ATT	TADA1	-	NULL	ENSG00000152382		0.393	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	245	0.00	0	A	NM_053053		166838699	166838699	-1	no_errors	ENST00000367874	ensembl	human	known	69_37n	missense	471	17.51	100	SNP	1.000	C
TAF1A	9015	genome.wustl.edu	37	1	222743947	222743947	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:222743947G>A	ENST00000352967.4	-	6	853	c.665C>T	c.(664-666)aCa>aTa	p.T222I	TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000366890.1_Missense_Mutation_p.T108I|TAF1A_ENST00000391882.1_Missense_Mutation_p.T108I|TAF1A_ENST00000350027.4_Missense_Mutation_p.T222I|TAF1A_ENST00000543857.1_Missense_Mutation_p.T222I	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	222					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATTTGCAGATGTCTTCCAGCT	0.343																																						dbGAP											0													102.0	106.0	105.0					1																	222743947		2203	4300	6503	-	-	-	SO:0001583	missense	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.665C>T	1.37:g.222743947G>A	ENSP00000327072:p.Thr222Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.T222I	ENST00000352967.4	37	c.665	CCDS1531.1	1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720576	0.48728	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.6	4.69	0.59074	.	0.143590	0.64402	D	0.000007	T	0.44705	0.1306	M	0.66939	2.045	0.26878	N	0.967607	P;P	0.45827	0.775;0.867	B;P	0.44897	0.295;0.463	T	0.46205	-0.9208	10	0.54805	T	0.06	-1.8013	9.88	0.41227	0.1582:0.0:0.8418:0.0	.	222;222	B4DS21;Q15573	.;TAF1A_HUMAN	I	108;222;222;108;184;184;222	ENSP00000355856:T108I;ENSP00000339976:T222I;ENSP00000327072:T222I;ENSP00000375754:T108I;ENSP00000375755:T184I;ENSP00000437725:T222I	ENSP00000339976:T222I	T	-	2	0	TAF1A	220810570	1.000000	0.71417	0.914000	0.36105	0.241000	0.25554	5.620000	0.67736	1.366000	0.46076	0.655000	0.94253	ACA	TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.343	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	147	0.00	0	G	NM_005681		222743947	222743947	-1	no_errors	ENST00000350027	ensembl	human	known	69_37n	missense	356	17.97	78	SNP	0.993	A
TAF1L	138474	genome.wustl.edu	37	9	32633699	32633699	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:32633699C>T	ENST00000242310.4	-	1	1968	c.1879G>A	c.(1879-1881)Ggg>Agg	p.G627R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	627					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGATGGGCCCCATGTGGGTG	0.512																																						dbGAP											0													78.0	85.0	82.0					9																	32633699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1879G>A	9.37:g.32633699C>T	ENSP00000418379:p.Gly627Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.G627R	ENST00000242310.4	37	c.1879	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053653	0.75960	.	.	ENSG00000122728	ENST00000242310	T	0.13657	2.57	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.73962	2.25	0.54753	D	0.999986	D	0.76494	0.999	D	0.79108	0.992	T	0.04307	-1.0961	10	0.87932	D	0	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	627	Q8IZX4	TAF1L_HUMAN	R	627	ENSP00000418379:G627R	ENSP00000418379:G627R	G	-	1	0	TAF1L	32623699	1.000000	0.71417	0.998000	0.56505	0.832000	0.47134	4.927000	0.63440	0.632000	0.30432	0.195000	0.17529	GGG	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000122728		0.512	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	381	0.00	0	C			32633699	32633699	-1	no_errors	ENST00000242310	ensembl	human	known	69_37n	missense	237	38.44	148	SNP	1.000	T
TAF5L	27097	genome.wustl.edu	37	1	229738112	229738112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:229738112C>A	ENST00000366676.1	-	3	801	c.802G>T	c.(802-804)Gag>Tag	p.E268*	TAF5L_ENST00000366675.3_Nonsense_Mutation_p.E268*|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.E268*			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	268					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				AACAGCTGCTCTGTGTTATAG	0.493																																						dbGAP											0													82.0	79.0	80.0					1																	229738112		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.802G>T	1.37:g.229738112C>A	ENSP00000355636:p.Glu268*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDI5|Q5TDI6|Q8IW31	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E268*	ENST00000366676.1	37	c.802	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.817339	0.97861	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-37.4939	20.0291	0.97531	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	.	E	-	1	0	TAF5L	227804735	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.468000	0.80943	2.738000	0.93877	0.650000	0.86243	GAG	TAF5L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000135801		0.493	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	170	0.00	0	C	NM_014409		229738112	229738112	-1	no_errors	ENST00000258281	ensembl	human	known	69_37n	nonsense	322	18.23	72	SNP	1.000	A
TAF5L	27097	genome.wustl.edu	37	1	229750174	229750174	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:229750174C>T	ENST00000366676.1	-	1	55	c.56G>A	c.(55-57)cGc>cAc	p.R19H	TAF5L_ENST00000366674.1_Missense_Mutation_p.R19H|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366675.3_Missense_Mutation_p.R19H|TAF5L_ENST00000258281.2_Missense_Mutation_p.R19H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	19					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTACTGCCGGCGTTTGAGGTA	0.567																																						dbGAP											0													111.0	95.0	101.0					1																	229750174		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.56G>A	1.37:g.229750174C>T	ENSP00000355636:p.Arg19His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R19H	ENST00000366676.1	37	c.56	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.638846	0.96693	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.60672	0.17;0.17;0.74	5.77	5.77	0.91146	.	0.049126	0.85682	D	0.000000	T	0.71013	0.3290	L	0.56769	1.78	0.80722	D	1	D;D	0.69078	0.997;0.989	P;P	0.59703	0.862;0.482	T	0.67799	-0.5577	9	.	.	.	-18.4859	20.0015	0.97412	0.0:1.0:0.0:0.0	.	19;19	O75529-2;O75529	.;TAF5L_HUMAN	H	19	ENSP00000355636:R19H;ENSP00000258281:R19H;ENSP00000355635:R19H	.	R	-	2	0	TAF5L	227816797	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.452000	0.80683	2.732000	0.93576	0.563000	0.77884	CGC	TAF5L	-	NULL	ENSG00000135801		0.567	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	218	0.00	0	C	NM_014409		229750174	229750174	-1	no_errors	ENST00000258281	ensembl	human	known	69_37n	missense	408	16.73	82	SNP	1.000	T
TAGLN	6876	genome.wustl.edu	37	11	117075065	117075065	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:117075065T>C	ENST00000532870.1	+	4	1737	c.596T>C	c.(595-597)aTc>aCc	p.I199T	TAGLN_ENST00000392951.4_Missense_Mutation_p.I199T|TAGLN_ENST00000530649.1_Missense_Mutation_p.I199T|PCSK7_ENST00000529458.1_5'Flank|PCSK7_ENST00000320934.3_3'UTR			Q01995	TAGL_HUMAN	transgelin	199					epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		CCTCGGCAGATCATCAGTTAG	0.647																																						dbGAP											0													55.0	57.0	56.0					11																	117075065		2201	4296	6497	-	-	-	SO:0001583	missense	0			M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.596T>C	11.37:g.117075065T>C	ENSP00000432282:p.Ile199Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O15542	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Transgelin	p.I199T	ENST00000532870.1	37	c.596	CCDS8381.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.117135|4.117135	0.77323|0.77323	.|.	.|.	ENSG00000149591|ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000530649;ENST00000532870|ENST00000529622	T;T;T;T;T|.	0.52754|.	0.65;0.65;0.65;0.65;0.65|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81118|0.81118	0.4756|0.4756	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.72625|.	0.978|.	D|D	0.85555|0.85555	0.1224|0.1224	10|5	0.87932|.	D|.	0|.	.|.	12.0485|12.0485	0.53493|0.53493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	199|.	Q01995|.	TAGL_HUMAN|.	T|P	199|149	ENSP00000376678:I199T;ENSP00000432054:I199T;ENSP00000278968:I199T;ENSP00000431941:I199T;ENSP00000432282:I199T|.	ENSP00000278968:I199T|.	I|S	+|+	2|1	0|0	TAGLN|TAGLN	116580275|116580275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.405000|7.405000	0.80007|0.80007	1.954000|1.954000	0.56735|0.56735	0.402000|0.402000	0.26972|0.26972	ATC|TCA	TAGLN	-	pfam_Calponin_repeat,pfscan_Calponin_repeat	ENSG00000149591		0.647	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TAGLN	HGNC	protein_coding	OTTHUMT00000392864.1	89	0.00	0	T	NM_001001522		117075065	117075065	+1	no_errors	ENST00000392951	ensembl	human	known	69_37n	missense	62	34.74	33	SNP	1.000	C
TAOK2	9344	genome.wustl.edu	37	16	29992997	29992997	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:29992997C>T	ENST00000308893.4	+	9	1714	c.671C>T	c.(670-672)cCg>cTg	p.P224L	TAOK2_ENST00000416441.2_Missense_Mutation_p.P51L|TAOK2_ENST00000543033.1_Missense_Mutation_p.P224L|TAOK2_ENST00000279394.3_Missense_Mutation_p.P224L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGGAAACCACCGCTCTTTAAC	0.502																																						dbGAP											0													150.0	133.0	139.0					16																	29992997		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.671C>T	16.37:g.29992997C>T	ENSP00000310094:p.Pro224Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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	p.P224L	ENST00000308893.4	37	c.671	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956542	0.92726	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.86030	-2.06;-2.06;-2.06	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93609	0.7959	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.991	D;D;D;P;P	0.97110	0.976;1.0;0.94;0.867;0.855	D	0.93495	0.6839	9	.	.	.	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	408;51;224;224;224	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	L	224	ENSP00000310094:P224L;ENSP00000440336:P224L;ENSP00000279394:P224L	.	P	+	2	0	TAOK2	29900498	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	7.818000	0.86416	2.809000	0.96659	0.555000	0.69702	CCG	TAOK2	-	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	ENSG00000149930		0.502	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	468	0.00	0	C	NM_016151		29992997	29992997	+1	no_errors	ENST00000308893	ensembl	human	known	69_37n	missense	316	37.55	190	SNP	1.000	T
TARBP1	6894	genome.wustl.edu	37	1	234556530	234556530	+	Missense_Mutation	SNP	C	C	T	rs183482799		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:234556530C>T	ENST00000040877.1	-	21	3472	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CACATAGTAGCGTTTTTTGGA	0.368																																						dbGAP											0													120.0	128.0	125.0					1																	234556530		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3473G>A	1.37:g.234556530C>T	ENSP00000040877:p.Arg1158His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.R1158H	ENST00000040877.1	37	c.3473	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078775	0.55753	.	.	ENSG00000059588	ENST00000040877	T	0.08370	3.1	5.74	4.82	0.62117	Armadillo-type fold (1);	0.111800	0.64402	D	0.000015	T	0.09158	0.0226	L	0.57536	1.79	0.58432	D	0.999998	P	0.42908	0.793	B	0.35727	0.209	T	0.04481	-1.0948	10	0.41790	T	0.15	-7.2147	11.2317	0.48916	0.0:0.8596:0.0:0.1404	.	1158	Q13395	TARB1_HUMAN	H	1158	ENSP00000040877:R1158H	ENSP00000040877:R1158H	R	-	2	0	TARBP1	232623153	1.000000	0.71417	0.824000	0.32777	0.910000	0.53928	3.988000	0.56951	2.708000	0.92522	0.650000	0.86243	CGC	TARBP1	-	superfamily_ARM-type_fold	ENSG00000059588		0.368	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	361	0.00	0	C	NM_005646		234556530	234556530	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	missense	690	16.06	132	SNP	0.842	T
TBC1D22B	55633	genome.wustl.edu	37	6	37298829	37298829	+	Missense_Mutation	SNP	A	A	G	rs147324755		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:37298829A>G	ENST00000373491.3	+	13	1545	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	467							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GGGTCTCCTCATGCTGCTACA	0.493																																						dbGAP											0													161.0	148.0	153.0					6																	37298829		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1399A>G	6.37:g.37298829A>G	ENSP00000362590:p.Met467Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M467V	ENST00000373491.3	37	c.1399	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580740	0.46006	.	.	ENSG00000065491	ENST00000373491	T	0.22134	1.97	5.93	5.93	0.95920	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.31664	0.95	0.58432	D	0.999996	B	0.17852	0.024	B	0.16722	0.016	T	0.06075	-1.0847	10	0.41790	T	0.15	.	15.3697	0.74554	1.0:0.0:0.0:0.0	.	467	Q9NU19	TB22B_HUMAN	V	467	ENSP00000362590:M467V	ENSP00000362590:M467V	M	+	1	0	TBC1D22B	37406807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.090000	0.76916	2.265000	0.75225	0.533000	0.62120	ATG	TBC1D22B	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000065491		0.493	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	250	0.40	1	A	NM_017772		37298829	37298829	+1	no_errors	ENST00000373491	ensembl	human	known	69_37n	missense	188	34.95	101	SNP	1.000	G
TBC1D4	9882	genome.wustl.edu	37	13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	rs375499221	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	69.0	69.0					13																	75923344		1931	4129	6060	-	-	-	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1370C>G	13.37:g.75923344G>C	ENSP00000366863:p.Pro457Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.P457R	ENST00000377636.3	37	c.1370	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025993	0.93518	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.19669	2.2;2.13;2.26	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.52125	0.1715	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50750	-0.8791	10	0.87932	D	0	-22.5512	20.5875	0.99426	0.0:0.0:1.0:0.0	.	457;457;457	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	457	ENSP00000366863:P457R;ENSP00000395986:P457R;ENSP00000366852:P457R	ENSP00000366852:P457R	P	-	2	0	TBC1D4	74821345	1.000000	0.71417	0.979000	0.43373	0.955000	0.61496	9.326000	0.96389	2.861000	0.98227	0.643000	0.83706	CCG	TBC1D4	-	NULL	ENSG00000136111		0.478	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	61	0.00	0	G	NM_014832		75923344	75923344	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	missense	72	30.77	32	SNP	1.000	C
TBCE	6905	genome.wustl.edu	37	1	235600767	235600767	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:235600767T>C	ENST00000366601.3	+	12	1270	c.1094T>C	c.(1093-1095)cTg>cCg	p.L365P	TBCE_ENST00000543662.1_Missense_Mutation_p.L416P|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.L365P			Q15813	TBCE_HUMAN	tubulin folding cofactor E	365	LRRCT.				'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			ATTGGCCAGCTGAAGACGCTG	0.498																																						dbGAP											0													84.0	78.0	80.0					1																	235600767		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1094T>C	1.37:g.235600767T>C	ENSP00000355560:p.Leu365Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8C2|B7Z3P1	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ribosomal_S21e,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L416P	ENST00000366601.3	37	c.1247	CCDS1605.1	1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984440	0.53934	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.09445	2.98;2.98;2.98	4.85	4.85	0.62838	.	0.152140	0.45606	D	0.000358	T	0.35422	0.0931	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.994;0.994;0.996	T	0.22977	-1.0201	10	0.87932	D	0	-9.9291	13.159	0.59535	0.0:0.0:0.0:1.0	.	416;365;365	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	P	365;365;416	ENSP00000355560:L365P;ENSP00000384571:L365P;ENSP00000439170:L416P	ENSP00000355560:L365P	L	+	2	0	TBCE	233667390	1.000000	0.71417	0.998000	0.56505	0.435000	0.31806	5.628000	0.67791	2.053000	0.61076	0.533000	0.62120	CTG	TBCE	-	NULL	ENSG00000116957		0.498	TBCE-001	KNOWN	basic|CCDS	protein_coding	TBCE	HGNC	protein_coding	OTTHUMT00000096458.3	209	0.00	0	T	NM_003193		235600767	235600767	+1	no_errors	ENST00000543662	ensembl	human	known	69_37n	missense	356	16.82	72	SNP	1.000	C
TBCK	93627	genome.wustl.edu	37	4	107092364	107092364	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:107092364G>A	ENST00000273980.5	-	24	2570	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	TBCK_ENST00000432496.2_Missense_Mutation_p.A708V|TBCK_ENST00000361687.4_Missense_Mutation_p.A645V|TBCK_ENST00000394706.3_Missense_Mutation_p.A669V|TBCK_ENST00000394708.2_Missense_Mutation_p.A708V|TBCK_ENST00000514689.1_5'UTR					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCTGTAAGTAGCACTTTTAGG	0.413																																						dbGAP											0													152.0	151.0	152.0					4																	107092364		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2123C>T	4.37:g.107092364G>A	ENSP00000273980:p.Ala708Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_cat_dom,pfscan_Rhodanese-like_dom	p.A708V	ENST00000273980.5	37	c.2123	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	G	10.06	1.247481	0.22880	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.64260	-0.04;-0.04;3.82;-0.09;-0.04	4.99	3.22	0.36961	.	0.176863	0.49305	N	0.000148	T	0.41673	0.1169	N	0.21448	0.665	0.53688	D	0.999976	B;B;B	0.22800	0.0;0.075;0.0	B;B;B	0.27608	0.002;0.081;0.007	T	0.24693	-1.0153	10	0.02654	T	1	.	10.0153	0.42011	0.1707:0.0:0.8293:0.0	.	708;669;645	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	V	708;708;645;669;708	ENSP00000273980:A708V;ENSP00000405847:A708V;ENSP00000355338:A645V;ENSP00000378196:A669V;ENSP00000378198:A708V	ENSP00000273980:A708V	A	-	2	0	TBCK	107311813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.270000	0.78493	1.218000	0.43458	0.585000	0.79938	GCT	TBCK	-	NULL	ENSG00000145348		0.413	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	319	0.00	0	G	NM_033115		107092364	107092364	-1	no_errors	ENST00000273980	ensembl	human	known	69_37n	missense	240	41.75	172	SNP	1.000	A
TBX1	6899	genome.wustl.edu	37	22	19751741	19751741	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:19751741C>T	ENST00000329705.7	+	5	705	c.576C>T	c.(574-576)cgC>cgT	p.R192R	TBX1_ENST00000332710.4_Silent_p.R192R|TBX1_ENST00000359500.3_Silent_p.R192R	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	192					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGCCAGGCCGCGTGCACTACC	0.652																																						dbGAP											0			GRCh37	CM015330	TBX1	M							63.0	50.0	54.0					22																	19751741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.576C>T	22.37:g.19751741C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C6G493|C6G494|O43436|Q96RJ2	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.R192	ENST00000329705.7	37	c.576	CCDS13766.1	22																																																																																			TBX1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000184058		0.652	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TBX1	HGNC	protein_coding	OTTHUMT00000318033.1	19	0.00	0	C	NM_080647		19751741	19751741	+1	no_errors	ENST00000329705	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	0.076	T
TBX15	6913	genome.wustl.edu	37	1	119441696	119441696	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:119441696G>A	ENST00000369429.3	-	7	988	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	TBX15_ENST00000207157.3_Missense_Mutation_p.R221C			Q96SF7	TBX15_HUMAN	T-box 15	327					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R221S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGAGTGTGCGCACAGGAGGT	0.488																																						dbGAP											1	Substitution - Missense(1)	lung(1)											148.0	130.0	136.0					1																	119441696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.979C>T	1.37:g.119441696G>A	ENSP00000358437:p.Arg327Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R327C	ENST00000369429.3	37	c.979		1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418837	0.83559	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;D	0.88975	-2.45;-2.38;-1.75	5.65	5.65	0.86999	.	0.129767	0.49305	D	0.000159	D	0.92731	0.7689	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.98	D	0.92697	0.6171	10	0.87932	D	0	.	20.073	0.97731	0.0:0.0:1.0:0.0	.	91;327	E9PCG3;Q96SF7	.;TBX15_HUMAN	C	91;221;327;22;21	ENSP00000207157:R221C;ENSP00000358437:R327C;ENSP00000398625:R22C	ENSP00000207157:R221C	R	-	1	0	TBX15	119243219	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.400000	0.73252	2.811000	0.96726	0.655000	0.94253	CGC	TBX15	-	NULL	ENSG00000092607		0.488	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	420	0.47	2	G	NM_152380		119441696	119441696	-1	no_errors	ENST00000369429	ensembl	human	known	69_37n	missense	324	36.09	183	SNP	1.000	A
TCF20	6942	genome.wustl.edu	37	22	42564716	42564716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:42564716delG	ENST00000359486.3	-	4	5962	c.5826delC	c.(5824-5826)cccfs	p.P1942fs	TCF20_ENST00000404876.1_Intron|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGTTCTGCAAGGGGGGGAGAG	0.617											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													36.0	35.0	35.0					22																	42564716		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5826delC	22.37:g.42564716delG	ENSP00000352463:p.Pro1942fs	Somatic	909	WXS	Illumina GAIIx	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	smart_Znf_PHD	p.L1943fs	ENST00000359486.3	37	c.5826	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.617	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	174	0.00	0	G	NM_181492		42564716	42564716	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	frame_shift_del	135	30.50	61	DEL	1.000	-
TDG	6996	genome.wustl.edu	37	12	104379425	104379425	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:104379425G>A	ENST00000392872.3	+	9	1243	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S	TDG_ENST00000266775.9_Missense_Mutation_p.G333S|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000544861.1_Missense_Mutation_p.G194S|TDG_ENST00000542036.1_Missense_Mutation_p.G133S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	337					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		ATATGATCCAGGTTATGAGGC	0.398								Base excision repair (BER), DNA glycosylases																														dbGAP											0													182.0	161.0	168.0					12																	104379425		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1009G>A	12.37:g.104379425G>A	ENSP00000376611:p.Gly337Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	p.G337S	ENST00000392872.3	37	c.1009	CCDS9095.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830392	0.91036	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.29655	1.77;1.77;1.91;1.56	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.52759	1.655	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.795	D;B;B	0.91635	0.999;0.382;0.266	T	0.45804	-0.9236	10	0.54805	T	0.06	-20.2132	20.3325	0.98724	0.0:0.0:1.0:0.0	.	133;337;337	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	S	337;333;194;133	ENSP00000376611:G337S;ENSP00000266775:G333S;ENSP00000445899:G194S;ENSP00000439054:G133S	ENSP00000266775:G333S	G	+	1	0	TDG	102903555	1.000000	0.71417	0.993000	0.49108	0.510000	0.34073	9.853000	0.99521	2.805000	0.96524	0.655000	0.94253	GGT	TDG	-	NULL	ENSG00000139372		0.398	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDG	HGNC	protein_coding	OTTHUMT00000399673.2	588	0.00	0	G			104379425	104379425	+1	no_errors	ENST00000392872	ensembl	human	known	69_37n	missense	423	30.31	184	SNP	1.000	A
TCP11L2	255394	genome.wustl.edu	37	12	106715444	106715444	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:106715444A>G	ENST00000299045.3	+	5	769	c.595A>G	c.(595-597)Aga>Gga	p.R199G	TCP11L2_ENST00000547153.1_Missense_Mutation_p.R199G|TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000546625.1_Missense_Mutation_p.R199G	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	199										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TAATGATATCAGAGAGTTAAA	0.483																																						dbGAP											0													178.0	160.0	166.0					12																	106715444		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.595A>G	12.37:g.106715444A>G	ENSP00000299045:p.Arg199Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA65|G3V1Y9	Missense_Mutation	SNP	pfam_Tcp11	p.R199G	ENST00000299045.3	37	c.595	CCDS9104.1	12	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255191	0.59321	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	6.07	-1.22	0.09494	.	0.183713	0.56097	D	0.000028	T	0.13114	0.0318	L	0.38175	1.15	0.32923	D	0.51615	B;B;B	0.33345	0.254;0.409;0.137	B;B;B	0.36766	0.232;0.149;0.085	T	0.08659	-1.0711	10	0.56958	D	0.05	-3.0637	16.6059	0.84828	0.4471:0.5529:0.0:0.0	.	199;199;199	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	G	199	ENSP00000448952:R199G;ENSP00000299045:R199G;ENSP00000449123:R199G;ENSP00000448629:R199G	ENSP00000299045:R199G	R	+	1	2	TCP11L2	105239574	0.995000	0.38212	0.957000	0.39632	0.989000	0.77384	0.563000	0.23547	-0.424000	0.07382	0.533000	0.62120	AGA	TCP11L2	-	pfam_Tcp11	ENSG00000166046		0.483	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	HGNC	protein_coding	OTTHUMT00000407206.1	327	0.00	0	A	NM_152772		106715444	106715444	+1	no_errors	ENST00000299045	ensembl	human	known	69_37n	missense	233	38.90	149	SNP	0.992	G
TDRD1	56165	genome.wustl.edu	37	10	115973857	115973857	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:115973857T>C	ENST00000369280.1	+	16	2656	c.2196T>C	c.(2194-2196)caT>caC	p.H732H	TDRD1_ENST00000422662.1_Silent_p.H336H|TDRD1_ENST00000369282.1_Silent_p.H732H|TDRD1_ENST00000369281.2_Silent_p.H675H|TDRD1_ENST00000251864.2_Silent_p.H732H			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	732					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTATTGCCATGTGCTTAAAG	0.348																																						dbGAP											0													293.0	269.0	277.0					10																	115973857		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2196T>C	10.37:g.115973857T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.H732	ENST00000369280.1	37	c.2196		10																																																																																			TDRD1	-	pfam_Tudor	ENSG00000095627		0.348	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	895	0.11	1	T			115973857	115973857	+1	no_errors	ENST00000251864	ensembl	human	known	69_37n	silent	618	33.15	307	SNP	0.094	C
TEAD1	7003	genome.wustl.edu	37	11	12901337	12901337	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:12901337A>T	ENST00000526600.1	+	1	348	c.125A>T	c.(124-126)aAc>aTc	p.N42I	TEAD1_ENST00000361905.4_Missense_Mutation_p.N123I|TEAD1_ENST00000527636.1_Missense_Mutation_p.N138I|TEAD1_ENST00000334310.6_Missense_Mutation_p.N127I|TEAD1_ENST00000361985.2_Missense_Mutation_p.N138I|TEAD1_ENST00000527575.1_Missense_Mutation_p.N138I			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	138					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCCATTCATAACAAGCTGGGG	0.597																																						dbGAP											0													73.0	65.0	68.0					11																	12901337		2200	4294	6494	-	-	-	SO:0001583	missense	0			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.125A>T	11.37:g.12901337A>T	ENSP00000435393:p.Asn42Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4FUP2|E7EV65	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.N123I	ENST00000526600.1	37	c.368		11	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840990	0.91197	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.85542	2.76	0.80722	D	1	P;P;P	0.52061	0.95;0.916;0.752	P;P;P	0.54431	0.702;0.752;0.616	T	0.54105	-0.8343	10	0.28530	T	0.3	-1.2103	16.2769	0.82647	1.0:0.0:0.0:0.0	.	127;42;138	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	I	123;138;138;127;138;42	ENSP00000355332:N123I;ENSP00000435233:N138I;ENSP00000435977:N138I;ENSP00000334754:N127I;ENSP00000354588:N138I;ENSP00000435393:N42I	ENSP00000334754:N127I	N	+	2	0	TEAD1	12857913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.313000	0.72844	2.315000	0.78130	0.533000	0.62120	AAC	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000187079		0.597	TEAD1-007	PUTATIVE	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000387220.1	53	0.00	0	A	NM_021961		12901337	12901337	+1	no_errors	ENST00000361905	ensembl	human	known	69_37n	missense	33	35.29	18	SNP	1.000	T
TECPR1	25851	genome.wustl.edu	37	7	97851805	97851805	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:97851805T>C	ENST00000447648.2	-	22	3256	c.2957A>G	c.(2956-2958)gAc>gGc	p.D986G	TECPR1_ENST00000379795.3_Missense_Mutation_p.D988G|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	986					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGGGCTGGTCGGTGCCAAC	0.701																																						dbGAP											0													17.0	24.0	21.0					7																	97851805		2043	4183	6226	-	-	-	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2957A>G	7.37:g.97851805T>C	ENSP00000404923:p.Asp986Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.D988G	ENST00000447648.2	37	c.2963	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	T	27.2	4.811340	0.90707	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.79940	-1.32;-1.32	5.37	5.37	0.77165	.	0.102536	0.64402	D	0.000004	D	0.87613	0.6221	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	D	0.86232	0.1638	10	0.30078	T	0.28	-49.017	14.5617	0.68144	0.0:0.0:0.0:1.0	.	986	Q7Z6L1	TCPR1_HUMAN	G	986;988	ENSP00000404923:D986G;ENSP00000369121:D988G	ENSP00000369121:D988G	D	-	2	0	TECPR1	97689741	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	8.040000	0.89188	2.042000	0.60477	0.533000	0.62120	GAC	TECPR1	-	superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.701	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	41	0.00	0	T	NM_015395		97851805	97851805	-1	no_errors	ENST00000379795	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	1.000	C
TERF2IP	54386	genome.wustl.edu	37	16	75690320	75690320	+	Frame_Shift_Del	DEL	A	A	-	rs566381436		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:75690320delA	ENST00000300086.4	+	3	1108	c.1011delA	c.(1009-1011)ctafs	p.L337fs		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	337					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						AGGCCTTCCTAAAAAATAGTG	0.448																																						dbGAP											0													166.0	170.0	168.0					16																	75690320		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.1011delA	16.37:g.75690320delA	ENSP00000300086:p.Leu337fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Frame_Shift_Del	DEL	pfam_Rap1_Myb_dom,superfamily_Homeodomain-like,superfamily_BRCT_dom	p.N339fs	ENST00000300086.4	37	c.1011	CCDS32491.1	16																																																																																			TERF2IP	-	NULL	ENSG00000166848		0.448	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TERF2IP	HGNC	protein_coding	OTTHUMT00000435519.1	155	0.00	0	A	NM_018975		75690320	75690320	+1	no_errors	ENST00000300086	ensembl	human	putative	69_37n	frame_shift_del	144	28.50	59	DEL	0.723	-
TET2	54790	genome.wustl.edu	37	4	106196445	106196445	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:106196445G>A	ENST00000540549.1	+	11	5638	c.4778G>A	c.(4777-4779)aGc>aAc	p.S1593N	TET2_ENST00000513237.1_Missense_Mutation_p.S1614N|TET2_ENST00000380013.4_Missense_Mutation_p.S1593N|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1593					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAAGCACCAGCCCTATGAAC	0.433			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													119.0	94.0	102.0					4																	106196445		692	1591	2283	-	-	-	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4778G>A	4.37:g.106196445G>A	ENSP00000442788:p.Ser1593Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.S1593N	ENST00000540549.1	37	c.4778	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.273421	0.00257	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.23950	1.88;1.88;1.88	5.25	-1.22	0.09494	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.08133	0.0203	N	0.02142	-0.665	0.29934	N	0.821663	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.41734	-0.9492	9	0.05620	T	0.96	-1.4993	12.3335	0.55054	0.4576:0.0:0.5424:0.0	.	1614;1593	E7EQS8;Q6N021	.;TET2_HUMAN	N	1593;1614;1593	ENSP00000442788:S1593N;ENSP00000425443:S1614N;ENSP00000369351:S1593N	ENSP00000369351:S1593N	S	+	2	0	TET2	106415894	0.085000	0.21516	0.017000	0.16124	0.240000	0.25518	0.456000	0.21859	-0.204000	0.10235	-0.436000	0.05848	AGC	TET2	-	NULL	ENSG00000168769		0.433	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	270	0.00	0	G	NM_017628		106196445	106196445	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	missense	174	46.13	149	SNP	0.106	A
TFG	10342	genome.wustl.edu	37	3	100432553	100432553	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:100432553T>C	ENST00000240851.4	+	2	364	c.24T>C	c.(22-24)agT>agC	p.S8S	TFG_ENST00000476228.1_Silent_p.S8S|TFG_ENST00000418917.2_Silent_p.S8S|TFG_ENST00000490574.1_Silent_p.S8S	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	8					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGATCTAAGTGGGAAGCTAA	0.358			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																	dbGAP		Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0													111.0	105.0	107.0					3																	100432553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.24T>C	3.37:g.100432553T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.S8	ENST00000240851.4	37	c.24	CCDS2939.1	3																																																																																			TFG	-	NULL	ENSG00000114354		0.358	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	160	0.62	1	T	NM_006070		100432553	100432553	+1	no_errors	ENST00000240851	ensembl	human	known	69_37n	silent	127	40.38	86	SNP	1.000	C
THEG	51298	genome.wustl.edu	37	19	375704	375704	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:375704T>C	ENST00000342640.4	-	1	309	c.267A>G	c.(265-267)agA>agG	p.R89R	THEG_ENST00000346878.2_Silent_p.R89R	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	89					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGGACTCTCTCCAACT	0.632																																						dbGAP											0													114.0	121.0	119.0					19																	375704		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.267A>G	19.37:g.375704T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMJ8	Silent	SNP	smart_THEG	p.R89	ENST00000342640.4	37	c.267	CCDS12025.1	19																																																																																			THEG	-	NULL	ENSG00000105549		0.632	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	132	0.00	0	T			375704	375704	-1	no_errors	ENST00000342640	ensembl	human	known	69_37n	silent	91	32.09	43	SNP	0.013	C
THEG	51298	genome.wustl.edu	37	19	375710	375710	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:375710C>T	ENST00000342640.4	-	1	303	c.261G>A	c.(259-261)ttG>ttA	p.L87L	THEG_ENST00000346878.2_Silent_p.L87L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	87					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACTCTCTCCAACTCAGAAA	0.632																																						dbGAP											0													113.0	120.0	118.0					19																	375710		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.261G>A	19.37:g.375710C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMJ8	Silent	SNP	smart_THEG	p.L87	ENST00000342640.4	37	c.261	CCDS12025.1	19																																																																																			THEG	-	NULL	ENSG00000105549		0.632	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	131	0.00	0	C			375710	375710	-1	no_errors	ENST00000342640	ensembl	human	known	69_37n	silent	96	32.39	46	SNP	0.005	T
THSD7A	221981	genome.wustl.edu	37	7	11418873	11418873	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:11418873T>C	ENST00000423059.4	-	26	4876	c.4625A>G	c.(4624-4626)gAa>gGa	p.E1542G	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1542					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGACATGACTTCAGTGTACCC	0.453										HNSCC(18;0.044)																												dbGAP											0													140.0	134.0	136.0					7																	11418873		1951	4143	6094	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4625A>G	7.37:g.11418873T>C	ENSP00000406482:p.Glu1542Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E1542G	ENST00000423059.4	37	c.4625	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	T	29.1	4.980849	0.92982	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.62232	0.04	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78407	0.4278	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.79524	-0.1768	10	0.62326	D	0.03	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1542;1542	Q9UPZ6;C9JL67	THS7A_HUMAN;.	G	1542	ENSP00000406482:E1542G	ENSP00000262042:E1542G	E	-	2	0	THSD7A	11385398	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	GAA	THSD7A	-	NULL	ENSG00000005108		0.453	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	285	0.00	0	T	XM_928187.2		11418873	11418873	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	176	37.23	105	SNP	1.000	C
THSD7A	221981	genome.wustl.edu	37	7	11501712	11501712	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:11501712G>A	ENST00000423059.4	-	10	2678	c.2427C>T	c.(2425-2427)aaC>aaT	p.N809N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	809	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCGGCCCCCGTTGGCTGGCA	0.517										HNSCC(18;0.044)																												dbGAP											0													132.0	131.0	131.0					7																	11501712		1964	4146	6110	-	-	-	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2427C>T	7.37:g.11501712G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N809	ENST00000423059.4	37	c.2427	CCDS47543.1	7																																																																																			THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	240	0.00	0	G	XM_928187.2		11501712	11501712	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	silent	154	35.95	87	SNP	0.701	A
TKTL1	8277	genome.wustl.edu	37	X	153553734	153553734	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:153553734C>A	ENST00000369915.3	+	10	1556	c.1367C>A	c.(1366-1368)aCc>aAc	p.T456N	TKTL1_ENST00000369912.2_Missense_Mutation_p.T400N|TKTL1_ENST00000217905.7_Missense_Mutation_p.T196N	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	456					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTATTTACACCCCACAAGAA	0.448																																						dbGAP											0													162.0	128.0	139.0					X																	153553734		2203	4300	6503	-	-	-	SO:0001583	missense	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1367C>A	X.37:g.153553734C>A	ENSP00000358931:p.Thr456Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.T456N	ENST00000369915.3	37	c.1367	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.568521	0.00895	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	T;T;T	0.55760	1.5;0.5;1.24	4.82	0.933	0.19471	Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);	0.623143	0.16896	N	0.195138	T	0.38852	0.1056	L	0.39326	1.205	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.10450	0.002;0.005;0.005	T	0.23297	-1.0192	10	0.22706	T	0.39	-4.756	9.1449	0.36925	0.4132:0.4558:0.131:0.0	.	196;450;456	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	N	456;400;196;400	ENSP00000358931:T456N;ENSP00000217905:T196N;ENSP00000358928:T400N	ENSP00000217905:T196N	T	+	2	0	TKTL1	153206928	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	-0.353000	0.07691	-0.121000	0.11787	0.292000	0.19580	ACC	TKTL1	-	superfamily_Transketo_C/Pyr-ferredox_oxred	ENSG00000007350		0.448	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	382	0.00	0	C	NM_012253		153553734	153553734	+1	no_errors	ENST00000369915	ensembl	human	known	69_37n	missense	245	40.29	166	SNP	0.000	A
TLE4	7091	genome.wustl.edu	37	9	82191129	82191129	+	Intron	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:82191129A>G	ENST00000376552.2	+	4	1270				TLE4_ENST00000455913.1_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Intron|TLE4_ENST00000376520.4_Intron|TLE4_ENST00000376534.4_Intron	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAATGACAGTAATACTGGGAC	0.333																																						dbGAP											0													70.0	67.0	68.0					9																	82191129		1811	4066	5877	-	-	-	SO:0001627	intron_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.252+37A>G	9.37:g.82191129A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N	p.N97D	ENST00000376552.2	37	c.289	CCDS43837.1	9																																																																																			TLE4	-	NULL	ENSG00000106829		0.333	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	130	0.00	0	A	XM_212237		82191129	82191129	+1	no_errors	ENST00000461758	ensembl	human	known	69_37n	missense	113	33.14	56	SNP	0.001	G
TLN2	83660	genome.wustl.edu	37	15	63058521	63058521	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:63058521C>T	ENST00000561311.1	+	40	5326	c.5096C>T	c.(5095-5097)gCc>gTc	p.A1699V	TLN2_ENST00000306829.6_Splice_Site_p.A1699V|TLN2_ENST00000472902.1_Splice_Site_p.A92V			Q9Y4G6	TLN2_HUMAN	talin 2	1699					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTTATCAGGCCCTGCAGGAG	0.542																																						dbGAP											0													60.0	46.0	51.0					15																	63058521		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5095-1C>T	15.37:g.63058521C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.A1699V	ENST00000561311.1	37	c.5096	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282170	0.80692	.	.	ENSG00000171914	ENST00000306829	T	0.14022	2.54	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.59436	1.845	0.80722	D	1	P;B	0.35033	0.481;0.444	P;B	0.45071	0.468;0.354	T	0.00706	-1.1601	10	0.41790	T	0.15	-17.5666	19.568	0.95403	0.0:1.0:0.0:0.0	.	743;1699	G1UI21;Q9Y4G6	.;TLN2_HUMAN	V	1699	ENSP00000303476:A1699V	ENSP00000303476:A1699V	A	+	2	0	TLN2	60845813	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.959000	0.70339	2.626000	0.88956	0.655000	0.94253	GCC	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	62	0.00	0	C		Missense_Mutation	63058521	63058521	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	1.000	T
TM4SF1	4071	genome.wustl.edu	37	3	149089471	149089471	+	Intron	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:149089471T>C	ENST00000305366.3	-	4	912				TM4SF1_ENST00000472441.1_Silent_p.V110V	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1							integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGCAGGTTCTTACCTGTTGGT	0.413																																						dbGAP											0													112.0	108.0	109.0					3																	149089471		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.594+2A>G	3.37:g.149089471T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IB51	Silent	SNP	pfam_L6_membrane	p.V110	ENST00000305366.3	37	c.330	CCDS3143.1	3																																																																																			TM4SF1	-	NULL	ENSG00000169908		0.413	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF1	HGNC	protein_coding	OTTHUMT00000356368.1	139	0.00	0	T			149089471	149089471	-1	no_errors	ENST00000472441	ensembl	human	putative	69_37n	silent	111	31.90	52	SNP	1.000	C
TMC8	147138	genome.wustl.edu	37	17	76128384	76128384	+	Intron	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76128384G>T	ENST00000318430.5	+	4	672				TMC6_ENST00000322914.3_Intron|TMC8_ENST00000589691.1_Intron	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8						ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TGGACTCTCAGCGCGGCCCCA	0.721																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.299-56G>T	17.37:g.76128384G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	RNA	SNP	-	NULL	ENST00000318430.5	37	NULL	CCDS32749.1	17																																																																																			TMC6	-	-	ENSG00000141524		0.721	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000436900.3	22	0.00	0	G			76128384	76128384	-1	no_errors	ENST00000587480	ensembl	human	putative	69_37n	rna	47	18.97	11	SNP	0.000	T
TMC8	147138	genome.wustl.edu	37	17	76128547	76128547	+	Missense_Mutation	SNP	G	G	T	rs140601157		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76128547G>T	ENST00000318430.5	+	4	780	c.406G>T	c.(406-408)Gtc>Ttc	p.V136F	TMC6_ENST00000322914.3_5'Flank|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	136					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCTGCCCCTGGTCTGGCTCCG	0.662																																						dbGAP											0													43.0	34.0	37.0					17																	76128547		2201	4300	6501	-	-	-	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.406G>T	17.37:g.76128547G>T	ENSP00000325561:p.Val136Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.V136F	ENST00000318430.5	37	c.406	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178196	0.38511	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.50548	0.74	4.13	-0.466	0.12153	.	1.783220	0.04147	N	0.320692	T	0.37461	0.1004	L	0.48642	1.525	0.80722	D	1	B	0.29085	0.232	B	0.24701	0.055	T	0.12863	-1.0531	10	0.25106	T	0.35	-5.3559	4.7548	0.13078	0.203:0.34:0.457:0.0	.	136	Q8IU68	TMC8_HUMAN	F	136	ENSP00000325561:V136F	ENSP00000301627:V136F	V	+	1	0	TMC8	73640142	0.984000	0.35163	0.946000	0.38457	0.703000	0.40648	0.788000	0.26872	-0.184000	0.10567	-0.225000	0.12378	GTC	TMC8	-	NULL	ENSG00000167895		0.662	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	53	0.00	0	G			76128547	76128547	+1	no_errors	ENST00000318430	ensembl	human	known	69_37n	missense	138	19.54	34	SNP	0.826	T
TMCC3	57458	genome.wustl.edu	37	12	94965228	94965228	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:94965228T>C	ENST00000261226.4	-	4	1548	c.1417A>G	c.(1417-1419)Atg>Gtg	p.M473V	TMCC3_ENST00000551457.1_Missense_Mutation_p.M442V	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	473						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGTATTATCATCCTTTCTATG	0.388																																						dbGAP											0													97.0	94.0	95.0					12																	94965228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1417A>G	12.37:g.94965228T>C	ENSP00000261226:p.Met473Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWB2	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.M473V	ENST00000261226.4	37	c.1417	CCDS31877.1	12	.	.	.	.	.	.	.	.	.	.	T	0.765	-0.767877	0.02974	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.38887	1.67;1.11	5.33	4.19	0.49359	.	0.323500	0.37012	N	0.002288	T	0.22244	0.0536	N	0.17474	0.49	0.23893	N	0.996548	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	10	0.02654	T	1	-9.5455	10.8969	0.47027	0.0:0.0738:0.0:0.9262	.	473	Q9ULS5	TMCC3_HUMAN	V	473;442	ENSP00000261226:M473V;ENSP00000449888:M442V	ENSP00000261226:M473V	M	-	1	0	TMCC3	93489359	0.996000	0.38824	1.000000	0.80357	0.942000	0.58702	1.118000	0.31246	0.871000	0.35750	0.459000	0.35465	ATG	TMCC3	-	NULL	ENSG00000057704		0.388	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC3	HGNC	protein_coding	OTTHUMT00000408113.1	159	0.00	0	T	NM_020698		94965228	94965228	-1	no_errors	ENST00000261226	ensembl	human	known	69_37n	missense	109	39.78	72	SNP	1.000	C
TANGO6	79613	genome.wustl.edu	37	16	68961618	68961618	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:68961618G>A	ENST00000261778.1	+	13	2287	c.2275G>A	c.(2275-2277)Gtc>Atc	p.V759I	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	759						integral component of membrane (GO:0016021)											CACTGAGGCCGTCAGCATGGC	0.498																																						dbGAP											0													139.0	139.0	139.0					16																	68961618		2027	4205	6232	-	-	-	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2275G>A	16.37:g.68961618G>A	ENSP00000261778:p.Val759Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.V759I	ENST00000261778.1	37	c.2275	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	8.953	0.968750	0.18659	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	3.41	0.39046	Armadillo-type fold (1);	0.326286	0.28718	N	0.014376	T	0.56396	0.1982	M	0.66939	2.045	0.32132	N	0.586625	B	0.11235	0.004	B	0.10450	0.005	T	0.59306	-0.7479	9	0.30078	T	0.28	-11.9229	16.2449	0.82437	0.0729:0.0:0.9271:0.0	.	759	Q9C0B7	TMCO7_HUMAN	I	759	.	ENSP00000261778:V759I	V	+	1	0	TMCO7	67519119	0.853000	0.29707	0.987000	0.45799	0.121000	0.20230	1.364000	0.34171	0.641000	0.30601	-0.940000	0.02684	GTC	TMCO7	-	superfamily_ARM-type_fold	ENSG00000103047		0.498	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	215	0.00	0	G	XM_928235.2		68961618	68961618	+1	no_errors	ENST00000261778	ensembl	human	known	69_37n	missense	127	37.44	76	SNP	0.924	A
TANGO6	79613	genome.wustl.edu	37	16	68961634	68961634	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:68961634A>G	ENST00000261778.1	+	13	2303	c.2291A>G	c.(2290-2292)cAa>cGa	p.Q764R	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	764						integral component of membrane (GO:0016021)											ATGGCTGCCCAAAGTACACTG	0.493																																						dbGAP											0													127.0	127.0	127.0					16																	68961634		2000	4193	6193	-	-	-	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2291A>G	16.37:g.68961634A>G	ENSP00000261778:p.Gln764Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.Q764R	ENST00000261778.1	37	c.2291	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	A	8.041	0.763805	0.15914	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	4.28	0.50868	Armadillo-type fold (1);	0.708561	0.13533	N	0.380818	T	0.46698	0.1406	M	0.66939	2.045	0.34504	D	0.706375	P	0.35077	0.483	B	0.30943	0.122	T	0.51419	-0.8708	9	0.15952	T	0.53	-3.649	10.443	0.44477	0.9231:0.0:0.0769:0.0	.	764	Q9C0B7	TMCO7_HUMAN	R	764	.	ENSP00000261778:Q764R	Q	+	2	0	TMCO7	67519135	0.902000	0.30710	0.769000	0.31535	0.006000	0.05464	2.364000	0.44187	0.896000	0.36366	0.533000	0.62120	CAA	TMCO7	-	superfamily_ARM-type_fold	ENSG00000103047		0.493	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	202	0.98	2	A	XM_928235.2		68961634	68961634	+1	no_errors	ENST00000261778	ensembl	human	known	69_37n	missense	120	31.67	57	SNP	0.965	G
TMEM196	256130	genome.wustl.edu	37	7	19812245	19812245	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:19812245G>A	ENST00000405764.3	-	1	771	c.75C>T	c.(73-75)agC>agT	p.S25S	TMEM196_ENST00000493519.1_Intron|TMEM196_ENST00000433641.1_Intron|TMEM196_ENST00000422233.1_Intron|TMEM196_ENST00000405844.1_Silent_p.S25S	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	25						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						CCACGGCCACGCTGGACACCC	0.632																																						dbGAP											0													45.0	52.0	50.0					7																	19812245		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.75C>T	7.37:g.19812245G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N6I6	Silent	SNP	NULL	p.S25	ENST00000405764.3	37	c.75	CCDS34607.2	7																																																																																			TMEM196	-	NULL	ENSG00000173452		0.632	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1	44	0.00	0	G	NM_152774		19812245	19812245	-1	no_errors	ENST00000405764	ensembl	human	known	69_37n	silent	27	50.00	28	SNP	1.000	A
TMED4	222068	genome.wustl.edu	37	7	44619119	44619119	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:44619119G>A	ENST00000457408.2	-	5	695	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	TMED4_ENST00000289577.5_Missense_Mutation_p.R166C|TMED4_ENST00000444131.2_5'Flank	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	215					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TTGAGGTGACGCATCTGCCAG	0.517																																						dbGAP											0													121.0	95.0	104.0					7																	44619119		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035467	CCDS5493.1	7p13	2004-12-21			ENSG00000158604	ENSG00000158604			22301	protein-coding gene	gene with protein product		612038				12761501	Standard	NM_182547		Approved	HNLF	uc003tli.3	Q7Z7H5	OTTHUMG00000129210	ENST00000457408.2:c.643C>T	7.37:g.44619119G>A	ENSP00000404042:p.Arg215Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2K8|B4DFJ4|Q56VW3|Q7Z432|Q8N2P6	Missense_Mutation	SNP	pfam_GOLD,pfscan_GOLD	p.R215C	ENST00000457408.2	37	c.643	CCDS5493.1	7	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386573	0.82902	.	.	ENSG00000158604	ENST00000457408;ENST00000289577;ENST00000419520	T;T	0.17854	2.25;2.25	6.08	5.17	0.71159	GOLD (1);	0.102510	0.64402	N	0.000007	T	0.48003	0.1476	M	0.93939	3.475	0.80722	D	1	D	0.71674	0.998	P	0.62382	0.901	T	0.58228	-0.7673	10	0.87932	D	0	-6.6534	12.4941	0.55918	0.0:0.0:0.7114:0.2886	.	215	Q7Z7H5	TMED4_HUMAN	C	215;166;199	ENSP00000404042:R215C;ENSP00000289577:R166C	ENSP00000289577:R166C	R	-	1	0	TMED4	44585644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.116000	0.41930	2.894000	0.99253	0.655000	0.94253	CGT	TMED4	-	pfam_GOLD	ENSG00000158604		0.517	TMED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED4	HGNC	protein_coding	OTTHUMT00000251290.1	118	0.00	0	G	NM_182547		44619119	44619119	-1	no_errors	ENST00000457408	ensembl	human	known	69_37n	missense	75	38.02	46	SNP	1.000	A
TMEM206	55248	genome.wustl.edu	37	1	212548597	212548597	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:212548597delT	ENST00000261455.4	-	7	966	c.829delA	c.(829-831)agtfs	p.S277fs	TMEM206_ENST00000535273.1_Frame_Shift_Del_p.S338fs	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	277						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		AATTGAGCACTTTTTTTGGCA	0.398																																						dbGAP											0													83.0	81.0	82.0					1																	212548597		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.829delA	1.37:g.212548597delT	ENSP00000261455:p.Ser277fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4D6|Q6IA87|Q9NV85	Frame_Shift_Del	DEL	NULL	p.S338fs	ENST00000261455.4	37	c.1012	CCDS1504.1	1																																																																																			TMEM206	-	NULL	ENSG00000065600		0.398	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM206	HGNC	protein_coding	OTTHUMT00000089306.1	211	0.00	0	T	NM_018252		212548597	212548597	-1	no_errors	ENST00000535273	ensembl	human	known	69_37n	frame_shift_del	346	15.70	65	DEL	0.016	-
TMEM57	55219	genome.wustl.edu	37	1	25775353	25775353	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:25775353C>A	ENST00000374343.4	+	3	456	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	TMEM57_ENST00000399766.3_Missense_Mutation_p.L93M|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	93					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AATATGCCTGCTGTTCATCCC	0.358																																						dbGAP											0													150.0	140.0	144.0					1																	25775353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.277C>A	1.37:g.25775353C>A	ENSP00000363463:p.Leu93Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.L93M	ENST00000374343.4	37	c.277	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967082	0.92855	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	D	0.81739	-1.53	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.997;0.981	D;P	0.78314	0.991;0.897	D	0.89488	0.3755	10	0.62326	D	0.03	-7.8447	18.8365	0.92165	0.0:1.0:0.0:0.0	.	93;93	Q8N5G2-3;Q8N5G2	.;MACOI_HUMAN	M	93	ENSP00000382668:L93M	ENSP00000363463:L93M	L	+	1	2	TMEM57	25647940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.748000	0.94277	0.650000	0.86243	CTG	TMEM57	-	pfam_Macoilin	ENSG00000204178		0.358	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	500	0.00	0	C	NM_018202		25775353	25775353	+1	no_errors	ENST00000374343	ensembl	human	known	69_37n	missense	347	39.86	230	SNP	1.000	A
TMEM59	9528	genome.wustl.edu	37	1	54507477	54507477	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:54507477G>T	ENST00000234831.5	-	5	794	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	TMEM59_ENST00000371341.1_Splice_Site_p.S51Y|TMEM59_ENST00000371344.1_Splice_Site_p.S51Y|TMEM59_ENST00000371348.1_Splice_Site_p.S51Y	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	182					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						TTCTGGCTTAGACTAAAATAA	0.308																																						dbGAP											0													108.0	114.0	112.0					1																	54507477		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.544-1C>A	1.37:g.54507477G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m	p.S182Y	ENST00000234831.5	37	c.545	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284001	0.80803	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341;ENST00000371338;ENST00000420738;ENST00000440019;ENST00000452421	T;T	0.55234	0.53;0.58	5.53	5.53	0.82687	.	0.102727	0.64402	D	0.000002	T	0.74405	0.3712	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.997;0.989	D;D;D;P	0.81914	0.958;0.958;0.995;0.832	T	0.76408	-0.2970	10	0.87932	D	0	-26.7811	18.6325	0.91364	0.0:0.0:1.0:0.0	.	193;193;182;182	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	Y	51;51;182;51;193;51;51;193	ENSP00000234831:S182Y;ENSP00000397772:S193Y	ENSP00000234831:S182Y	S	-	2	0	TMEM59	54280065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.677000	0.74503	2.882000	0.98803	0.655000	0.94253	TCT	TMEM59	-	pfam_Uncharacterised_TMEM59	ENSG00000116209		0.308	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	HGNC	protein_coding	OTTHUMT00000023254.2	303	0.00	0	G	NM_004872	Missense_Mutation	54507477	54507477	-1	no_errors	ENST00000234831	ensembl	human	known	69_37n	missense	213	35.84	119	SNP	1.000	T
TMX1	81542	genome.wustl.edu	37	14	51716427	51716427	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:51716427C>T	ENST00000457354.2	+	7	733	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	203					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						ATATTTGTGGCAGATTGCCTT	0.308																																						dbGAP											0													104.0	92.0	96.0					14																	51716427		1814	4078	5892	-	-	-	SO:0001583	missense	0			AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.608C>T	14.37:g.51716427C>T	ENSP00000393316:p.Ala203Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A203V	ENST00000457354.2	37	c.608	CCDS41953.1	14	.	.	.	.	.	.	.	.	.	.	C	8.939	0.965383	0.18583	.	.	ENSG00000139921	ENST00000457354	T	0.66995	-0.24	5.63	5.63	0.86233	.	0.048043	0.85682	D	0.000000	T	0.69931	0.3166	L	0.39397	1.21	0.53005	D	0.999963	D;B	0.63880	0.993;0.112	P;B	0.60886	0.88;0.05	T	0.62153	-0.6914	10	0.02654	T	1	-19.2882	18.617	0.91306	0.0:1.0:0.0:0.0	.	119;203	B4DZX7;Q9H3N1	.;TMX1_HUMAN	V	203	ENSP00000393316:A203V	ENSP00000393316:A203V	A	+	2	0	TMX1	50786177	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.673000	0.68109	2.808000	0.96608	0.655000	0.94253	GCA	TMX1	-	NULL	ENSG00000139921		0.308	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX1	HGNC	protein_coding	OTTHUMT00000411206.1	421	0.00	0	C	NM_030755		51716427	51716427	+1	no_errors	ENST00000457354	ensembl	human	known	69_37n	missense	319	34.36	167	SNP	1.000	T
TNIK	23043	genome.wustl.edu	37	3	170846513	170846513	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:170846513A>G	ENST00000436636.2	-	16	2107	c.1763T>C	c.(1762-1764)gTc>gCc	p.V588A	TNIK_ENST00000369326.5_Missense_Mutation_p.V559A|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000470834.1_Missense_Mutation_p.V559A|TNIK_ENST00000284483.8_Missense_Mutation_p.V588A|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000357327.5_Missense_Mutation_p.V559A|TNIK_ENST00000538048.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	588	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGGGGATCGACTGGTCTGAG	0.498																																						dbGAP											0													50.0	53.0	52.0					3																	170846513		1972	4163	6135	-	-	-	SO:0001583	missense	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1763T>C	3.37:g.170846513A>G	ENSP00000399511:p.Val588Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.V588A	ENST00000436636.2	37	c.1763	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174787	0.38413	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000284483;ENST00000357327;ENST00000470834	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.07	5.07	0.68467	.	0.131326	0.49916	D	0.000121	T	0.37625	0.1010	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.32128	0.094;0.357;0.094;0.125	B;B;B;B	0.32928	0.108;0.155;0.108;0.074	T	0.15925	-1.0420	10	0.26408	T	0.33	.	14.995	0.71425	1.0:0.0:0.0:0.0	.	559;588;559;588	Q9UKE5-6;Q9UKE5-4;Q9UKE5-2;Q9UKE5	.;.;.;TNIK_HUMAN	A	588;559;588;559;559	ENSP00000399511:V588A;ENSP00000358332:V559A;ENSP00000284483:V588A;ENSP00000349880:V559A;ENSP00000419990:V559A	ENSP00000284483:V588A	V	-	2	0	TNIK	172329207	1.000000	0.71417	0.169000	0.22859	0.802000	0.45316	5.720000	0.68470	2.131000	0.65755	0.459000	0.35465	GTC	TNIK	-	NULL	ENSG00000154310		0.498	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	153	0.65	1	A	XM_039796		170846513	170846513	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	missense	111	36.93	65	SNP	0.553	G
TNK1	8711	genome.wustl.edu	37	17	7290395	7290396	+	Frame_Shift_Ins	INS	-	-	G	rs377099835|rs567693996	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:7290395_7290396insG	ENST00000576812.1	+	9	1703_1704	c.1334_1335insG	c.(1333-1338)gcggggfs	p.AG445fs	TNK1_ENST00000311668.2_Frame_Shift_Ins_p.AG440fs|TNK1_ENST00000570896.1_Frame_Shift_Ins_p.AG440fs	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1											central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CTGGCAGATGCGGGGGGCTTGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1340dupG	17.37:g.7290401_7290401dupG	ENSP00000459799:p.Ala445fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L449fs	ENST00000576812.1	37	c.1334_1335	CCDS58510.1	17																																																																																			TNK1	-	NULL	ENSG00000174292		0.629	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TNK1	HGNC	protein_coding	OTTHUMT00000440832.2	115	0.00	0	-	NM_003985		7290395	7290396	+1	no_errors	ENST00000576812	ensembl	human	known	69_37n	frame_shift_ins	101	28.37	40	INS	0.000:0.004	G
TNKS2	80351	genome.wustl.edu	37	10	93605590	93605590	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:93605590G>A	ENST00000371627.4	+	18	2630	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	751					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACCTTTGCACGAAGCAGCCCA	0.438																																						dbGAP											0													104.0	94.0	98.0					10																	93605590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2251G>A	10.37:g.93605590G>A	ENSP00000360689:p.Glu751Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.E751K	ENST00000371627.4	37	c.2251	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.603549	0.96626	.	.	ENSG00000107854	ENST00000371627	T	0.64085	-0.08	6.02	6.02	0.97574	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000007	T	0.69314	0.3097	N	0.20574	0.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67067	-0.5764	10	0.34782	T	0.22	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	751	Q9H2K2	TNKS2_HUMAN	K	751	ENSP00000360689:E751K	ENSP00000360689:E751K	E	+	1	0	TNKS2	93595570	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	9.623000	0.98386	2.850000	0.98022	0.650000	0.86243	GAA	TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.438	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	175	0.00	0	G	NM_025235		93605590	93605590	+1	no_errors	ENST00000371627	ensembl	human	known	69_37n	missense	151	31.36	69	SNP	1.000	A
TNPO3	23534	genome.wustl.edu	37	7	128645119	128645119	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:128645119C>T	ENST00000265388.5	-	5	790	c.647G>A	c.(646-648)aGt>aAt	p.S216N	TNPO3_ENST00000471234.1_Missense_Mutation_p.S216N|TNPO3_ENST00000393245.1_Missense_Mutation_p.S216N|TNPO3_ENST00000471166.1_Missense_Mutation_p.S216N|TNPO3_ENST00000482320.1_Missense_Mutation_p.S150N			Q9Y5L0	TNPO3_HUMAN	transportin 3	216					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CATGAAGTTACTGTCCAAAAC	0.353																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													104.0	98.0	100.0					7																	128645119		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.647G>A	7.37:g.128645119C>T	ENSP00000265388:p.Ser216Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.S216N	ENST00000265388.5	37	c.647	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490117	0.44249	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.82	5.82	0.92795	Exportin-1/Importin-beta-like (1);Armadillo-type fold (1);	0.038805	0.85682	D	0.000000	T	0.36110	0.0955	L	0.35854	1.095	0.44579	D	0.997549	B;B;B	0.24882	0.113;0.002;0.002	B;B;B	0.27715	0.082;0.006;0.021	T	0.10520	-1.0626	10	0.15952	T	0.53	.	17.6002	0.88024	0.0:1.0:0.0:0.0	.	216;216;216	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	N	216;216;150;216;216	ENSP00000376936:S216N;ENSP00000265388:S216N;ENSP00000420089:S150N;ENSP00000418646:S216N;ENSP00000418267:S216N	ENSP00000265388:S216N	S	-	2	0	TNPO3	128432355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.745000	0.94114	0.650000	0.86243	AGT	TNPO3	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000064419		0.353	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	238	0.00	0	C	NM_012470		128645119	128645119	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	missense	170	32.54	82	SNP	1.000	T
TNRC6A	27327	genome.wustl.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2406)caggggfs	p.QG801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.QG801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2409dupG	16.37:g.24802372_24802372dupG	ENSP00000379144:p.Gln801fs	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Ins	INS	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.W804fs	ENST00000395799.3	37	c.2402_2403	CCDS10624.2	16																																																																																			TNRC6A	-	NULL	ENSG00000090905		0.510	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	87	0.00	0	-	NM_020847		24802365	24802366	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	frame_shift_ins	54	18.18	12	INS	1.000:0.988	G
TNRC6C	57690	genome.wustl.edu	37	17	76047478	76047478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76047478delC	ENST00000588061.1	+	5	3062	c.2335delC	c.(2335-2337)cccfs	p.P780fs	TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.P780fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.P780fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.P780fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.P780fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.P780fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	780	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGAGACGCCGCCCCCGCACCA	0.502																																						dbGAP											0													15.0	14.0	15.0					17																	76047478		1624	3196	4820	-	-	-	SO:0001589	frameshift_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2335delC	17.37:g.76047478delC	ENSP00000468647:p.Pro780fs	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P780fs	ENST00000588061.1	37	c.2335	CCDS45798.1	17																																																																																			TNRC6C	-	NULL	ENSG00000078687		0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	57	0.00	0	C	NM_018996		76047478	76047478	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	frame_shift_del	106	16.92	22	DEL	0.253	-
TOMM40L	84134	genome.wustl.edu	37	1	161198542	161198542	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:161198542T>C	ENST00000367988.3	+	9	991	c.722T>C	c.(721-723)cTa>cCa	p.L241P	TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.L241P|NR1I3_ENST00000479324.1_5'Flank|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000545897.1_Missense_Mutation_p.L207P	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	241					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AACACAAGGCTACAAGACACA	0.488																																						dbGAP											0													126.0	106.0	113.0					1																	161198542		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.722T>C	1.37:g.161198542T>C	ENSP00000356967:p.Leu241Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4U0|D3DVG9	Missense_Mutation	SNP	pfam_Porin_Euk	p.L241P	ENST00000367988.3	37	c.722	CCDS1227.1	1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565114	0.65651	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.39997	1.05;1.05;1.05	5.63	5.63	0.86233	.	0.131461	0.52532	D	0.000070	T	0.30572	0.0769	L	0.34521	1.04	0.32113	N	0.58904	P;P;P	0.50272	0.933;0.652;0.933	P;B;P	0.51055	0.565;0.425;0.657	T	0.10359	-1.0633	9	0.35671	T	0.21	-19.9671	14.0699	0.64854	0.0:0.0:0.0:1.0	.	207;123;241	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	P	241;207;143;241	ENSP00000356967:L241P;ENSP00000443233:L207P;ENSP00000356966:L241P	ENSP00000356966:L241P	L	+	2	0	TOMM40L	159465166	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.141000	0.50593	2.261000	0.74972	0.459000	0.35465	CTA	TOMM40L	-	pfam_Porin_Euk	ENSG00000158882		0.488	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	213	0.00	0	T	NM_032174		161198542	161198542	+1	no_errors	ENST00000367987	ensembl	human	known	69_37n	missense	440	16.03	84	SNP	1.000	C
TOMM40L	84134	genome.wustl.edu	37	1	161199736	161199736	+	3'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:161199736G>A	ENST00000367988.3	+	0	2047				NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000502985.1_Intron|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000515621.1_Intron|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000512372.1_Intron|MIR5187_ENST00000583479.1_RNA|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000412844.2_Intron	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGTAGTGGGGTTGCCAGGAA	0.512																																						dbGAP											0													51.0	52.0	51.0					1																	161199736		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.*851G>A	1.37:g.161199736G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-	ENSG00000158882		0.512	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	164	0.00	0	G	NM_032174		161199736	161199736	+1	no_errors	ENST00000474486	ensembl	human	known	69_37n	rna	278	19.65	68	SNP	0.009	A
TONSL	4796	genome.wustl.edu	37	8	145657806	145657806	+	Silent	SNP	G	G	A	rs374357745		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:145657806G>A	ENST00000409379.3	-	23	3626	c.3597C>T	c.(3595-3597)aaC>aaT	p.N1199N	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1199					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCCCAGGGCGTTGTAGGACA	0.667																																						dbGAP											0													61.0	69.0	67.0					8																	145657806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3597C>T	8.37:g.145657806G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.N1199	ENST00000409379.3	37	c.3597	CCDS34968.2	8																																																																																			TONSL	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000160949		0.667	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	53	0.00	0	G	NM_013432		145657806	145657806	-1	no_errors	ENST00000409379	ensembl	human	known	69_37n	silent	43	27.12	16	SNP	0.004	A
TOPBP1	11073	genome.wustl.edu	37	3	133374202	133374202	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:133374202T>C	ENST00000260810.5	-	6	805	c.674A>G	c.(673-675)cAt>cGt	p.H225R	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	225	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTGACCTCCATGCTTAACTGT	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	dbGAP											0													168.0	154.0	159.0					3																	133374202		1894	4119	6013	-	-	-	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.674A>G	3.37:g.133374202T>C	ENSP00000260810:p.His225Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.H225R	ENST00000260810.5	37	c.674	CCDS46919.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.54|18.54	3.646814|3.646814	0.67358|0.67358	.|.	.|.	ENSG00000163781|ENSG00000163781	ENST00000260810|ENST00000508524	D|.	0.82619|.	-1.63|.	4.55|4.55	3.4|3.4	0.38934|0.38934	BRCT (4);|.	0.052758|.	0.85682|.	N|.	0.000000|.	T|T	0.69886|0.69886	0.3161|0.3161	M|M	0.75150|0.75150	2.29|2.29	0.54753|0.54753	D|D	0.999983|0.999983	D|.	0.63046|.	0.992|.	P|.	0.60286|.	0.872|.	T|T	0.67818|0.67818	-0.5572|-0.5572	10|5	0.19590|.	T|.	0.45|.	.|.	9.7566|9.7566	0.40506|0.40506	0.0:0.0824:0.0:0.9176|0.0:0.0824:0.0:0.9176	.|.	225|.	Q92547|.	TOPB1_HUMAN|.	R|V	225|70	ENSP00000260810:H225R|.	ENSP00000260810:H225R|.	H|M	-|-	2|1	0|0	TOPBP1|TOPBP1	134856892|134856892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.179000|6.179000	0.71974|0.71974	0.713000|0.713000	0.32060|0.32060	0.533000|0.533000	0.62120|0.62120	CAT|ATG	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	303	0.00	0	T	NM_007027		133374202	133374202	-1	no_errors	ENST00000260810	ensembl	human	known	69_37n	missense	245	37.18	145	SNP	1.000	C
TOR1AIP2	163590	genome.wustl.edu	37	1	179815881	179815881	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:179815881C>T	ENST00000367612.3	-	6	1125	c.738G>A	c.(736-738)gtG>gtA	p.V246V	TOR1AIP2_ENST00000609928.1_Silent_p.V246V	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GATTTTTGGGCACTTGCTGGG	0.483																																						dbGAP											0													53.0	60.0	58.0					1																	179815881		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.738G>A	1.37:g.179815881C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05BU2	Silent	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.V246	ENST00000367612.3	37	c.738	CCDS1334.1	1																																																																																			TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C	ENSG00000169905		0.483	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	51	0.00	0	C	NM_145034		179815881	179815881	-1	no_errors	ENST00000367612	ensembl	human	known	69_37n	silent	91	12.50	13	SNP	0.415	T
TP53INP2	58476	genome.wustl.edu	37	20	33296585	33296586	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:33296585_33296586insC	ENST00000374810.3	+	3	431_432	c.42_43insC	c.(43-45)cccfs	p.P15fs	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Frame_Shift_Ins_p.P15fs	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	15					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						GCACCCCCTCGCCCCCCGAAGA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.48dupC	20.37:g.33296591_33296591dupC	ENSP00000363943:p.Pro15fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Frame_Shift_Ins	INS	NULL	p.E16fs	ENST00000374810.3	37	c.42_43	CCDS13240.1	20																																																																																			TP53INP2	-	NULL	ENSG00000078804		0.658	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP2	HGNC	protein_coding	OTTHUMT00000078807.2	217	0.00	0	-	NM_021202		33296585	33296586	+1	no_errors	ENST00000374809	ensembl	human	known	69_37n	frame_shift_ins	148	29.86	63	INS	0.000:0.030	C
TPH2	121278	genome.wustl.edu	37	12	72366385	72366385	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:72366385C>A	ENST00000333850.3	+	6	836	c.695C>A	c.(694-696)cCc>cAc	p.P232H		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	232					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AAACTCTATCCCACTCATGCT	0.478																																						dbGAP											0													279.0	288.0	285.0					12																	72366385		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.695C>A	12.37:g.72366385C>A	ENSP00000329093:p.Pro232His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.P232H	ENST00000333850.3	37	c.695	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758328	0.89843	.	.	ENSG00000139287	ENST00000333850	D	0.99586	-6.23	5.48	5.48	0.80851	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.93462	3.42	0.80722	D	1	P	0.52316	0.952	P	0.56916	0.809	D	0.97869	1.0285	10	0.66056	D	0.02	-17.152	19.3506	0.94384	0.0:1.0:0.0:0.0	.	232	Q8IWU9	TPH2_HUMAN	H	232	ENSP00000329093:P232H	ENSP00000329093:P232H	P	+	2	0	TPH2	70652652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.814000	0.86154	2.566000	0.86566	0.462000	0.41574	CCC	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.478	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	191	0.52	1	C	NM_173353		72366385	72366385	+1	no_errors	ENST00000333850	ensembl	human	known	69_37n	missense	134	38.07	83	SNP	1.000	A
TPO	7173	genome.wustl.edu	37	2	1507748	1507748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:1507748delC	ENST00000345913.4	+	14	2506	c.2415delC	c.(2413-2415)cacfs	p.H805fs	TPO_ENST00000346956.3_Intron|TPO_ENST00000329066.4_Frame_Shift_Del_p.H805fs|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382201.3_Frame_Shift_Del_p.H748fs|TPO_ENST00000349624.3_Frame_Shift_Del_p.H632fs|TPO_ENST00000337415.3_Frame_Shift_Del_p.H805fs|TPO_ENST00000382198.1_Frame_Shift_Del_p.H632fs	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	805	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGGTGCCCACCCCCCCTGCC	0.642																																						dbGAP											0									,,,,,	7,43,4216		0,0,7,21,1,2104	67.0	64.0	65.0		,,,,,	0.8	0.0	2		64	4,55,8195		0,0,4,27,1,4095	no	codingComplex,intron,codingComplex,codingComplex,codingComplex,codingComplex	TPO	NM_175722.3,NM_175721.3,NM_175719.3,NM_001206745.1,NM_001206744.1,NM_000547.5	,,,,,	0,0,11,48,2,6199	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7148,1.1721,0.8706	,,,,,	,,,,,	1507748	11,98,12411	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2415delC	2.37:g.1507748delC	ENSP00000318820:p.His805fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Frame_Shift_Del	DEL	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.C808fs	ENST00000345913.4	37	c.2415	CCDS1643.1	2																																																																																			TPO	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000115705		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	89	0.00	0	C	NM_000547		1507748	1507748	+1	no_errors	ENST00000329066	ensembl	human	known	69_37n	frame_shift_del	77	24.04	25	DEL	0.002	-
TPRKB	51002	genome.wustl.edu	37	2	73959365	73959365	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:73959365G>C	ENST00000272424.5	-	3	295	c.189C>G	c.(187-189)caC>caG	p.H63Q	TPRKB_ENST00000409716.2_Missense_Mutation_p.H102Q|TPRKB_ENST00000485758.1_5'Flank|TPRKB_ENST00000318190.7_Missense_Mutation_p.H102Q	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	63					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						GTTTGTAGAGGTGAACTGCTT	0.363																																						dbGAP											0													142.0	130.0	134.0					2																	73959365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.189C>G	2.37:g.73959365G>C	ENSP00000272424:p.His63Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Missense_Mutation	SNP	pfam_Kinase-bd_CGI-121	p.H63Q	ENST00000272424.5	37	c.189	CCDS1927.1	2	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900471	0.52227	.	.	ENSG00000144034	ENST00000272424;ENST00000409716;ENST00000318190	T;T	0.44482	0.92;0.92	4.98	-0.249	0.13011	.	0.210963	0.48767	D	0.000171	T	0.56934	0.2019	M	0.83953	2.67	0.48571	D	0.99967	D;D;D;D	0.76494	0.999;0.993;0.997;0.991	D;P;D;D	0.75020	0.985;0.893;0.967;0.921	T	0.59595	-0.7425	10	0.13108	T	0.6	.	9.1317	0.36850	0.5436:0.0:0.4564:0.0	.	30;63;102;30	B4DHS0;Q9Y3C4;Q9Y3C4-3;Q9Y3C4-2	.;TPRKB_HUMAN;.;.	Q	63;102;102	ENSP00000386936:H102Q;ENSP00000325398:H102Q	ENSP00000272424:H63Q	H	-	3	2	TPRKB	73812873	0.984000	0.35163	0.998000	0.56505	0.998000	0.95712	0.050000	0.14120	-0.027000	0.13873	0.549000	0.68633	CAC	TPRKB	-	pfam_Kinase-bd_CGI-121	ENSG00000144034		0.363	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRKB	HGNC	protein_coding	OTTHUMT00000252046.2	494	0.00	0	G	NM_016058		73959365	73959365	-1	no_errors	ENST00000272424	ensembl	human	known	69_37n	missense	338	31.79	158	SNP	0.995	C
TPST2	8459	genome.wustl.edu	37	22	26932298	26932299	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:26932298_26932299insGG	ENST00000338754.4	-	4	1266_1267	c.996_997insCC	c.(994-999)cccaacfs	p.N333fs	TPST2_ENST00000398110.2_Frame_Shift_Ins_p.N333fs|TPST2_ENST00000403880.1_Frame_Shift_Ins_p.N333fs	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	333					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TTGCCATAGTTGGGGGGGTTTG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.995_996dupCC	22.37:g.26932303_26932304dupGG	ENSP00000339813:p.Asn333fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQA7|Q6FI98|Q9H0V4	Frame_Shift_Ins	INS	pfam_Sulfotransferase_dom	p.N332fs	ENST00000338754.4	37	c.997_996	CCDS13839.1	22																																																																																			TPST2	-	NULL	ENSG00000128294		0.584	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	170	0.00	0	-	NM_003595		26932298	26932299	-1	no_errors	ENST00000338754	ensembl	human	known	69_37n	frame_shift_ins	115	28.57	46	INS	1.000:0.999	GG
TRAF5	7188	genome.wustl.edu	37	1	211533923	211533923	+	Intron	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:211533923A>G	ENST00000261464.5	+	6	597				TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Intron|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Intron	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5						apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTTTGGAATTAGGCAATAACT	0.338																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.544-121A>G	1.37:g.211533923A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIS9|B4E0A2|Q6FHY1	RNA	SNP	-	NULL	ENST00000261464.5	37	NULL	CCDS1497.1	1																																																																																			TRAF5	-	-	ENSG00000082512		0.338	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	86	0.00	0	A	NM_004619		211533923	211533923	+1	no_errors	ENST00000462410	ensembl	human	known	69_37n	rna	155	17.89	34	SNP	0.001	G
TRAPPC11	60684	genome.wustl.edu	37	4	184603899	184603899	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:184603899T>A	ENST00000334690.6	+	11	1330	c.1128T>A	c.(1126-1128)taT>taA	p.Y376*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.Y376*|TRAPPC11_ENST00000512476.1_5'Flank	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	376					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CTGTAATGTATCCCAATCCTG	0.358																																						dbGAP											0													97.0	95.0	96.0					4																	184603899		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1128T>A	4.37:g.184603899T>A	ENSP00000335371:p.Tyr376*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.Y376*	ENST00000334690.6	37	c.1128	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	T	39	7.626201	0.98396	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	4.96	1.15	0.20763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6425	0.33985	0.0:0.313:0.0:0.687	.	.	.	.	X	376	.	ENSP00000335371:Y376X	Y	+	3	2	C4orf41	184840893	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	0.454000	0.21827	0.040000	0.15660	0.383000	0.25322	TAT	TRAPPC11	-	pfam_Foie-gras_1	ENSG00000168538		0.358	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	217	0.46	1	T	NM_021942		184603899	184603899	+1	no_errors	ENST00000334690	ensembl	human	known	69_37n	nonsense	175	36.59	101	SNP	1.000	A
TRAT1	50852	genome.wustl.edu	37	3	108572596	108572596	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:108572596G>A	ENST00000295756.6	+	6	663	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	TRAT1_ENST00000426646.1_Missense_Mutation_p.A108T	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	145					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGCAATAGATGCCAGCGTTTC	0.448																																						dbGAP											0													100.0	92.0	95.0					3																	108572596		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.433G>A	3.37:g.108572596G>A	ENSP00000295756:p.Ala145Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZX5	Missense_Mutation	SNP	NULL	p.A145T	ENST00000295756.6	37	c.433	CCDS33813.1	3	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817950	0.32145	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.35605	1.3;1.53	5.09	-0.414	0.12359	.	0.794703	0.11559	N	0.551876	T	0.22627	0.0546	L	0.34521	1.04	0.09310	N	1	B;B	0.19331	0.035;0.019	B;B	0.15484	0.013;0.013	T	0.26883	-1.0090	10	0.19147	T	0.46	-10.9248	7.5805	0.27961	0.5429:0.0:0.4571:0.0	.	108;145	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	T	145;108	ENSP00000295756:A145T;ENSP00000410097:A108T	ENSP00000295756:A145T	A	+	1	0	TRAT1	110055286	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.098000	0.11024	0.017000	0.15025	0.655000	0.94253	GCC	TRAT1	-	NULL	ENSG00000163519		0.448	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	HGNC	protein_coding	OTTHUMT00000353794.1	205	0.00	0	G	NM_016388		108572596	108572596	+1	no_errors	ENST00000295756	ensembl	human	known	69_37n	missense	154	39.69	102	SNP	0.001	A
TRIM16L	147166	genome.wustl.edu	37	17	18635399	18635399	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:18635399T>C	ENST00000449552.2	+	6	1899	c.415T>C	c.(415-417)Tat>Cat	p.Y139H	TRIM16L_ENST00000572555.1_Missense_Mutation_p.Y139H|TRIM16L_ENST00000395671.4_Missense_Mutation_p.Y139H|TRIM16L_ENST00000571708.1_Missense_Mutation_p.Y139H|TRIM16L_ENST00000395672.2_Missense_Mutation_p.Y139H|TRIM16L_ENST00000395902.3_Missense_Mutation_p.Y193H|TRIM16L_ENST00000414850.2_Intron			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	139	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TCAGCGCAAATATTGGACTTC	0.478																																						dbGAP											0													158.0	129.0	139.0					17																	18635399		2203	4300	6503	-	-	-	SO:0001583	missense	0			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.415T>C	17.37:g.18635399T>C	ENSP00000461386:p.Tyr139His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.Y193H	ENST00000449552.2	37	c.577	CCDS32588.1	17	.	.	.	.	.	.	.	.	.	.	t	1.670	-0.509270	0.04231	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.67698	-0.27;-0.28;-0.28	3.33	-0.26	0.12967	B30.2/SPRY domain (1);	0.255981	0.32161	U	0.006499	T	0.48241	0.1489	L	0.38531	1.155	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.25257	-1.0137	10	0.23302	T	0.38	.	7.1963	0.25855	0.0:0.5007:0.0:0.4993	.	193;355;139	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	H	193;139;139	ENSP00000379239:Y193H;ENSP00000379031:Y139H;ENSP00000379030:Y139H	ENSP00000379030:Y139H	Y	+	1	0	TRIM16L	18576124	0.962000	0.33011	0.001000	0.08648	0.418000	0.31294	1.083000	0.30815	-0.312000	0.08741	-0.554000	0.04202	TAT	TRIM16L	-	pfscan_B30.2/SPRY	ENSG00000108448		0.478	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	456	0.00	0	T	NM_001037330		18635399	18635399	+1	no_errors	ENST00000395902	ensembl	human	known	69_37n	missense	342	34.23	178	SNP	0.000	C
TRIM17	51127	genome.wustl.edu	37	1	228596779	228596779	+	Intron	DEL	C	C	-	rs199722854		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:228596779delC	ENST00000366697.2	-	5	1840				TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.G326fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S327fs*8(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ACTTGTAGAACCCCCCCCATT	0.567																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)							,,	114,5,4147		2,0,110,1,3,2017	58.0	71.0	67.0		,,	-2.4	0.0	1		67	19,8,8227		0,0,19,1,6,4101	no	intron,codingComplex,intron	TRIM17	NM_016102.3,NM_001134855.1,NM_001024940.2	,,	2,0,129,2,9,6118	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3271,2.7895,1.1661	,,	,,	228596779	133,13,12374	692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+93G>-	1.37:g.228596779delC		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVJ2|Q5VST8	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.G326fs	ENST00000366697.2	37	c.977	CCDS1571.1	1																																																																																			TRIM17	-	NULL	ENSG00000162931		0.567	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	103	0.00	0	C	NM_016102		228596779	228596779	-1	no_errors	ENST00000456946	ensembl	human	known	69_37n	frame_shift_del	170	14.29	29	DEL	0.000	-
TRIM17	51127	genome.wustl.edu	37	1	228598716	228598716	+	Silent	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:228598716A>T	ENST00000366697.2	-	3	1643	c.687T>A	c.(685-687)ggT>ggA	p.G229G	TRIM17_ENST00000366698.2_Silent_p.G229G|TRIM17_ENST00000295033.3_Silent_p.G229G|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Silent_p.G229G			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	229					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCAGAGAGTGACCCTGCCGGT	0.662																																						dbGAP											0													24.0	28.0	27.0					1																	228598716		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.687T>A	1.37:g.228598716A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVJ2|Q5VST8	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.G229	ENST00000366697.2	37	c.687	CCDS1571.1	1																																																																																			TRIM17	-	NULL	ENSG00000162931		0.662	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	27	0.00	0	A	NM_016102		228598716	228598716	-1	no_errors	ENST00000295033	ensembl	human	known	69_37n	silent	65	18.07	15	SNP	0.470	T
TRIM27	5987	genome.wustl.edu	37	6	28876593	28876593	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:28876593T>C	ENST00000377199.3	-	6	1267	c.911A>G	c.(910-912)aAa>aGa	p.K304R	TRIM27_ENST00000498117.1_5'Flank|TRIM27_ENST00000377194.3_Missense_Mutation_p.K304R	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	304	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ACCTTGGATTTTCTCCATATC	0.373			T	RET	papillary thyroid																																	dbGAP		Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													76.0	78.0	77.0					6																	28876593		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.911A>G	6.37:g.28876593T>C	ENSP00000366404:p.Lys304Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.K304R	ENST00000377199.3	37	c.911	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587980	0.46110	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.63580	0.49;-0.05	4.47	4.47	0.54385	B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000021	T	0.50531	0.1621	L	0.38175	1.15	0.28827	N	0.897351	P;B;B	0.46578	0.88;0.275;0.004	P;B;B	0.62184	0.899;0.037;0.001	T	0.38628	-0.9652	10	0.14656	T	0.56	.	10.4452	0.44490	0.0:0.0:0.0:1.0	.	371;304;304	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	R	304	ENSP00000366404:K304R;ENSP00000366399:K304R	ENSP00000366399:K304R	K	-	2	0	TRIM27	28984572	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.820000	0.48057	2.241000	0.73720	0.533000	0.62120	AAA	TRIM27	-	pfscan_B30.2/SPRY	ENSG00000204713		0.373	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	284	0.00	0	T	NM_030950		28876593	28876593	-1	no_errors	ENST00000377199	ensembl	human	known	69_37n	missense	196	40.96	136	SNP	1.000	C
TRIM34	53840	genome.wustl.edu	37	11	5653667	5653667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:5653667C>T	ENST00000514226.1	+	2	443	c.106C>T	c.(106-108)Cga>Tga	p.R36*	TRIM6-TRIM34_ENST00000354852.5_Nonsense_Mutation_p.R390*|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Nonsense_Mutation_p.R36*|TRIM6-TRIM34_ENST00000457787.2_Nonsense_Mutation_p.R36*	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	36					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCTCTGCCGAGCCTGCAT	0.502																																						dbGAP											0													123.0	112.0	116.0					11																	5653667		2201	4297	6498	-	-	-	SO:0001587	stop_gained	0			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.106C>T	11.37:g.5653667C>T	ENSP00000422947:p.Arg36*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.R390*	ENST00000514226.1	37	c.1168	CCDS31391.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.066680	0.97251	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	.	.	.	3.07	2.13	0.27403	.	0.540158	0.13958	N	0.351012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	9.5275	0.39173	0.2121:0.7879:0.0:0.0	.	.	.	.	X	390;36;36;36;390	.	ENSP00000402595:R36X	R	+	1	2	TRIM34;TRIM6-TRIM34	5610243	0.141000	0.22595	0.457000	0.27056	0.387000	0.30353	0.595000	0.24029	0.842000	0.35045	0.555000	0.69702	CGA	TRIM34	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000258659		0.502	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM34	HGNC	protein_coding	OTTHUMT00000143357.2	185	0.00	0	C	NM_001003827		5653667	5653667	+1	no_errors	ENST00000337072	ensembl	human	known	69_37n	nonsense	160	39.34	107	SNP	0.961	T
TRIM3	10612	genome.wustl.edu	37	11	6477399	6477399	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:6477399C>T	ENST00000525074.1	-	7	1830	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	479					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532																																					Melanoma(6;5 510 1540 25169 29084)	dbGAP											0													104.0	94.0	97.0					11																	6477399		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1436G>A	11.37:g.6477399C>T	ENSP00000433102:p.Arg479His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R479H	ENST00000525074.1	37	c.1436	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367974	0.61513	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	T;T;T;T;D	0.83914	-0.66;-0.66;-0.84;-0.66;-1.78	5.66	4.75	0.60458	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	N	0.19112	0.55	0.48341	D	0.999638	P;B	0.34892	0.474;0.188	B;B	0.26969	0.075;0.023	T	0.62826	-0.6772	10	0.19147	T	0.46	-11.2427	9.8247	0.40905	0.0:0.842:0.0:0.158	.	360;479	F5H2Q8;O75382	.;TRIM3_HUMAN	H	479;479;479;479;468;401;479;360	ENSP00000433102:R479H;ENSP00000340797:R479H;ENSP00000441091:R401H;ENSP00000352508:R479H;ENSP00000445460:R360H	ENSP00000337094:R468H	R	-	2	0	TRIM3	6433975	0.993000	0.37304	0.998000	0.56505	0.989000	0.77384	3.092000	0.50207	1.391000	0.46566	0.563000	0.77884	CGT	TRIM3	-	pfscan_NHL_repeat_subgr	ENSG00000110171		0.532	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	187	0.00	0	C	NM_006458		6477399	6477399	-1	no_errors	ENST00000345851	ensembl	human	known	69_37n	missense	125	36.87	73	SNP	0.992	T
TRIM46	80128	genome.wustl.edu	37	1	155156289	155156289	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:155156289G>T	ENST00000334634.4	+	10	1903	c.1903G>T	c.(1903-1905)Ggg>Tgg	p.G635W	MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000545012.1_Missense_Mutation_p.G509W|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.G612W|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000468878.1_3'UTR	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	635	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCGGACAGCGGGCACGACAG	0.622																																						dbGAP											0													54.0	51.0	52.0					1																	155156289		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1903G>T	1.37:g.155156289G>T	ENSP00000334657:p.Gly635Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.G635W	ENST00000334634.4	37	c.1903	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638121	0.67130	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	D;T;T	0.83163	-1.69;-1.18;-1.19	3.66	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	D	0.87229	0.6125	M	0.67397	2.05	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.88754	0.3252	10	0.87932	D	0	.	13.2723	0.60167	0.0:0.0:1.0:0.0	.	635	Q7Z4K8	TRI46_HUMAN	W	593;509;612;635	ENSP00000440254:G509W;ENSP00000357366:G612W;ENSP00000334657:G635W	ENSP00000334657:G635W	G	+	1	0	TRIM46	153422913	1.000000	0.71417	0.948000	0.38648	0.762000	0.43233	8.994000	0.93529	2.065000	0.61736	0.313000	0.20887	GGG	TRIM46	-	superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000163462		0.622	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	41	0.00	0	G	NM_025058		155156289	155156289	+1	no_errors	ENST00000334634	ensembl	human	known	69_37n	missense	59	16.67	12	SNP	1.000	T
TRIM67	440730	genome.wustl.edu	37	1	231339666	231339666	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:231339666G>A	ENST00000366653.5	+	6	1588	c.1588G>A	c.(1588-1590)Gtc>Atc	p.V530I	TRIM67_ENST00000444294.3_Missense_Mutation_p.V528I|TRIM67_ENST00000366652.2_Missense_Mutation_p.V530I|TRIM67_ENST00000449018.3_Missense_Mutation_p.V468I			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	530	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TAACAACAGCGTCACGCTGGC	0.662																																						dbGAP											0													48.0	58.0	55.0					1																	231339666		2121	4219	6340	-	-	-	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1588G>A	1.37:g.231339666G>A	ENSP00000355613:p.Val530Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.V530I	ENST00000366653.5	37	c.1588	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692410	0.68271	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.119091	0.56097	D	0.000033	T	0.23532	0.0569	L	0.27944	0.81	0.58432	D	0.999999	P	0.47484	0.896	B	0.40256	0.324	T	0.03103	-1.1072	10	0.12103	T	0.63	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	530	Q6ZTA4	TRI67_HUMAN	I	528;530;468;530	ENSP00000412124:V528I;ENSP00000355612:V530I;ENSP00000400163:V468I;ENSP00000355613:V530I	ENSP00000355612:V530I	V	+	1	0	TRIM67	229406289	1.000000	0.71417	0.991000	0.47740	0.562000	0.35680	9.807000	0.99171	2.618000	0.88619	0.455000	0.32223	GTC	TRIM67	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119283		0.662	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	119	0.00	0	G	NM_001004342		231339666	231339666	+1	no_errors	ENST00000366652	ensembl	human	known	69_37n	missense	245	15.52	45	SNP	1.000	A
TRIM67	440730	genome.wustl.edu	37	1	231344914	231344914	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:231344914C>T	ENST00000366653.5	+	8	2041	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	TRIM67_ENST00000444294.3_Silent_p.L679L|TRIM67_ENST00000366652.2_Silent_p.L681L|TRIM67_ENST00000449018.3_Silent_p.L619L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	681	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGACATGATGCTGGGCAAGGA	0.622																																						dbGAP											0													94.0	101.0	99.0					1																	231344914		2196	4300	6496	-	-	-	SO:0001819	synonymous_variant	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2041C>T	1.37:g.231344914C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.L681	ENST00000366653.5	37	c.2041	CCDS44333.1	1																																																																																			TRIM67	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000119283		0.622	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	243	0.41	1	C	NM_001004342		231344914	231344914	+1	no_errors	ENST00000366652	ensembl	human	known	69_37n	silent	415	18.71	96	SNP	1.000	T
TRIP13	9319	genome.wustl.edu	37	5	896907	896907	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:896907C>T	ENST00000166345.3	+	3	742	c.386C>T	c.(385-387)gCa>gTa	p.A129V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	129					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GTTCTACCTGCAGGTATGGGG	0.488																																						dbGAP											0													74.0	70.0	71.0					5																	896907		2202	4300	6502	-	-	-	SO:0001583	missense	0			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.386C>T	5.37:g.896907C>T	ENSP00000166345:p.Ala129Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C9K0T3|D3DTC0|O15324	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core	p.Q125*	ENST00000166345.3	37	c.373	CCDS3858.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.992309|3.992309	0.74703|0.74703	.|.	.|.	ENSG00000071539|ENSG00000071539	ENST00000166345;ENST00000354240|ENST00000513435	D|.	0.95103|.	-3.61|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77301|.	0.4110|.	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	P|.	0.45283|.	0.855|.	B|.	0.38803|.	0.282|.	T|.	0.78435|.	-0.2205|.	10|.	0.49607|.	T|.	0.09|.	-10.0252|-10.0252	17.9491|17.9491	0.89047|0.89047	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129|.	Q15645|.	PCH2_HUMAN|.	V|X	129|125	ENSP00000166345:A129V|.	ENSP00000166345:A129V|.	A|Q	+|+	2|1	0|0	TRIP13|TRIP13	949907|949907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.693000|0.693000	0.40251|0.40251	7.140000|7.140000	0.77322|0.77322	2.338000|2.338000	0.79540|0.79540	0.491000|0.491000	0.48974|0.48974	GCA|CAG	TRIP13	-	NULL	ENSG00000071539		0.488	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP13	HGNC	protein_coding	OTTHUMT00000206721.2	302	0.00	0	C	NM_004237		896907	896907	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513435	ensembl	human	putative	69_37n	nonsense	209	34.48	110	SNP	1.000	T
TRNAU1AP	54952	genome.wustl.edu	37	1	28893900	28893900	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:28893900C>T	ENST00000373830.3	+	6	531	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	169	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						TAAGCCTGTGCGGCTGAGCGT	0.542																																						dbGAP											0													104.0	102.0	102.0					1																	28893900		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.505C>T	1.37:g.28893900C>T	ENSP00000362936:p.Arg169Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R169W	ENST00000373830.3	37	c.505	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.202744	0.94997	.	.	ENSG00000180098	ENST00000373830	T	0.06933	3.24	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.55842	-0.8077	10	0.66056	D	0.02	.	16.6867	0.85310	0.0:1.0:0.0:0.0	.	169	Q9NX07	TSAP1_HUMAN	W	169	ENSP00000362936:R169W	ENSP00000362936:R169W	R	+	1	2	TRNAU1AP	28766487	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.981000	0.63819	2.728000	0.93425	0.643000	0.83706	CGG	TRNAU1AP	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000180098		0.542	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	360	0.28	1	C	NM_017846		28893900	28893900	+1	no_errors	ENST00000373830	ensembl	human	known	69_37n	missense	190	39.17	123	SNP	1.000	T
TRO	7216	genome.wustl.edu	37	X	54948666	54948666	+	5'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:54948666G>A	ENST00000173898.7	+	0	99				TRO_ENST00000399736.1_5'UTR|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375041.2_5'UTR|TRO_ENST00000319167.8_5'UTR|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_5'UTR	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin						embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCTGTTACTCGGCCTCCCAGA	0.527																																						dbGAP											0													96.0	87.0	90.0					X																	54948666		1947	4119	6066	-	-	-	SO:0001623	5_prime_UTR_variant	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.-14G>A	X.37:g.54948666G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	RNA	SNP	-	NULL	ENST00000173898.7	37	NULL	CCDS43959.1	X																																																																																			TRO	-	-	ENSG00000067445		0.527	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	578	0.34	2	G	NM_016157		54948666	54948666	+1	no_errors	ENST00000474933	ensembl	human	known	69_37n	rna	371	40.26	250	SNP	0.000	A
TRPM5	29850	genome.wustl.edu	37	11	2434054	2434055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:2434054_2434055insG	ENST00000155858.6	-	15	2292_2293	c.2284_2285insC	c.(2284-2286)cagfs	p.Q762fs	TRPM5_ENST00000533060.1_Frame_Shift_Ins_p.Q762fs|TRPM5_ENST00000452833.1_Frame_Shift_Ins_p.Q764fs|TRPM5_ENST00000528453.1_Frame_Shift_Ins_p.Q762fs	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGGGGCCCTGGGGGGGCGGC	0.639																																					NSCLC(1;49 61 17205 18850 43201)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2285dupC	11.37:g.2434061_2434061dupG	ENSP00000155858:p.Gln762fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	superfamily_Ankyrin_rpt-contain_dom	p.Q764fs	ENST00000155858.6	37	c.2291_2290	CCDS31340.1	11																																																																																			TRPM5	-	NULL	ENSG00000070985		0.639	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	37	0.00	0	-	NM_014555		2434054	2434055	-1	no_errors	ENST00000452833	ensembl	human	known	69_37n	frame_shift_ins	40	20.00	10	INS	0.009:0.011	G
TSPAN16	26526	genome.wustl.edu	37	19	11417267	11417269	+	Intron	DEL	CTC	CTC	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:11417267_11417269delCTC	ENST00000316737.1	+	5	600				CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Intron|TSPAN16_ENST00000590327.1_Intron	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AGTATTTCTTCTCCTCTCTATAG	0.443																																						dbGAP											0										7,4257		2,3,2127						-0.5	0.0			74	4,8250		2,0,4125	no	intron	TSPAN16	NM_012466.2		4,3,6252	A1A1,A1R,RR		0.0485,0.1642,0.0879				11,12507				-	-	-	SO:0001627	intron_variant	0			BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.451-11CTC>-	19.37:g.11417270_11417272delCTC		Somatic		WXS	Illumina GAIIx	Phase_IV	K7EN22|K7EPD8|Q8N6J7	In_Frame_Del	DEL	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	p.S159in_frame_del	ENST00000316737.1	37	c.471_473	CCDS12256.1	19																																																																																			TSPAN16	-	NULL	ENSG00000130167		0.443	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	TSPAN16	HGNC	protein_coding	OTTHUMT00000453204.1	151	0.00	0	CTC	NM_012466		11417267	11417269	+1	no_errors	ENST00000337994	ensembl	human	known	69_37n	in_frame_del	50	69.14	112	DEL	0.000:0.000:0.000	-
TSPEAR	54084	genome.wustl.edu	37	21	45919820	45919820	+	Splice_Site	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr21:45919820C>A	ENST00000323084.4	-	12	1922		c.e12-1			NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats						sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCCCTGCCACCTGCGGAACAG	0.711																																						dbGAP											0													15.0	14.0	15.0					21																	45919820		2185	4281	6466	-	-	-	SO:0001630	splice_region_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1857-1G>T	21.37:g.45919820C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Splice_Site	SNP	-	e12-1	ENST00000323084.4	37	c.1857-1	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509479	0.85282	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2572	0.87060	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSPEAR	44744248	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.906000	0.75719	2.150000	0.67090	0.650000	0.86243	.	TSPEAR	-	-	ENSG00000175894		0.711	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	13	0.00	0	C	NM_144991	Intron	45919820	45919820	-1	no_errors	ENST00000323084	ensembl	human	known	69_37n	splice_site	13	31.58	6	SNP	1.000	A
TSPYL2	64061	genome.wustl.edu	37	X	53114014	53114014	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:53114014G>C	ENST00000375442.4	+	3	1095	c.963G>C	c.(961-963)atG>atC	p.M321I		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	321					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						TCACAAACATGGTGATTGTCA	0.498																																						dbGAP											0													122.0	96.0	105.0					X																	53114014		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.963G>C	X.37:g.53114014G>C	ENSP00000364591:p.Met321Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.M321I	ENST00000375442.4	37	c.963	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839376	0.51057	.	.	ENSG00000184205	ENST00000375442	T	0.25250	1.81	3.78	3.78	0.43462	.	0.000000	0.52532	D	0.000075	T	0.23886	0.0578	N	0.14661	0.345	0.27721	N	0.945112	D	0.53885	0.963	P	0.60117	0.869	T	0.03739	-1.1008	10	0.33141	T	0.24	-21.2627	6.3969	0.21616	0.133:0.0:0.867:0.0	.	321	Q9H2G4	TSYL2_HUMAN	I	321	ENSP00000364591:M321I	ENSP00000364591:M321I	M	+	3	0	TSPYL2	53130739	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.611000	0.36879	2.142000	0.66516	0.513000	0.50165	ATG	TSPYL2	-	pfam_NAP_family	ENSG00000184205		0.498	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	285	0.00	0	G	NM_022117		53114014	53114014	+1	no_errors	ENST00000375442	ensembl	human	known	69_37n	missense	176	37.37	105	SNP	1.000	C
TSSC1	7260	genome.wustl.edu	37	2	3217957	3217957	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:3217957A>G	ENST00000382125.4	-	5	671	c.479T>C	c.(478-480)cTg>cCg	p.L160P	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000443925.2_Missense_Mutation_p.L160P|TSSC1_ENST00000398659.4_Missense_Mutation_p.L187P	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	160										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ATCCCACAGCAGGATATGGTT	0.423																																					Colon(140;1261 1762 4183 34270 49743)	dbGAP											0													128.0	118.0	121.0					2																	3217957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.479T>C	2.37:g.3217957A>G	ENSP00000371559:p.Leu160Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L160P	ENST00000382125.4	37	c.479	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483122	0.63962	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.14640	2.49;2.49;2.49	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.151604	0.45126	D	0.000395	T	0.17365	0.0417	M	0.71581	2.175	0.80722	D	1	P	0.50710	0.938	B	0.40410	0.328	T	0.03684	-1.1013	10	0.36615	T	0.2	-1.0876	12.9346	0.58307	1.0:0.0:0.0:0.0	.	160	Q53HC9	TSSC1_HUMAN	P	160;187;160	ENSP00000371559:L160P;ENSP00000381652:L187P;ENSP00000389080:L160P	ENSP00000371559:L160P	L	-	2	0	TSSC1	3196964	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.100000	0.89544	1.994000	0.58287	0.533000	0.62120	CTG	TSSC1	-	smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000032389		0.423	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	250	0.00	0	A	NM_003310		3217957	3217957	-1	no_errors	ENST00000382125	ensembl	human	known	69_37n	missense	158	34.71	84	SNP	1.000	G
TTC17	55761	genome.wustl.edu	37	11	43411286	43411286	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:43411286C>T	ENST00000039989.4	+	3	348	c.334C>T	c.(334-336)Cca>Tca	p.P112S	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.P112S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	112					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TAAAGAAGACCCAGACTGCAT	0.408																																						dbGAP											0													149.0	140.0	143.0					11																	43411286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.334C>T	11.37:g.43411286C>T	ENSP00000039989:p.Pro112Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P112S	ENST00000039989.4	37	c.334	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243620	0.58995	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.30981	1.52;1.51	4.87	4.87	0.63330	.	0.048707	0.85682	D	0.000000	T	0.43590	0.1254	L	0.40543	1.245	0.51233	D	0.999911	D;P;D	0.62365	0.985;0.879;0.991	P;B;P	0.58780	0.78;0.34;0.845	T	0.25813	-1.0121	10	0.44086	T	0.13	-9.624	18.3743	0.90430	0.0:1.0:0.0:0.0	.	112;112;112	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	S	112	ENSP00000299240:P112S;ENSP00000039989:P112S	ENSP00000039989:P112S	P	+	1	0	TTC17	43367862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.518000	0.45537	2.400000	0.81607	0.563000	0.77884	CCA	TTC17	-	NULL	ENSG00000052841		0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	244	0.00	0	C	NM_018259		43411286	43411286	+1	no_errors	ENST00000039989	ensembl	human	known	69_37n	missense	167	37.31	100	SNP	1.000	T
TTC25	83538	genome.wustl.edu	37	17	40101480	40101480	+	RNA	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:40101480A>T	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTGACACGTGAGTGACCAAGA	0.463																																						dbGAP											0													41.0	36.0	37.0					17																	40101480		1880	4109	5989	-	-	-			0			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40101480A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754803	0.49362	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.30907	N	0.729093	B	0.24823	0.112	B	0.19148	0.024	T	0.44605	-0.9317	6	0.87932	D	0	.	3.7161	0.08438	0.6586:0.137:0.0732:0.1312	.	239	C9JGW6	.	V	239	.	ENSP00000366763:E239V	E	+	2	0	AC091172.1	37355006	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.075000	0.41538	2.083000	0.62718	0.450000	0.29827	GAG	TTC25	-	-	ENSG00000204815		0.463	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	103	0.00	0	A	NM_031421		40101480	40101480	+1	no_errors	ENST00000377540	ensembl	human	known	69_37n	rna	39	50.00	39	SNP	1.000	T
TTC28	23331	genome.wustl.edu	37	22	28503539	28503539	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:28503539C>T	ENST00000397906.2	-	7	2435	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	765					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CTGGATCATTCGGTATGCAGT	0.507																																						dbGAP											0													97.0	78.0	84.0					22																	28503539		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.2294G>A	22.37:g.28503539C>T	ENSP00000381003:p.Arg765Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R765Q	ENST00000397906.2	37	c.2294	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424445	0.83667	.	.	ENSG00000100154	ENST00000397906	T	0.76186	-1.0	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84547	0.0642	10	0.45353	T	0.12	-10.1666	18.7154	0.91673	0.0:1.0:0.0:0.0	.	765	Q96AY4	TTC28_HUMAN	Q	765	ENSP00000381003:R765Q	ENSP00000381003:R765Q	R	-	2	0	TTC28	26833539	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.546000	0.67243	2.646000	0.89796	0.655000	0.94253	CGA	TTC28	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000100154		0.507	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	237	0.00	0	C	XM_929318		28503539	28503539	-1	no_errors	ENST00000397906	ensembl	human	novel	69_37n	missense	142	35.75	79	SNP	1.000	T
CFAP46	54777	genome.wustl.edu	37	10	134735720	134735720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:134735720delT	ENST00000368586.5	-	13	1594	c.1494delA	c.(1492-1494)aaafs	p.K498fs	TTC40_ENST00000368582.2_Frame_Shift_Del_p.K498fs	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTGGTGTAGCTTTTTTTGCCT	0.572																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000368586.5:c.1494delA	10.37:g.134735720delT	ENSP00000357575:p.Lys498fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.A499fs	ENST00000368586.5	37	c.1494	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.572	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	22	0.00	0	T			134735720	134735720	-1	no_errors	ENST00000368582	ensembl	human	known	69_37n	frame_shift_del	18	20.83	5	DEL	0.314	-
TTLL11	158135	genome.wustl.edu	37	9	124584995	124584995	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:124584995C>T	ENST00000321582.5	-	9	2461	c.2274G>A	c.(2272-2274)tcG>tcA	p.S758S	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GCCGGCCCCCCGACGGGACGC	0.682																																						dbGAP											0													19.0	18.0	18.0					9																	124584995		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.2274G>A	9.37:g.124584995C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Tub_tyr_ligase	p.S758	ENST00000321582.5	37	c.2274	CCDS48012.1	9																																																																																			TTLL11	-	NULL	ENSG00000175764		0.682	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		33	0.00	0	C	XM_088486		124584995	124584995	-1	no_errors	ENST00000321582	ensembl	human	known	69_37n	silent	20	35.48	11	SNP	0.000	T
TTLL3	26140	genome.wustl.edu	37	3	9860332	9860332	+	Intron	SNP	G	G	A	rs567584897		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:9860332G>A	ENST00000547186.1	+	6	646				TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000397241.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000426895.4_Intron|TTLL3_ENST00000455274.1_5'Flank|TTLL3_ENST00000383827.1_5'UTR|TTLL3_ENST00000430793.1_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					gattacaggcgtcagccaccg	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19504	0.001		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.431-174G>A	3.37:g.9860332G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	RNA	SNP	-	NULL	ENST00000547186.1	37	NULL		3																																																																																			TTLL3	-	-	ENSG00000214021		0.517	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		19	0.00	0	G	NM_001025930.2		9860332	9860332	+1	no_errors	ENST00000474948	ensembl	human	known	69_37n	rna	8	46.67	7	SNP	0.001	A
TTN	7273	genome.wustl.edu	37	2	179452813	179452813	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:179452813T>C	ENST00000591111.1	-	255	58622	c.58398A>G	c.(58396-58398)atA>atG	p.I19466M	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I18539M|TTN_ENST00000359218.5_Missense_Mutation_p.I12167M|TTN_ENST00000460472.2_Missense_Mutation_p.I12042M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I21107M|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I12234M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19466	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCATCTGCTATTTTTGGTC	0.448																																						dbGAP											0													96.0	93.0	94.0					2																	179452813		1995	4167	6162	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58398A>G	2.37:g.179452813T>C	ENSP00000465570:p.Ile19466Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I18539M	ENST00000591111.1	37	c.55617		2	.	.	.	.	.	.	.	.	.	.	T	6.381	0.438344	0.12104	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	6.05	1.18	0.20946	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25457	0.0619	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.002;0.002;0.003;0.003	T	0.23655	-1.0182	9	0.87932	D	0	.	3.9031	0.09171	0.3371:0.217:0.0:0.4459	.	12042;12167;12234;19466	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	18539;12042;12234;12167;12040	ENSP00000343764:I18539M;ENSP00000434586:I12042M;ENSP00000340554:I12234M;ENSP00000352154:I12167M	ENSP00000340554:I12234M	I	-	3	3	TTN	179161059	0.000000	0.05858	0.003000	0.11579	0.994000	0.84299	-0.553000	0.06012	0.524000	0.28502	0.528000	0.53228	ATA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	217	0.46	1	T	NM_133378		179452813	179452813	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	147	37.45	88	SNP	0.001	C
TTN	7273	genome.wustl.edu	37	2	179489400	179489400	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:179489400A>G	ENST00000591111.1	-	192	39908	c.39684T>C	c.(39682-39684)acT>acC	p.T13228T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T12301T|TTN_ENST00000359218.5_Silent_p.T5929T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.T5804T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.T14869T|TTN_ENST00000342175.6_Silent_p.T5996T			Q8WZ42	TITIN_HUMAN	titin	13228	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCACTGCAGTGGCTCCCT	0.448																																						dbGAP											0													71.0	69.0	69.0					2																	179489400		1849	4091	5940	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39684T>C	2.37:g.179489400A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T12301	ENST00000591111.1	37	c.36903		2																																																																																			TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	128	0.00	0	A	NM_133378		179489400	179489400	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	86	39.01	55	SNP	0.994	G
TTN	7273	genome.wustl.edu	37	2	179612822	179612823	+	Intron	INS	-	-	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:179612822_179612823insT	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Ins_p.A4769fs|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTTGCTGCTTTTTTCAAAT	0.426																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5027->A	2.37:g.179612828_179612828dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A4768fs	ENST00000591111.1	37	c.14305_14304		2																																																																																			TTN	-	NULL	ENSG00000155657		0.426	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	268	0.00	0	-	NM_133378		179612822	179612823	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	frame_shift_ins	232	34.83	124	INS	1.000:1.000	T
TUBA3E	112714	genome.wustl.edu	37	2	130952658	130952658	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:130952658G>A	ENST00000312988.7	-	3	469	c.369C>T	c.(367-369)cgC>cgT	p.R123R		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	123					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTACCAGTTTGCGGATCCGGT	0.493																																						dbGAP											0													148.0	142.0	144.0					2																	130952658		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.369C>T	2.37:g.130952658G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	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	p.R123	ENST00000312988.7	37	c.369	CCDS2158.1	2																																																																																			TUBA3E	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin	ENSG00000152086		0.493	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	400	0.00	0	G	NM_207312		130952658	130952658	-1	no_errors	ENST00000312988	ensembl	human	known	69_37n	silent	252	45.22	208	SNP	1.000	A
TUBA3D	113457	genome.wustl.edu	37	2	132235829	132235829	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:132235829C>T	ENST00000321253.6	+	2	203	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	32					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GAATTCAGCCCGATGGCCAAA	0.562																																					Ovarian(137;2059 2432 35543 39401)	dbGAP											0													172.0	151.0	158.0					2																	132235829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.96C>T	2.37:g.132235829C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	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.P32	ENST00000321253.6	37	c.96	CCDS33290.1	2																																																																																			TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin	ENSG00000075886		0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	451	0.22	1	C	NM_080386		132235829	132235829	+1	no_errors	ENST00000321253	ensembl	human	known	69_37n	silent	299	33.85	153	SNP	0.969	T
TUBD1	51174	genome.wustl.edu	37	17	57958422	57958422	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:57958422G>A	ENST00000592426.1	-	3	370	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	TUBD1_ENST00000340993.6_Missense_Mutation_p.R124W|TUBD1_ENST00000325752.3_Missense_Mutation_p.R124W|TUBD1_ENST00000394239.3_Missense_Mutation_p.R124W|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.R124W|TUBD1_ENST00000539018.1_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	124					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	ACTTCCTTCCGGATTATGTTC	0.398																																						dbGAP											0													118.0	111.0	113.0					17																	57958422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.370C>T	17.37:g.57958422G>A	ENSP00000468518:p.Arg124Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.R124W	ENST00000592426.1	37	c.370	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431309	0.62844	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.164918	0.56097	D	0.000035	D	0.90239	0.6948	M	0.92317	3.295	0.42311	D	0.992214	D;D;D;D;D	0.89917	0.997;0.999;0.984;0.999;1.0	D;D;P;D;D	0.81914	0.98;0.983;0.727;0.985;0.995	D	0.91435	0.5169	10	0.87932	D	0	-2.7991	20.6721	0.99693	0.0:0.0:1.0:0.0	.	124;124;124;124;124	E9PCA7;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	W	124	ENSP00000320797:R124W;ENSP00000342399:R124W;ENSP00000377785:R124W;ENSP00000365262:R124W	ENSP00000320797:R124W	R	-	1	2	TUBD1	55313204	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.914000	0.75764	2.894000	0.99253	0.591000	0.81541	CGG	TUBD1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000108423		0.398	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	228	0.43	1	G	NM_016261		57958422	57958422	-1	no_errors	ENST00000325752	ensembl	human	known	69_37n	missense	441	20.32	113	SNP	1.000	A
TXNL1	9352	genome.wustl.edu	37	18	54281731	54281731	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:54281731A>G	ENST00000217515.6	-	6	863	c.659T>C	c.(658-660)cTg>cCg	p.L220P	TXNL1_ENST00000590954.1_Missense_Mutation_p.L220P|TXNL1_ENST00000540155.1_Missense_Mutation_p.L97P	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	220	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCTCTGTCAGTTCCAGAGC	0.363																																						dbGAP											0													135.0	124.0	127.0					18																	54281731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.659T>C	18.37:g.54281731A>G	ENSP00000217515:p.Leu220Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold	p.L220P	ENST00000217515.6	37	c.659	CCDS11961.1	18	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482524	0.84747	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.24723	1.84	5.75	5.75	0.90469	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76356	-0.2989	10	0.87932	D	0	.	15.7369	0.77853	1.0:0.0:0.0:0.0	.	220;220	B2R960;O43396	.;TXNL1_HUMAN	P	220;97	ENSP00000217515:L220P	ENSP00000217515:L220P	L	-	2	0	TXNL1	52432729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.791000	0.91849	2.182000	0.69389	0.528000	0.53228	CTG	TXNL1	-	pfam_PITH_dom,superfamily_Galactose-bd-like	ENSG00000091164		0.363	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	387	0.00	0	A			54281731	54281731	-1	no_errors	ENST00000217515	ensembl	human	known	69_37n	missense	272	38.24	169	SNP	1.000	G
UBA1	7317	genome.wustl.edu	37	X	47070300	47070300	+	Silent	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:47070300C>A	ENST00000335972.6	+	19	2442	c.2259C>A	c.(2257-2259)acC>acA	p.T753T	UBA1_ENST00000377351.4_Silent_p.T753T|UBA1_ENST00000377269.3_Silent_p.T201T	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	753					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCCGCTCACCTTTGATGTCA	0.562																																						dbGAP											0													108.0	85.0	92.0					X																	47070300		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2259C>A	X.37:g.47070300C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRR8|Q96E13	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.T753	ENST00000335972.6	37	c.2259	CCDS14275.1	X																																																																																			UBA1	-	pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.562	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	404	0.00	0	C	NM_003334		47070300	47070300	+1	no_errors	ENST00000335972	ensembl	human	known	69_37n	silent	248	33.33	124	SNP	0.964	A
UBC	7316	genome.wustl.edu	37	12	125398030	125398030	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:125398030A>G	ENST00000538617.1	-	3	604	c.288T>C	c.(286-288)agT>agC	p.S96S	UBC_ENST00000339647.5_Silent_p.S96S|UBC_ENST00000546120.1_Silent_p.S96S|UBC_ENST00000536769.1_Silent_p.S96S|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	476	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGATGGTGTCACTGGGCTCGA	0.547																																						dbGAP											0													267.0	231.0	243.0					12																	125398030		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.288T>C	12.37:g.125398030A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.V66A	ENST00000538617.1	37	c.197		12																																																																																			UBC	-	smart_Ubiquitin,prints_Ubiquitin_subgr	ENSG00000150991		0.547	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	712	0.28	2	A	NM_021009		125398030	125398030	-1	no_errors	ENST00000536834	ensembl	human	known	69_37n	missense	406	39.01	261	SNP	0.993	G
UBE2O	63893	genome.wustl.edu	37	17	74396571	74396571	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:74396571C>T	ENST00000319380.7	-	7	1019	c.955G>A	c.(955-957)Gac>Aac	p.D319N	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	319					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CTGACGCTGTCCGTGCCCCCT	0.602																																						dbGAP											0													69.0	63.0	65.0					17																	74396571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.955G>A	17.37:g.74396571C>T	ENSP00000323687:p.Asp319Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D319N	ENST00000319380.7	37	c.955	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	C	29.4	5.007236	0.93287	.	.	ENSG00000175931	ENST00000319380	T	0.73681	-0.77	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.84465	0.5478	M	0.62723	1.935	0.47374	D	0.999403	D	0.63880	0.993	D	0.72338	0.977	D	0.84843	0.0809	10	0.48119	T	0.1	-30.4326	18.2061	0.89854	0.0:1.0:0.0:0.0	.	319	Q9C0C9	UBE2O_HUMAN	N	319	ENSP00000323687:D319N	ENSP00000323687:D319N	D	-	1	0	UBE2O	71908166	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	5.786000	0.69006	2.314000	0.78098	0.561000	0.74099	GAC	UBE2O	-	NULL	ENSG00000175931		0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	116	0.00	0	C	NM_022066		74396571	74396571	-1	no_errors	ENST00000319380	ensembl	human	known	69_37n	missense	210	15.66	39	SNP	0.999	T
UBE3C	9690	genome.wustl.edu	37	7	157046647	157046647	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:157046647G>T	ENST00000348165.5	+	20	3054		c.e20-1			NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C						protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTATTCCCAGGTAGTTGAAC	0.413																																						dbGAP											0													44.0	48.0	47.0					7																	157046647		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2695-1G>T	7.37:g.157046647G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Splice_Site	SNP	-	e20-1	ENST00000348165.5	37	c.2695-1	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048435	0.55110	.	.	ENSG00000009335	ENST00000348165	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8218	0.96599	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE3C	156739408	1.000000	0.71417	0.997000	0.53966	0.300000	0.27592	9.451000	0.97610	2.769000	0.95229	0.655000	0.94253	.	UBE3C	-	-	ENSG00000009335		0.413	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	69	0.00	0	G	NM_014671	Intron	157046647	157046647	+1	no_errors	ENST00000348165	ensembl	human	known	69_37n	splice_site	46	40.26	31	SNP	1.000	T
UBR2	23304	genome.wustl.edu	37	6	42627561	42627562	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:42627561_42627562insA	ENST00000372899.1	+	30	3668_3669	c.3410_3411insA	c.(3409-3414)tcaaaafs	p.SK1137fs	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Frame_Shift_Ins_p.SK1137fs	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1137					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACTGTATTATCAAAAAACAGAA	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3416dupA	6.37:g.42627567_42627567dupA	ENSP00000361990:p.Ser1137fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Frame_Shift_Ins	INS	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.N1139fs	ENST00000372899.1	37	c.3410_3411	CCDS4870.1	6																																																																																			UBR2	-	NULL	ENSG00000024048		0.371	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	245	0.00	0	-	NM_015255		42627561	42627562	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	frame_shift_ins	187	29.96	80	INS	1.000:1.000	A
UBR2	23304	genome.wustl.edu	37	6	42641867	42641867	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:42641867T>C	ENST00000372899.1	+	38	4445	c.4187T>C	c.(4186-4188)cTg>cCg	p.L1396P	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.L1396P	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1396					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCTGTAGCACTGGTGCCTAAT	0.343																																						dbGAP											0													221.0	206.0	211.0					6																	42641867		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4187T>C	6.37:g.42641867T>C	ENSP00000361990:p.Leu1396Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1396P	ENST00000372899.1	37	c.4187	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	T	19.23	3.786576	0.70337	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.60299	0.2;0.2	4.88	4.88	0.63580	.	0.184788	0.38164	N	0.001787	T	0.66046	0.2750	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68353	0.957;0.928	T	0.68985	-0.5265	10	0.49607	T	0.09	-23.6403	14.7627	0.69617	0.0:0.0:0.0:1.0	.	1396;1396	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	P	1396	ENSP00000361990:L1396P;ENSP00000361992:L1396P	ENSP00000361990:L1396P	L	+	2	0	UBR2	42749845	1.000000	0.71417	0.994000	0.49952	0.804000	0.45430	7.232000	0.78116	1.952000	0.56665	0.402000	0.26972	CTG	UBR2	-	NULL	ENSG00000024048		0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	468	0.64	3	T	NM_015255		42641867	42641867	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	322	36.09	183	SNP	1.000	C
UBR3	130507	genome.wustl.edu	37	2	170885882	170885882	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:170885882C>T	ENST00000272793.5	+	31	4530	c.4480C>T	c.(4480-4482)Cac>Tac	p.H1494Y	UBR3_ENST00000418381.1_Missense_Mutation_p.H1494Y|UBR3_ENST00000392631.1_Missense_Mutation_p.H315Y|UBR3_ENST00000465630.1_3'UTR			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1494					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTAGCCTTGCACATGCGGCT	0.338																																						dbGAP											0													86.0	83.0	84.0					2																	170885882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4480C>T	2.37:g.170885882C>T	ENSP00000272793:p.His1494Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.H1494Y	ENST00000272793.5	37	c.4480		2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520542	0.85495	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.71036	2.16	0.48452	D	0.999652	D;D;P	0.67145	0.981;0.996;0.851	D;D;P	0.78314	0.932;0.991;0.838	T	0.63202	-0.6690	10	0.22706	T	0.39	.	16.4371	0.83880	0.0:1.0:0.0:0.0	.	1494;315;1523	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	Y	1494;1523;1494;315;194	ENSP00000272793:H1494Y;ENSP00000396068:H1494Y;ENSP00000376408:H315Y;ENSP00000389097:H194Y	ENSP00000272793:H1494Y	H	+	1	0	UBR3	170594128	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.708000	0.74660	2.206000	0.71126	0.563000	0.77884	CAC	UBR3	-	NULL	ENSG00000144357		0.338	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	216	0.46	1	C	NM_172070		170885882	170885882	+1	no_errors	ENST00000272793	ensembl	human	known	69_37n	missense	182	34.77	97	SNP	1.000	T
UBTF	7343	genome.wustl.edu	37	17	42285118	42285118	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:42285118C>A	ENST00000302904.4	-	19	2466	c.1974G>T	c.(1972-1974)aaG>aaT	p.K658N	UBTF_ENST00000527034.1_Missense_Mutation_p.K621N|UBTF_ENST00000343638.5_Missense_Mutation_p.K621N|UBTF_ENST00000436088.1_Missense_Mutation_p.K658N|UBTF_ENST00000529383.1_Missense_Mutation_p.K658N|UBTF_ENST00000533177.1_Missense_Mutation_p.K621N|UBTF_ENST00000526094.1_Missense_Mutation_p.K621N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.K621N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	658					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCCTCGCAGCTTGGTCATGC	0.622																																						dbGAP											0													97.0	86.0	89.0					17																	42285118		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1974G>T	17.37:g.42285118C>A	ENSP00000302640:p.Lys658Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6R8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K658N	ENST00000302904.4	37	c.1974	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534299	0.64972	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	D;D;D;D;D;D;D;D	0.98926	-5.15;-4.33;-5.24;-5.15;-4.33;-5.15;-5.15;-4.33	5.05	5.05	0.67936	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.057135	0.64402	D	0.000004	D	0.98595	0.9530	L	0.58101	1.795	0.43444	D	0.995626	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.993	D	0.98072	1.0399	10	0.49607	T	0.09	-29.4558	11.6661	0.51374	0.0:0.9181:0.0:0.0819	.	621;658	P17480-2;P17480	.;UBF1_HUMAN	N	621;658;621;621;658;621;621;658	ENSP00000345297:K621N;ENSP00000302640:K658N;ENSP00000431539:K621N;ENSP00000437180:K621N;ENSP00000390669:K658N;ENSP00000377231:K621N;ENSP00000432925:K621N;ENSP00000435708:K658N	ENSP00000302640:K658N	K	-	3	2	UBTF	39640644	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.256000	0.32921	2.639000	0.89480	0.491000	0.48974	AAG	UBTF	-	superfamily_HMG_superfamily,superfamily_ARM-type_fold	ENSG00000108312		0.622	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	181	0.00	0	C	NM_014233		42285118	42285118	-1	no_errors	ENST00000302904	ensembl	human	known	69_37n	missense	51	53.57	60	SNP	1.000	A
UBXN2A	165324	genome.wustl.edu	37	2	24199863	24199863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:24199863delA	ENST00000309033.4	+	4	449	c.205delA	c.(205-207)aaafs	p.K69fs	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Frame_Shift_Del_p.K69fs|UBXN2A_ENST00000535786.1_Frame_Shift_Del_p.K69fs	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	69	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AAAATTATGGAAAAACGGATT	0.378																																						dbGAP											0													75.0	75.0	75.0					2																	24199863		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.205delA	2.37:g.24199863delA	ENSP00000312107:p.Lys69fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K577|B7ZKP8|Q569G8	Frame_Shift_Del	DEL	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.N70fs	ENST00000309033.4	37	c.205	CCDS1704.1	2																																																																																			UBXN2A	-	pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain	ENSG00000173960		0.378	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2A	HGNC	protein_coding	OTTHUMT00000246824.2	237	0.00	0	A	NM_181713		24199863	24199863	+1	no_errors	ENST00000309033	ensembl	human	known	69_37n	frame_shift_del	142	33.18	73	DEL	1.000	-
UGT1A6	54578	genome.wustl.edu	37	2	234681079	234681079	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:234681079T>C	ENST00000305139.6	+	5	1612	c.1473T>C	c.(1471-1473)atT>atC	p.I491I	UGT1A1_ENST00000608383.1_Silent_p.I492I|UGT1A1_ENST00000609767.1_Silent_p.I493I|UGT1A8_ENST00000305208.5_Silent_p.I492I|UGT1A6_ENST00000373424.1_Silent_p.I224I|UGT1A5_ENST00000373414.3_Silent_p.I493I|UGT1A1_ENST00000373450.4_Silent_p.I489I|UGT1A1_ENST00000609637.1_Silent_p.I489I|UGT1A10_ENST00000344644.5_Silent_p.I489I|UGT1A4_ENST00000373409.3_Silent_p.I493I|UGT1A3_ENST00000482026.1_Silent_p.I493I|UGT1A9_ENST00000354728.4_Silent_p.I489I|UGT1A7_ENST00000373426.3_Silent_p.I489I|UGT1A1_ENST00000608381.1_Silent_p.I493I	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	491					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TGGACGTGATTGGTTTCCTCT	0.547																																						dbGAP											0													181.0	146.0	158.0					2																	234681079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1473T>C	2.37:g.234681079T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.I493	ENST00000305139.6	37	c.1479	CCDS2507.1	2																																																																																			UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.547	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130988.1	413	0.00	0	T	NM_205862		234681079	234681079	+1	no_errors	ENST00000373409	ensembl	human	known	69_37n	silent	250	37.47	151	SNP	0.016	C
UGT2B7	7364	genome.wustl.edu	37	4	69962480	69962480	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:69962480T>C	ENST00000508661.1	+	1	269	c.242T>C	c.(241-243)tTa>tCa	p.L81S	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.L81S			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	81					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCACATCTTTAACTAAAACT	0.368																																						dbGAP											0													59.0	63.0	62.0					4																	69962480		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.242T>C	4.37:g.69962480T>C	ENSP00000427659:p.Leu81Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R810|Q6GTW0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L81S	ENST00000508661.1	37	c.242		4	.	.	.	.	.	.	.	.	.	.	T	10.61	1.397392	0.25205	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.61158	0.13;0.13	2.54	-4.02	0.04034	.	1.255970	0.06113	U	0.667586	T	0.54255	0.1847	L	0.58302	1.8	0.09310	N	1	B;B	0.24576	0.106;0.056	B;B	0.39152	0.292;0.035	T	0.54728	-0.8250	9	.	.	.	.	4.6161	0.12427	0.0:0.3656:0.1721:0.4623	.	81;81	E9PBP8;P16662	.;UD2B7_HUMAN	S	81	ENSP00000304811:L81S;ENSP00000427659:L81S	.	L	+	2	0	UGT2B7	69997069	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.832000	0.27490	-0.691000	0.05135	0.260000	0.18958	TTA	UGT2B7	-	pfam_UDP_glucos_trans	ENSG00000171234		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	UGT2B7	HGNC	protein_coding	OTTHUMT00000362103.1	174	0.00	0	T	NM_001074		69962480	69962480	+1	no_errors	ENST00000305231	ensembl	human	known	69_37n	missense	109	39.78	72	SNP	0.000	C
UNK	85451	genome.wustl.edu	37	17	73814802	73814802	+	Frame_Shift_Del	DEL	C	C	-	rs370096297		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:73814802delC	ENST00000589666.1	+	11	1561	c.1451delC	c.(1450-1452)accfs	p.T484fs	UNK_ENST00000293218.3_Frame_Shift_Del_p.T560fs|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	484							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGCAGCTACCCCCCCTAGC	0.612																																						dbGAP											0													62.0	68.0	66.0					17																	73814802		2057	4190	6247	-	-	-	SO:0001589	frameshift_variant	0			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1451delC	17.37:g.73814802delC	ENSP00000464893:p.Thr484fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Znf_CCCH,smart_Znf_CCCH	p.P562fs	ENST00000589666.1	37	c.1679	CCDS45778.2	17																																																																																			UNK	-	NULL	ENSG00000132478		0.612	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	205	0.00	0	C	NM_001080419		73814802	73814802	+1	no_errors	ENST00000293218	ensembl	human	known	69_37n	frame_shift_del	337	15.52	63	DEL	1.000	-
UPP1	7378	genome.wustl.edu	37	7	48142985	48142985	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:48142985G>A	ENST00000331803.4	+	7	1036	c.413G>A	c.(412-414)cGc>cAc	p.R138H	UPP1_ENST00000395564.4_Missense_Mutation_p.R138H|UPP1_ENST00000341253.4_Missense_Mutation_p.R138H|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	138					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	ACTATCATCCGCATTGGCACT	0.527																																						dbGAP											0													168.0	142.0	151.0					7																	48142985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.413G>A	7.37:g.48142985G>A	ENSP00000330032:p.Arg138His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVM4|Q15362	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.R138H	ENST00000331803.4	37	c.413	CCDS5507.1	7	.	.	.	.	.	.	.	.	.	.	G	31	5.094175	0.94149	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	5.43	4.54	0.55810	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.959;1.0	D	0.96439	0.9325	10	0.87932	D	0	-33.3956	13.6915	0.62549	0.0759:0.0:0.9241:0.0	.	138;138	B4DND0;Q16831	.;UPP1_HUMAN	H	138	ENSP00000405209:R138H;ENSP00000330032:R138H;ENSP00000342878:R138H;ENSP00000378931:R138H;ENSP00000390118:R138H	ENSP00000330032:R138H	R	+	2	0	UPP1	48109510	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.811000	0.86092	2.532000	0.85374	0.563000	0.77884	CGC	UPP1	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000183696		0.527	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP1	HGNC	protein_coding	OTTHUMT00000251360.1	330	0.30	1	G	NM_003364		48142985	48142985	+1	no_errors	ENST00000331803	ensembl	human	known	69_37n	missense	222	35.84	124	SNP	1.000	A
UPK3B	80761	genome.wustl.edu	37	7	76144472	76144472	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:76144472C>T	ENST00000257632.5	+	4	995	c.867C>T	c.(865-867)gcC>gcT	p.A289A	UPK3B_ENST00000443097.2_Missense_Mutation_p.P261L|UPK3B_ENST00000334348.3_Missense_Mutation_p.P261L|UPK3B_ENST00000419923.2_Silent_p.A289A|UPK3B_ENST00000394849.1_Silent_p.A234A|UPK3B_ENST00000448265.3_Silent_p.A289A			Q9BT76	UPK3B_HUMAN	uroplakin 3B	289					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCCACACTGCCGGTGGGCTGC	0.697																																						dbGAP											0													18.0	19.0	18.0					7																	76144472		2201	4289	6490	-	-	-	SO:0001819	synonymous_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.867C>T	7.37:g.76144472C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	NULL	p.P261L	ENST00000257632.5	37	c.782	CCDS5588.1	7	.	.	.	.	.	.	.	.	.	.	.	14.63	2.592908	0.46214	.	.	ENSG00000243566	ENST00000334348;ENST00000443097	T;T	0.62364	0.03;0.03	4.08	4.08	0.47627	.	.	.	.	.	T	0.78329	0.4266	.	.	.	0.45791	D	0.998679	D	0.89917	1.0	D	0.87578	0.998	T	0.81640	-0.0841	8	0.87932	D	0	-12.6869	13.9332	0.64010	0.0:1.0:0.0:0.0	.	261	A6NHH5	.	L	261	ENSP00000334938:P261L;ENSP00000444585:P261L	ENSP00000334938:P261L	P	+	2	0	UPK3B	75982408	0.970000	0.33590	0.548000	0.28192	0.022000	0.10575	3.725000	0.54970	2.293000	0.77203	0.556000	0.70494	CCG	UPK3B	-	NULL	ENSG00000243566		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	UPK3B	HGNC	protein_coding	OTTHUMT00000313978.2	19	0.00	0	C	NM_030570		76144472	76144472	+1	no_errors	ENST00000334348	ensembl	human	known	69_37n	missense	19	32.14	9	SNP	0.968	T
USH1C	10083	genome.wustl.edu	37	11	17515664	17515665	+	3'UTR	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:17515664_17515665insA	ENST00000318024.4	-	0	2013_2014				USH1C_ENST00000527020.1_3'UTR|USH1C_ENST00000527720.1_3'UTR|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GATCTTCTCCCAAATGGCTGGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.*247->T	11.37:g.17515667_17515667dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	RNA	INS	-	NULL	ENST00000318024.4	37	NULL	CCDS31438.1	11																																																																																			USH1C	-	-	ENSG00000006611		0.535	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	39	0.00	0	-	NM_005709		17515664	17515665	-1	no_errors	ENST00000529563	ensembl	human	known	69_37n	rna	16	33.33	8	INS	0.000:0.000	A
USP20	10868	genome.wustl.edu	37	9	132637681	132637681	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:132637681G>A	ENST00000315480.4	+	20	2299	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	USP20_ENST00000372429.3_Missense_Mutation_p.R714H|USP20_ENST00000358355.1_Missense_Mutation_p.R714H			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	714	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TACGTGTCCCGCGAGTGGCTC	0.672																																						dbGAP											0													40.0	49.0	46.0					9																	132637681		2068	4200	6268	-	-	-	SO:0001583	missense	0			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2141G>A	9.37:g.132637681G>A	ENSP00000313811:p.Arg714His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R714H	ENST00000315480.4	37	c.2141	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.450596	0.96205	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.19394	2.15;2.15;2.15	5.33	5.33	0.75918	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.122641	0.53938	D	0.000044	T	0.51805	0.1696	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.57974	-0.7718	10	0.87932	D	0	.	18.0074	0.89213	0.0:0.0:1.0:0.0	.	714	Q9Y2K6	UBP20_HUMAN	H	714	ENSP00000361506:R714H;ENSP00000313811:R714H;ENSP00000351122:R714H	ENSP00000313811:R714H	R	+	2	0	USP20	131677502	1.000000	0.71417	0.952000	0.39060	0.983000	0.72400	9.470000	0.97683	2.495000	0.84180	0.561000	0.74099	CGC	USP20	-	smart_Pept_C19_DUSP	ENSG00000136878		0.672	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	79	0.00	0	G			132637681	132637681	+1	no_errors	ENST00000315480	ensembl	human	known	69_37n	missense	48	32.39	23	SNP	1.000	A
USP32	84669	genome.wustl.edu	37	17	58258723	58258723	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:58258723T>C	ENST00000300896.4	-	32	4704	c.4510A>G	c.(4510-4512)Act>Gct	p.T1504A	USP32_ENST00000592339.1_Missense_Mutation_p.T1174A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1504	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTAATACGAGTATCTTCTCTT	0.388																																						dbGAP											0													122.0	115.0	117.0					17																	58258723		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4510A>G	17.37:g.58258723T>C	ENSP00000300896:p.Thr1504Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.T1504A	ENST00000300896.4	37	c.4510	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	T	11.02	1.516908	0.27123	.	.	ENSG00000170832	ENST00000300896	T	0.42131	0.98	5.37	-3.11	0.05299	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.712604	0.15345	N	0.267277	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.33033	-0.9884	10	0.08381	T	0.77	.	8.0283	0.30451	0.0:0.5165:0.1335:0.35	.	1504	Q8NFA0	UBP32_HUMAN	A	1504	ENSP00000300896:T1504A	ENSP00000300896:T1504A	T	-	1	0	USP32	55613505	0.000000	0.05858	0.036000	0.18154	0.974000	0.67602	-0.356000	0.07661	-0.412000	0.07519	0.454000	0.30748	ACT	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170832		0.388	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	366	0.00	0	T	NM_032582		58258723	58258723	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	649	16.22	126	SNP	0.010	C
USP32	84669	genome.wustl.edu	37	17	58258980	58258980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:58258980delT	ENST00000300896.4	-	32	4447	c.4253delA	c.(4252-4254)aatfs	p.N1418fs	USP32_ENST00000592339.1_Frame_Shift_Del_p.N1088fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1418	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGACAGTTTATTTTTGCTGCC	0.542																																						dbGAP											0													29.0	29.0	29.0					17																	58258980		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4253delA	17.37:g.58258980delT	ENSP00000300896:p.Asn1418fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.N1418fs	ENST00000300896.4	37	c.4253	CCDS32697.1	17																																																																																			USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170832		0.542	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	148	0.00	0	T	NM_032582		58258980	58258980	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	frame_shift_del	263	17.90	58	DEL	1.000	-
USP32	84669	genome.wustl.edu	37	17	58286768	58286768	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:58286768T>C	ENST00000300896.4	-	22	2755	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	USP32_ENST00000592339.1_Missense_Mutation_p.D524G	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	854	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCCATCACTGTCCTTCAGTTC	0.428																																						dbGAP											0													43.0	41.0	42.0					17																	58286768		2202	4281	6483	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2561A>G	17.37:g.58286768T>C	ENSP00000300896:p.Asp854Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.D854G	ENST00000300896.4	37	c.2561	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658358	0.88154	.	.	ENSG00000170832	ENST00000300896	T	0.30448	1.53	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.79011	2.435	0.80722	D	1	P	0.51351	0.944	P	0.59948	0.866	T	0.60105	-0.7328	10	0.87932	D	0	.	15.5463	0.76104	0.0:0.0:0.0:1.0	.	854	Q8NFA0	UBP32_HUMAN	G	854	ENSP00000300896:D854G	ENSP00000300896:D854G	D	-	2	0	USP32	55641550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.079000	0.62486	0.533000	0.62120	GAC	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000170832		0.428	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	209	0.48	1	T	NM_032582		58286768	58286768	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	455	19.72	112	SNP	1.000	C
USP34	9736	genome.wustl.edu	37	2	61431727	61431727	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:61431727T>C	ENST00000398571.2	-	73	9240	c.9164A>G	c.(9163-9165)aAg>aGg	p.K3055R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3055					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TACAAGTTCCTTGAGGACATC	0.358																																						dbGAP											0													162.0	161.0	161.0					2																	61431727		1838	4078	5916	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9164A>G	2.37:g.61431727T>C	ENSP00000381577:p.Lys3055Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.K3055R	ENST00000398571.2	37	c.9164	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	T	14.96	2.692373	0.48202	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.65178	-0.14	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	L	0.43923	1.385	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.74343	-0.3696	10	0.66056	D	0.02	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	3055	Q70CQ2	UBP34_HUMAN	R	2903;2820;3055	ENSP00000381577:K3055R	ENSP00000263989:K2903R	K	-	2	0	USP34	61285231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.846000	0.86887	2.367000	0.80283	0.528000	0.53228	AAG	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	296	0.00	0	T			61431727	61431727	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	242	34.95	130	SNP	1.000	C
USP35	57558	genome.wustl.edu	37	11	77920856	77920856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:77920856delC	ENST00000529308.1	+	10	2216	c.1955delC	c.(1954-1956)accfs	p.T652fs	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Frame_Shift_Del_p.T383fs|USP35_ENST00000441408.2_Frame_Shift_Del_p.T238fs|USP35_ENST00000530267.1_Frame_Shift_Del_p.T220fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	652	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACAGAGGACACCCCCCCCACC	0.612																																						dbGAP											0										36,30,3568		2,0,32,2,26,1755	42.0	53.0	50.0			0.7	0.0	11		51	50,152,7638		3,0,44,30,92,3751	no	codingComplex	USP35	NM_020798.2		5,0,76,32,118,5506	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5765,1.8162,2.3357			77920856	86,182,11206	1917	4120	6037	-	-	-	SO:0001589	frameshift_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1955delC	11.37:g.77920856delC	ENSP00000431876:p.Thr652fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.T655fs	ENST00000529308.1	37	c.1955	CCDS41693.1	11																																																																																			USP35	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000118369		0.612	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	204	0.48	1	C	XM_290527		77920856	77920856	+1	no_errors	ENST00000529308	ensembl	human	known	69_37n	frame_shift_del	178	34.75	98	DEL	0.000	-
USP43	124739	genome.wustl.edu	37	17	9604499	9604499	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:9604499G>C	ENST00000285199.7	+	11	1695	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	USP43_ENST00000570475.1_Missense_Mutation_p.Q533H|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	533	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCAGCAGCAGGCGCATCAGC	0.637																																						dbGAP											0													15.0	21.0	19.0					17																	9604499		2164	4265	6429	-	-	-	SO:0001583	missense	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1599G>C	17.37:g.9604499G>C	ENSP00000285199:p.Gln533His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q533H	ENST00000285199.7	37	c.1599	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467598	0.63625	.	.	ENSG00000154914	ENST00000285199	T	0.10573	2.86	4.98	4.0	0.46444	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.144847	0.45361	D	0.000375	T	0.34308	0.0893	M	0.84683	2.71	0.43622	D	0.996	D;D;P	0.89917	1.0;1.0;0.541	D;D;P	0.91635	0.999;0.998;0.463	T	0.10776	-1.0615	10	0.44086	T	0.13	-6.8899	11.4956	0.50406	0.0896:0.0:0.9104:0.0	.	533;222;533	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	H	533	ENSP00000285199:Q533H	ENSP00000285199:Q533H	Q	+	3	2	USP43	9545224	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.937000	0.40193	1.072000	0.40860	0.563000	0.77884	CAG	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000154914		0.637	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	39	0.00	0	G	NM_153210		9604499	9604499	+1	no_errors	ENST00000285199	ensembl	human	known	69_37n	missense	23	53.06	26	SNP	1.000	C
USP36	57602	genome.wustl.edu	37	17	76798528	76798528	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:76798528C>T	ENST00000542802.3	-	17	3343	c.2900G>A	c.(2899-2901)cGg>cAg	p.R967Q	USP36_ENST00000312010.6_Missense_Mutation_p.R967Q|USP36_ENST00000449938.2_Missense_Mutation_p.R572Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	965					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCTACTGCCCGCTGTGTCTC	0.542																																						dbGAP											0													87.0	63.0	71.0					17																	76798528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2900G>A	17.37:g.76798528C>T	ENSP00000441214:p.Arg967Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R967Q	ENST00000542802.3	37	c.2900	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	c	0.030	-1.339676	0.01277	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.16196	3.39;2.36;3.39	4.83	2.48	0.30137	.	1.370670	0.04794	N	0.432203	T	0.03739	0.0106	N	0.00138	-2.015	0.20403	N	0.999908	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.37776	-0.9691	10	0.07030	T	0.85	-9.6878	7.5612	0.27853	0.0:0.185:0.0:0.815	.	965;967;572	Q9P275;Q9P275-2;E9PEW0	UBP36_HUMAN;.;.	Q	967;572;967	ENSP00000310590:R967Q;ENSP00000401119:R572Q;ENSP00000441214:R967Q	ENSP00000310590:R967Q	R	-	2	0	USP36	74310123	0.891000	0.30450	0.758000	0.31321	0.025000	0.11179	0.199000	0.17237	0.217000	0.20800	-0.452000	0.05504	CGG	USP36	-	NULL	ENSG00000055483		0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	64	0.00	0	C	NM_025090		76798528	76798528	-1	no_errors	ENST00000312010	ensembl	human	known	69_37n	missense	125	13.19	19	SNP	0.996	T
USP45	85015	genome.wustl.edu	37	6	99885238	99885238	+	Missense_Mutation	SNP	T	T	C	rs201236782	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:99885238T>C	ENST00000327681.6	-	17	2730	c.2198A>G	c.(2197-2199)tAt>tGt	p.Y733C	USP45_ENST00000500704.2_Missense_Mutation_p.Y733C|USP45_ENST00000392738.2_Missense_Mutation_p.Y413C|USP45_ENST00000539675.1_Missense_Mutation_p.Y26C|USP45_ENST00000369233.2_Missense_Mutation_p.Y685C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	733	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CACTATGCCATAGAGACCGTA	0.363													T|||	2	0.000399361	0.0	0.0	5008	,	,		18160	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													119.0	106.0	111.0					6																	99885238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2198A>G	6.37:g.99885238T>C	ENSP00000333376:p.Tyr733Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.Y733C	ENST00000327681.6	37	c.2198	CCDS34501.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	16.98	3.270964	0.59540	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.33438	1.41;4.01;4.01;1.41;1.41	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.48021	0.1477	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.53528	-0.8426	10	0.87932	D	0	.	15.8581	0.79000	0.0:0.0:0.0:1.0	.	733;413	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	C	413;733;733;26;685	ENSP00000376495:Y413C;ENSP00000424372:Y733C;ENSP00000333376:Y733C;ENSP00000439569:Y26C;ENSP00000358236:Y685C	ENSP00000333376:Y733C	Y	-	2	0	USP45	99991959	1.000000	0.71417	0.994000	0.49952	0.078000	0.17371	7.535000	0.82014	2.149000	0.67028	0.482000	0.46254	TAT	USP45	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000123552		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP45	HGNC	protein_coding	OTTHUMT00000041609.2	352	0.00	0	T	NM_032929		99885238	99885238	-1	no_errors	ENST00000327681	ensembl	human	known	69_37n	missense	266	40.36	180	SNP	1.000	C
USP9X	8239	genome.wustl.edu	37	X	41055854	41055855	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:41055854_41055855delAG	ENST00000324545.8	+	28	4729_4730	c.4096_4097delAG	c.(4096-4098)agafs	p.R1366fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.R1366fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1366					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAGCACAGCAAGAGAGAGAGCT	0.356																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4096_4097delAG	X.37:g.41055862_41055863delAG	ENSP00000316357:p.Arg1366fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.R1368fs	ENST00000324545.8	37	c.4096_4097	CCDS43930.1	X																																																																																			USP9X	-	NULL	ENSG00000124486		0.356	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	177	0.00	0	AG	NM_004652		41055854	41055855	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	frame_shift_del	98	40.36	67	DEL	0.999:1.000	-
UTS2R	2837	genome.wustl.edu	37	17	80332445	80332445	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:80332445C>T	ENST00000313135.2	+	1	293	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	82					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TCCCTGCGTGCGGTGGCCTCC	0.662																																						dbGAP											0													43.0	30.0	35.0					17																	80332445		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.245C>T	17.37:g.80332445C>T	ENSP00000323516:p.Ala82Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMV8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Urot_II_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.A82V	ENST00000313135.2	37	c.245	CCDS11810.1	17	.	.	.	.	.	.	.	.	.	.	C	1.007	-0.689111	0.03328	.	.	ENSG00000181408	ENST00000313135	T	0.36699	1.24	4.83	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.686043	0.13905	N	0.354665	T	0.26340	0.0643	L	0.39245	1.2	0.09310	N	1	B	0.30021	0.265	B	0.20767	0.031	T	0.12760	-1.0535	10	0.48119	T	0.1	.	8.3391	0.32232	0.0:0.6234:0.2962:0.0804	.	82	Q9UKP6	UR2R_HUMAN	V	82	ENSP00000323516:A82V	ENSP00000323516:A82V	A	+	2	0	UTS2R	77925734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.104000	0.10923	0.543000	0.28864	-0.878000	0.02970	GCG	UTS2R	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181408		0.662	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2R	HGNC	protein_coding	OTTHUMT00000443506.1	32	0.00	0	C	NM_018949		80332445	80332445	+1	no_errors	ENST00000313135	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	0.000	T
VAC14	55697	genome.wustl.edu	37	16	70722098	70722098	+	Intron	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:70722098G>A	ENST00000261776.5	-	19	2447				MTSS1L_ENST00000338779.6_5'Flank|VAC14_ENST00000571759.1_5'UTR|VAC14_ENST00000536184.2_Intron	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGTGGGCTCGGCCTGTGGGC	0.642																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.2187-105C>T	16.37:g.70722098G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	RNA	SNP	-	NULL	ENST00000261776.5	37	NULL	CCDS10896.1	16																																																																																			VAC14	-	-	ENSG00000103043		0.642	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	86	0.00	0	G	NM_018052		70722098	70722098	-1	no_errors	ENST00000571759	ensembl	human	known	69_37n	rna	58	39.58	38	SNP	0.000	A
VASH1	22846	genome.wustl.edu	37	14	77242496	77242496	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:77242496A>G	ENST00000167106.4	+	5	1425	c.792A>G	c.(790-792)tcA>tcG	p.S264S	VASH1_ENST00000554743.1_5'Flank|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	264					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGAGCGTGTCACACGACCCGC	0.677																																						dbGAP											0													30.0	32.0	32.0					14																	77242496		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.792A>G	14.37:g.77242496A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H02|Q9UBF4|Q9Y629	Silent	SNP	NULL	p.S264	ENST00000167106.4	37	c.792	CCDS9851.1	14																																																																																			VASH1	-	NULL	ENSG00000071246		0.677	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	17	0.00	0	A	NM_014909		77242496	77242496	+1	no_errors	ENST00000167106	ensembl	human	known	69_37n	silent	11	45.00	9	SNP	1.000	G
VASN	114990	genome.wustl.edu	37	16	4430999	4430999	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:4430999C>T	ENST00000304735.3	+	2	276	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	41	LRRNT.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						CTGCACTGCCCGCCAGGGGAC	0.687																																						dbGAP											0													15.0	13.0	14.0					16																	4430999		2183	4283	6466	-	-	-	SO:0001583	missense	0			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.121C>T	16.37:g.4430999C>T	ENSP00000306864:p.Arg41Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R41C	ENST00000304735.3	37	c.121	CCDS10514.1	16	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204927	0.58234	.	.	ENSG00000168140	ENST00000304735	D	0.97303	-4.33	5.61	5.61	0.85477	Leucine-rich repeat-containing N-terminal (2);	0.055725	0.64402	D	0.000002	D	0.98764	0.9584	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99418	1.0932	10	0.87932	D	0	-26.3603	14.0112	0.64498	0.1518:0.8482:0.0:0.0	.	41	Q6EMK4	VASN_HUMAN	C	41	ENSP00000306864:R41C	ENSP00000306864:R41C	R	+	1	0	VASN	4371000	0.511000	0.26179	1.000000	0.80357	0.941000	0.58515	0.928000	0.28831	2.649000	0.89929	0.650000	0.86243	CGC	VASN	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000168140		0.687	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	HGNC	protein_coding	OTTHUMT00000251632.1	12	0.00	0	C	NM_138440		4430999	4430999	+1	no_errors	ENST00000304735	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.997	T
VAX1	11023	genome.wustl.edu	37	10	118891730	118891730	+	IGR	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:118891730T>A	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Missense_Mutation_p.Q184L	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CTATAGGGGCTGCCACCCTCT	0.552																																						dbGAP											0													44.0	54.0	51.0					10																	118891730		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891730T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.Q184L	ENST00000369206.5	37	c.551	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274432	0.40194	.	.	ENSG00000148704	ENST00000277905	D	0.86164	-2.08	4.41	-8.11	0.01082	.	.	.	.	.	T	0.73458	0.3589	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58470	-0.7631	8	0.59425	D	0.04	.	2.2685	0.04085	0.2546:0.4151:0.1294:0.2009	.	184	Q5SQQ9-2	.	L	184	ENSP00000277905:Q184L	ENSP00000277905:Q184L	Q	-	2	0	VAX1	118881720	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.177000	0.03096	-1.807000	0.01236	-0.912000	0.02778	CAG	VAX1	-	NULL	ENSG00000148704		0.552	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	105	0.00	0	T	XM_301242		118891730	118891730	-1	no_errors	ENST00000277905	ensembl	human	known	69_37n	missense	63	35.05	34	SNP	0.000	A
VEZF1	7716	genome.wustl.edu	37	17	56056610	56056610	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:56056610C>T	ENST00000581208.1	-	5	1081	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	VEZF1_ENST00000584396.1_Silent_p.Q338Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	347	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgctgctgctgctgct	0.463																																						dbGAP											0													131.0	125.0	127.0					17																	56056610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1041G>A	17.37:g.56056610C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S166N	ENST00000581208.1	37	c.497	CCDS32687.1	17																																																																																			VEZF1	-	NULL	ENSG00000136451		0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1	226	0.44	1	C			56056610	56056610	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000258963	ensembl	human	novel	69_37n	missense	403	19.16	96	SNP	0.996	T
VPS11	55823	genome.wustl.edu	37	11	118942364	118942364	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:118942364G>A	ENST00000300793.6	+	6	734	c.692G>A	c.(691-693)gGc>gAc	p.G231D	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	232					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CATGGTTGTGGCCTGCGCTGC	0.547																																						dbGAP											0													108.0	109.0	109.0					11																	118942364		2057	4189	6246	-	-	-	SO:0001583	missense	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.692G>A	11.37:g.118942364G>A	ENSP00000475301:p.Gly231Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	RNA	SNP	-	NULL	ENST00000300793.6	37	NULL		11																																																																																			VPS11	-	-	ENSG00000160695		0.547	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		317	0.00	0	G	NM_021729		118942364	118942364	+1	no_errors	ENST00000300793	ensembl	human	known	69_37n	rna	263	36.84	154	SNP	1.000	A
VPS13A	23230	genome.wustl.edu	37	9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:79984308delT	ENST00000360280.3	+	63	8907	c.8647delT	c.(8647-8649)tttfs	p.F2884fs	VPS13A_ENST00000376636.3_Frame_Shift_Del_p.F2845fs|VPS13A_ENST00000376634.4_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.F2884fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2884					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGTAGAAGCATTTTTTTATGA	0.303																																						dbGAP											0													142.0	145.0	144.0					9																	79984308		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8647delT	9.37:g.79984308delT	ENSP00000353422:p.Phe2884fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	pfam_VPSAP,pfam_Autophagy-rel_C	p.Y2885fs	ENST00000360280.3	37	c.8647	CCDS6655.1	9																																																																																			VPS13A	-	NULL	ENSG00000197969		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	479	0.00	0	T	NM_015186		79984308	79984308	+1	no_errors	ENST00000360280	ensembl	human	known	69_37n	frame_shift_del	369	30.21	161	DEL	1.000	-
VPS33A	65082	genome.wustl.edu	37	12	122720397	122720397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:122720397delC	ENST00000267199.4	-	11	1488	c.1376delG	c.(1375-1377)ggcfs	p.G459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.G420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		ATTGTTTCTGCCCCCCGTCTG	0.498																																						dbGAP											0													244.0	219.0	227.0					12																	122720397		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1376delG	12.37:g.122720397delC	ENSP00000267199:p.Gly459fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q547V4|Q9H5Q0	Frame_Shift_Del	DEL	pfam_Sec1-like,superfamily_Sec1-like	p.G459fs	ENST00000267199.4	37	c.1376	CCDS9231.1	12																																																																																			VPS33A	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000139719		0.498	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33A	HGNC	protein_coding	OTTHUMT00000401607.2	445	0.00	0	C			122720397	122720397	-1	no_errors	ENST00000267199	ensembl	human	known	69_37n	frame_shift_del	287	33.41	148	DEL	0.996	-
VPS51	738	genome.wustl.edu	37	11	64875384	64875384	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:64875384C>T	ENST00000279281.3	+	4	707	c.615C>T	c.(613-615)cgC>cgT	p.R205R	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	205					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACCAGGGCCGCGCGCAGGCCG	0.697																																						dbGAP											0													16.0	15.0	15.0					11																	64875384		2158	4219	6377	-	-	-	SO:0001819	synonymous_variant	0			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.615C>T	11.37:g.64875384C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Silent	SNP	pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.R205	ENST00000279281.3	37	c.615	CCDS8093.1	11																																																																																			VPS51	-	pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	ENSG00000149823		0.697	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	HGNC	protein_coding	OTTHUMT00000385217.1	11	0.00	0	C	NM_013265		64875384	64875384	+1	no_errors	ENST00000279281	ensembl	human	known	69_37n	silent	12	58.62	17	SNP	0.336	T
VRTN	55237	genome.wustl.edu	37	14	74824463	74824463	+	Frame_Shift_Del	DEL	G	G	-	rs201579420		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:74824463delG	ENST00000256362.4	+	2	1218	c.977delG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTTCCACCGGGGGGGCGTC	0.642																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)											51.0	57.0	55.0					14																	74824463		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.977delG	14.37:g.74824463delG	ENSP00000256362:p.Arg326fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVC7	Frame_Shift_Del	DEL	pfam_Transposase_8	p.G328fs	ENST00000256362.4	37	c.977	CCDS9830.1	14																																																																																			VRTN	-	NULL	ENSG00000133980		0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	22	0.00	0	G	NM_018228		74824463	74824463	+1	no_errors	ENST00000256362	ensembl	human	known	69_37n	frame_shift_del	8	59.26	16	DEL	0.994	-
VWA7	80737	genome.wustl.edu	37	6	31743928	31743928	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:31743928C>T	ENST00000375688.4	-	3	526	c.326G>A	c.(325-327)cGt>cAt	p.R109H	VWA7_ENST00000375686.3_Missense_Mutation_p.R109H|VWA7_ENST00000467576.1_Intron|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.R109H			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	109						extracellular region (GO:0005576)											TGCATTGGCACGAGACACCTC	0.607																																						dbGAP											0													106.0	99.0	102.0					6																	31743928		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.326G>A	6.37:g.31743928C>T	ENSP00000364840:p.Arg109His	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.R109H	ENST00000375688.4	37	c.326	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223849	0.79576	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.14640	2.49;2.49;2.49	5.46	4.59	0.56863	.	0.322273	0.32273	N	0.006331	T	0.12860	0.0312	L	0.44542	1.39	0.31535	N	0.660637	D	0.65815	0.995	P	0.56916	0.809	T	0.02075	-1.1218	10	0.41790	T	0.15	-4.3237	14.1185	0.65172	0.0:0.8484:0.1516:0.0	.	109	Q9Y334	G7C_HUMAN	H	109	ENSP00000364840:R109H;ENSP00000364838:R109H;ENSP00000390554:R109H	ENSP00000364838:R109H	R	-	2	0	C6orf27	31851907	0.732000	0.28121	1.000000	0.80357	0.985000	0.73830	1.293000	0.33353	1.296000	0.44742	-0.172000	0.13284	CGT	VWA7	-	NULL	ENSG00000204396		0.607	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	89	0.00	0	C	NM_025258		31743928	31743928	-1	no_errors	ENST00000375686	ensembl	human	known	69_37n	missense	60	45.45	50	SNP	1.000	T
VWF	7450	genome.wustl.edu	37	12	6143979	6143979	+	Silent	SNP	G	G	T	rs61748482		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:6143979G>T	ENST00000261405.5	-	20	2814	c.2560C>A	c.(2560-2562)Cgg>Agg	p.R854R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	854			R -> Q (in VWD2; Normandy type; dbSNP:rs41276738). {ECO:0000269|PubMed:1832934}.		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)	TTCCACTTCCGGTCCTGACAG	0.577																																						dbGAP											0			GRCh37	CM982032	VWF	M							132.0	105.0	114.0					12																	6143979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2560C>A	12.37:g.6143979G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCE8|Q99806	Silent	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.R854	ENST00000261405.5	37	c.2560	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,smart_VWC_out,smart_VWF_C	ENSG00000110799		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	360	0.00	0	G	NM_000552		6143979	6143979	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	silent	195	39.44	127	SNP	1.000	T
WDPCP	51057	genome.wustl.edu	37	2	63605645	63605645	+	Splice_Site	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:63605645C>T	ENST00000272321.7	-	12	2152		c.e12-1		WDPCP_ENST00000398544.3_Splice_Site|WDPCP_ENST00000409120.1_Splice_Site|WDPCP_ENST00000409562.3_Splice_Site|WDPCP_ENST00000409835.1_Splice_Site|WDPCP_ENST00000409199.1_Splice_Site	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector						auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCAAGCTGTGCTGTGGAATTC	0.393																																						dbGAP											0													105.0	99.0	101.0					2																	63605645		1861	4082	5943	-	-	-	SO:0001630	splice_region_variant	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1625-1G>A	2.37:g.63605645C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53RW4|Q7Z2Z3	Splice_Site	SNP	-	e12-1	ENST00000272321.7	37	c.1625-1	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391433	0.62066	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3193	0.94231	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDPCP	63459149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.615000	0.74201	2.559000	0.86315	0.655000	0.94253	.	WDPCP	-	-	ENSG00000143951		0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	230	0.00	0	C	NM_015910	Intron	63605645	63605645	-1	no_errors	ENST00000272321	ensembl	human	known	69_37n	splice_site	158	40.82	109	SNP	1.000	T
WDR31	114987	genome.wustl.edu	37	9	116083833	116083833	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:116083833C>G	ENST00000374193.4	-	8	842	c.596G>C	c.(595-597)aGa>aCa	p.R199T	WDR31_ENST00000374195.3_Missense_Mutation_p.R74T|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.R198T	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	199										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTATGGTTCTCTGGGGACCCA	0.458																																						dbGAP											0													119.0	116.0	117.0					9																	116083833		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.596G>C	9.37:g.116083833C>G	ENSP00000363308:p.Arg199Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0T9|Q96EG8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R199T	ENST00000374193.4	37	c.596	CCDS35110.1	9	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296356	0.23650	.	.	ENSG00000148225	ENST00000374193;ENST00000374195;ENST00000341761;ENST00000465979	T;T;T;T	0.80480	0.28;0.28;0.28;-1.38	5.69	2.88	0.33553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.428415	0.25566	N	0.029786	T	0.61800	0.2376	N	0.04787	-0.16	0.18873	N	0.999989	B;B	0.24317	0.101;0.082	B;B	0.25506	0.061;0.036	T	0.56117	-0.8032	10	0.66056	D	0.02	-1.9347	10.0072	0.41964	0.0:0.784:0.0:0.216	.	199;198	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	T	199;74;198;131	ENSP00000363308:R199T;ENSP00000363310:R74T;ENSP00000345027:R198T;ENSP00000419246:R131T	ENSP00000345027:R198T	R	-	2	0	WDR31	115123654	0.008000	0.16893	0.631000	0.29282	0.991000	0.79684	1.052000	0.30429	0.355000	0.24131	0.655000	0.94253	AGA	WDR31	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000148225		0.458	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	423	0.00	0	C	NM_145241		116083833	116083833	-1	no_errors	ENST00000374193	ensembl	human	known	69_37n	missense	277	41.01	194	SNP	0.616	G
WDR45	11152	genome.wustl.edu	37	X	48933619	48933620	+	Intron	INS	-	-	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:48933619_48933620insG	ENST00000376372.3	-	7	618				WDR45_ENST00000376368.2_Intron|WDR45_ENST00000356463.3_Intron|WDR45_ENST00000465431.1_5'Flank|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000473974.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000396681.4_Intron|WDR45_ENST00000322995.8_Frame_Shift_Ins_p.H152fs|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000553851.1_Intron	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45						autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGTGTGAAGATGGGGGGTGGGG	0.579																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.437-15->C	X.37:g.48933625_48933625dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.H152fs	ENST00000376372.3	37	c.455_454	CCDS35250.1	X																																																																																			WDR45	-	superfamily_WD40_repeat_dom	ENSG00000196998		0.579	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	138	0.00	0	-	NM_007075		48933619	48933620	-1	no_errors	ENST00000322995	ensembl	human	known	69_37n	frame_shift_ins	80	21.57	22	INS	0.008:0.003	G
WDR5	11091	genome.wustl.edu	37	9	137005008	137005010	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr9:137005008_137005010delGGA	ENST00000358625.3	+	2	180_182	c.9_11delGGA	c.(7-12)acggag>acg	p.E5del	WDR5_ENST00000425041.1_In_Frame_Del_p.E5del	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	5					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CCATGGCGACGGAGGAGAAGAAG	0.64																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.9_11delGGA	9.37:g.137005011_137005013delGGA	ENSP00000351446:p.Glu5del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q91VA5|Q9NWX7|Q9UGP9	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E5in_frame_del	ENST00000358625.3	37	c.9_11	CCDS6981.1	9																																																																																			WDR5	-	NULL	ENSG00000196363		0.640	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5	HGNC	protein_coding	OTTHUMT00000254621.1	53	0.00	0	GGA	NM_052821		137005008	137005010	+1	no_errors	ENST00000358625	ensembl	human	known	69_37n	in_frame_del	27	32.50	13	DEL	0.658:1.000:1.000	-
WDR81	124997	genome.wustl.edu	37	17	1636026	1636026	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr17:1636026C>G	ENST00000409644.1	+	6	4390	c.4390C>G	c.(4390-4392)Cag>Gag	p.Q1464E	WDR81_ENST00000545662.1_Missense_Mutation_p.Q95E|WDR81_ENST00000309182.5_Missense_Mutation_p.Q413E|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.Q237E|WDR81_ENST00000446363.1_Missense_Mutation_p.Q103E|WDR81_ENST00000437219.2_Missense_Mutation_p.Q261E	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1464					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTCTGATGGGCAGCAGCGGCC	0.642																																						dbGAP											0													54.0	42.0	46.0					17																	1636026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4390C>G	17.37:g.1636026C>G	ENSP00000386609:p.Gln1464Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1464E	ENST00000409644.1	37	c.4390	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220375	0.39201	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.54675	2.44;2.45;0.56;2.45;0.95;0.73;0.6	5.97	5.97	0.96955	.	0.331643	0.34484	N	0.003939	T	0.41190	0.1148	L	0.42245	1.32	0.27727	N	0.944935	B;B;B;B	0.20261	0.013;0.02;0.043;0.002	B;B;B;B	0.16722	0.006;0.016;0.01;0.004	T	0.30621	-0.9972	10	0.06494	T	0.89	.	12.98	0.58557	0.1715:0.8285:0.0:0.0	.	95;261;591;413	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	E	261;413;103;237;49;1464;215;95	ENSP00000391074:Q261E;ENSP00000312074:Q413E;ENSP00000401560:Q103E;ENSP00000407845:Q237E;ENSP00000395198:Q49E;ENSP00000386609:Q1464E;ENSP00000442726:Q95E	ENSP00000312074:Q413E	Q	+	1	0	WDR81	1582776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.789000	0.38724	2.837000	0.97791	0.655000	0.94253	CAG	WDR81	-	NULL	ENSG00000167716		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	45	0.00	0	C	NM_152348		1636026	1636026	+1	no_errors	ENST00000409644	ensembl	human	known	69_37n	missense	17	57.50	23	SNP	1.000	G
WDTC1	23038	genome.wustl.edu	37	1	27622855	27622855	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:27622855C>T	ENST00000319394.3	+	10	1447	c.912C>T	c.(910-912)taC>taT	p.Y304Y	WDTC1_ENST00000361771.3_Silent_p.Y304Y	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	304					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		AGCGGCCGTACACCTTCCTCT	0.507																																						dbGAP											0													211.0	205.0	207.0					1																	27622855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.912C>T	1.37:g.27622855C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y304	ENST00000319394.3	37	c.912		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.507	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		622	0.00	0	C	NM_015023		27622855	27622855	+1	no_errors	ENST00000319394	ensembl	human	known	69_37n	silent	379	40.41	259	SNP	0.999	T
WDTC1	23038	genome.wustl.edu	37	1	27632974	27632974	+	3'UTR	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:27632974delT	ENST00000319394.3	+	0	2669				WDTC1_ENST00000361771.3_3'UTR	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1						cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCACCACCCTTTTTTTTCAT	0.557																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.*100T>-	1.37:g.27632974delT		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	RNA	DEL	-	NULL	ENST00000319394.3	37	NULL		1																																																																																			WDTC1	-	-	ENSG00000142784		0.557	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		22	0.00	0	T	NM_015023		27632974	27632974	+1	no_errors	ENST00000491239	ensembl	human	known	69_37n	rna	11	38.89	7	DEL	0.000	-
WHSC1	7468	genome.wustl.edu	37	4	1906107	1906107	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:1906107T>C	ENST00000382895.3	+	5	1191		c.e5+2		WHSC1_ENST00000420906.2_Splice_Site|WHSC1_ENST00000436793.1_Splice_Site|WHSC1_ENST00000503128.1_Splice_Site|WHSC1_ENST00000508803.1_Splice_Site|WHSC1_ENST00000514045.1_Splice_Site|WHSC1_ENST00000382892.2_Splice_Site|WHSC1_ENST00000382891.5_Splice_Site|WHSC1_ENST00000398261.1_Splice_Site	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1						anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AACTTAAAGGTATTGTGTTCT	0.433			T	IGH@	MM																																	dbGAP		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													168.0	153.0	158.0					4																	1906107		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.760+2T>C	4.37:g.1906107T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Splice_Site	SNP	-	e2+2	ENST00000382895.3	37	c.760+2	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	T	11.11	1.542834	0.27563	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8762	0.79166	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WHSC1	1875905	1.000000	0.71417	0.996000	0.52242	0.008000	0.06430	5.394000	0.66285	2.288000	0.76882	0.533000	0.62120	.	WHSC1	-	-	ENSG00000109685		0.433	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	301	0.00	0	T	NM_133330	Intron	1906107	1906107	+1	no_errors	ENST00000382891	ensembl	human	known	69_37n	splice_site	195	38.49	122	SNP	1.000	C
WIPF1	7456	genome.wustl.edu	37	2	175437136	175437137	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:175437136_175437137insAT	ENST00000392547.2	-	5	495_496	c.396_397insAT	c.(394-399)ggaggafs	p.G133fs	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000359761.3_Frame_Shift_Ins_p.G133fs|WIPF1_ENST00000392546.2_Frame_Shift_Ins_p.G133fs|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Frame_Shift_Ins_p.G133fs|WIPF1_ENST00000409891.1_Frame_Shift_Ins_p.G133fs|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Frame_Shift_Ins_p.G133fs	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	133					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GTGGATCTTCCTCCCGGTGGCA	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.396_397insAT	2.37:g.175437136_175437137insAT	ENSP00000376330:p.Gly133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Frame_Shift_Ins	INS	smart_WH2_dom,pfscan_WH2_dom	p.G132fs	ENST00000392547.2	37	c.397_396	CCDS2260.1	2																																																																																			WIPF1	-	NULL	ENSG00000115935		0.530	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	130	0.00	0	-	NM_003387		175437136	175437137	-1	no_errors	ENST00000272746	ensembl	human	known	69_37n	frame_shift_ins	100	18.70	23	INS	1.000:1.000	AT
WIPF1	7456	genome.wustl.edu	37	2	175437138	175437141	+	Frame_Shift_Del	DEL	CCCG	CCCG	-	rs138492962	byFrequency	TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	CCCG	CCCG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:175437138_175437141delCCCG	ENST00000392547.2	-	5	491_494	c.392_395delCGGG	c.(391-396)ccgggafs	p.PG131fs	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000359761.3_Frame_Shift_Del_p.PG131fs|WIPF1_ENST00000392546.2_Frame_Shift_Del_p.PG131fs|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Frame_Shift_Del_p.PG131fs|WIPF1_ENST00000409891.1_Frame_Shift_Del_p.PG131fs|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Frame_Shift_Del_p.PG131fs	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	131					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.G132R(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGATCTTCCTCCCGGTGGCAACAA	0.529																																						dbGAP											2	Substitution - Missense(2)	lung(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.392_395delCGGG	2.37:g.175437138_175437141delCCCG	ENSP00000376330:p.Pro131fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Frame_Shift_Del	DEL	smart_WH2_dom,pfscan_WH2_dom	p.P131fs	ENST00000392547.2	37	c.395_392	CCDS2260.1	2																																																																																			WIPF1	-	NULL	ENSG00000115935		0.529	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	126	0.00	0	CCCG	NM_003387		175437138	175437141	-1	no_errors	ENST00000272746	ensembl	human	known	69_37n	frame_shift_del	95	19.17	23	DEL	1.000:1.000:0.384:1.000	-
WISP2	8839	genome.wustl.edu	37	20	43343936	43343936	+	5'UTR	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:43343936G>A	ENST00000190983.4	+	0	51				RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372868.2_Intron|WISP2_ENST00000372865.4_5'UTR	NM_003881.2	NP_003872.1	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				gtactcgtgcgtgtgcctgtg	0.587																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000190983.4:c.-96G>A	20.37:g.43343936G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N4|E1P612|Q6PEG3	RNA	SNP	-	NULL	ENST00000190983.4	37	NULL	CCDS13336.1	20																																																																																			WISP2	-	-	ENSG00000064205		0.587	WISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP2	HGNC	protein_coding	OTTHUMT00000080484.2	31	0.00	0	G	NM_003881		43343936	43343936	+1	no_errors	ENST00000497421	ensembl	human	known	69_37n	rna	24	40.00	16	SNP	0.000	A
WISP3	8838	genome.wustl.edu	37	6	112389433	112389434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:112389433_112389434insA	ENST00000368666.2	+	4	901_902	c.615_616insA	c.(616-618)aaafs	p.K206fs	WISP3_ENST00000230529.5_Frame_Shift_Ins_p.K206fs|WISP3_ENST00000604763.1_Frame_Shift_Ins_p.K206fs|WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368663.3_Frame_Shift_Ins_p.K183fs|WISP3_ENST00000361714.1_Frame_Shift_Ins_p.K224fs	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	206					cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CACTTATTTGGAAAAAAAAATG	0.332																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.624dupA	6.37:g.112389442_112389442dupA	ENSP00000357655:p.Lys206fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3KR29|Q5H8W4|Q6UXH6	Frame_Shift_Ins	INS	pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt	p.C226fs	ENST00000368666.2	37	c.669_670	CCDS5098.1	6																																																																																			WISP3	-	superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt	ENSG00000112761		0.332	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	HGNC	protein_coding	OTTHUMT00000041873.2	154	0.00	0	-	NM_003880		112389433	112389434	+1	no_errors	ENST00000361714	ensembl	human	known	69_37n	frame_shift_ins	91	36.81	53	INS	1.000:1.000	A
WLS	79971	genome.wustl.edu	37	1	68624864	68624864	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:68624864G>A	ENST00000262348.4	-	3	699	c.446C>T	c.(445-447)aCt>aTt	p.T149I	WLS_ENST00000370976.3_Missense_Mutation_p.T58I|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.T147I|WLS_ENST00000540432.1_Missense_Mutation_p.T149I|GNG12-AS1_ENST00000420587.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	149	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GGCCATTTCAGTCCACTCAGC	0.468																																						dbGAP											0													168.0	136.0	147.0					1																	68624864		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.446C>T	1.37:g.68624864G>A	ENSP00000262348:p.Thr149Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	NULL	p.T149I	ENST00000262348.4	37	c.446	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234528	0.58886	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976;ENST00000533537;ENST00000530486;ENST00000370973;ENST00000471243	T;T;T;T	0.47177	0.85;0.85;0.87;0.87	5.94	4.01	0.46588	.	0.203730	0.50627	N	0.000116	T	0.44414	0.1292	M	0.66939	2.045	0.42671	D	0.993513	D;P;P;D	0.55605	0.972;0.918;0.8;0.972	P;P;B;P	0.57057	0.812;0.556;0.261;0.812	T	0.49532	-0.8930	10	0.49607	T	0.09	-16.8251	6.2076	0.20612	0.1585:0.0:0.6124:0.2292	.	149;58;149;147	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	I	149;147;149;58;16;104;16;104	ENSP00000446112:T149I;ENSP00000346829:T147I;ENSP00000262348:T149I;ENSP00000360015:T58I	ENSP00000262348:T149I	T	-	2	0	WLS	68397452	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	3.202000	0.51067	1.457000	0.47850	0.650000	0.86243	ACT	WLS	-	NULL	ENSG00000116729		0.468	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	213	0.47	1	G	NM_024911		68624864	68624864	-1	no_errors	ENST00000540432	ensembl	human	known	69_37n	missense	171	35.47	94	SNP	0.969	A
WNK1	65125	genome.wustl.edu	37	12	992227	992227	+	Splice_Site	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:992227T>C	ENST00000315939.6	+	15	4132		c.e15+2		WNK1_ENST00000535572.1_Splice_Site|WNK1_ENST00000537687.1_Splice_Site|WNK1_ENST00000340908.4_Splice_Site|WNK1_ENST00000530271.2_Splice_Site	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACAATTATGGTACGTCTGCAT	0.348																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													144.0	157.0	152.0					12																	992227		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.3489+2T>C	12.37:g.992227T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Splice_Site	SNP	-	e17+2	ENST00000315939.6	37	c.4983+2	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509242	0.85282	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3083	0.82859	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WNK1	862488	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	2.250000	0.74265	0.455000	0.32223	.	WNK1	-	-	ENSG00000060237		0.348	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	256	0.39	1	T	NM_018979	Intron	992227	992227	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	splice_site	161	32.35	77	SNP	1.000	C
WNK1	65125	genome.wustl.edu	37	12	1005583	1005583	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:1005583C>T	ENST00000315939.6	+	24	6573	c.5930C>T	c.(5929-5931)gCa>gTa	p.A1977V	WNK1_ENST00000535572.1_Missense_Mutation_p.A1729V|WNK1_ENST00000537687.1_Missense_Mutation_p.A2237V|WNK1_ENST00000340908.4_Missense_Mutation_p.A1570V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2475V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1977					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGACCAGTGGCATCTCCTCCT	0.448																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													142.0	143.0	142.0					12																	1005583		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5930C>T	12.37:g.1005583C>T	ENSP00000313059:p.Ala1977Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A2475V	ENST00000315939.6	37	c.7424	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	7.784	0.710063	0.15239	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.69306	-0.39;-0.35;-0.35;-0.37;0.8	5.92	4.01	0.46588	.	0.731884	0.12902	N	0.429714	T	0.40670	0.1126	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.20874	-1.0262	10	0.32370	T	0.25	-1.8869	7.7741	0.29026	0.1323:0.7258:0.0:0.1419	.	1730;1729;1977	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	1729;1977;2237;1150;2475;1570	ENSP00000441972:A1729V;ENSP00000313059:A1977V;ENSP00000444465:A2237V;ENSP00000433548:A2475V;ENSP00000341292:A1570V	ENSP00000252477:A1150V	A	+	2	0	WNK1	875844	0.159000	0.22864	0.191000	0.23289	0.267000	0.26476	0.673000	0.25203	1.470000	0.48102	0.655000	0.94253	GCA	WNK1	-	NULL	ENSG00000060237		0.448	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	197	0.00	0	C	NM_018979		1005583	1005583	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	133	39.09	86	SNP	0.023	T
WNT7B	7477	genome.wustl.edu	37	22	46345958	46345958	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr22:46345958C>T	ENST00000339464.4	-	2	514	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	WNT7B_ENST00000410089.1_Missense_Mutation_p.R31Q|WNT7B_ENST00000409496.3_Missense_Mutation_p.R51Q|WNT7B_ENST00000410058.1_Missense_Mutation_p.R47Q	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	47					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCACGCTGCCGCGGGGCTAG	0.622																																						dbGAP											0													47.0	48.0	47.0					22																	46345958		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.140G>A	22.37:g.46345958C>T	ENSP00000341032:p.Arg47Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R47Q	ENST00000339464.4	37	c.140	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490788	0.84962	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	3.82	3.82	0.43975	.	0.140925	0.48767	U	0.000168	T	0.76364	0.3977	L	0.49126	1.545	0.80722	D	1	D;D	0.60575	0.975;0.988	P;P	0.52109	0.576;0.69	T	0.79374	-0.1830	10	0.54805	T	0.06	.	14.8554	0.70332	0.0:1.0:0.0:0.0	.	51;47	A8K0G1;P56706	.;WNT7B_HUMAN	Q	47;31;51;47	ENSP00000341032:R47Q;ENSP00000386781:R31Q;ENSP00000386546:R51Q;ENSP00000387217:R47Q	ENSP00000341032:R47Q	R	-	2	0	WNT7B	44724622	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.639000	0.67868	1.961000	0.56991	0.561000	0.74099	CGG	WNT7B	-	pfam_Wnt,smart_Wnt	ENSG00000188064		0.622	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	50	0.00	0	C	NM_058238		46345958	46345958	-1	no_errors	ENST00000339464	ensembl	human	known	69_37n	missense	29	56.72	38	SNP	1.000	T
WRN	7486	genome.wustl.edu	37	8	30977830	30977830	+	Silent	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:30977830T>C	ENST00000298139.5	+	21	2769	c.2520T>C	c.(2518-2520)ggT>ggC	p.G840G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	840	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCATTACGGTGCTCCTAAGG	0.433			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													190.0	178.0	182.0					8																	30977830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2520T>C	8.37:g.30977830T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.G840	ENST00000298139.5	37	c.2520	CCDS6082.1	8																																																																																			WRN	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.433	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	228	0.00	0	T			30977830	30977830	+1	no_errors	ENST00000298139	ensembl	human	known	69_37n	silent	199	28.67	80	SNP	0.896	C
WWC3	55841	genome.wustl.edu	37	X	10106783	10106783	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:10106783G>A	ENST00000380861.4	+	21	3282	c.2891G>A	c.(2890-2892)cGc>cAc	p.R964H	WWC3_ENST00000454666.1_Missense_Mutation_p.R964H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	964					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTCATGGCCCGCACCTCCCTG	0.602																																						dbGAP											0													41.0	28.0	32.0					X																	10106783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2891G>A	X.37:g.10106783G>A	ENSP00000370242:p.Arg964His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R964H	ENST00000380861.4	37	c.2891	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.529279	0.96446	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84940	0.0865	9	.	.	.	-12.1442	18.3888	0.90475	0.0:0.0:1.0:0.0	.	964	Q9ULE0	WWC3_HUMAN	H	964;964;459	ENSP00000370242:R964H;ENSP00000399584:R964H	.	R	+	2	0	WWC3	10066783	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.561000	0.98142	2.370000	0.80446	0.529000	0.55759	CGC	WWC3	-	NULL	ENSG00000047644		0.602	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	40	0.00	0	G	NM_015691		10106783	10106783	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	A
XCL1	6375	genome.wustl.edu	37	1	168550325	168550325	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:168550325A>G	ENST00000367818.3	+	3	377	c.212A>G	c.(211-213)gAt>gGt	p.D71G		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	71					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GTCTGTGCTGATCCACAAGCC	0.473																																						dbGAP											0													185.0	171.0	176.0					1																	168550325		2203	4300	6503	-	-	-	SO:0001583	missense	0			D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.212A>G	1.37:g.168550325A>G	ENSP00000356792:p.Asp71Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52MA8	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1	p.D71G	ENST00000367818.3	37	c.212	CCDS1274.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.031143	0.75504	.	.	ENSG00000143184	ENST00000367818	T	0.05513	3.43	4.83	4.83	0.62350	Chemokine interleukin-8-like domain (3);	0.428619	0.24174	N	0.040871	T	0.22282	0.0537	H	0.94582	3.555	0.28757	N	0.901095	D	0.64830	0.994	D	0.65684	0.937	T	0.28396	-1.0045	9	0.72032	D	0.01	-5.4439	10.967	0.47418	1.0:0.0:0.0:0.0	.	71	P47992	XCL1_HUMAN	G	71	ENSP00000356792:D71G	ENSP00000356792:D71G	D	+	2	0	XCL1	166816949	0.997000	0.39634	0.772000	0.31596	0.937000	0.57800	3.814000	0.55643	2.149000	0.67028	0.533000	0.62120	GAT	XCL1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1	ENSG00000143184		0.473	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL1	HGNC	protein_coding	OTTHUMT00000083612.1	753	0.00	0	A	NM_002995		168550325	168550325	+1	no_errors	ENST00000367818	ensembl	human	known	69_37n	missense	1482	16.53	294	SNP	0.943	G
XIRP1	165904	genome.wustl.edu	37	3	39227239	39227239	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr3:39227239C>T	ENST00000340369.3	-	2	3926	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1233					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAATGTGGCGGCCTAGAGG	0.642																																						dbGAP											0													27.0	31.0	30.0					3																	39227239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3698G>A	3.37:g.39227239C>T	ENSP00000343140:p.Arg1233His	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R1233H	ENST00000340369.3	37	c.3698	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.792004	0.00623	.	.	ENSG00000168334	ENST00000340369	T	0.03689	3.84	4.17	-2.85	0.05734	.	3.243120	0.04365	N	0.358085	T	0.01489	0.0048	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45702	-0.9243	10	0.10902	T	0.67	.	4.607	0.12382	0.0:0.3379:0.3398:0.3224	.	1233	Q702N8	XIRP1_HUMAN	H	1233	ENSP00000343140:R1233H	ENSP00000343140:R1233H	R	-	2	0	XIRP1	39202243	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	-0.246000	0.08878	-0.484000	0.06763	0.655000	0.94253	CGC	XIRP1	-	NULL	ENSG00000168334		0.642	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	70	0.00	0	C	XM_093522		39227239	39227239	-1	no_errors	ENST00000340369	ensembl	human	known	69_37n	missense	18	58.14	25	SNP	0.000	T
XPO4	64328	genome.wustl.edu	37	13	21417072	21417072	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:21417072G>A	ENST00000255305.6	-	6	760	c.689C>T	c.(688-690)gCc>gTc	p.A230V	XPO4_ENST00000400602.2_Missense_Mutation_p.A230V			Q9C0E2	XPO4_HUMAN	exportin 4	230					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GACTTGATTGGCGAGTGCAAG	0.393																																						dbGAP											0													66.0	66.0	66.0					13																	21417072		1917	4147	6064	-	-	-	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.689C>T	13.37:g.21417072G>A	ENSP00000255305:p.Ala230Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A230V	ENST00000255305.6	37	c.689	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169262	0.57584	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.23754	1.89;1.89	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.41824	1.3	0.80722	D	1	B	0.17667	0.023	B	0.17433	0.018	T	0.15150	-1.0447	10	0.02654	T	1	-15.1927	20.6593	0.99626	0.0:0.0:1.0:0.0	.	230	Q9C0E2	XPO4_HUMAN	V	230;100;230	ENSP00000383444:A230V;ENSP00000255305:A230V	ENSP00000255305:A230V	A	-	2	0	XPO4	20315072	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GCC	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	112	0.00	0	G	NM_022459		21417072	21417072	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	missense	87	41.45	63	SNP	1.000	A
XPO4	64328	genome.wustl.edu	37	13	21442809	21442809	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr13:21442809C>T	ENST00000255305.6	-	2	172	c.101G>A	c.(100-102)cGc>cAc	p.R34H	XPO4_ENST00000400602.2_Missense_Mutation_p.R34H|XPO4_ENST00000490513.1_5'UTR			Q9C0E2	XPO4_HUMAN	exportin 4	34					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCATGCTGGCGTTGTTCATT	0.313																																						dbGAP											0													159.0	153.0	155.0					13																	21442809		1914	4128	6042	-	-	-	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.101G>A	13.37:g.21442809C>T	ENSP00000255305:p.Arg34His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R34H	ENST00000255305.6	37	c.101	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844692	0.91197	.	.	ENSG00000132953	ENST00000400602;ENST00000255305	T;T	0.76448	-1.02;-1.02	6.08	4.3	0.51218	Armadillo-type fold (1);	0.047211	0.85682	D	0.000000	D	0.86669	0.5988	M	0.75085	2.285	0.52501	D	0.999957	D	0.89917	1.0	D	0.63033	0.91	D	0.88023	0.2770	10	0.72032	D	0.01	-1.4664	16.8064	0.85706	0.0:0.757:0.243:0.0	.	34	Q9C0E2	XPO4_HUMAN	H	34	ENSP00000383444:R34H;ENSP00000255305:R34H	ENSP00000255305:R34H	R	-	2	0	XPO4	20340809	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.080000	0.76837	0.849000	0.35215	0.655000	0.94253	CGC	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.313	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	417	0.00	0	C	NM_022459		21442809	21442809	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	missense	288	38.33	179	SNP	1.000	T
DNM1L	10059	genome.wustl.edu	37	12	32880435	32880435	+	Intron	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:32880435delA	ENST00000549701.1	+	10	1153				YARS2_ENST00000551673.1_5'UTR|DNM1L_ENST00000547312.1_Intron|DNM1L_ENST00000553257.1_Intron|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000358214.5_Intron|DNM1L_ENST00000266481.6_Intron|DNM1L_ENST00000452533.2_Intron|DNM1L_ENST00000381000.4_Intron			O00429	DNM1L_HUMAN	dynamin 1-like						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGATGGCGCTAAAAAAAGAGA	0.473																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1080-3513A>-	12.37:g.32880435delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	RNA	DEL	-	NULL	ENST00000549701.1	37	NULL	CCDS8729.1	12																																																																																			YARS2	-	-	ENSG00000139131		0.473	DNM1L-003	KNOWN	basic|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404124.1	36	0.00	0	A	NM_012062		32880435	32880435	-1	no_errors	ENST00000551673	ensembl	human	known	69_37n	rna	29	30.95	13	DEL	0.909	-
YTHDF1	54915	genome.wustl.edu	37	20	61834907	61834907	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:61834907A>G	ENST00000370339.3	-	4	726	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L	YTHDF1_ENST00000370333.4_Missense_Mutation_p.F79L|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	129							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CATGCTGAGAACGCAGGGTTT	0.562																																						dbGAP											0													56.0	53.0	54.0					20																	61834907		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.385T>C	20.37:g.61834907A>G	ENSP00000359364:p.Phe129Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.F129L	ENST00000370339.3	37	c.385	CCDS13511.1	20	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779388	0.90195	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.40225	1.04;1.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.75447	2.3	0.80722	D	1	D	0.59357	0.985	P	0.57846	0.828	T	0.58451	-0.7634	10	0.30078	T	0.28	-25.8221	14.982	0.71319	1.0:0.0:0.0:0.0	.	129	Q9BYJ9	YTHD1_HUMAN	L	129;79	ENSP00000359364:F129L;ENSP00000359358:F79L	ENSP00000359358:F79L	F	-	1	0	YTHDF1	61305352	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	9.204000	0.95041	1.945000	0.56424	0.402000	0.26972	TTC	YTHDF1	-	NULL	ENSG00000149658		0.562	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF1	HGNC	protein_coding	OTTHUMT00000080110.2	74	0.00	0	A	NM_017798		61834907	61834907	-1	no_errors	ENST00000370339	ensembl	human	known	69_37n	missense	52	35.00	28	SNP	1.000	G
ZBTB1	22890	genome.wustl.edu	37	14	64989787	64989787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr14:64989787delA	ENST00000554015.1	+	4	1996	c.1565delA	c.(1564-1566)caafs	p.Q522fs	ZBTB1_ENST00000358738.3_Frame_Shift_Del_p.Q522fs|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.Q522fs			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	522					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AACAGTATCCAAAAAAAGCAG	0.378																																						dbGAP											0													142.0	148.0	146.0					14																	64989787		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1565delA	14.37:g.64989787delA	ENSP00000451000:p.Gln522fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S8|Q86SW8	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K524fs	ENST00000554015.1	37	c.1565	CCDS45126.1	14																																																																																			ZBTB1	-	NULL	ENSG00000126804		0.378	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	321	0.31	1	A			64989787	64989787	+1	no_errors	ENST00000394712	ensembl	human	known	69_37n	frame_shift_del	224	36.91	134	DEL	0.222	-
ZBTB41	360023	genome.wustl.edu	37	1	197168890	197168890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:197168890delT	ENST00000367405.4	-	1	782	c.714delA	c.(712-714)aaafs	p.K238fs	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K238K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTAACCCATGTTTTTTCCCTA	0.368																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											31.0	33.0	33.0					1																	197168890		2198	4295	6493	-	-	-	SO:0001589	frameshift_variant	0				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.714delA	1.37:g.197168890delT	ENSP00000356375:p.Lys238fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K238fs	ENST00000367405.4	37	c.714	CCDS30960.1	1																																																																																			ZBTB41	-	NULL	ENSG00000177888		0.368	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	69	0.00	0	T	NM_194314		197168890	197168890	-1	no_errors	ENST00000367405	ensembl	human	known	69_37n	frame_shift_del	114	19.58	28	DEL	1.000	-
ZC3H12B	340554	genome.wustl.edu	37	X	64722831	64722831	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:64722831C>T	ENST00000338957.4	+	5	2320	c.2253C>T	c.(2251-2253)ctC>ctT	p.L751L	ZC3H12B_ENST00000423889.3_Silent_p.L740L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	751							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTAACAGCCTCATGCAACCAT	0.552																																						dbGAP											0													86.0	83.0	84.0					X																	64722831		2184	4289	6473	-	-	-	SO:0001819	synonymous_variant	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2253C>T	X.37:g.64722831C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	pfam_RNase_Zc3h12	p.L751	ENST00000338957.4	37	c.2253	CCDS48131.2	X																																																																																			ZC3H12B	-	NULL	ENSG00000102053		0.552	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	216	0.00	0	C	XM_293334		64722831	64722831	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	silent	158	37.80	96	SNP	1.000	T
ZC3H7A	29066	genome.wustl.edu	37	16	11852388	11852388	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:11852388T>C	ENST00000396516.2	-	19	2524	c.2327A>G	c.(2326-2328)aAc>aGc	p.N776S	ZC3H7A_ENST00000575984.1_5'UTR|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.N776S			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	776						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGCAATATGGTTGCACAGCTG	0.343																																						dbGAP											0													73.0	70.0	71.0					16																	11852388		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2327A>G	16.37:g.11852388T>C	ENSP00000379773:p.Asn776Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.N776S	ENST00000396516.2	37	c.2327	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787216	0.31593	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.09255	3.0;3.0	5.73	5.73	0.89815	Zinc finger, CCCH-type (2);	0.082934	0.85682	D	0.000000	T	0.19087	0.0458	L	0.51422	1.61	0.80722	D	1	D;P	0.55172	0.97;0.949	P;P	0.55345	0.774;0.599	T	0.05321	-1.0892	10	0.09590	T	0.72	.	15.1965	0.73096	0.0:0.0:0.0:1.0	.	497;776	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	S	776	ENSP00000347999:N776S;ENSP00000379773:N776S	ENSP00000347999:N776S	N	-	2	0	ZC3H7A	11759889	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	5.404000	0.66344	2.180000	0.69256	0.533000	0.62120	AAC	ZC3H7A	-	smart_Znf_CCCH	ENSG00000122299		0.343	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	209	0.00	0	T	NM_014153		11852388	11852388	-1	no_errors	ENST00000355758	ensembl	human	known	69_37n	missense	126	36.50	73	SNP	1.000	C
ZC3HAV1	56829	genome.wustl.edu	37	7	138764573	138764573	+	Silent	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:138764573T>G	ENST00000242351.5	-	4	1430	c.1114A>C	c.(1114-1116)Agg>Cgg	p.R372R	ZC3HAV1_ENST00000471652.1_Silent_p.R372R|ZC3HAV1_ENST00000464606.1_Silent_p.R372R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	372					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GTCTTTCTCCTGGCGCCTTGG	0.547																																						dbGAP											0													123.0	127.0	126.0					7																	138764573		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1114A>C	7.37:g.138764573T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R372	ENST00000242351.5	37	c.1114	CCDS5851.1	7																																																																																			ZC3HAV1	-	NULL	ENSG00000105939		0.547	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	215	0.00	0	T	NM_020119		138764573	138764573	-1	no_errors	ENST00000242351	ensembl	human	known	69_37n	silent	134	38.36	84	SNP	0.000	G
ZDBF2	57683	genome.wustl.edu	37	2	207174377	207174377	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr2:207174377G>A	ENST00000374423.3	+	5	5511	c.5125G>A	c.(5125-5127)Gca>Aca	p.A1709T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1709							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAGTGCTTCTGCAGTGGATTT	0.463																																						dbGAP											0													80.0	79.0	79.0					2																	207174377		1940	4133	6073	-	-	-	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5125G>A	2.37:g.207174377G>A	ENSP00000363545:p.Ala1709Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.A1709T	ENST00000374423.3	37	c.5125	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615809	0.46631	.	.	ENSG00000204186	ENST00000374423	T	0.56103	0.48	4.06	1.16	0.20824	.	.	.	.	.	T	0.35595	0.0937	L	0.42245	1.32	0.09310	N	1	P	0.43857	0.819	B	0.35813	0.211	T	0.17684	-1.0361	9	0.39692	T	0.17	.	3.7548	0.08581	0.2096:0.0:0.5989:0.1915	.	1709	Q9HCK1	ZDBF2_HUMAN	T	1709	ENSP00000363545:A1709T	ENSP00000363545:A1709T	A	+	1	0	ZDBF2	206882622	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.073000	0.14640	0.248000	0.21435	-0.181000	0.13052	GCA	ZDBF2	-	NULL	ENSG00000204186		0.463	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	222	0.00	0	G	NM_020923		207174377	207174377	+1	no_errors	ENST00000374423	ensembl	human	known	69_37n	missense	155	38.49	97	SNP	0.002	A
ZEB1	6935	genome.wustl.edu	37	10	31815987	31815987	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:31815987A>G	ENST00000320985.10	+	9	3280	c.3170A>G	c.(3169-3171)gAa>gGa	p.E1057G	ZEB1_ENST00000560721.2_Missense_Mutation_p.E1037G|ZEB1_ENST00000446923.2_Missense_Mutation_p.E1041G|ZEB1_ENST00000361642.5_Missense_Mutation_p.E1058G|ZEB1_ENST00000542815.3_Missense_Mutation_p.E990G			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1057	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				aaagaatgtgaaaaaccacaa	0.443																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													90.0	94.0	92.0					10																	31815987		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3170A>G	10.37:g.31815987A>G	ENSP00000319248:p.Glu1057Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E1058G	ENST00000320985.10	37	c.3173	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902769	0.33628	.	.	ENSG00000148516	ENST00000542879;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12774	2.94;2.65;2.69;2.65;2.7	5.38	-1.27	0.09347	.	7.274790	0.00357	N	0.000028	T	0.11452	0.0279	N	0.19112	0.55	0.19775	N	0.999957	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.39840	-0.9594	10	0.48119	T	0.1	-1.7665	11.4065	0.49900	0.4804:0.0:0.5196:0.0	.	990;1041;1037;1058;1057	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	G	839;1058;1052;990;1057;1037;948;1041	ENSP00000444282:E839G;ENSP00000354487:E1058G;ENSP00000444891:E990G;ENSP00000319248:E1057G;ENSP00000391612:E1041G	ENSP00000319248:E1057G	E	+	2	0	ZEB1	31855993	0.907000	0.30839	0.086000	0.20670	0.965000	0.64279	1.856000	0.39389	-0.165000	0.10908	-0.263000	0.10527	GAA	ZEB1	-	NULL	ENSG00000148516		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	617	0.00	0	A	NM_030751		31815987	31815987	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	missense	455	37.19	270	SNP	0.094	G
ZFHX3	463	genome.wustl.edu	37	16	72822441	72822441	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:72822441delT	ENST00000268489.5	-	10	10406	c.9734delA	c.(9733-9735)aagfs	p.K3245fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.K2331fs|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3245					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTGTGTGCCTTTTCCTTCTC	0.617																																						dbGAP											0													161.0	173.0	169.0					16																	72822441		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9734delA	16.37:g.72822441delT	ENSP00000268489:p.Lys3245fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.K3245fs	ENST00000268489.5	37	c.9734	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	322	0.31	1	T	NM_006885		72822441	72822441	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	frame_shift_del	191	35.29	108	DEL	1.000	-
ZFHX3	463	genome.wustl.edu	37	16	72991442	72991442	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:72991442T>A	ENST00000268489.5	-	2	3275	c.2603A>T	c.(2602-2604)cAg>cTg	p.Q868L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	868					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTCATGTTCTGGGCCAGGTA	0.632																																						dbGAP											0													121.0	109.0	114.0					16																	72991442		2198	4300	6498	-	-	-	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2603A>T	16.37:g.72991442T>A	ENSP00000268489:p.Gln868Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q868L	ENST00000268489.5	37	c.2603	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856880	0.32791	.	.	ENSG00000140836	ENST00000268489	T	0.76186	-1.0	5.52	5.52	0.82312	.	0.000000	0.47852	D	0.000219	D	0.84047	0.5386	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	D	0.77004	0.989	D	0.84173	0.0435	10	0.45353	T	0.12	.	15.6766	0.77332	0.0:0.0:0.0:1.0	.	868	Q15911	ZFHX3_HUMAN	L	868	ENSP00000268489:Q868L	ENSP00000268489:Q868L	Q	-	2	0	ZFHX3	71548943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.099000	0.63709	0.533000	0.62120	CAG	ZFHX3	-	NULL	ENSG00000140836		0.632	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	366	0.00	0	T	NM_006885		72991442	72991442	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	missense	239	37.98	147	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72991573	72991573	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:72991573G>A	ENST00000268489.5	-	2	3144	c.2472C>T	c.(2470-2472)acC>acT	p.T824T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	824					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTTCTCACTGGTCATGTGAA	0.582																																						dbGAP											0													214.0	181.0	192.0					16																	72991573		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2472C>T	16.37:g.72991573G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T824	ENST00000268489.5	37	c.2472	CCDS10908.1	16																																																																																			ZFHX3	-	smart_Znf_C2H2-like	ENSG00000140836		0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	351	0.00	0	G	NM_006885		72991573	72991573	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	silent	221	39.01	142	SNP	1.000	A
ZFP82	284406	genome.wustl.edu	37	19	36884529	36884529	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:36884529C>T	ENST00000392161.3	-	5	955	c.713G>A	c.(712-714)gGt>gAt	p.G238D	ZFP82_ENST00000392171.1_Missense_Mutation_p.G238D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGATCTGCACCACATATGAA	0.423																																						dbGAP											0													157.0	155.0	156.0					19																	36884529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.713G>A	19.37:g.36884529C>T	ENSP00000431265:p.Gly238Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC63|Q8TF53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G238D	ENST00000392161.3	37	c.713	CCDS12493.1	19	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640836	0.29157	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.15017	2.46;2.46	4.47	3.42	0.39159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173108	0.28006	N	0.016969	T	0.10981	0.0268	N	0.17764	0.52	0.09310	N	1	P	0.41420	0.749	B	0.40741	0.339	T	0.11518	-1.0584	10	0.44086	T	0.13	.	7.5537	0.27812	0.1895:0.6273:0.1833:0.0	.	238	Q8N141	ZFP82_HUMAN	D	238	ENSP00000431265:G238D;ENSP00000446080:G238D	ENSP00000431265:G238D	G	-	2	0	ZFP82	41576369	0.000000	0.05858	0.980000	0.43619	0.840000	0.47671	-0.995000	0.03712	1.083000	0.41159	0.655000	0.94253	GGT	ZFP82	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181007		0.423	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP82	HGNC	protein_coding	OTTHUMT00000109552.2	372	0.27	1	C	NM_133466		36884529	36884529	-1	no_errors	ENST00000392161	ensembl	human	known	69_37n	missense	242	39.04	155	SNP	0.000	T
ZFYVE28	57732	genome.wustl.edu	37	4	2306975	2306975	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:2306975A>G	ENST00000290974.2	-	8	1431	c.1092T>C	c.(1090-1092)atT>atC	p.I364I	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.I294I|ZFYVE28_ENST00000511071.1_Silent_p.I334I	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	364					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						ACTGGCAGGCAATGGGCGGTG	0.677																																						dbGAP											0													37.0	38.0	38.0					4																	2306975		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1092T>C	4.37:g.2306975A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.I364	ENST00000290974.2	37	c.1092	CCDS33942.1	4																																																																																			ZFYVE28	-	NULL	ENSG00000159733		0.677	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	30	0.00	0	A	XM_035371		2306975	2306975	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	silent	22	43.59	17	SNP	0.488	G
ZMYM3	9203	genome.wustl.edu	37	X	70472854	70472854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chrX:70472854delC	ENST00000353904.2	-	2	439	c.252delG	c.(250-252)gggfs	p.G84fs	ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.G84fs|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	84					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TATAGAGCAGCCCCCCCAGCC	0.642																																						dbGAP											0													15.0	17.0	16.0					X																	70472854		2194	4281	6475	-	-	-	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.252delG	X.37:g.70472854delC	ENSP00000343909:p.Gly84fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.L85fs	ENST00000353904.2	37	c.252	CCDS14409.1	X																																																																																			ZMYM3	-	NULL	ENSG00000147130		0.642	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	38	0.00	0	C	NM_201599		70472854	70472854	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	frame_shift_del	21	25.00	7	DEL	1.000	-
ZNF100	163227	genome.wustl.edu	37	19	21910146	21910146	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:21910146C>T	ENST00000358296.6	-	5	1166	c.968G>A	c.(967-969)gGc>gAc	p.G323D	ZNF100_ENST00000305570.6_Missense_Mutation_p.G259D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAAGCTTTGCCACATTCTGT	0.403																																						dbGAP											0													58.0	62.0	61.0					19																	21910146		2200	4291	6491	-	-	-	SO:0001583	missense	0			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.968G>A	19.37:g.21910146C>T	ENSP00000351042:p.Gly323Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7M4M0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G323D	ENST00000358296.6	37	c.968	CCDS42538.1	19	.	.	.	.	.	.	.	.	.	.	.	8.927	0.962418	0.18583	.	.	ENSG00000197020	ENST00000358296	T	0.01430	4.9	0.841	0.841	0.18918	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	L	0.33668	1.02	0.34387	D	0.693743	P;P	0.48911	0.917;0.724	B;B	0.43754	0.424;0.43	T	0.59947	-0.7358	9	0.54805	T	0.06	.	8.3927	0.32537	0.0:1.0:0.0:0.0	.	323;377	Q8IYN0;Q4G131	ZN100_HUMAN;.	D	323	ENSP00000351042:G323D	ENSP00000351042:G323D	G	-	2	0	ZNF100	21701986	0.116000	0.22171	0.843000	0.33291	0.843000	0.47879	0.646000	0.24797	0.182000	0.20032	0.185000	0.17295	GGC	ZNF100	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197020		0.403	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF100	HGNC	protein_coding	OTTHUMT00000464087.1	68	0.00	0	C	NM_173531		21910146	21910146	-1	no_errors	ENST00000358296	ensembl	human	known	69_37n	missense	34	17.07	7	SNP	1.000	T
ZNF143	7702	genome.wustl.edu	37	11	9501033	9501033	+	Silent	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr11:9501033A>G	ENST00000396602.2	+	7	704	c.585A>G	c.(583-585)ggA>ggG	p.G195G	ZNF143_ENST00000530463.1_Silent_p.G194G|ZNF143_ENST00000396604.1_Silent_p.G194G|ZNF143_ENST00000299606.2_Silent_p.G167G|ZNF143_ENST00000396597.3_Silent_p.G164G	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	195					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CCATTGATGGAAGTGAAAGTG	0.333																																						dbGAP											0													91.0	95.0	93.0					11																	9501033		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.585A>G	11.37:g.9501033A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G195	ENST00000396602.2	37	c.585	CCDS7799.2	11																																																																																			ZNF143	-	NULL	ENSG00000166478		0.333	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	363	0.00	0	A	NM_003442		9501033	9501033	+1	no_errors	ENST00000396602	ensembl	human	known	69_37n	silent	236	39.18	152	SNP	1.000	G
ZNF16	7564	genome.wustl.edu	37	8	146156722	146156722	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:146156722G>A	ENST00000276816.4	-	4	1637	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	ZNF16_ENST00000394909.2_Missense_Mutation_p.T484M	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	484	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTCTCTCCCGTGTGGATGAT	0.532																																						dbGAP											0													102.0	96.0	98.0					8																	146156722		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1451C>T	8.37:g.146156722G>A	ENSP00000276816:p.Thr484Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T484M	ENST00000276816.4	37	c.1451	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001871	0.35320	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.26373	1.74;1.74	3.91	3.91	0.45181	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52108	0.1714	M	0.78916	2.43	0.33900	D	0.638445	D	0.89917	1.0	D	0.91635	0.999	T	0.68678	-0.5345	9	0.87932	D	0	.	14.8156	0.70031	0.0:0.0:1.0:0.0	.	484	P17020	ZNF16_HUMAN	M	484	ENSP00000276816:T484M;ENSP00000378369:T484M	ENSP00000276816:T484M	T	-	2	0	ZNF16	146127526	1.000000	0.71417	0.975000	0.42487	0.101000	0.19017	3.696000	0.54757	2.006000	0.58801	0.462000	0.41574	ACG	ZNF16	-	pfscan_Znf_C2H2	ENSG00000170631		0.532	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	187	0.00	0	G	NM_006958		146156722	146156722	-1	no_errors	ENST00000276816	ensembl	human	known	69_37n	missense	92	34.75	49	SNP	0.996	A
ZNF222	7673	genome.wustl.edu	37	19	44536586	44536586	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:44536586G>A	ENST00000187879.8	+	4	921	c.759G>A	c.(757-759)ggG>ggA	p.G253G	ZNF222_ENST00000391960.3_Silent_p.G293G|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TTCATACTGGGGAGAAGCCAT	0.393																																						dbGAP											0													126.0	131.0	129.0					19																	44536586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.759G>A	19.37:g.44536586G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G293	ENST00000187879.8	37	c.879	CCDS33045.1	19																																																																																			ZNF222	-	pfscan_Znf_C2H2	ENSG00000159885		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2	307	0.00	0	G			44536586	44536586	+1	no_errors	ENST00000391960	ensembl	human	known	69_37n	silent	203	38.30	126	SNP	0.963	A
ZNF160	90338	genome.wustl.edu	37	19	53572768	53572768	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:53572768G>A	ENST00000429604.1	-	7	1434	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	ZNF160_ENST00000599056.1_Missense_Mutation_p.P340L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P340L|ZNF160_ENST00000601421.1_Missense_Mutation_p.P304L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	340					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACACTTGTAAGGTTTCTCTCC	0.393																																						dbGAP											0													86.0	86.0	86.0					19																	53572768		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1019C>T	19.37:g.53572768G>A	ENSP00000406201:p.Pro340Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P340L	ENST00000429604.1	37	c.1019	CCDS12859.1	19	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338890	0.41398	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.17054	2.3;2.3	2.47	1.32	0.21799	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21718	0.0523	M	0.77486	2.375	0.80722	D	1	P	0.40909	0.732	B	0.40038	0.317	T	0.05500	-1.0881	9	0.66056	D	0.02	.	9.0382	0.36300	0.0:0.0:0.7773:0.2227	.	340	Q9HCG1	ZN160_HUMAN	L	340	ENSP00000406201:P340L;ENSP00000409597:P340L	ENSP00000409597:P340L	P	-	2	0	ZNF160	58264580	0.011000	0.17503	0.443000	0.26883	0.397000	0.30659	0.637000	0.24659	0.299000	0.22661	0.561000	0.74099	CCT	ZNF160	-	pfscan_Znf_C2H2	ENSG00000170949		0.393	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	239	0.00	0	G	NM_033288		53572768	53572768	-1	no_errors	ENST00000418871	ensembl	human	known	69_37n	missense	145	38.56	91	SNP	0.967	A
ZNF236	7776	genome.wustl.edu	37	18	74639295	74639295	+	Frame_Shift_Del	DEL	G	G	-	rs374512685		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr18:74639295delG	ENST00000253159.8	+	24	4428	c.4230delG	c.(4228-4230)acgfs	p.T1410fs	ZNF236_ENST00000320610.9_Frame_Shift_Del_p.T1412fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1410					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCAGCTCACGGGGGAGCCTG	0.552																																						dbGAP											0													63.0	65.0	65.0					18																	74639295		2027	4173	6200	-	-	-	SO:0001589	frameshift_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4230delG	18.37:g.74639295delG	ENSP00000253159:p.Thr1410fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX9|Q9UL37	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1412fs	ENST00000253159.8	37	c.4230	CCDS42447.1	18																																																																																			ZNF236	-	NULL	ENSG00000130856		0.552	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	93	0.00	0	G			74639295	74639295	+1	no_errors	ENST00000253159	ensembl	human	known	69_37n	frame_shift_del	60	36.00	36	DEL	0.299	-
ZNF259P1	442240	genome.wustl.edu	37	6	109107153	109107153	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:109107153G>A	ENST00000572422.1	-	0	1087									zinc finger protein 259 pseudogene 1																		TGGAACTGTCGCCCAGTGTGA	0.493																																						dbGAP											0																																										-	-	-			0			Z95118		6q21	2012-10-05	2009-11-20	2009-11-20	ENSG00000219565	ENSG00000219565			13052	pseudogene	pseudogene			"""zinc finger protein 259, pseudogene"""	ZNF259P			Standard	NG_009460		Approved	354J5			OTTHUMG00000016136		6.37:g.109107153G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000572422.1	37	NULL		6																																																																																			ZNF259P1	-	-	ENSG00000219565		0.493	ZNF259P1-002	KNOWN	basic	processed_transcript	ZNF259P1	HGNC	pseudogene	OTTHUMT00000436273.1	177	0.56	1	G	NG_009460		109107153	109107153	-1	no_errors	ENST00000572422	ensembl	human	known	69_37n	rna	110	38.20	68	SNP	0.749	A
ZNF28	7576	genome.wustl.edu	37	19	53303462	53303462	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:53303462T>C	ENST00000457749.2	-	4	1755	c.1636A>G	c.(1636-1638)Act>Gct	p.T546A	ZNF28_ENST00000360272.4_Missense_Mutation_p.T493A|ZNF28_ENST00000414252.2_Missense_Mutation_p.T493A|ZNF28_ENST00000438150.2_Missense_Mutation_p.T493A	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTCTCTGCAGTATGAAGTTTA	0.383																																						dbGAP											0													96.0	90.0	92.0					19																	53303462		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1636A>G	19.37:g.53303462T>C	ENSP00000397693:p.Thr546Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T546A	ENST00000457749.2	37	c.1636	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	10.81	1.454937	0.26161	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	1.61	0.395	0.16304	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22627	0.0546	M	0.64676	1.99	0.22378	N	0.999157	B	0.31009	0.303	B	0.26864	0.074	T	0.19778	-1.0295	9	0.72032	D	0.01	.	5.6223	0.17463	0.2433:0.0:0.0:0.7567	.	546	P17035	ZNF28_HUMAN	A	493;546;493;493;493	ENSP00000412143:T493A;ENSP00000397693:T546A;ENSP00000353410:T493A;ENSP00000444965:T493A;ENSP00000375661:T493A	ENSP00000353410:T493A	T	-	1	0	ZNF28	57995274	0.013000	0.17824	0.033000	0.17914	0.054000	0.15201	0.414000	0.21164	-0.103000	0.12175	0.333000	0.21579	ACT	ZNF28	-	pfscan_Znf_C2H2	ENSG00000198538		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	304	0.00	0	T	NM_006969		53303462	53303462	-1	no_errors	ENST00000457749	ensembl	human	known	69_37n	missense	193	35.67	107	SNP	1.000	C
ZNF300	91975	genome.wustl.edu	37	5	150278031	150278031	+	Missense_Mutation	SNP	C	C	A	rs367739776		TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:150278031C>A	ENST00000274599.5	-	4	521	c.101G>T	c.(100-102)aGg>aTg	p.R34M	ZNF300_ENST00000394226.2_Missense_Mutation_p.R34M|ZNF300_ENST00000418587.2_De_novo_Start_InFrame|ZNF300_ENST00000446148.2_Missense_Mutation_p.R50M|ZNF300_ENST00000427179.1_Missense_Mutation_p.R34M	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCACATCCCTGTACAGGGT	0.478																																						dbGAP											0													105.0	102.0	103.0					5																	150278031		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.101G>T	5.37:g.150278031C>A	ENSP00000274599:p.Arg34Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R50M	ENST00000274599.5	37	c.149	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726905	0.48833	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000427179;ENST00000394226	T;T;T;T	0.02787	4.16;4.16;4.16;4.16	3.26	2.38	0.29361	Krueppel-associated box (4);	.	.	.	.	T	0.13030	0.0316	M	0.93283	3.4	0.80722	D	1	D	0.60575	0.988	P	0.56398	0.797	T	0.00385	-1.1773	9	0.66056	D	0.02	.	5.5533	0.17103	0.0:0.7424:0.0:0.2576	.	34	Q96RE9	ZN300_HUMAN	M	50;34;34;34	ENSP00000397178:R50M;ENSP00000274599:R34M;ENSP00000414195:R34M;ENSP00000377773:R34M	ENSP00000274599:R34M	R	-	2	0	ZNF300	150258224	0.000000	0.05858	0.985000	0.45067	0.809000	0.45718	-0.913000	0.04042	0.722000	0.32252	0.467000	0.42956	AGG	ZNF300	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000145908		0.478	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		309	0.00	0	C	NM_052860		150278031	150278031	-1	no_errors	ENST00000446148	ensembl	human	known	69_37n	missense	146	36.24	83	SNP	0.997	A
ZSCAN31	64288	genome.wustl.edu	37	6	28293971	28293971	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:28293971T>C	ENST00000414429.1	-	8	2096	c.1193A>G	c.(1192-1194)cAg>cGg	p.Q398R	ZSCAN31_ENST00000446474.1_Missense_Mutation_p.Q239R|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.Q398R|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.Q398R|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.Q398R			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	398					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGGATTTTCTGATGTTTCTT	0.443																																						dbGAP											0													294.0	308.0	303.0					6																	28293971		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1193A>G	6.37:g.28293971T>C	ENSP00000390076:p.Gln398Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P178|Q8WWS5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q398R	ENST00000414429.1	37	c.1193	CCDS4649.1	6	.	.	.	.	.	.	.	.	.	.	T	9.902	1.207051	0.22205	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279	T;T;T;T;T	0.01725	4.67;4.67;4.67;4.67;4.67	4.93	0.728	0.18260	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00524	0.0017	L	0.31065	0.9	0.21064	N	0.999793	B	0.19073	0.033	B	0.14578	0.011	T	0.43065	-0.9414	9	0.33141	T	0.24	.	6.2734	0.20966	0.2774:0.0:0.1444:0.5782	.	398	Q96LW9	ZN323_HUMAN	R	398;398;398;239;398	ENSP00000380050:Q398R;ENSP00000413705:Q398R;ENSP00000390076:Q398R;ENSP00000402937:Q239R;ENSP00000345339:Q398R	ENSP00000345339:Q398R	Q	-	2	0	ZNF323	28401950	0.000000	0.05858	0.112000	0.21494	0.242000	0.25591	0.361000	0.20267	-0.053000	0.13289	0.454000	0.30748	CAG	ZNF323	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000235109		0.443	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF323	HGNC	protein_coding	OTTHUMT00000346804.1	388	0.00	0	T	NM_030899		28293971	28293971	-1	no_errors	ENST00000344279	ensembl	human	known	69_37n	missense	244	40.20	164	SNP	0.968	C
ZNF329	79673	genome.wustl.edu	37	19	58639419	58639419	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:58639419C>T	ENST00000598312.1	-	4	1685	c.1452G>A	c.(1450-1452)caG>caA	p.Q484Q	ZNF329_ENST00000358067.4_Silent_p.Q484Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ATTCTGGACACTGATATGGGG	0.527																																						dbGAP											0													126.0	121.0	123.0					19																	58639419		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1452G>A	19.37:g.58639419C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR32|Q9H9R7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q484	ENST00000598312.1	37	c.1452	CCDS12972.1	19																																																																																			ZNF329	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181894		0.527	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	206	0.00	0	C	NM_024620		58639419	58639419	-1	no_errors	ENST00000358067	ensembl	human	known	69_37n	silent	123	45.33	102	SNP	0.056	T
ZNF329	79673	genome.wustl.edu	37	19	58639690	58639690	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:58639690G>T	ENST00000598312.1	-	4	1414	c.1181C>A	c.(1180-1182)tCt>tAt	p.S394Y	ZNF329_ENST00000358067.4_Missense_Mutation_p.S394Y	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTCTCCCCAGAATGGATCTT	0.468																																						dbGAP											0													77.0	72.0	74.0					19																	58639690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1181C>A	19.37:g.58639690G>T	ENSP00000470008:p.Ser394Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR32|Q9H9R7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S394Y	ENST00000598312.1	37	c.1181	CCDS12972.1	19	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357337	0.41801	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.19938	2.11;2.11	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37906	N	0.001881	T	0.45115	0.1326	M	0.76938	2.355	0.46874	D	0.999232	D	0.61080	0.989	P	0.61070	0.883	T	0.50127	-0.8864	10	0.87932	D	0	-14.5328	16.7502	0.85483	0.0:0.0:1.0:0.0	.	394	Q86UD4	ZN329_HUMAN	Y	394	ENSP00000350773:S394Y;ENSP00000439527:S394Y	ENSP00000350773:S394Y	S	-	2	0	ZNF329	63331502	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.705000	0.54823	2.691000	0.91804	0.655000	0.94253	TCT	ZNF329	-	pfscan_Znf_C2H2	ENSG00000181894		0.468	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	117	0.00	0	G	NM_024620		58639690	58639690	-1	no_errors	ENST00000358067	ensembl	human	known	69_37n	missense	70	35.19	38	SNP	1.000	T
ZNF34	80778	genome.wustl.edu	37	8	145999360	145999360	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:145999360T>C	ENST00000343459.4	-	6	1039	c.974A>G	c.(973-975)cAc>cGc	p.H325R	ZNF34_ENST00000429371.2_Missense_Mutation_p.H304R			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AATCCTCTGGTGCTTCATGAG	0.532																																						dbGAP											0													38.0	43.0	41.0					8																	145999360		2173	4282	6455	-	-	-	SO:0001583	missense	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.974A>G	8.37:g.145999360T>C	ENSP00000341528:p.His325Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWN1|Q9BSZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H325R	ENST00000343459.4	37	c.974	CCDS47945.1	8	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340140	0.60963	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371;ENST00000534337	D;D;D	0.96200	-2.18;-2.18;-3.94	3.76	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33309	N	0.005050	D	0.94847	0.8335	H	0.96460	3.825	0.33461	D	0.585005	P;P	0.46277	0.706;0.875	B;B	0.36289	0.133;0.221	D	0.93002	0.6424	10	0.87932	D	0	.	5.0618	0.14560	0.1619:0.0956:0.0:0.7425	.	284;325	E7EN25;Q8IZ26	.;ZNF34_HUMAN	R	284;254;325;304;264	ENSP00000341528:H325R;ENSP00000396894:H304R;ENSP00000434049:H264R	ENSP00000341528:H325R	H	-	2	0	ZNF34	145970164	1.000000	0.71417	0.461000	0.27105	0.891000	0.51852	5.303000	0.65738	0.254000	0.21573	0.533000	0.62120	CAC	ZNF34	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196378		0.532	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	119	0.00	0	T	NM_030580		145999360	145999360	-1	no_errors	ENST00000343459	ensembl	human	known	69_37n	missense	86	32.28	41	SNP	0.999	C
ZNF365	22891	genome.wustl.edu	37	10	64136598	64136598	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:64136598C>T	ENST00000395254.3	+	2	926	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.R216W|ZNF365_ENST00000395255.3_Missense_Mutation_p.R216W	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGACGAGAGCGGGCCTTAAA	0.512																																						dbGAP											0													94.0	104.0	100.0					10																	64136598		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.646C>T	10.37:g.64136598C>T	ENSP00000378674:p.Arg216Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R216W	ENST00000395254.3	37	c.646	CCDS31209.1	10	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593615	0.66219	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.37058	1.22;1.22;1.22	5.52	2.24	0.28232	.	0.078315	0.51477	D	0.000087	T	0.57504	0.2058	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.942;0.966;0.966	T	0.61987	-0.6949	10	0.51188	T	0.08	.	15.4542	0.75299	0.4408:0.5591:0.0:0.0	.	216;216;216;231	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	W	216	ENSP00000378674:R216W;ENSP00000378675:R216W;ENSP00000387091:R216W	ENSP00000378674:R216W	R	+	1	2	ZNF365	63806604	0.998000	0.40836	0.999000	0.59377	0.992000	0.81027	0.461000	0.21940	0.629000	0.30376	0.555000	0.69702	CGG	ZNF365	-	NULL	ENSG00000138311		0.512	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	64	0.00	0	C	NM_014951		64136598	64136598	+1	no_errors	ENST00000410046	ensembl	human	known	69_37n	missense	60	38.14	37	SNP	0.998	T
ZNF365	22891	genome.wustl.edu	37	10	64159513	64159513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:64159513delA	ENST00000395254.3	+	5	1469	c.1189delA	c.(1189-1191)aaafs	p.K399fs	ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAATGGCTAAAAAAAAGCC	0.527																																						dbGAP											0													45.0	43.0	44.0					10																	64159513		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1189delA	10.37:g.64159513delA	ENSP00000378674:p.Lys399fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.K399fs	ENST00000395254.3	37	c.1189	CCDS31209.1	10																																																																																			ZNF365	-	NULL	ENSG00000138311		0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048238.2	102	0.00	0	A	NM_014951		64159513	64159513	+1	no_errors	ENST00000395254	ensembl	human	known	69_37n	frame_shift_del	70	31.07	32	DEL	1.000	-
ZNF384	171017	genome.wustl.edu	37	12	6787583	6787583	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr12:6787583G>A	ENST00000396801.3	-	6	603	c.396C>T	c.(394-396)acC>acT	p.T132T	ZNF384_ENST00000396799.2_Silent_p.T132T|ZNF384_ENST00000396795.1_Silent_p.T132T|ZNF384_ENST00000319770.3_Silent_p.T116T|ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Silent_p.T132T	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	132					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ATGATGCTGTGGTCACAAGAG	0.542			T	"""EWSR1, TAF15 """	ALL																																	dbGAP		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													34.0	34.0	34.0					12																	6787583		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.396C>T	12.37:g.6787583G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T132	ENST00000396801.3	37	c.396	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.542	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	180	0.00	0	G			6787583	6787583	-1	no_errors	ENST00000361959	ensembl	human	known	69_37n	silent	82	41.43	58	SNP	1.000	A
ZNF394	84124	genome.wustl.edu	37	7	99097511	99097511	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:99097511T>G	ENST00000337673.6	-	1	409	c.206A>C	c.(205-207)cAg>cCg	p.Q69P	ZNF394_ENST00000426306.2_Missense_Mutation_p.Q69P|ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	69	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GTAACGCAGCTGCCTAAAGTG	0.622																																					Ovarian(24;589 697 9939 12704 40742)	dbGAP											0													48.0	50.0	49.0					7																	99097511		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.206A>C	7.37:g.99097511T>G	ENSP00000337363:p.Gln69Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q69P	ENST00000337673.6	37	c.206	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504852	0.64410	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.04809	3.55;3.55	3.98	0.383	0.16239	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.316119	0.23234	N	0.050422	T	0.14485	0.0350	M	0.83384	2.64	0.29072	N	0.883233	D;D	0.65815	0.995;0.986	P;P	0.58820	0.846;0.825	T	0.02625	-1.1132	10	0.54805	T	0.06	.	6.7718	0.23598	0.0:0.1798:0.0:0.8202	.	69;69	Q05DA6;Q53GI3	.;ZN394_HUMAN	P	69	ENSP00000337363:Q69P;ENSP00000409565:Q69P	ENSP00000337363:Q69P	Q	-	2	0	ZNF394	98935447	0.000000	0.05858	0.893000	0.35052	0.772000	0.43724	-0.436000	0.06922	0.057000	0.16193	0.459000	0.35465	CAG	ZNF394	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000160908		0.622	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	53	0.00	0	T	NM_032164		99097511	99097511	-1	no_errors	ENST00000337673	ensembl	human	known	69_37n	missense	38	37.70	23	SNP	0.995	G
ZNF395	55893	genome.wustl.edu	37	8	28218426	28218426	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr8:28218426C>T	ENST00000344423.5	-	2	347	c.216G>A	c.(214-216)caG>caA	p.Q72Q	ZNF395_ENST00000523095.1_Silent_p.Q72Q|ZNF395_ENST00000523202.1_Silent_p.Q72Q	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAAGGCCACCTGCTGAAGGC	0.627																																						dbGAP											0													32.0	33.0	33.0					8																	28218426		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.216G>A	8.37:g.28218426C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	pfscan_Znf_C2H2	p.Q72	ENST00000344423.5	37	c.216	CCDS6067.1	8																																																																																			ZNF395	-	NULL	ENSG00000186918		0.627	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	43	0.00	0	C			28218426	28218426	-1	no_errors	ENST00000344423	ensembl	human	known	69_37n	silent	21	40.00	14	SNP	0.990	T
ZNF438	220929	genome.wustl.edu	37	10	31139241	31139241	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:31139241C>A	ENST00000361310.3	-	6	422	c.93G>T	c.(91-93)aaG>aaT	p.K31N	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000444692.2_Missense_Mutation_p.K21N|ZNF438_ENST00000413025.1_Missense_Mutation_p.K31N|ZNF438_ENST00000442986.1_Missense_Mutation_p.K31N|ZNF438_ENST00000331737.6_Missense_Mutation_p.K21N|ZNF438_ENST00000538351.2_5'UTR|ZNF438_ENST00000452305.1_Missense_Mutation_p.K21N|ZNF438_ENST00000436087.2_Missense_Mutation_p.K31N			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	31					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TAAACTGACTCTTATTCTGCA	0.408																																						dbGAP											0													150.0	137.0	141.0					10																	31139241		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.93G>T	10.37:g.31139241C>A	ENSP00000354663:p.Lys31Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K31N	ENST00000361310.3	37	c.93	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907849	0.72868	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000430896	T;T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21;0.21	5.63	4.63	0.57726	.	0.045873	0.85682	D	0.000000	T	0.66297	0.2775	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	T	0.68804	-0.5312	10	0.72032	D	0.01	-19.8697	4.1901	0.10417	0.0:0.7044:0.0:0.2956	.	31;21	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	N	21;31;31;31;31;21;21;31	ENSP00000333571:K21N;ENSP00000354663:K31N;ENSP00000406934:K31N;ENSP00000412363:K31N;ENSP00000387546:K31N;ENSP00000413060:K21N;ENSP00000410898:K21N	ENSP00000333571:K21N	K	-	3	2	ZNF438	31179247	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.167000	0.42415	2.655000	0.90218	0.655000	0.94253	AAG	ZNF438	-	NULL	ENSG00000183621		0.408	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	334	0.00	0	C	NM_182755		31139241	31139241	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	missense	262	31.41	120	SNP	1.000	A
ZNF469	84627	genome.wustl.edu	37	16	88503133	88503133	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:88503133G>T	ENST00000437464.1	+	2	9171	c.9171G>T	c.(9169-9171)caG>caT	p.Q3057H	ZNF469_ENST00000565624.1_Missense_Mutation_p.Q3085H	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3057					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CGAGCTCACAGGGGCCACAGA	0.652																																						dbGAP											0													7.0	8.0	7.0					16																	88503133		691	1579	2270	-	-	-	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.9171G>T	16.37:g.88503133G>T	ENSP00000402343:p.Gln3057His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q3057H	ENST00000437464.1	37	c.9171	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379139	0.24944	.	.	ENSG00000225614	ENST00000437464	T	0.06933	3.24	4.76	-1.5	0.08691	.	.	.	.	.	T	0.03871	0.0109	N	0.14661	0.345	0.09310	N	1	B	0.18863	0.031	B	0.14023	0.01	T	0.47129	-0.9141	9	0.16896	T	0.51	.	5.0611	0.14557	0.3211:0.3994:0.2795:0.0	.	3057	Q96JG9	ZN469_HUMAN	H	3057	ENSP00000402343:Q3057H	ENSP00000402343:Q3057H	Q	+	3	2	ZNF469	87030634	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-0.106000	0.10890	0.071000	0.16664	0.462000	0.41574	CAG	ZNF469	-	NULL	ENSG00000225614		0.652	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		14	0.00	0	G	NG_012236		88503133	88503133	+1	no_errors	ENST00000437464	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.000	T
ZNF496	84838	genome.wustl.edu	37	1	247473858	247473858	+	Intron	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:247473858C>T	ENST00000294753.4	-	6	1116				ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Intron	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			gtaggacgggcagtttctata	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.652-100G>A	1.37:g.247473858C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBS2	RNA	SNP	-	NULL	ENST00000294753.4	37	NULL	CCDS1631.1	1																																																																																			ZNF496	-	-	ENSG00000162714		0.547	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	59	0.00	0	C	NM_032752		247473858	247473858	-1	no_errors	ENST00000462139	ensembl	human	known	69_37n	rna	83	20.19	21	SNP	0.000	T
ZNF507	22847	genome.wustl.edu	37	19	32873310	32873312	+	Intron	DEL	ATG	ATG	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	ATG	ATG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:32873310_32873312delATG	ENST00000311921.4	+	5	2552				ZNF507_ENST00000355898.5_Intron|ZNF507_ENST00000544431.1_Intron	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTACAGAATCATGATAATTTTTC	0.404																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2361-61ATG>-	19.37:g.32873310_32873312delATG		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	RNA	DEL	-	NULL	ENST00000311921.4	37	NULL	CCDS32985.1	19																																																																																			ZNF507	-	-	ENSG00000168813		0.404	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	293	0.00	0	ATG	NM_014910		32873310	32873312	+1	no_errors	ENST00000586664	ensembl	human	putative	69_37n	rna	219	30.91	98	DEL	0.000:0.000:0.000	-
ZNF518A	9849	genome.wustl.edu	37	10	97918856	97918856	+	RNA	DEL	A	A	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr10:97918856delA	ENST00000534948.1	+	0	3634							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATTCAGAACAAAAAAAAACT	0.348																																						dbGAP											0													43.0	42.0	42.0					10																	97918856		1795	4061	5856	-	-	-			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918856delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI5|O15044|Q32MP4	RNA	DEL	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.348	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		73	0.00	0	A	NM_014803		97918856	97918856	+1	no_errors	ENST00000316045	ensembl	human	known	69_37n	rna	38	38.10	24	DEL	0.867	-
ZNF541	84215	genome.wustl.edu	37	19	48025197	48025197	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:48025197delT	ENST00000391901.3	-	13	3624	c.3625delA	c.(3625-3627)atgfs	p.M1209fs	ZNF541_ENST00000448976.1_Frame_Shift_Del_p.M951fs|ZNF541_ENST00000314121.4_Frame_Shift_Del_p.M1228fs			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	1209	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						AACTTGATCATTTTTTTCCAG	0.507																																						dbGAP											0													112.0	99.0	103.0					19																	48025197		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.3625delA	19.37:g.48025197delT	ENSP00000375770:p.Met1209fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDK8	Frame_Shift_Del	DEL	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.M1228fs	ENST00000391901.3	37	c.3682		19																																																																																			ZNF541	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000118156		0.507	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	274	0.00	0	T	NM_032255		48025197	48025197	-1	no_errors	ENST00000314121	ensembl	human	known	69_37n	frame_shift_del	143	38.82	92	DEL	0.998	-
ZNF607	84775	genome.wustl.edu	37	19	38190323	38190323	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:38190323A>G	ENST00000355202.4	-	5	1304	c.709T>C	c.(709-711)Tat>Cat	p.Y237H	ZNF607_ENST00000395835.3_Missense_Mutation_p.Y236H|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AGTCGTCCATACACACTAAAG	0.428																																						dbGAP											0													74.0	75.0	75.0					19																	38190323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.709T>C	19.37:g.38190323A>G	ENSP00000347338:p.Tyr237His	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y237H	ENST00000355202.4	37	c.709	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091891	0.36952	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.14893	2.47;2.47	2.1	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06917	0.0176	N	0.21373	0.66	0.09310	N	1	P;B	0.49253	0.921;0.018	B;B	0.35813	0.211;0.006	T	0.30851	-0.9964	9	0.26408	T	0.33	.	3.2667	0.06868	0.2436:0.0:0.3714:0.3849	.	237;236	Q96SK3;F5H141	ZN607_HUMAN;.	H	237;236	ENSP00000347338:Y237H;ENSP00000438015:Y236H	ENSP00000347338:Y237H	Y	-	1	0	ZNF607	42882163	0.000000	0.05858	0.001000	0.08648	0.797000	0.45037	-3.343000	0.00504	-0.319000	0.08652	0.459000	0.35465	TAT	ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	172	0.00	0	A	NM_032689		38190323	38190323	-1	no_errors	ENST00000355202	ensembl	human	known	69_37n	missense	105	31.37	48	SNP	0.000	G
ZNF549	256051	genome.wustl.edu	37	19	58049574	58049574	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:58049574A>G	ENST00000376233.3	+	4	1383	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.K388R	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCATATACAAACAGTCACTT	0.423																																						dbGAP											0													61.0	60.0	61.0					19																	58049574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1202A>G	19.37:g.58049574A>G	ENSP00000365407:p.Lys401Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K401R	ENST00000376233.3	37	c.1202	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	A	7.097	0.573266	0.13623	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.12879	2.64;2.64	2.45	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.25332	0.735	0.09310	N	1	B;B	0.32245	0.361;0.051	B;B	0.26614	0.024;0.071	T	0.39522	-0.9610	9	0.13470	T	0.59	.	5.1603	0.15058	0.5593:0.0:0.4407:0.0	.	401;388	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	R	388;401	ENSP00000240719:K388R;ENSP00000365407:K401R	ENSP00000240719:K388R	K	+	2	0	ZNF549	62741386	0.000000	0.05858	0.002000	0.10522	0.979000	0.70002	-1.750000	0.01822	0.209000	0.20645	0.477000	0.44152	AAA	ZNF549	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121406		0.423	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	204	0.00	0	A	NM_153263		58049574	58049574	+1	no_errors	ENST00000376233	ensembl	human	known	69_37n	missense	108	31.21	49	SNP	0.001	G
ZNF622	90441	genome.wustl.edu	37	5	16453127	16453127	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr5:16453127C>T	ENST00000308683.2	-	5	1427	c.1301G>A	c.(1300-1302)aGc>aAc	p.S434N		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	434					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TGTACCTGTGCTGCCAGTCCA	0.483																																						dbGAP											0													67.0	69.0	68.0					5																	16453127		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1301G>A	5.37:g.16453127C>T	ENSP00000310042:p.Ser434Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.S434N	ENST00000308683.2	37	c.1301	CCDS3886.1	5	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148873	0.37923	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	5.7	0.88788	.	0.298556	0.41500	D	0.000862	T	0.43545	0.1252	M	0.66939	2.045	0.32115	N	0.588766	P	0.48230	0.907	B	0.38500	0.275	T	0.55730	-0.8095	9	0.17832	T	0.49	-12.7971	14.0506	0.64734	0.0:0.9259:0.0:0.0741	.	434	Q969S3	ZN622_HUMAN	N	434	.	ENSP00000310042:S434N	S	-	2	0	ZNF622	16506127	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.840000	0.55843	2.678000	0.91216	0.655000	0.94253	AGC	ZNF622	-	NULL	ENSG00000173545		0.483	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF622	HGNC	protein_coding	OTTHUMT00000207105.1	104	0.95	1	C	NM_033414		16453127	16453127	-1	no_errors	ENST00000308683	ensembl	human	known	69_37n	missense	78	41.79	56	SNP	1.000	T
ZNF668	79759	genome.wustl.edu	37	16	31072662	31072662	+	Silent	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:31072662C>T	ENST00000538906.1	-	3	2371	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	ZNF668_ENST00000300849.4_Silent_p.T529T|ZNF668_ENST00000426488.2_Silent_p.T552T|ZNF668_ENST00000539836.3_Silent_p.T552T|ZNF668_ENST00000535577.1_Silent_p.T529T|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000394983.2_Silent_p.T529T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GACGCAGCAGCGTCATTGTGG	0.667																																					Colon(181;1111 1980 5060 10512 25785)	dbGAP											0													45.0	47.0	46.0					16																	31072662		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1587G>A	16.37:g.31072662C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T552	ENST00000538906.1	37	c.1656	CCDS10701.1	16																																																																																			ZNF668	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167394		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	31	0.00	0	C	NM_024706		31072662	31072662	-1	no_errors	ENST00000426488	ensembl	human	known	69_37n	silent	19	38.71	12	SNP	0.010	T
ZNF646	9726	genome.wustl.edu	37	16	31091534	31091534	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:31091534C>T	ENST00000394979.2	+	1	4312	c.3889C>T	c.(3889-3891)Cgg>Tgg	p.R1297W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1297W			O15015	ZN646_HUMAN	zinc finger protein 646	1297					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCGGGAAGATCGGCCCTTCCG	0.706																																						dbGAP											0													22.0	24.0	23.0					16																	31091534		2196	4297	6493	-	-	-	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3889C>T	16.37:g.31091534C>T	ENSP00000378429:p.Arg1297Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1297W	ENST00000394979.2	37	c.3889		16	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386761	0.11524	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.34667	1.35;1.35	5.22	-1.92	0.07618	.	.	.	.	.	T	0.35278	0.0926	M	0.81239	2.535	0.21325	N	0.999723	B	0.21309	0.054	B	0.12156	0.007	T	0.42310	-0.9459	9	0.87932	D	0	-5.1031	5.0654	0.14580	0.2349:0.354:0.3431:0.068	.	1297	O15015-2	.	W	1297;1297;169	ENSP00000300850:R1297W;ENSP00000378429:R1297W	ENSP00000300850:R1297W	R	+	1	2	ZNF646	30999035	0.000000	0.05858	0.204000	0.23530	0.003000	0.03518	-0.376000	0.07465	-0.472000	0.06881	-0.305000	0.09177	CGG	ZNF646	-	NULL	ENSG00000167395		0.706	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	23	0.00	0	C	NM_014699		31091534	31091534	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	0.199	T
ZNF669	79862	genome.wustl.edu	37	1	247264139	247264139	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:247264139C>T	ENST00000343381.6	-	4	1104	c.932G>A	c.(931-933)tGt>tAt	p.C311Y	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.C225Y	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGTTTTCCCACATTCCTTACA	0.378																																						dbGAP											0													89.0	90.0	90.0					1																	247264139		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.932G>A	1.37:g.247264139C>T	ENSP00000342818:p.Cys311Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C311Y	ENST00000343381.6	37	c.932	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709580	0.48517	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	D;D	0.85861	-2.04;-2.04	0.544	0.544	0.17185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92609	0.7652	H	0.94771	3.58	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.992;0.995	D	0.90666	0.4594	9	0.87932	D	0	.	6.8866	0.24206	0.0:0.9999:0.0:1.0E-4	.	225;311	B3KP94;Q96BR6	.;ZN669_HUMAN	Y	225;225;311	ENSP00000404370:C225Y;ENSP00000342818:C311Y	ENSP00000342818:C311Y	C	-	2	0	ZNF669	245330762	1.000000	0.71417	0.222000	0.23844	0.150000	0.21749	5.276000	0.65580	0.543000	0.28864	0.289000	0.19496	TGT	ZNF669	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188295		0.378	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	245	0.00	0	C	NM_024804		247264139	247264139	-1	no_errors	ENST00000343381	ensembl	human	known	69_37n	missense	445	17.29	93	SNP	1.000	T
ZNF676	163223	genome.wustl.edu	37	19	22363639	22363639	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:22363639A>T	ENST00000397121.2	-	3	1197	c.880T>A	c.(880-882)Tca>Aca	p.S294T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATGAGCTTTGAGGACGAGTTG	0.433																																						dbGAP											0													101.0	105.0	103.0					19																	22363639		2155	4276	6431	-	-	-	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.880T>A	19.37:g.22363639A>T	ENSP00000380310:p.Ser294Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S294T	ENST00000397121.2	37	c.880	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	9.809	1.182754	0.21870	.	.	ENSG00000196109	ENST00000397121	T	0.07567	3.18	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07007	0.0178	L	0.46947	1.48	0.09310	N	1	P	0.48911	0.917	B	0.40329	0.326	T	0.32375	-0.9909	9	0.52906	T	0.07	.	5.2414	0.15473	0.5753:0.4247:0.0:0.0	.	294	Q8N7Q3	ZN676_HUMAN	T	294	ENSP00000380310:S294T	ENSP00000380310:S294T	S	-	1	0	ZNF676	22155479	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.202000	0.09451	0.166000	0.19597	0.164000	0.16699	TCA	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	222	0.00	0	A	NM_001001411		22363639	22363639	-1	no_errors	ENST00000397121	ensembl	human	known	69_37n	missense	157	32.03	74	SNP	0.000	T
ZNF687	57592	genome.wustl.edu	37	1	151260658	151260658	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr1:151260658C>T	ENST00000368879.2	+	2	1989	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTGGCCTTGCCTGCCTTGGG	0.642																																						dbGAP											0													58.0	53.0	55.0					1																	151260658		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1891C>T	1.37:g.151260658C>T	ENSP00000357874:p.Pro631Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P631S	ENST00000368879.2	37	c.1891		1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.569101	0.00895	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00882	5.58;5.58;5.93	5.26	2.24	0.28232	.	0.228496	0.22421	N	0.060288	T	0.00144	0.0004	N	0.01576	-0.805	0.19300	N	0.999978	B;B;B	0.18310	0.01;0.0;0.027	B;B;B	0.17722	0.007;0.001;0.019	T	0.19877	-1.0292	10	0.09590	T	0.72	.	9.7155	0.40272	0.0:0.5829:0.3342:0.0829	.	631;631;631	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	S	631	ENSP00000336620:P631S;ENSP00000319829:P631S;ENSP00000357874:P631S	ENSP00000319829:P631S	P	+	1	0	ZNF687	149527282	0.978000	0.34361	0.924000	0.36721	0.006000	0.05464	1.258000	0.32944	0.785000	0.33685	0.655000	0.94253	CCT	ZNF687	-	NULL	ENSG00000143373		0.642	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		36	0.00	0	C	NM_020832		151260658	151260658	+1	no_errors	ENST00000324048	ensembl	human	known	69_37n	missense	52	20.00	13	SNP	0.006	T
ZNF71	58491	genome.wustl.edu	37	19	57133284	57133284	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:57133284G>A	ENST00000328070.6	+	3	863	c.629G>A	c.(628-630)gGc>gAc	p.G210D		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGCACACGGGCGAGAAGCCG	0.657																																						dbGAP											0													46.0	40.0	42.0					19																	57133284		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.629G>A	19.37:g.57133284G>A	ENSP00000328245:p.Gly210Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G210D	ENST00000328070.6	37	c.629	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052734	0.55218	.	.	ENSG00000197951	ENST00000328070	T	0.26660	1.72	3.47	3.47	0.39725	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36220	0.0959	L	0.53729	1.69	0.27220	N	0.959698	D	0.60575	0.988	P	0.51487	0.671	T	0.20075	-1.0286	9	0.87932	D	0	.	13.9097	0.63860	0.0:0.0:1.0:0.0	.	210	Q9NQZ8	ZNF71_HUMAN	D	210	ENSP00000328245:G210D	ENSP00000328245:G210D	G	+	2	0	ZNF71	61825096	1.000000	0.71417	0.877000	0.34402	0.616000	0.37450	3.260000	0.51523	1.777000	0.52277	0.561000	0.74099	GGC	ZNF71	-	pfscan_Znf_C2H2	ENSG00000197951		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	39	0.00	0	G	NM_021216		57133284	57133284	+1	no_errors	ENST00000328070	ensembl	human	known	69_37n	missense	15	42.31	11	SNP	0.685	A
ZNF710	374655	genome.wustl.edu	37	15	90617350	90617350	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr15:90617350G>A	ENST00000268154.4	+	4	1904	c.1653G>A	c.(1651-1653)gtG>gtA	p.V551V	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGTTCTAGGTGTGCGGGAAGT	0.597																																						dbGAP											0													58.0	56.0	57.0					15																	90617350		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1653G>A	15.37:g.90617350G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V551	ENST00000268154.4	37	c.1653	CCDS10358.1	15																																																																																			ZNF710	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000140548		0.597	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	84	0.00	0	G	NM_198526		90617350	90617350	+1	no_errors	ENST00000268154	ensembl	human	known	69_37n	silent	49	28.99	20	SNP	1.000	A
ZNF737	100129842	genome.wustl.edu	37	19	20728293	20728293	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:20728293C>T	ENST00000427401.4	-	4	810	c.716G>A	c.(715-717)aGc>aAc	p.S239N		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGAAAACCGGCTAAAGGCTTT	0.428																																						dbGAP											0													41.0	39.0	40.0					19																	20728293		692	1591	2283	-	-	-	SO:0001583	missense	0			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.716G>A	19.37:g.20728293C>T	ENSP00000395733:p.Ser239Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHM3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S239N	ENST00000427401.4	37	c.716	CCDS54238.1	19	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.436575	0.00013	.	.	ENSG00000237440	ENST00000427401	T	0.35973	1.28	0.801	-1.6	0.08426	.	.	.	.	.	T	0.20981	0.0505	L	0.43646	1.37	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40979	-0.9534	9	0.02654	T	1	.	5.1239	0.14875	0.0:0.2631:0.0:0.7369	.	239	C9JHM3	.	N	239	ENSP00000395733:S239N	ENSP00000395733:S239N	S	-	2	0	ZNF737	20520133	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-4.876000	0.00175	-1.248000	0.02503	-1.250000	0.01514	AGC	ZNF737	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000237440		0.428	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	143	0.00	0	C	NM_145289		20728293	20728293	-1	no_errors	ENST00000427401	ensembl	human	known	69_37n	missense	78	32.76	38	SNP	0.000	T
ZNF780B	163131	genome.wustl.edu	37	19	40540903	40540903	+	Silent	SNP	G	G	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:40540903G>T	ENST00000434248.1	-	5	1928	c.1863C>A	c.(1861-1863)gcC>gcA	p.A621A	ZNF780B_ENST00000221355.6_Silent_p.A473A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAAGACTGAAGGCCTTGCCAC	0.413																																						dbGAP											0													118.0	124.0	122.0					19																	40540903		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1863C>A	19.37:g.40540903G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A621	ENST00000434248.1	37	c.1863	CCDS46077.1	19																																																																																			ZNF780B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128000		0.413	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF780B	HGNC	protein_coding	OTTHUMT00000338466.1	353	0.00	0	G	NM_001005851		40540903	40540903	-1	no_errors	ENST00000434248	ensembl	human	known	69_37n	silent	256	34.36	134	SNP	0.924	T
ZNF780A	284323	genome.wustl.edu	37	19	40581186	40581186	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:40581186G>A	ENST00000595687.2	-	6	1372	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	ZNF780A_ENST00000455521.1_Missense_Mutation_p.P389L|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.P389L|ZNF780A_ENST00000340963.5_Missense_Mutation_p.P388L|ZNF780A_ENST00000450241.2_Missense_Mutation_p.P354L|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAACGGTTTTTCACC	0.408																																						dbGAP											0													133.0	138.0	136.0					19																	40581186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1163C>T	19.37:g.40581186G>A	ENSP00000472189:p.Pro388Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB48|Q6ZN87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P389L	ENST00000595687.2	37	c.1166	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076919	0.55753	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.56444	0.46;0.46	1.61	1.61	0.23674	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69797	0.3151	M	0.83774	2.66	0.48452	D	0.999655	D;P	0.89917	1.0;0.703	D;B	0.83275	0.996;0.044	T	0.70809	-0.4771	9	0.62326	D	0.03	.	8.7169	0.34416	0.0:0.0:1.0:0.0	.	389;388	E9PB48;O75290	.;Z780A_HUMAN	L	388;389;388	ENSP00000400997:P389L;ENSP00000341507:P388L	ENSP00000341507:P388L	P	-	2	0	ZNF780A	45273026	0.961000	0.32948	0.001000	0.08648	0.016000	0.09150	5.484000	0.66844	0.846000	0.35142	0.305000	0.20034	CCG	ZNF780A	-	pfscan_Znf_C2H2	ENSG00000197782		0.408	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	354	0.00	0	G	NM_001010880		40581186	40581186	-1	no_errors	ENST00000455521	ensembl	human	known	69_37n	missense	226	36.77	132	SNP	0.986	A
ZNF786	136051	genome.wustl.edu	37	7	148767971	148767971	+	Silent	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:148767971G>A	ENST00000491431.1	-	4	1957	c.1893C>T	c.(1891-1893)cgC>cgT	p.R631R	ZNF786_ENST00000451334.3_Silent_p.R594R|ZNF786_ENST00000316286.9_Silent_p.R545R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGCCTTCACGCGATAGCGCT	0.617																																						dbGAP											0													51.0	54.0	53.0					7																	148767971		2174	4283	6457	-	-	-	SO:0001819	synonymous_variant	0			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1893C>T	7.37:g.148767971G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A568|B4DMI1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R631	ENST00000491431.1	37	c.1893	CCDS47738.1	7																																																																																			ZNF786	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197362		0.617	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF786	HGNC	protein_coding	OTTHUMT00000352751.1	63	0.00	0	G	NM_152411		148767971	148767971	-1	no_errors	ENST00000491431	ensembl	human	known	69_37n	silent	47	38.96	30	SNP	0.000	A
ZNF793	390927	genome.wustl.edu	37	19	38028415	38028415	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:38028415delT	ENST00000587143.1	+	6	1090	c.855delT	c.(853-855)tgtfs	p.C285fs	ZNF793_ENST00000445217.1_Frame_Shift_Del_p.C285fs|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Frame_Shift_Del_p.C285fs|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C288fs*113(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTGAATGTTTTTTTTGTG	0.463																																					Melanoma(44;400 1431 1499 19093)	dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)											60.0	69.0	66.0					19																	38028415		2142	4276	6418	-	-	-	SO:0001589	frameshift_variant	0			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.855delT	19.37:g.38028415delT	ENSP00000468605:p.Cys285fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGN4|Q7Z3Q9	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C288fs	ENST00000587143.1	37	c.855	CCDS46062.1	19																																																																																			ZNF793	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188227		0.463	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	293	0.00	0	T	NM_001013659		38028415	38028415	+1	no_errors	ENST00000445217	ensembl	human	known	69_37n	frame_shift_del	184	37.07	109	DEL	0.222	-
ZNF800	168850	genome.wustl.edu	37	7	127013702	127013702	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr7:127013702delT	ENST00000393313.1	-	5	2279	c.1688delA	c.(1687-1689)aagfs	p.K563fs	ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K563fs|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K563fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATCAATAGGCTTTTTTATAGC	0.373																																						dbGAP											0													78.0	81.0	80.0					7																	127013702		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1688delA	7.37:g.127013702delT	ENSP00000376989:p.Lys563fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBN0	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K563fs	ENST00000393313.1	37	c.1688	CCDS5795.1	7																																																																																			ZNF800	-	NULL	ENSG00000048405		0.373	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	211	0.00	0	T	NM_176814		127013702	127013702	-1	no_errors	ENST00000265827	ensembl	human	known	69_37n	frame_shift_del	162	36.92	96	DEL	1.000	-
ZNF821	55565	genome.wustl.edu	37	16	71894267	71894267	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr16:71894267A>G	ENST00000565601.1	-	7	1300	c.893T>C	c.(892-894)aTg>aCg	p.M298T	ZNF821_ENST00000313565.6_Missense_Mutation_p.M256T|ZNF821_ENST00000446827.2_Missense_Mutation_p.M256T|ZNF821_ENST00000425432.1_Missense_Mutation_p.M298T|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ACGGTCCCTCATGCGCCTCAC	0.677																																						dbGAP											0													41.0	40.0	40.0					16																	71894267		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.893T>C	16.37:g.71894267A>G	ENSP00000455648:p.Met298Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M298T	ENST00000565601.1	37	c.893	CCDS56006.1	16	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246846	0.59103	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01430	6.5;4.9;4.9	5.97	5.97	0.96955	.	0.043149	0.85682	D	0.000000	T	0.02267	0.0070	L	0.47190	1.495	0.58432	D	0.999995	P;P;P	0.44090	0.826;0.73;0.826	B;B;B	0.38020	0.258;0.263;0.258	T	0.59247	-0.7490	10	0.66056	D	0.02	-12.3872	16.4454	0.83928	1.0:0.0:0.0:0.0	.	298;256;298	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	T	298;256;256	ENSP00000398089:M298T;ENSP00000313822:M256T;ENSP00000405908:M256T	ENSP00000313822:M256T	M	-	2	0	ZNF821	70451768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.687000	0.91255	2.275000	0.75901	0.533000	0.62120	ATG	ZNF821	-	NULL	ENSG00000102984		0.677	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1	49	0.00	0	A	NM_017530		71894267	71894267	-1	no_errors	ENST00000425432	ensembl	human	known	69_37n	missense	29	40.00	20	SNP	1.000	G
ZNF876P	642280	genome.wustl.edu	37	4	247819	247819	+	RNA	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr4:247819G>A	ENST00000356347.3	+	0	643					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTGAAGAACGTGTCAGAATC	0.388																																						dbGAP											0																																										-	-	-			0			BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.247819G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000356347.3	37	NULL		4																																																																																			ZNF876P	-	-	ENSG00000198155		0.388	ZNF876P-001	KNOWN	basic	processed_transcript	ZNF876P	HGNC	pseudogene	OTTHUMT00000357870.2	37	0.00	0	G	NR_027481		247819	247819	+1	no_errors	ENST00000356347	ensembl	human	known	69_37n	rna	23	23.33	7	SNP	0.977	A
ZNFX1	57169	genome.wustl.edu	37	20	47870291	47870291	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:47870291T>C	ENST00000396105.1	-	11	3263	c.3017A>G	c.(3016-3018)gAa>gGa	p.E1006G	ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1006G|ZNFX1_ENST00000371754.4_Missense_Mutation_p.E1006G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1006							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGCAGCTTCTTCCACTATGAC	0.522																																						dbGAP											0													263.0	240.0	248.0					20																	47870291		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3017A>G	20.37:g.47870291T>C	ENSP00000379412:p.Glu1006Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.E1006G	ENST00000396105.1	37	c.3017	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	T	25.2	4.618493	0.87359	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	D;D;D	0.82344	-1.6;-1.6;-1.6	5.94	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93353	0.6720	10	0.87932	D	0	-16.6362	10.8255	0.46629	0.0:0.0742:0.0:0.9258	.	1006	Q9P2E3	ZNFX1_HUMAN	G	1006	ENSP00000360819:E1006G;ENSP00000360817:E1006G;ENSP00000379412:E1006G	ENSP00000360817:E1006G	E	-	2	0	ZNFX1	47303698	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.936000	0.87665	1.078000	0.41014	0.459000	0.35465	GAA	ZNFX1	-	NULL	ENSG00000124201		0.522	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	284	0.00	0	T	NM_021035		47870291	47870291	-1	no_errors	ENST00000371752	ensembl	human	known	69_37n	missense	210	37.31	125	SNP	1.000	C
ZSCAN12	9753	genome.wustl.edu	37	6	28358850	28358850	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr6:28358850C>T	ENST00000361028.1	-	4	1362	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZSCAN12_ENST00000396827.3_Missense_Mutation_p.G406E			O43309	ZSC12_HUMAN	zinc finger and SCAN domain containing 12	406					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|urinary_tract(1)	6						GGTATGAACTCCTTGATGCTG	0.433																																						dbGAP											0													77.0	61.0	66.0					6																	28358850		692	1591	2283	-	-	-	SO:0001583	missense	0			AB007886		6p21	2013-01-08	2007-02-20	2007-02-20	ENSG00000158691	ENSG00000158691		"""-"", ""Zinc fingers, C2H2-type"""	13172	protein-coding gene	gene with protein product		603978	"""zinc finger protein 305"", ""zinc finger protein 96"""	ZNF305, ZNF96		9244436	Standard	NM_001163391		Approved	KIAA0426, ZNF29K1, ZFP96, dJ29K1.2	uc011dlh.2	O43309	OTTHUMG00000014522	ENST00000361028.1:c.1217G>A	6.37:g.28358850C>T	ENSP00000354305:p.Gly406Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43724	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G406E	ENST00000361028.1	37	c.1217		6	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421956	0.43020	.	.	ENSG00000158691	ENST00000361028;ENST00000396827	T;T	0.18174	2.23;2.23	3.76	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33110	N	0.005268	T	0.06872	0.0175	N	0.13043	0.29	0.09310	N	0.999995	D;B	0.57257	0.979;0.129	P;B	0.57846	0.828;0.07	T	0.09122	-1.0689	10	0.56958	D	0.05	.	3.724	0.08467	0.0:0.5613:0.2096:0.229	.	406;406	A8K187;O43309	.;ZSC12_HUMAN	E	406	ENSP00000354305:G406E;ENSP00000380039:G406E	ENSP00000354305:G406E	G	-	2	0	ZSCAN12	28466829	0.000000	0.05858	0.959000	0.39883	0.894000	0.52154	-0.021000	0.12504	0.779000	0.33543	0.650000	0.86243	GGA	ZSCAN12	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000158691		0.433	ZSCAN12-001	KNOWN	basic|appris_principal	protein_coding	ZSCAN12	HGNC	protein_coding	OTTHUMT00000040190.1	167	0.00	0	C	NM_014724		28358850	28358850	-1	no_errors	ENST00000361028	ensembl	human	known	69_37n	missense	93	42.94	70	SNP	0.277	T
ZSWIM1	90204	genome.wustl.edu	37	20	44512102	44512102	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr20:44512102G>A	ENST00000372523.1	+	2	966	c.871G>A	c.(871-873)Gca>Aca	p.A291T	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.A291T	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	291						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCAGAACTCTGCAGACAAGGC	0.537																																						dbGAP											0													112.0	106.0	108.0					20																	44512102		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.871G>A	20.37:g.44512102G>A	ENSP00000361601:p.Ala291Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.A291T	ENST00000372523.1	37	c.871	CCDS13382.2	20	.	.	.	.	.	.	.	.	.	.	G	2.463	-0.323685	0.05350	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.23147	1.92;1.92	5.03	3.05	0.35203	.	1.827040	0.03417	U	0.205760	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.27571	-1.0070	10	0.14656	T	0.56	-6.2862	4.6934	0.12791	0.0793:0.2562:0.5198:0.1448	.	291	Q9BR11	ZSWM1_HUMAN	T	291	ENSP00000361601:A291T;ENSP00000361598:A291T	ENSP00000361598:A291T	A	+	1	0	ZSWIM1	43945509	0.007000	0.16637	0.086000	0.20670	0.780000	0.44128	1.076000	0.30729	0.676000	0.31285	0.655000	0.94253	GCA	ZSWIM1	-	NULL	ENSG00000168612		0.537	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM1	HGNC	protein_coding	OTTHUMT00000157064.2	116	0.00	0	G	NM_080603		44512102	44512102	+1	no_errors	ENST00000372520	ensembl	human	known	69_37n	missense	69	40.52	47	SNP	0.001	A
ZSWIM4	65249	genome.wustl.edu	37	19	13936462	13936462	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18G-01A-11D-A12B-09	TCGA-BH-A18G-10A-01D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5f080655-65bd-42af-8cde-15dc2d255f3c	fdeda5fc-8cdb-45d8-bd01-1caa1c068af0	g.chr19:13936462G>A	ENST00000254323.2	+	11	2152	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A489T	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	655							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGCAAGACAGCCACCCCGGT	0.667																																						dbGAP											0													50.0	52.0	51.0					19																	13936462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1963G>A	19.37:g.13936462G>A	ENSP00000254323:p.Ala655Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfscan_Znf_SWIM	p.A655T	ENST00000254323.2	37	c.1963	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886855	0.91814	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.59906	0.23;0.23	4.23	4.23	0.50019	.	0.249526	0.25971	N	0.027129	T	0.73418	0.3584	M	0.69523	2.12	0.43313	D	0.995327	D;D	0.71674	0.994;0.998	D;D	0.74023	0.91;0.982	T	0.77400	-0.2602	10	0.87932	D	0	-18.1201	14.1238	0.65208	0.0:0.0:1.0:0.0	.	489;655	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	T	655;489	ENSP00000254323:A655T;ENSP00000405278:A489T	ENSP00000254323:A655T	A	+	1	0	ZSWIM4	13797462	1.000000	0.71417	0.984000	0.44739	0.935000	0.57460	7.170000	0.77587	2.177000	0.69029	0.591000	0.81541	GCC	ZSWIM4	-	NULL	ENSG00000132003		0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	33	0.00	0	G	XM_031342		13936462	13936462	+1	no_errors	ENST00000254323	ensembl	human	known	69_37n	missense	19	54.76	23	SNP	0.994	A
