#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA7	10347	genome.wustl.edu	37	19	1063796	1063796	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:1063796G>A	ENST00000263094.6	+	44	6116	c.5885G>A	c.(5884-5886)cGc>cAc	p.R1962H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R1962H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R1824H|HMHA1_ENST00000539243.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1962	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGCGCGCGGCGCTTCCTTTGG	0.672																																																	0													26.0	26.0	26.0					19																	1063796		2090	4124	6214	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5885G>A	19.37:g.1063796G>A	ENSP00000263094:p.Arg1962His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1962H	ENST00000263094.6	37	c.5885	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940842	0.52972	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97328	-4.34;-4.34	3.39	2.3	0.28687	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.95452	0.8523	L	0.50993	1.605	0.37848	D	0.929293	P;D	0.60575	0.944;0.988	P;P	0.48552	0.57;0.581	D	0.95290	0.8394	9	0.87932	D	0	.	9.6693	0.40002	0.1117:0.0:0.8883:0.0	.	1087;1962	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	H	1962	ENSP00000263094:R1962H;ENSP00000414062:R1962H	ENSP00000263094:R1962H	R	+	2	0	ABCA7	1014796	0.997000	0.39634	0.925000	0.36789	0.107000	0.19398	7.342000	0.79310	1.749000	0.51849	0.313000	0.20887	CGC	ABCA7	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.672	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1063796	+1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCB8	11194	genome.wustl.edu	37	7	150730740	150730740	+	Silent	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:150730740C>T	ENST00000297504.6	+	3	261	c.195C>T	c.(193-195)caC>caT	p.H65H	ABCB8_ENST00000356058.4_Silent_p.H85H|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000498578.1_Silent_p.H48H|ABCB8_ENST00000358849.4_Silent_p.H48H|ABCB8_ENST00000477719.1_Silent_p.H48H|ABCB8_ENST00000477092.1_Silent_p.H48H|ABCB8_ENST00000542328.1_Intron			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	65					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCGTGGCCCACCTGCGGTCCC	0.682																																																	0													42.0	45.0	44.0					7																	150730740		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.195C>T	7.37:g.150730740C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	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.H65	ENST00000297504.6	37	c.195		7																																																																																			ABCB8	-	NULL		0.682	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	C	NM_007188		150730740	+1	no_errors	ENST00000297504	ensembl	human	known	70_37	silent	SNP	0.854	T
ABRACL	58527	genome.wustl.edu	37	6	139355412	139355412	+	Intron	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:139355412G>A	ENST00000367660.3	+	2	261				ABRACL_ENST00000461027.1_Missense_Mutation_p.E39K	NM_021243.2	NP_067066.1	Q9P1F3	ABRAL_HUMAN	ABRA C-terminal like																		TGGAACAGGTGAGACTGGCAT	0.502																																																	0													77.0	62.0	66.0					6																	139355412		692	1591	2283	SO:0001627	intron_variant	58527			BC014953	CCDS43509.1	6q24.1	2012-03-05	2012-03-05	2012-03-05	ENSG00000146386	ENSG00000146386			21230	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 115"""	C6orf115		21082705	Standard	NM_021243		Approved	PRO2013, HSPC280, Costars	uc003qil.2	Q9P1F3	OTTHUMG00000015684	ENST00000367660.3:c.61+54G>A	6.37:g.139355412G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZC8|Q9P0A1	Missense_Mutation	SNP	NULL	p.E39K	ENST00000367660.3	37	c.115	CCDS43509.1	6	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250587	0.22880	.	.	ENSG00000146386	ENST00000461027	.	.	.	5.2	-0.213	0.13165	.	.	.	.	.	T	0.08179	0.0204	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34625	-0.9821	4	.	.	.	.	2.785	0.05371	0.4932:0.0:0.1869:0.3198	.	.	.	.	K	39	.	.	E	+	1	0	C6orf115	139397105	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.886000	0.28241	0.106000	0.17784	-0.312000	0.09012	GAG	ABRACL	-	NULL		0.502	ABRACL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRACL	HGNC	protein_coding	OTTHUMT00000042445.1	G	NM_021243		139355412	+1	no_errors	ENST00000461027	ensembl	human	known	70_37	missense	SNP	0.000	A
ACHE	43	genome.wustl.edu	37	7	100490160	100490160	+	Missense_Mutation	SNP	C	C	T	rs535618245		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:100490160C>T	ENST00000412389.1	-	2	1503	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	ACHE_ENST00000302913.4_Missense_Mutation_p.A450T|ACHE_ENST00000241069.5_Missense_Mutation_p.A450T|ACHE_ENST00000411582.1_Missense_Mutation_p.A450T|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000419336.2_Missense_Mutation_p.A362T|ACHE_ENST00000428317.1_Missense_Mutation_p.A450T			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	450					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCCTGGGCAGCCAGTCGCCCA	0.687																																																	0													32.0	36.0	35.0					7																	100490160		2203	4299	6502	SO:0001583	missense	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1348G>A	7.37:g.100490160C>T	ENSP00000394976:p.Ala450Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.A450T	ENST00000412389.1	37	c.1348	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865790	0.51588	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	3.92	3.92	0.45320	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.42744	1.35	0.54753	D	0.999988	D;P;P	0.71674	0.998;0.911;0.558	D;B;B	0.76575	0.988;0.256;0.242	T	0.17653	-1.0362	10	0.45353	T	0.12	.	13.7912	0.63143	0.0:1.0:0.0:0.0	.	362;450;450	P22303-3;P22303-2;P22303	.;.;ACES_HUMAN	T	362;450;450;450;450;450;450	ENSP00000403474:A362T;ENSP00000241069:A450T;ENSP00000414858:A450T;ENSP00000303211:A450T;ENSP00000394976:A450T;ENSP00000404865:A450T	ENSP00000241069:A450T	A	-	1	0	ACHE	100328096	0.981000	0.34729	0.997000	0.53966	0.940000	0.58332	4.152000	0.58111	2.202000	0.70862	0.491000	0.48974	GCT	ACHE	-	pfam_CarbesteraseB		0.687	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	C	NM_015831		100490160	-1	no_errors	ENST00000302913	ensembl	human	known	70_37	missense	SNP	1.000	T
PXYLP1	92370	genome.wustl.edu	37	3	141011882	141011882	+	Silent	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:141011882C>T	ENST00000286353.4	+	6	1415	c.1278C>T	c.(1276-1278)gtC>gtT	p.V426V	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Silent_p.V409V|ACPL2_ENST00000393007.1_Silent_p.V410V|ACPL2_ENST00000393010.2_Silent_p.V426V|ACPL2_ENST00000508812.1_Silent_p.V417V|ACPL2_ENST00000502783.1_Silent_p.V388V	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		426						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ACAATGGCGTCGATGTCACAT	0.507																																																	0													134.0	128.0	130.0					3																	141011882		2203	4300	6503	SO:0001819	synonymous_variant	92370																														ENST00000286353.4:c.1278C>T	3.37:g.141011882C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNF5|Q49AJ2|W0TR04	Silent	SNP	pfam_His_Pase_superF_clade-2	p.V426	ENST00000286353.4	37	c.1278	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	C	7.065	0.567160	0.13560	.	.	ENSG00000155893	ENST00000332228	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55636	-0.8110	5	0.30078	T	0.28	.	6.7755	0.23617	0.0752:0.0864:0.3915:0.4469	.	.	.	.	L	222	.	ENSP00000327587:S222L	S	+	2	0	ACPL2	142494572	0.000000	0.05858	0.000000	0.03702	0.977000	0.68977	-2.787000	0.00769	-2.295000	0.00662	-0.345000	0.07892	TCG	ACPL2	-	NULL		0.507	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	C			141011882	+1	no_errors	ENST00000286353	ensembl	human	known	70_37	silent	SNP	0.007	T
ADAMTS10	81794	genome.wustl.edu	37	19	8649802	8649802	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:8649802delG	ENST00000597188.1	-	25	3449	c.3179delC	c.(3178-3180)ccafs	p.P1060fs	ADAMTS10_ENST00000595838.1_Frame_Shift_Del_p.P547fs|ADAMTS10_ENST00000270328.4_Frame_Shift_Del_p.P1060fs|AC130469.2_ENST00000597256.1_RNA	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	1060						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCCGGGGGTTGGGCTGTCGCA	0.711																																																	0													5.0	5.0	5.0					19																	8649802		1841	3435	5276	SO:0001589	frameshift_variant	81794			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.3179delC	19.37:g.8649802delG	ENSP00000471851:p.Pro1060fs	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QZE4	Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1060fs	ENST00000597188.1	37	c.3179	CCDS12206.1	19																																																																																			ADAMTS10	-	NULL		0.711	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	G	NM_030957		8649802	-1	no_errors	ENST00000270328	ensembl	human	known	70_37	frame_shift_del	DEL	0.030	-
ADAMTSL3	57188	genome.wustl.edu	37	15	84657473	84657473	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:84657473G>A	ENST00000286744.5	+	22	3971	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	AC027807.1_ENST00000408557.1_RNA|ADAMTSL3_ENST00000567476.1_Silent_p.Q1249Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1249	Ig-like C2-type 2.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAGATACAGATACAGAATC	0.378																																																	0													123.0	119.0	120.0					15																	84657473		2203	4300	6503	SO:0001819	synonymous_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3747G>A	15.37:g.84657473G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A566|A1A567|Q9ULI7	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.Q1249	ENST00000286744.5	37	c.3747	CCDS10326.1	15																																																																																			ADAMTSL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.378	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84657473	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	silent	SNP	1.000	A
AFG3L1P	172	genome.wustl.edu	37	16	90060285	90060285	+	RNA	SNP	C	C	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:90060285C>A	ENST00000437774.1	+	0	1187					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		TGGCAGTGCTCACCCCAGGCT	0.602																																																	0													42.0	39.0	40.0					16																	90060285		692	1591	2283			172			AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90060285C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000437774.1	37	NULL		16																																																																																			AFG3L1P	-	-		0.602	AFG3L1P-004	KNOWN	basic	processed_transcript	AFG3L1P	HGNC	pseudogene	OTTHUMT00000316791.1	C	NR_003226		90060285	+1	no_errors	ENST00000388970	ensembl	human	known	70_37	rna	SNP	0.029	A
AIDA	64853	genome.wustl.edu	37	1	222885352	222885352	+	Intron	SNP	G	G	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:222885352G>C	ENST00000340020.6	-	1	317				AIDA_ENST00000355727.2_Intron|AIDA_ENST00000474863.1_5'UTR|BROX_ENST00000537020.1_5'Flank|BROX_ENST00000340934.5_5'Flank|BROX_ENST00000539697.1_5'Flank|AIDA_ENST00000541237.1_Intron	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated						dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)				kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						AAGAAGGCGAGTCACCCCAGA	0.647																																																	0																																										SO:0001627	intron_variant	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.110+197C>G	1.37:g.222885352G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	RNA	SNP	-	NULL	ENST00000340020.6	37	NULL	CCDS1533.1	1																																																																																			AIDA	-	-		0.647	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	G	NM_022831		222885352	-1	no_errors	ENST00000474863	ensembl	human	known	70_37	rna	SNP	0.000	C
ALOX5	240	genome.wustl.edu	37	10	45924114	45924114	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:45924114G>A	ENST00000374391.2	+	7	936	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	ALOX5_ENST00000542434.1_Missense_Mutation_p.A295T	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	295	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGGCATCGATGCCAACAAAAC	0.527																																																	0													117.0	101.0	106.0					10																	45924114		2203	4300	6503	SO:0001583	missense	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.883G>A	10.37:g.45924114G>A	ENSP00000363512:p.Ala295Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	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.A295T	ENST00000374391.2	37	c.883	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189454	0.38707	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	T;T	0.78126	-1.15;-1.15	5.28	4.36	0.52297	Lipoxygenase, C-terminal (3);	0.307233	0.33712	N	0.004624	T	0.62563	0.2438	L	0.28776	0.89	0.47037	D	0.999292	P;P;P	0.42993	0.554;0.751;0.797	B;B;B	0.37731	0.23;0.257;0.23	T	0.61549	-0.7040	10	0.07175	T	0.84	-19.7763	13.8269	0.63357	0.0:0.1541:0.8459:0.0	.	295;295;295	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	T	295	ENSP00000437634:A295T;ENSP00000363512:A295T	ENSP00000363512:A295T	A	+	1	0	ALOX5	45244120	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.271000	0.51608	1.197000	0.43143	0.655000	0.94253	GCC	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C		0.527	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	G			45924114	+1	no_errors	ENST00000374391	ensembl	human	known	70_37	missense	SNP	0.994	A
EIF4EBP3	8637	genome.wustl.edu	37	5	139928631	139928631	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr5:139928631A>G	ENST00000310331.2	+	2	316	c.244A>G	c.(244-246)Aag>Gag	p.K82E	SRA1_ENST00000520427.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E2607G|ANKHD1_ENST00000297183.6_Missense_Mutation_p.E2607G	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3	82					negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGCTGAAGGAGCAGGA	0.567																																																	0													40.0	42.0	42.0					5																	139928631		2203	4300	6503	SO:0001583	missense	54882			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498	ENST00000310331.2:c.244A>G	5.37:g.139928631A>G	ENSP00000308472:p.Lys82Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		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.E2607G	ENST00000310331.2	37	c.7820	CCDS4226.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.69|19.69	3.873853|3.873853	0.72180|0.72180	.|.	.|.	ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000243056	ENST00000297183;ENST00000532219;ENST00000437495|ENST00000310331	T;T;T|.	0.72282|.	-0.64;-0.64;0.63|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	T|T	0.36853|0.36853	0.0982|0.0982	N|N	0.12637|0.12637	0.245|0.245	0.49687|0.49687	D|D	0.999811|0.999811	B|P	0.17667|0.41784	0.023|0.762	B|B	0.14023|0.42245	0.01|0.381	T|T	0.21415|0.21415	-1.0246|-1.0246	8|7	.|.	.|.	.|.	.|.	12.9688|12.9688	0.58501|0.58501	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2607|82	Q8IWZ2|O60516	.|4EBP3_HUMAN	G|E	2607;2607;626|82	ENSP00000297183:E2607G;ENSP00000432016:E2607G;ENSP00000396882:E626G|.	.|.	E|K	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|EIF4EBP3	139908815|139908815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.267000|6.267000	0.72546|0.72546	2.091000|2.091000	0.63221|0.63221	0.533000|0.533000	0.62120|0.62120	GAA|AAG	ANKHD1	-	NULL		0.567	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251668.2	A	NM_003732		139928631	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD18A	253650	genome.wustl.edu	37	9	38620249	38620249	+	Missense_Mutation	SNP	C	C	T	rs549510583	byFrequency	TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr9:38620249C>T	ENST00000399703.5	-	1	408	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	FAM201A_ENST00000484285.2_RNA|FAM201A_ENST00000377680.3_RNA|FAM201A_ENST00000471864.1_RNA	NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	12										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						AGCGCCTGGCCCAGGCGTCTC	0.647																																																	0													37.0	43.0	41.0					9																	38620249		692	1591	2283	SO:0001583	missense	253650			AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.34G>A	9.37:g.38620249C>T	ENSP00000382610:p.Gly12Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G12S	ENST00000399703.5	37	c.34	CCDS55311.1	9	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843893	0.51164	.	.	ENSG00000180071	ENST00000399703	T	0.29655	1.56	1.34	0.386	0.16254	.	.	.	.	.	T	0.19485	0.0468	L	0.55743	1.74	0.09310	N	0.999993	P	0.40578	0.722	B	0.30943	0.122	T	0.14868	-1.0457	9	0.22109	T	0.4	.	4.762	0.13113	0.3647:0.6353:0.0:0.0	.	12	Q8IVF6	AN18A_HUMAN	S	12	ENSP00000382610:G12S	ENSP00000382610:G12S	G	-	1	0	ANKRD18A	38610249	0.030000	0.19436	0.003000	0.11579	0.013000	0.08279	0.484000	0.22308	0.120000	0.18254	-0.485000	0.04761	GGC	ANKRD18A	-	NULL		0.647	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD18A	HGNC	protein_coding	OTTHUMT00000052506.3	C			38620249	-1	no_errors	ENST00000399703	ensembl	human	known	70_37	missense	SNP	0.003	T
ARHGAP17	55114	genome.wustl.edu	37	16	24942596	24942596	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:24942596G>A	ENST00000289968.6	-	19	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P597L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	675	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGAGGAGAGGGGCTTCGGGT	0.662																																																	0													47.0	58.0	54.0					16																	24942596		2197	4300	6497	SO:0001583	missense	55114			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2024C>T	16.37:g.24942596G>A	ENSP00000289968:p.Pro675Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P675L	ENST00000289968.6	37	c.2024	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096920	0.56075	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.22134	1.97;2.06	5.27	5.27	0.74061	.	0.000000	0.44097	D	0.000493	T	0.33731	0.0873	M	0.62723	1.935	0.80722	D	1	P;B;P;D	0.54207	0.557;0.421;0.728;0.965	B;B;P;P	0.51016	0.295;0.154;0.447;0.656	T	0.02450	-1.1157	10	0.33940	T	0.23	.	16.3735	0.83374	0.0:0.0:1.0:0.0	.	597;675;208;508	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9	.;RHG17_HUMAN;.;.	L	675;597;675	ENSP00000289968:P675L;ENSP00000303130:P597L	ENSP00000289968:P675L	P	-	2	0	ARHGAP17	24850097	1.000000	0.71417	0.477000	0.27303	0.991000	0.79684	3.100000	0.50275	2.449000	0.82847	0.462000	0.41574	CCC	ARHGAP17	-	NULL		0.662	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	G	NM_018054		24942596	-1	no_errors	ENST00000289968	ensembl	human	known	70_37	missense	SNP	0.993	A
ARHGAP9	64333	genome.wustl.edu	37	12	57867943	57867943	+	Silent	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr12:57867943C>T	ENST00000356411.2	-	16	1995	c.1857G>A	c.(1855-1857)ttG>ttA	p.L619L	ARHGAP9_ENST00000393791.3_Silent_p.L600L|ARHGAP9_ENST00000550288.1_Silent_p.L679L|ARHGAP9_ENST00000393797.2_Silent_p.L690L|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Silent_p.L600L|ARHGAP9_ENST00000430041.2_Silent_p.L416L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	619	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGTACTGTCCAAATCTAACC	0.537																																																	0													46.0	50.0	49.0					12																	57867943		2203	4300	6503	SO:0001819	synonymous_variant	64333			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1857G>A	12.37:g.57867943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.L619	ENST00000356411.2	37	c.1857		12																																																																																			ARHGAP9	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.537	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		C	NM_032496		57867943	-1	no_errors	ENST00000356411	ensembl	human	known	70_37	silent	SNP	1.000	T
BHLHE22	27319	genome.wustl.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs71561231|rs34265378|rs62519836|rs564889045	byFrequency	TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718																																					Colon(113;104 1586 2865 9855 18065)												1	Deletion - In frame(1)	central_nervous_system(1)																																								SO:0001652	inframe_insertion	27319			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.701_703dupGCA	8.37:g.65494027_65494029dupGCA	ENSP00000318799:p.Ser234_Ser234dup	Somatic		WXS	Illumina HiSeq	Phase_IV		In_Frame_Ins	INS	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.229in_frame_insS	ENST00000321870.1	37	c.673_674	CCDS6179.1	8																																																																																			BHLHE22	-	NULL		0.718	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1	-	NM_152414		65494021	+1	no_errors	ENST00000321870	ensembl	human	known	70_37	in_frame_ins	INS	0.719:0.703	GCA
BRSK2	9024	genome.wustl.edu	37	11	1471062	1471062	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:1471062C>A	ENST00000528841.1	+	13	1667	c.1283C>A	c.(1282-1284)cCc>cAc	p.P428H	BRSK2_ENST00000382179.1_Missense_Mutation_p.P474H|BRSK2_ENST00000308230.5_Missense_Mutation_p.P450H|BRSK2_ENST00000544817.1_Missense_Mutation_p.P123H|BRSK2_ENST00000531197.1_Missense_Mutation_p.P428H|BRSK2_ENST00000528710.1_Missense_Mutation_p.P368H|BRSK2_ENST00000526678.1_Missense_Mutation_p.P450H|BRSK2_ENST00000308219.9_Missense_Mutation_p.P428H			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	428	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CTCAGCAGCCCCCGGGTGAGT	0.701																																																	0													49.0	57.0	55.0					11																	1471062		1970	4152	6122	SO:0001583	missense	9024			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1283C>A	11.37:g.1471062C>A	ENSP00000432000:p.Pro428His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	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.P474H	ENST00000528841.1	37	c.1421	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872431	0.72180	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	4.11	2.2	0.27929	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.66086	0.2754	M	0.67953	2.075	0.52099	D	0.999945	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.912;0.996;0.926;0.992	T	0.66575	-0.5889	10	0.87932	D	0	.	8.9896	0.36014	0.0:0.8135:0.0:0.1865	.	450;474;428;428;428	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	H	428;428;450;428;450;368;474;123	ENSP00000310697:P428H;ENSP00000431152:P428H;ENSP00000310805:P450H;ENSP00000432000:P428H;ENSP00000433370:P450H;ENSP00000433235:P368H;ENSP00000371614:P474H;ENSP00000445168:P123H	ENSP00000310697:P428H	P	+	2	0	BRSK2	1427638	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	7.379000	0.79691	0.717000	0.32145	0.297000	0.19635	CCC	BRSK2	-	superfamily_Kinase-like_dom		0.701	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	C	NM_003957		1471062	+1	no_errors	ENST00000382179	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN3	825	genome.wustl.edu	37	15	42695076	42695076	+	Missense_Mutation	SNP	C	C	T	rs142004418		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:42695076C>T	ENST00000397163.3	+	13	1840	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	CAPN3_ENST00000569136.1_5'Flank|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000357568.3_Missense_Mutation_p.R541W|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000356316.3_Missense_Mutation_p.R454W|CAPN3_ENST00000349748.3_Missense_Mutation_p.R493W|CAPN3_ENST00000318023.7_Missense_Mutation_p.R541W|CAPN3_ENST00000397200.4_Missense_Mutation_p.R29W|CAPN3_ENST00000561817.1_5'Flank	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	541	Domain III.		R -> Q (in LGMD2A).		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATCAACATGCGGGAGGTGTC	0.597																																																	0			GRCh37	CM040390	CAPN3	M	rs142004418	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	128.0	101.0	110.0		1621,1621,1477,85	4.9	1.0	15	dbSNP_134	110	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1	101,101,101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	541/822,541/816,493/730,29/310	42695076	1,13003	2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1621C>T	15.37:g.42695076C>T	ENSP00000380349:p.Arg541Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R541W	ENST00000397163.3	37	c.1621	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308223	0.81247	0.0	1.16E-4	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.64402	U	0.000001	D	0.96673	0.8914	H	0.96889	3.9	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	0.97110	1.0;0.998;1.0;0.998;0.999;0.999	D	0.97213	0.9872	10	0.87932	D	0	.	12.0959	0.53755	0.295:0.7049:0.0:0.0	.	406;454;493;541;541;454	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	W	454;29;541;541;493;541;29	ENSP00000348667:R454W;ENSP00000380349:R541W;ENSP00000350181:R541W;ENSP00000183936:R493W;ENSP00000326281:R541W;ENSP00000380384:R29W	ENSP00000326281:R541W	R	+	1	2	CAPN3	40482368	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.527000	0.60573	2.527000	0.85204	0.455000	0.32223	CGG	CAPN3	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.597	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	C			42695076	+1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	T
CBR1	873	genome.wustl.edu	37	21	37443336	37443336	+	Silent	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr21:37443336C>G	ENST00000290349.6	+	2	553	c.378C>G	c.(376-378)ctC>ctG	p.L126L	CBR1_ENST00000439427.2_Silent_p.L126L|CBR1_ENST00000530908.1_Silent_p.L126L|CBR1_ENST00000399191.3_Silent_p.L126L|CBR1_ENST00000466328.2_3'UTR|AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	126					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	CAGAATTACTCCCTCTAATAA	0.478																																																	0													98.0	89.0	92.0					21																	37443336		2203	4300	6503	SO:0001819	synonymous_variant	873				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.378C>G	21.37:g.37443336C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBZ7|B4DFK7|Q3LHW8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L126	ENST00000290349.6	37	c.378	CCDS13641.1	21																																																																																			CBR1	-	pfam_DH_sc/Rdtase_SDR		0.478	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR1	HGNC	protein_coding	OTTHUMT00000194633.2	C			37443336	+1	no_errors	ENST00000290349	ensembl	human	known	70_37	silent	SNP	0.994	G
CD19	930	genome.wustl.edu	37	16	28950043	28950043	+	Silent	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:28950043C>G	ENST00000324662.3	+	13	1577	c.1533C>G	c.(1531-1533)ccC>ccG	p.P511P	CD19_ENST00000538922.1_Silent_p.P512P|CD19_ENST00000567541.1_Silent_p.P512P			P15391	CD19_HUMAN	CD19 molecule	511					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGCAGCCCCCCAGCTCCGCT	0.607																																																	0													79.0	76.0	77.0					16																	28950043		2197	4300	6497	SO:0001819	synonymous_variant	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1533C>G	16.37:g.28950043C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.P512	ENST00000324662.3	37	c.1536	CCDS10644.1	16																																																																																			CD19	-	NULL		0.607	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	C			28950043	+1	no_errors	ENST00000538922	ensembl	human	known	70_37	silent	SNP	1.000	G
CDC73	79577	genome.wustl.edu	37	1	193220216	193220216	+	3'UTR	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:193220216G>A	ENST00000367435.3	+	0	2154				CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73						cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TCTTTTTACTGAAAATACTAT	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.*374G>A	1.37:g.193220216G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	RNA	SNP	-	NULL	ENST00000367435.3	37	NULL	CCDS1382.1	1																																																																																			CDC73	-	-		0.299	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	G	NM_024529		193220216	+1	no_errors	ENST00000477868	ensembl	human	known	70_37	rna	SNP	1.000	A
CNGA4	1262	genome.wustl.edu	37	11	6261670	6261670	+	Missense_Mutation	SNP	C	C	T	rs371882863		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:6261670C>T	ENST00000379936.2	+	4	761	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	216					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGCCTGCGGCGCCAGTACCT	0.602																																																	0								C	CYS/ARG	0,4402		0,0,2201	59.0	67.0	64.0		646	5.2	1.0	11		64	1,8591	1.2+/-3.3	0,1,4295	no	missense	CNGA4	NM_001037329.3	180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	216/576	6261670	1,12993	2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.646C>T	11.37:g.6261670C>T	ENSP00000369268:p.Arg216Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R216C	ENST00000379936.2	37	c.646	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.271144	0.95429	0.0	1.16E-4	ENSG00000132259	ENST00000379936	D	0.97505	-4.41	5.25	5.25	0.73442	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.90922	3.16	0.80722	D	1	D;D	0.69078	0.997;0.99	P;P	0.53401	0.725;0.7	D	0.99246	1.0886	10	0.72032	D	0.01	.	17.7596	0.88461	0.0:1.0:0.0:0.0	.	216;176	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	C	216	ENSP00000369268:R216C	ENSP00000369268:R216C	R	+	1	0	CNGA4	6218246	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.780000	0.55386	2.602000	0.87976	0.650000	0.86243	CGC	CNGA4	-	pfam_Ion_trans_dom		0.602	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	C	NM_001037329		6261670	+1	no_errors	ENST00000379936	ensembl	human	known	70_37	missense	SNP	1.000	T
COQ7	10229	genome.wustl.edu	37	16	19083257	19083257	+	Silent	SNP	A	A	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:19083257A>G	ENST00000321998.5	+	2	147	c.81A>G	c.(79-81)ggA>ggG	p.G27G	COQ7_ENST00000544894.2_5'UTR|COQ7_ENST00000568985.1_Silent_p.G27G|COQ7_ENST00000569127.1_Silent_p.G4G	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	27					age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CAGCTTATGGAAGAAGAACCA	0.438											OREG0023656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153.0	137.0	143.0					16																	19083257		2197	4300	6497	SO:0001819	synonymous_variant	10229			U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.81A>G	16.37:g.19083257A>G		Somatic	730	WXS	Illumina HiSeq	Phase_IV	B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Silent	SNP	pfam_Ubq_synth_Coq7,superfamily_Ferritin/RNR-like	p.G27	ENST00000321998.5	37	c.81	CCDS10574.1	16																																																																																			COQ7	-	NULL		0.438	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COQ7	HGNC	protein_coding	OTTHUMT00000254275.3	A	NM_016138		19083257	+1	no_errors	ENST00000321998	ensembl	human	known	70_37	silent	SNP	0.028	G
CPT1B	1375	genome.wustl.edu	37	22	51016307	51016307	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr22:51016307G>A	ENST00000360719.2	-	2	175	c.38C>T	c.(37-39)aCg>aTg	p.T13M	CHKB-CPT1B_ENST00000452668.1_5'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.T13M|CPT1B_ENST00000440709.1_Missense_Mutation_p.T13M|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000395650.2_Missense_Mutation_p.T13M|CPT1B_ENST00000312108.7_Missense_Mutation_p.T13M|CPT1B_ENST00000405237.3_Missense_Mutation_p.T13M|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_De_novo_Start_OutOfFrame	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	13					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGGGTCACCGTGAACTGGAA	0.662																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													59.0	54.0	56.0					22																	51016307		2203	4300	6503	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.38C>T	22.37:g.51016307G>A	ENSP00000353945:p.Thr13Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.T13M	ENST00000360719.2	37	c.38	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761634	0.89932	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;T	0.85702	-1.96;-1.96;-1.96;-1.94;-2.02;-1.96;-0.27	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.92407	0.7590	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.927;0.993	D	0.93412	0.6769	10	0.87932	D	0	-19.6636	16.013	0.80417	0.0:0.0:1.0:0.0	.	13;13;13	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	M	13	ENSP00000385486:T13M;ENSP00000312189:T13M;ENSP00000353945:T13M;ENSP00000409342:T13M;ENSP00000414713:T13M;ENSP00000379011:T13M;ENSP00000406316:T13M	ENSP00000312189:T13M	T	-	2	0	CPT1B	49363173	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.163000	0.94750	2.378000	0.81104	0.561000	0.74099	ACG	CPT1B	-	NULL		0.662	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	G	NM_152246		51016307	-1	no_errors	ENST00000312108	ensembl	human	known	70_37	missense	SNP	1.000	A
CSNK1G2	1455	genome.wustl.edu	37	19	1952627	1952627	+	Intron	SNP	A	A	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:1952627A>T	ENST00000255641.8	+	1	230				CSNK1G2-AS1_ENST00000314315.3_RNA|CSNK1G2-AS1_ENST00000586395.1_RNA	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GACGATGATTAAAAAAACCCG	0.512																																					Ovarian(91;880 1392 21236 36928 37598)												0																																										SO:0001627	intron_variant	255193			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.-266+11210A>T	19.37:g.1952627A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU42|O00704|Q8WUB1	RNA	SNP	-	NULL	ENST00000255641.8	37	NULL	CCDS12077.1	19																																																																																			CSNK1G2-AS1	-	-		0.512	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2-AS1	HGNC	protein_coding	OTTHUMT00000449287.1	A	NM_001319		1952627	-1	no_errors	ENST00000314315	ensembl	human	known	70_37	rna	SNP	0.004	T
CUL4B	8450	genome.wustl.edu	37	X	119674274	119674274	+	Silent	SNP	T	T	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:119674274T>G	ENST00000404115.3	-	13	2042	c.1641A>C	c.(1639-1641)gcA>gcC	p.A547A	CUL4B_ENST00000336592.6_Silent_p.A534A|CUL4B_ENST00000371322.5_Silent_p.A529A	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	547					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACGTTTCAAATGCTTCTTTCA	0.323																																																	0													143.0	129.0	134.0					X																	119674274		2202	4297	6499	SO:0001819	synonymous_variant	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1641A>C	X.37:g.119674274T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	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.A547	ENST00000404115.3	37	c.1641	CCDS35379.1	X																																																																																			CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.323	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	T	NM_003588		119674274	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	silent	SNP	0.920	G
CWC25	54883	genome.wustl.edu	37	17	36958427	36958427	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:36958427G>A	ENST00000225428.5	-	10	1493	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	CWC25_ENST00000536127.1_Missense_Mutation_p.S336F|PIP4K2B_ENST00000311500.6_5'Flank|PIP4K2B_ENST00000269554.3_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	399										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATCCTCCAGGGAGGAAGTAGA	0.443																																																	0													60.0	58.0	59.0					17																	36958427		1902	4125	6027	SO:0001583	missense	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1196C>T	17.37:g.36958427G>A	ENSP00000225428:p.Ser399Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLM3|Q68DK5	Missense_Mutation	SNP	pfam_CWC25,pfam_CIR_N_dom	p.S399F	ENST00000225428.5	37	c.1196	CCDS45663.1	17	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833681	0.91036	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.05	5.05	0.67936	.	0.110818	0.64402	D	0.000005	T	0.75591	0.3870	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.994;0.981	P;P	0.59288	0.855;0.77	T	0.78831	-0.2049	9	0.87932	D	0	.	17.1303	0.86724	0.0:0.0:1.0:0.0	.	336;399	B4DJK2;Q9NXE8	.;CWC25_HUMAN	F	399;336	.	ENSP00000225428:S399F	S	-	2	0	CWC25	34211953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.511000	0.67024	2.633000	0.89246	0.563000	0.77884	TCC	CWC25	-	NULL		0.443	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	G	NM_017748		36958427	-1	no_errors	ENST00000225428	ensembl	human	known	70_37	missense	SNP	1.000	A
CXorf66	347487	genome.wustl.edu	37	X	139038831	139038831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:139038831G>A	ENST00000370540.1	-	3	333	c.310C>T	c.(310-312)Caa>Taa	p.Q104*		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	104	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGACTGCATTGAGAGGCTGTC	0.413																																																	0													183.0	155.0	165.0					X																	139038831		2203	4300	6503	SO:0001587	stop_gained	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.310C>T	X.37:g.139038831G>A	ENSP00000359571:p.Gln104*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.Q104*	ENST00000370540.1	37	c.310	CCDS35411.1	X	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544350	0.27563	.	.	ENSG00000203933	ENST00000370540	.	.	.	4.21	-2.58	0.06228	.	2.917630	0.01786	N	0.032031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9576	2.757	0.05295	0.1501:0.4768:0.2176:0.1556	.	.	.	.	X	104	.	.	Q	-	1	0	CXorf66	138866497	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.036000	0.12185	-0.701000	0.05063	0.550000	0.68814	CAA	CXorf66	-	NULL		0.413	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf66	HGNC	protein_coding	OTTHUMT00000058572.1	G	NM_001013403		139038831	-1	no_errors	ENST00000370540	ensembl	human	known	70_37	nonsense	SNP	0.000	A
DCC	1630	genome.wustl.edu	37	18	51013194	51013194	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr18:51013194C>T	ENST00000442544.2	+	26	4380	c.3764C>T	c.(3763-3765)aCg>aTg	p.T1255M	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.T890M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1255					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGGTGCCAACGCTAGAAAGT	0.512																																																	0													114.0	103.0	107.0					18																	51013194		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3764C>T	18.37:g.51013194C>T	ENSP00000389140:p.Thr1255Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,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.T1255M	ENST00000442544.2	37	c.3764	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776825	0.31411	.	.	ENSG00000187323	ENST00000442544	T	0.53640	0.61	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.075451	0.53938	D	0.000060	T	0.61726	0.2370	L	0.44542	1.39	0.53005	D	0.999968	D	0.89917	1.0	D	0.67725	0.953	T	0.63963	-0.6518	10	0.72032	D	0.01	-9.2951	17.8261	0.88666	0.0:1.0:0.0:0.0	.	1255	P43146	DCC_HUMAN	M	1255	ENSP00000389140:T1255M	ENSP00000389140:T1255M	T	+	2	0	DCC	49267192	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	6.474000	0.73578	2.499000	0.84300	0.462000	0.41574	ACG	DCC	-	pfam_Neogenin_C		0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		51013194	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	T
DCDC1	341019	genome.wustl.edu	37	11	31263120	31263120	+	Silent	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:31263120C>T	ENST00000597505.1	-	7	1097	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L				P59894	DCDC1_HUMAN	doublecortin domain containing 1	231					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTAGTCCTCGCAAAGGTGTGA	0.433																																																	0																																										SO:0001819	synonymous_variant	100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.1098G>A	11.37:g.31263120C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	pfam_Ricin_B_lectin,superfamily_Doublecortin_dom,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.L366	ENST00000597505.1	37	c.1098		11																																																																																			DCDC5	-	NULL		0.433	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC5	HGNC	protein_coding	OTTHUMT00000463167.1	C	NM_181807		31263120	-1	no_errors	ENST00000597505	ensembl	human	putative	70_37	silent	SNP	1.000	T
DDHD2	23259	genome.wustl.edu	37	8	38111109	38111109	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr8:38111109G>C	ENST00000397166.2	+	16	2452	c.1927G>C	c.(1927-1929)Gaa>Caa	p.E643Q	DDHD2_ENST00000520272.2_Missense_Mutation_p.E643Q|DDHD2_ENST00000517385.1_Missense_Mutation_p.E262Q|DDHD2_ENST00000529845.1_Missense_Mutation_p.E94Q	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	643	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GGCAGTTAAAGAAGAAGTCCT	0.398																																																	0													153.0	146.0	149.0					8																	38111109		2203	4300	6503	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1927G>C	8.37:g.38111109G>C	ENSP00000380352:p.Glu643Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.E643Q	ENST00000397166.2	37	c.1927	CCDS34883.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.781231|2.781231	0.49891|0.49891	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845;ENST00000528613|ENST00000526144	T;T|.	0.33654|.	1.4;1.4|.	4.9|4.9	4.02|4.02	0.46733|0.46733	DDHD (2);|.	0.357947|.	0.31404|.	N|.	0.007716|.	T|T	0.38480|0.38480	0.1042|0.1042	N|N	0.17723|0.17723	0.515|0.515	0.33074|0.33074	D|D	0.535757|0.535757	B|.	0.25850|.	0.136|.	B|.	0.32149|.	0.141|.	T|T	0.47459|0.47459	-0.9116|-0.9116	10|6	0.22109|0.20519	T|T	0.4|0.43	-8.401|-8.401	14.71|14.71	0.69222|0.69222	0.0:0.1457:0.8543:0.0|0.0:0.1457:0.8543:0.0	.|.	643|.	O94830|.	DDHD2_HUMAN|.	Q|N	643;643;262;94;11|144	ENSP00000380352:E643Q;ENSP00000429932:E643Q|.	ENSP00000380352:E643Q|ENSP00000437029:K144N	E|K	+|+	1|3	0|2	DDHD2|DDHD2	38230266|38230266	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.314000|0.314000	0.28054|0.28054	2.827000|2.827000	0.48112|0.48112	1.181000|1.181000	0.42912|0.42912	0.462000|0.462000	0.41574|0.41574	GAA|AAG	DDHD2	-	pfam_DDHD,pfscan_DDHD		0.398	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	G	XM_291291		38111109	+1	no_errors	ENST00000397166	ensembl	human	known	70_37	missense	SNP	0.986	C
DEDD	9191	genome.wustl.edu	37	1	161091814	161091815	+	3'UTR	INS	-	-	A	rs34197267|rs397804763|rs369539156		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:161091814_161091815insA	ENST00000368006.3	-	0	1293_1294				DEDD_ENST00000458050.2_3'UTR|DEDD_ENST00000368005.1_Intron|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000392188.1_3'UTR|DEDD_ENST00000490843.2_3'UTR|DEDD_ENST00000545495.1_3'UTR|DEDD_ENST00000489249.1_5'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCTTTTTCTTTAAAAAAAAAAA	0.47																																																	0																																										SO:0001624	3_prime_UTR_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.*123->T	1.37:g.161091825_161091825dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVF5|O60737	RNA	INS	-	NULL	ENST00000368006.3	37	NULL	CCDS1219.1	1																																																																																			DEDD	-	-		0.470	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	-	NM_004216		161091815	-1	no_errors	ENST00000486041	ensembl	human	known	70_37	rna	INS	0.993:1.000	A
DEFB4B	100289462	genome.wustl.edu	37	8	7272594	7272594	+	Silent	SNP	A	A	G	rs201824968		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr8:7272594A>G	ENST00000318157.2	-	2	119	c.84T>C	c.(82-84)ccT>ccC	p.P28P		NM_001205266.1	NP_001192195.1	O15263	DFB4A_HUMAN	defensin, beta 4B	28					chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)											GGCAGGTAACAGGATCGCCTA	0.428																																																	0																																										SO:0001819	synonymous_variant	100289462				CCDS55193.1	8p23.1	2011-03-29	2010-03-01	2010-03-01	ENSG00000177257	ENSG00000177257		"""Defensins, beta"""	30193	protein-coding gene	gene with protein product			"""defensin, beta 4, pseudogene"""	DEFB4P			Standard	NM_001205266		Approved		uc022arf.1	O15263	OTTHUMG00000143857	ENST00000318157.2:c.84T>C	8.37:g.7272594A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LC0	Silent	SNP	pfam_Defensin_beta-typ,smart_Defensin_beta/neutrophil	p.P28	ENST00000318157.2	37	c.84	CCDS55193.1	8																																																																																			DEFB4B	-	pfam_Defensin_beta-typ		0.428	DEFB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB4B	HGNC	protein_coding	OTTHUMT00000290105.3	A			7272594	-1	no_errors	ENST00000318157	ensembl	human	known	70_37	silent	SNP	0.000	G
DERL3	91319	genome.wustl.edu	37	22	24176926	24176926	+	IGR	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr22:24176926G>A	ENST00000318109.7	-	0	860				DERL3_ENST00000404056.1_3'UTR|DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000406855.3_3'UTR			Q96Q80	DERL3_HUMAN	derlin 3						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						TCCAGACCCAGAGAGCTGAGA	0.612																																																	0																																										SO:0001628	intergenic_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743		22.37:g.24176926G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	RNA	SNP	-	NULL	ENST00000318109.7	37	NULL	CCDS33615.1	22																																																																																			DERL3	-	-		0.612	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24176926	-1	no_errors	ENST00000464023	ensembl	human	known	70_37	rna	SNP	0.000	A
DERL3	91319	genome.wustl.edu	37	22	24176933	24176933	+	IGR	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr22:24176933G>A	ENST00000318109.7	-	0	860				DERL3_ENST00000404056.1_3'UTR|DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000406855.3_3'UTR			Q96Q80	DERL3_HUMAN	derlin 3						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CCAGAGAGCTGAGAAGAGTAG	0.612																																																	0																																										SO:0001628	intergenic_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743		22.37:g.24176933G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	RNA	SNP	-	NULL	ENST00000318109.7	37	NULL	CCDS33615.1	22																																																																																			DERL3	-	-		0.612	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24176933	-1	no_errors	ENST00000464023	ensembl	human	known	70_37	rna	SNP	0.002	A
DGKI	9162	genome.wustl.edu	37	7	137271863	137271863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:137271863G>A	ENST00000288490.5	-	13	1405	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKI_ENST00000446122.1_Nonsense_Mutation_p.R469*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.R469*|DGKI_ENST00000453654.2_Nonsense_Mutation_p.R169*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	469	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTGAGAGTTCGAGCCAGGTCA	0.552																																																	0													84.0	77.0	79.0					7																	137271863		2203	4300	6503	SO:0001587	stop_gained	9162			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1405C>T	7.37:g.137271863G>A	ENSP00000288490:p.Arg469*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R469*	ENST00000288490.5	37	c.1405	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	40	7.986392	0.98596	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9747	0.92731	0.0:0.0:1.0:0.0	.	.	.	.	X	169;417;469;469;469	.	ENSP00000288490:R469X	R	-	1	2	DGKI	136922403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.057000	0.49931	2.785000	0.95823	0.650000	0.86243	CGA	DGKI	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom		0.552	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	G	NM_004717		137271863	-1	no_errors	ENST00000424189	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DMD	1756	genome.wustl.edu	37	X	31525526	31525526	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:31525526G>C	ENST00000357033.4	-	56	8468	c.8262C>G	c.(8260-8262)aaC>aaG	p.N2754K	DMD_ENST00000343523.2_Missense_Mutation_p.N294K|DMD_ENST00000541735.1_Missense_Mutation_p.N294K|DMD_ENST00000474231.1_Missense_Mutation_p.N294K|DMD_ENST00000359836.1_Missense_Mutation_p.N294K|DMD_ENST00000378677.2_Missense_Mutation_p.N2750K|DMD_ENST00000378707.3_Missense_Mutation_p.N294K|DMD_ENST00000445312.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2754					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|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 skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCATCCAGGTTGTGATAAA	0.423																																																	0													141.0	115.0	124.0					X																	31525526		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8262C>G	X.37:g.31525526G>C	ENSP00000354923:p.Asn2754Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.N2754K	ENST00000357033.4	37	c.8262	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.48|12.48	1.951437|1.951437	0.34471|0.34471	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.48201|.	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82|.	5.68|5.68	4.81|4.81	0.61882|0.61882	.|.	0.000000|.	0.39985|.	U|.	0.001213|.	T|T	0.55593|0.55593	0.1930|0.1930	L|L	0.36672|0.36672	1.1|1.1	0.38192|0.38192	D|D	0.939937|0.939937	B;P;B;P;P;B;B;B;P;P;P|.	0.38280|.	0.234;0.625;0.071;0.625;0.625;0.035;0.152;0.152;0.625;0.571;0.486|.	P;B;B;B;B;B;B;B;B;B;B|.	0.44772|.	0.46;0.192;0.038;0.192;0.192;0.039;0.232;0.155;0.192;0.121;0.205|.	T|T	0.55872|0.55872	-0.8072|-0.8072	10|5	0.52906|.	T|.	0.07|.	.|.	13.1683|13.1683	0.59583|0.59583	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	2746;2754;2750;1413;1410;294;294;294;294;294;2631|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	K|A	2746;1413;1410;450;2750;2754;294;294;2754;2631;294;294;294|483	ENSP00000350765:N450K;ENSP00000367948:N2750K;ENSP00000354923:N2754K;ENSP00000352894:N294K;ENSP00000340057:N294K;ENSP00000367979:N294K;ENSP00000444119:N294K;ENSP00000417123:N294K|.	ENSP00000340057:N294K|.	N|P	-|-	3|1	2|0	DMD|DMD	31435447|31435447	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	2.399000|2.399000	0.44495|0.44495	1.130000|1.130000	0.42092|0.42092	0.594000|0.594000	0.82650|0.82650	AAC|CCT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.423	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		31525526	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	C
DPT	1805	genome.wustl.edu	37	1	168683560	168683560	+	Silent	SNP	C	C	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:168683560C>A	ENST00000367817.3	-	2	419	c.330G>T	c.(328-330)ggG>ggT	p.G110G		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	110	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGCCACCAGCCCATTGTTGG	0.542																																																	0													90.0	80.0	83.0					1																	168683560		2203	4300	6503	SO:0001819	synonymous_variant	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.330G>T	1.37:g.168683560C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K981|Q8N4R2|Q9UIX8	Silent	SNP	NULL	p.G110	ENST00000367817.3	37	c.330	CCDS1275.1	1																																																																																			DPT	-	NULL		0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1	C	NM_001937		168683560	-1	no_errors	ENST00000367817	ensembl	human	known	70_37	silent	SNP	0.089	A
AL359195.1	0	genome.wustl.edu	37	10	82013302	82013302	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:82013302G>T	ENST00000356374.4	+	1	3837	c.820G>T	c.(820-822)Gta>Tta	p.V274L																								ACCTCCACATGTACTACTTGG	0.458																																																	0																																										SO:0001583	missense	0																														ENST00000356374.4:c.820G>T	10.37:g.82013302G>T	ENSP00000348738:p.Val274Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.V274L	ENST00000356374.4	37	c.820		10	.	.	.	.	.	.	.	.	.	.	g	3.676	-0.066586	0.07273	.	.	ENSG00000204038	ENST00000356374	.	.	.	0.891	-1.78	0.07957	.	.	.	.	.	T	0.33294	0.0858	.	.	.	.	.	.	.	.	.	.	.	.	T	0.36504	-0.9745	4	0.87932	D	0	.	0.9899	0.01454	0.1858:0.3045:0.3237:0.186	.	.	.	.	L	274	.	ENSP00000348738:V274L	V	+	1	0	AL359195.1	82003282	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-2.498000	0.00968	-1.694000	0.01425	0.194000	0.17425	GTA	AL359195.1	-	NULL		0.458	AL359195.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000204038	Clone_based_ensembl_gene	protein_coding		G			82013302	+1	no_errors	ENST00000356374	ensembl	human	known	70_37	missense	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	GL000212.1	65229	65229	+	IGR	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrGL000212.1:65229G>A								None (None upstream) : None (None downstream)																							CCAGGGCCTCGCCGACGGGGA	0.682																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65229G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.S326		37	c.978		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.682					ENSG00000212857	Clone_based_ensembl_gene			G			65229	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	A
EP400NL	347918	genome.wustl.edu	37	12	132589423	132589423	+	Silent	SNP	G	G	A	rs374559184		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr12:132589423G>A	ENST00000376625.4	+	1	884	c.858G>A	c.(856-858)acG>acA	p.T286T	EP400NL_ENST00000389560.2_Silent_p.T217T|EP400NL_ENST00000443539.2_Silent_p.T154T|EP400NL_ENST00000361109.5_Silent_p.T133T|EP400NL_ENST00000392352.1_Silent_p.T154T			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	286										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						TCGAGAGGACGCCCGGCGTGC	0.741																																																	0													9.0	12.0	11.0					12																	132589423		686	1581	2267	SO:0001819	synonymous_variant	347918			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.858G>A	12.37:g.132589423G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Silent	SNP	NULL	p.T286	ENST00000376625.4	37	c.858		12																																																																																			EP400NL	-	NULL		0.741	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		G	NM_182613		132589423	+1	no_errors	ENST00000376625	ensembl	human	known	70_37	silent	SNP	0.189	A
FAM115C	285966	genome.wustl.edu	37	7	143417588	143417588	+	Missense_Mutation	SNP	G	G	A	rs2306872	byFrequency	TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:143417588G>A	ENST00000441159.2	+	3	1502	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	FAM115C_ENST00000425618.2_Missense_Mutation_p.R198Q|FAM115C_ENST00000409703.3_Missense_Mutation_p.R315Q|FAM115C_ENST00000411935.1_Missense_Mutation_p.R315Q|FAM115C_ENST00000357344.4_Missense_Mutation_p.R479Q|FAM115C_ENST00000444908.2_Missense_Mutation_p.R479Q|FAM115C_ENST00000411497.2_Missense_Mutation_p.R198Q			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	479					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GCTGTGAGCCGGGAAAATCCA	0.622																																																	0																																										SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1436G>A	7.37:g.143417588G>A	ENSP00000404265:p.Arg479Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.R479Q	ENST00000441159.2	37	c.1436		7	.	.	.	.	.	.	.	.	.	.	g	10.61	1.398158	0.25205	.	.	ENSG00000170379	ENST00000444908;ENST00000411497;ENST00000357344;ENST00000441159;ENST00000411935;ENST00000409703;ENST00000425618	.	.	.	3.53	-3.7	0.04437	.	1.518790	0.03450	N	0.210598	T	0.29749	0.0743	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.28439	0.212;0.009;0.028;0.028	B;B;B;B	0.23716	0.048;0.004;0.005;0.009	T	0.07443	-1.0772	9	0.21540	T	0.41	-4.185	4.6961	0.12804	0.4008:0.2044:0.3948:0.0	.	315;479;198;479	A6NFQ2-3;A6NFQ2;Q8N1I1;A6NFQ2-2	.;F115C_HUMAN;.;.	Q	479;198;479;479;315;315;198	.	ENSP00000349902:R479Q	R	+	2	0	FAM115C	143048521	0.000000	0.05858	0.001000	0.08648	0.697000	0.40408	-1.613000	0.02059	-0.963000	0.03600	0.411000	0.27672	CGG	FAM115C	-	NULL		0.622	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	G	NM_173678		143417588	+1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.006	A
FGFRL1	53834	genome.wustl.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																																	0																																										SO:0001589	frameshift_variant	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T482fs	ENST00000398484.2	37	c.1435_1436	CCDS3344.1	4																																																																																			FGFRL1	-	NULL		0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	CA	NM_021923		1019056	+1	no_errors	ENST00000264748	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
FILIP1L	11259	genome.wustl.edu	37	3	99567710	99567710	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:99567710G>A	ENST00000354552.3	-	5	3280	c.2810C>T	c.(2809-2811)cCg>cTg	p.P937L	FILIP1L_ENST00000331335.5_Missense_Mutation_p.P937L|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P513L|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P697L|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P697L|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	937						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						GCCACAGTTCGGTATCACTGC	0.448																																																	0													292.0	279.0	283.0					3																	99567710		2040	4186	6226	SO:0001583	missense	11259				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.2810C>T	3.37:g.99567710G>A	ENSP00000346560:p.Pro937Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.P937L	ENST00000354552.3	37	c.2810	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906342	0.72868	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.37584	1.51;1.19;1.21;1.51;1.21;1.3	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000079	T	0.60117	0.2244	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67900	0.954;0.9	T	0.56535	-0.7963	10	0.62326	D	0.03	-13.0151	20.8794	0.99867	0.0:0.0:1.0:0.0	.	937;937	Q4L180-2;Q4L180	.;FIL1L_HUMAN	L	937;513;697;937;697;683;697	ENSP00000346560:P937L;ENSP00000417774:P513L;ENSP00000419642:P697L;ENSP00000327880:P937L;ENSP00000373192:P697L;ENSP00000419874:P697L	ENSP00000327880:P937L	P	-	2	0	FILIP1L	101050400	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.864000	0.99589	2.941000	0.99782	0.655000	0.94253	CCG	FILIP1L	-	NULL		0.448	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	G	NM_014890		99567710	-1	no_errors	ENST00000354552	ensembl	human	known	70_37	missense	SNP	1.000	A
FOXP3	50943	genome.wustl.edu	37	X	49113249	49113249	+	Silent	SNP	G	G	A	rs370196156		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:49113249G>A	ENST00000376207.4	-	6	793	c.606C>T	c.(604-606)ccC>ccT	p.P202P	FOXP3_ENST00000518685.1_Silent_p.P167P|FOXP3_ENST00000376197.1_Silent_p.P152P|FOXP3_ENST00000455775.2_Silent_p.P202P|FOXP3_ENST00000557224.1_Silent_p.P167P|FOXP3_ENST00000376199.2_Silent_p.P167P	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	202					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|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 cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|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 corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TCTCACATCCGGGCCACTTGC	0.627																																					GBM(182;1432 2112 16160 23073 31774)												0													69.0	59.0	63.0					X																	49113249		2203	4300	6503	SO:0001819	synonymous_variant	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.606C>T	X.37:g.49113249G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P202	ENST00000376207.4	37	c.606	CCDS14323.1	X																																																																																			FOXP3	-	NULL		0.627	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	HGNC	protein_coding	OTTHUMT00000060814.1	G	NM_014009		49113249	-1	no_errors	ENST00000376207	ensembl	human	known	70_37	silent	SNP	0.367	A
FRG2B	441581	genome.wustl.edu	37	10	135438753	135438753	+	Silent	SNP	G	G	A	rs375000694		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:135438753G>A	ENST00000425520.1	-	4	739	c.687C>T	c.(685-687)acC>acT	p.T229T	FRG2B_ENST00000443774.1_Silent_p.T230T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	229						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		AAGCTGCCTGGGTGGCCATGG	0.597																																																	0													3.0	4.0	4.0					10																	135438753		1467	3364	4831	SO:0001819	synonymous_variant	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.687C>T	10.37:g.135438753G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSQ1	Silent	SNP	NULL	p.T230	ENST00000425520.1	37	c.690	CCDS44502.1	10																																																																																			FRG2B	-	NULL		0.597	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1	G	NM_001080998		135438753	-1	no_errors	ENST00000443774	ensembl	human	known	70_37	silent	SNP	0.707	A
GAB2	9846	genome.wustl.edu	37	11	77934520	77934520	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:77934520G>A	ENST00000361507.4	-	6	1590	c.1505C>T	c.(1504-1506)cCc>cTc	p.P502L	GAB2_ENST00000340149.2_Missense_Mutation_p.P464L	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	502					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTCTGCTGGGGCCTCGGTG	0.547																																																	0													175.0	165.0	168.0					11																	77934520		2200	4292	6492	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1505C>T	11.37:g.77934520G>A	ENSP00000354952:p.Pro502Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P502L	ENST00000361507.4	37	c.1505	CCDS8259.1	11	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695067	0.48202	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.39997	1.05;1.05	4.67	3.76	0.43208	.	0.297245	0.30159	U	0.010266	T	0.30947	0.0781	L	0.38175	1.15	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.12528	-1.0544	10	0.51188	T	0.08	-6.2426	8.2727	0.31853	0.0846:0.0:0.7239:0.1915	.	502	Q9UQC2	GAB2_HUMAN	L	464;502	ENSP00000343959:P464L;ENSP00000354952:P502L	ENSP00000343959:P464L	P	-	2	0	GAB2	77612168	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.946000	0.75953	1.331000	0.45412	0.561000	0.74099	CCC	GAB2	-	NULL		0.547	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1	G	NM_080491		77934520	-1	no_errors	ENST00000361507	ensembl	human	known	70_37	missense	SNP	1.000	A
GAPDHS	26330	genome.wustl.edu	37	19	36034590	36034590	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:36034590G>A	ENST00000222286.4	+	9	1033	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA|TMEM147_ENST00000392205.1_5'Flank|TMEM147_ENST00000222284.5_5'Flank|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	306					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.R306L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGCGTTCCGGGTACCAACC	0.612																																																	1	Substitution - Missense(1)	lung(1)											74.0	76.0	75.0					19																	36034590		2203	4300	6503	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.917G>A	19.37:g.36034590G>A	ENSP00000222286:p.Arg306Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.R306Q	ENST00000222286.4	37	c.917	CCDS12465.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.425332	0.96131	.	.	ENSG00000105679	ENST00000222286	T	0.56776	0.44	5.39	5.39	0.77823	Glyceraldehyde 3-phosphate dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89176	0.3540	10	0.87932	D	0	-16.9299	17.076	0.86586	0.0:0.0:1.0:0.0	.	306	O14556	G3PT_HUMAN	Q	306	ENSP00000222286:R306Q	ENSP00000222286:R306Q	R	+	2	0	GAPDHS	40726430	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	9.763000	0.98947	2.706000	0.92434	0.556000	0.70494	CGG	GAPDHS	-	pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1		0.612	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	G	NM_014364		36034590	+1	no_errors	ENST00000222286	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR45	11250	genome.wustl.edu	37	2	105858750	105858750	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:105858750G>A	ENST00000258456.1	+	1	551	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	145						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(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGCTGAACCCGCGCAGGGCCA	0.657																																																	0													43.0	41.0	42.0					2																	105858750		2203	4300	6503	SO:0001819	synonymous_variant	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.435G>A	2.37:g.105858750G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NWS4|Q6NXU6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P145	ENST00000258456.1	37	c.435	CCDS2066.1	2																																																																																			GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	G	NM_007227		105858750	+1	no_errors	ENST00000258456	ensembl	human	known	70_37	silent	SNP	0.004	A
HRC	3270	genome.wustl.edu	37	19	49657432	49657432	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:49657432C>T	ENST00000252825.4	-	1	1249	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	HRC_ENST00000595625.1_Missense_Mutation_p.E355K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	355	4 X tandem repeats, acidic.				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)		GACACATCCTCATCTTCTTCC	0.542																																					Melanoma(37;75 1097 24567 25669 30645)												0													231.0	172.0	192.0					19																	49657432		2203	4300	6503	SO:0001583	missense	3270				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.1063G>A	19.37:g.49657432C>T	ENSP00000252825:p.Glu355Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.E355K	ENST00000252825.4	37	c.1063	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836538	0.50951	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.44482	0.92	3.39	3.39	0.38822	.	.	.	.	.	T	0.53802	0.1819	L	0.49778	1.585	0.38854	D	0.95634	D	0.69078	0.997	D	0.79108	0.992	T	0.53158	-0.8478	9	0.34782	T	0.22	-11.0114	10.6559	0.45675	0.0:1.0:0.0:0.0	.	355	P23327	SRCH_HUMAN	K	355;54;325	ENSP00000252825:E355K	ENSP00000252825:E355K	E	-	1	0	HRC	54349244	0.995000	0.38212	0.518000	0.27811	0.286000	0.27126	2.777000	0.47717	1.626000	0.50381	0.462000	0.41574	GAG	HRC	-	pfam_Hist_rich_Ca-bd		0.542	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	C	NM_002152		49657432	-1	no_errors	ENST00000252825	ensembl	human	known	70_37	missense	SNP	0.950	T
IL12B	3593	genome.wustl.edu	37	5	158750115	158750117	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	AGC	AGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr5:158750115_158750117delAGC	ENST00000231228.2	-	3	764_766	c.309_311delGCT	c.(307-312)ctgctt>ctt	p.103_104LL>L		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	103	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTTGTGAAGCAGCAGGAGCG	0.438																																																	0																																										SO:0001651	inframe_deletion	3593			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.309_311delGCT	5.37:g.158750118_158750120delAGC	ENSP00000231228:p.Leu104del	Somatic		WXS	Illumina HiSeq	Phase_IV		In_Frame_Del	DEL	pfam_Interleukin-12_bsu_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,pirsf_IL_12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_IL_12_beta	p.L104in_frame_del	ENST00000231228.2	37	c.311_309	CCDS4346.1	5																																																																																			IL12B	-	pirsf_IL_12_beta		0.438	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	AGC	NM_002187		158750117	-1	no_errors	ENST00000231228	ensembl	human	known	70_37	in_frame_del	DEL	1.000:0.998:0.990	-
INPP5D	3635	genome.wustl.edu	37	2	234072395	234072395	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:234072395C>G	ENST00000359570.5	+	14	1247	c.1247C>G	c.(1246-1248)tCc>tGc	p.S416C	INPP5D_ENST00000450745.1_Missense_Mutation_p.S180C|INPP5D_ENST00000538935.1_Missense_Mutation_p.S415C|INPP5D_ENST00000455936.2_Missense_Mutation_p.S180C			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	428					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGGTTTCTCTCCAAGGGGCAG	0.552																																					NSCLC(82;1215 1426 16163 20348 41018)												0													137.0	144.0	142.0					2																	234072395		2048	4172	6220	SO:0001583	missense	3635			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.1247C>G	2.37:g.234072395C>G	ENSP00000352575:p.Ser416Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.S416C	ENST00000359570.5	37	c.1247		2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878530	0.33162	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.98	4.98	0.66077	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.104769	0.64402	D	0.000004	T	0.72187	0.3429	.	.	.	0.42653	D	0.993452	B;B	0.20368	0.036;0.044	B;B	0.19148	0.014;0.024	T	0.67280	-0.5710	9	0.30078	T	0.28	.	14.1062	0.65091	0.0:0.8497:0.1503:0.0	.	427;428	Q92835-2;Q92835	.;SHIP1_HUMAN	C	416;415;180;180;49;49;49	ENSP00000352575:S416C;ENSP00000441010:S415C;ENSP00000407916:S180C;ENSP00000404610:S180C;ENSP00000400151:S49C;ENSP00000397421:S49C;ENSP00000405338:S49C	ENSP00000352575:S416C	S	+	2	0	INPP5D	233736467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.550000	0.60733	2.605000	0.88082	0.655000	0.94253	TCC	INPP5D	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.552	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		C	NM_001017915		234072395	+1	no_errors	ENST00000359570	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA1109	84162	genome.wustl.edu	37	4	123234800	123234800	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:123234800A>T	ENST00000264501.4	+	60	10643	c.10270A>T	c.(10270-10272)Acc>Tcc	p.T3424S	KIAA1109_ENST00000455637.1_Missense_Mutation_p.T3424S|KIAA1109_ENST00000388738.3_Missense_Mutation_p.T3424S			Q2LD37	K1109_HUMAN	KIAA1109	3424					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAGATGGCACCTATGAAGT	0.333																																																	0													120.0	112.0	114.0					4																	123234800		1841	4094	5935	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10270A>T	4.37:g.123234800A>T	ENSP00000264501:p.Thr3424Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.T3424S	ENST00000264501.4	37	c.10270	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.687072|4.687072	0.88639|0.88639	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707;ENST00000421930	.|T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.64402	.|U	.|0.000002	T|T	0.62502|0.62502	0.2433|0.2433	M|M	0.68317|0.68317	2.08|2.08	0.47511|0.47511	D|D	0.999443|0.999443	.|D;D	.|0.63880	.|0.974;0.993	.|D;D	.|0.68192	.|0.953;0.956	T|T	0.66089|0.66089	-0.6010|-0.6010	5|10	.|0.72032	.|D	.|0.01	.|.	15.5695|15.5695	0.76323|0.76323	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3424;3424	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	L|S	1381|3424;3424;3424;40;40	.|ENSP00000264501:T3424S;ENSP00000373390:T3424S;ENSP00000389925:T3424S;ENSP00000410874:T40S	.|ENSP00000264501:T3424S	H|T	+|+	2|1	0|0	KIAA1109|KIAA1109	123454250|123454250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.561000|8.561000	0.90715|0.90715	2.075000|2.075000	0.62263|0.62263	0.377000|0.377000	0.23210|0.23210	CAC|ACC	KIAA1109	-	NULL		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	A	NM_020797		123234800	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT72	140807	genome.wustl.edu	37	12	52984671	52984671	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr12:52984671G>A	ENST00000537672.2	-	6	1048	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	KRT72_ENST00000398066.3_Silent_p.L158L|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Silent_p.L346L	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	346	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCAGGCGGTTGAGCTCAGAGA	0.498																																																	0													104.0	96.0	99.0					12																	52984671		2203	4300	6503	SO:0001819	synonymous_variant	140807			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1038C>T	12.37:g.52984671G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L346	ENST00000537672.2	37	c.1038	CCDS8833.1	12																																																																																			KRT72	-	pfam_F,superfamily_Prefoldin		0.498	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	G	NM_080747		52984671	-1	no_errors	ENST00000293745	ensembl	human	known	70_37	silent	SNP	1.000	A
LIN9	286826	genome.wustl.edu	37	1	226420826	226420826	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:226420826G>C	ENST00000328205.5	-	14	2087	c.1542C>G	c.(1540-1542)atC>atG	p.I514M	LIN9_ENST00000481685.1_Missense_Mutation_p.I479M|LIN9_ENST00000366801.1_Missense_Mutation_p.I463M	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	498					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTGTACTCTTGATATCATTTA	0.308																																					Ovarian(197;1696 2974 11248 14117)												0													72.0	80.0	78.0					1																	226420826		2203	4290	6493	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1542C>G	1.37:g.226420826G>C	ENSP00000329102:p.Ile514Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.I514M	ENST00000328205.5	37	c.1542	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344828	0.41498	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.52	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.73962	2.25	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.99	D;D;P	0.68765	0.96;0.955;0.758	T	0.67917	-0.5546	9	0.42905	T	0.14	.	6.0877	0.19976	0.1367:0.0:0.5876:0.2757	.	479;498;648	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	M	474;514;569;463;479	.	ENSP00000329102:I514M	I	-	3	3	LIN9	224487449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.363000	0.34159	1.265000	0.44215	0.655000	0.94253	ATC	LIN9	-	NULL		0.308	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	G	NM_173083		226420826	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	C
PSMB8	5696	genome.wustl.edu	37	6	32811885	32811885	+	5'Flank	SNP	G	G	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:32811885G>C	ENST00000374882.3	-	0	0				PSMB8_ENST00000374881.2_Intron|PSMB9_ENST00000395330.1_5'Flank|TAPSAR1_ENST00000453426.1_lincRNA|PSMB8_ENST00000395339.3_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8						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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TGCCTTTTCCGAGAAAAGGAC	0.567																																					NSCLC(48;53 1172 10859 13624 22883)												0																																										SO:0001631	upstream_gene_variant	100507463				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285		6.37:g.32811885G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	RNA	SNP	-	NULL	ENST00000374882.3	37	NULL	CCDS4757.1	6																																																																																			XXbac-BPG246D15.8	-	-		0.567	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507463	Clone_based_vega_gene	protein_coding	OTTHUMT00000076617.3	G	NM_148919		32811885	+1	no_errors	ENST00000453426	ensembl	human	known	70_37	rna	SNP	0.023	C
LTF	4057	genome.wustl.edu	37	3	46497810	46497810	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:46497810C>A	ENST00000231751.4	-	3	581	c.286G>T	c.(286-288)Gta>Tta	p.V96L	LTF_ENST00000417439.1_Missense_Mutation_p.V96L|LTF_ENST00000426532.2_Missense_Mutation_p.V52L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	96	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TCCGCCGCTACAGGTCGCAGT	0.582																																																	0													77.0	72.0	73.0					3																	46497810		2203	4300	6503	SO:0001583	missense	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.286G>T	3.37:g.46497810C>A	ENSP00000231751:p.Val96Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.V96L	ENST00000231751.4	37	c.286	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876520	0.51801	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	4.35	0.407	0.16371	.	0.152686	0.56097	D	0.000027	T	0.48466	0.1501	M	0.78344	2.41	0.09310	N	1	P;P;P	0.37038	0.579;0.463;0.579	P;B;P	0.46585	0.521;0.252;0.521	T	0.47005	-0.9150	10	0.87932	D	0	-9.8072	6.945	0.24514	0.0:0.5042:0.0:0.4958	.	96;83;96	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	L	96;52;96;83;96;107;52	ENSP00000231751:V96L;ENSP00000405719:V52L;ENSP00000405546:V96L;ENSP00000397427:V83L;ENSP00000395234:V107L;ENSP00000400254:V52L	ENSP00000231751:V96L	V	-	1	0	LTF	46472814	0.012000	0.17670	0.001000	0.08648	0.003000	0.03518	0.058000	0.14301	0.157000	0.19338	0.655000	0.94253	GTA	LTF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin		0.582	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	C	NM_002343		46497810	-1	no_errors	ENST00000231751	ensembl	human	known	70_37	missense	SNP	0.073	A
MAP3K7	6885	genome.wustl.edu	37	6	91254329	91254329	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:91254329G>A	ENST00000369329.3	-	12	1394	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Silent_p.G411G|MAP3K7_ENST00000369332.3_Intron|MAP3K7_ENST00000369327.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	411					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTTACGGTGGCCCCGTTTAG	0.413																																																	0													124.0	119.0	120.0					6																	91254329		2203	4300	6503	SO:0001819	synonymous_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1233C>T	6.37:g.91254329G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	pirsf_MAPKKK7,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.G411	ENST00000369329.3	37	c.1233	CCDS5028.1	6																																																																																			MAP3K7	-	pirsf_MAPKKK7		0.413	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	G	NM_145331		91254329	-1	no_errors	ENST00000369329	ensembl	human	known	70_37	silent	SNP	1.000	A
MSL1	339287	genome.wustl.edu	37	17	38278923	38278923	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:38278923G>A	ENST00000398532.4	+	1	373	c.58G>A	c.(58-60)Gag>Aag	p.E20K	MSL1_ENST00000579565.1_5'UTR|MSL1_ENST00000577454.1_Missense_Mutation_p.E20K|MSL1_ENST00000578648.1_Missense_Mutation_p.E20K	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	20					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CGGCAATCCTGAGCAGCGACT	0.726																																																	0																																										SO:0001583	missense	339287				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.58G>A	17.37:g.38278923G>A	ENSP00000381543:p.Glu20Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF46|Q69Z03	Missense_Mutation	SNP	NULL	p.E20K	ENST00000398532.4	37	c.58		17	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269817	0.40095	.	.	ENSG00000188895	ENST00000398532	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	T	0.53850	0.1822	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45948	-0.9226	5	0.22706	T	0.39	-10.7346	10.0045	0.41949	0.0:0.2068:0.7932:0.0	.	.	.	.	K	20	.	ENSP00000381543:E20K	E	+	1	0	MSL1	35532449	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.629000	0.61290	1.567000	0.49668	0.298000	0.19748	GAG	MSL1	-	NULL		0.726	MSL1-003	KNOWN	basic	protein_coding	MSL1	HGNC	protein_coding	OTTHUMT00000447409.2	G	NM_001012241		38278923	+1	no_errors	ENST00000398532	ensembl	human	known	70_37	missense	SNP	0.957	A
MT-ND5	4540	genome.wustl.edu	37	M	13359	13359	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrM:13359G>A	ENST00000361567.2	+	1	1023	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	341					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ATACTATTTATGTGCTCCGGG	0.438																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1023G>A	M.37:g.13359G>A	ENSP00000354813:p.Met341Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.M341	ENST00000361567.2	37	c.1023		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.438	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13359	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	silent	SNP	NULL	A
MTF1	4520	genome.wustl.edu	37	1	38289394	38289394	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr1:38289394G>A	ENST00000373036.4	-	8	1299	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	387					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCTGTTGAGGATCTTCCTGA	0.448																																																	0													176.0	135.0	149.0					1																	38289394		2203	4300	6503	SO:0001583	missense	4520			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.1159C>T	1.37:g.38289394G>A	ENSP00000362127:p.Pro387Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAK6|Q96CB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P387S	ENST00000373036.4	37	c.1159	CCDS30676.1	1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524960	0.27299	.	.	ENSG00000188786	ENST00000373036	T	0.09911	2.93	5.3	2.03	0.26663	.	0.243530	0.42682	D	0.000668	T	0.04497	0.0123	N	0.12746	0.255	0.30539	N	0.76666	B	0.02656	0.0	B	0.01281	0.0	T	0.13791	-1.0496	10	0.45353	T	0.12	.	1.0287	0.01533	0.1475:0.1715:0.2812:0.3998	.	387	Q14872	MTF1_HUMAN	S	387	ENSP00000362127:P387S	ENSP00000362127:P387S	P	-	1	0	MTF1	38061981	0.999000	0.42202	1.000000	0.80357	0.686000	0.39977	0.926000	0.28804	1.204000	0.43247	0.563000	0.77884	CCT	MTF1	-	NULL		0.448	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2	G	NM_005955		38289394	-1	no_errors	ENST00000373036	ensembl	human	known	70_37	missense	SNP	0.991	A
NAGS	162417	genome.wustl.edu	37	17	42084059	42084059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:42084059G>T	ENST00000293404.3	+	4	1196	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	360	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGCTCACTGAGCTCTTTAG	0.677																																																	0													19.0	17.0	17.0					17																	42084059		2184	4260	6444	SO:0001587	stop_gained	162417			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1078G>T	17.37:g.42084059G>T	ENSP00000293404:p.Glu360*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAZ9|Q8IWR4	Nonsense_Mutation	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.E360*	ENST00000293404.3	37	c.1078	CCDS11473.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.919634	0.97105	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	.	.	.	5.11	3.08	0.35506	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-33.5258	7.3003	0.26415	0.09:0.0:0.7391:0.171	.	.	.	.	X	194;360	.	ENSP00000293404:E360X	E	+	1	0	NAGS	39439585	1.000000	0.71417	0.845000	0.33349	0.916000	0.54674	6.184000	0.72008	1.117000	0.41842	0.561000	0.74099	GAG	NAGS	-	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,pirsf_GlcNAc_Synth_met		0.677	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1	G	NM_153006		42084059	+1	no_errors	ENST00000293404	ensembl	human	known	70_37	nonsense	SNP	0.973	T
NPAP1	23742	genome.wustl.edu	37	15	24922847	24922847	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:24922847G>A	ENST00000329468.2	+	1	2307	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	611					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGCAGAGCAGAGGCACCCGG	0.463																																																	0													86.0	98.0	94.0					15																	24922847		2203	4300	6503	SO:0001819	synonymous_variant	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1833G>A	15.37:g.24922847G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.Q611	ENST00000329468.2	37	c.1833	CCDS10015.1	15																																																																																			NPAP1	-	NULL		0.463	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	G	NM_018958		24922847	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	silent	SNP	0.006	A
OPN5	221391	genome.wustl.edu	37	6	47749898	47749898	+	Silent	SNP	G	G	A	rs375496580		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:47749898G>A	ENST00000371211.2	+	1	124	c.96G>A	c.(94-96)gcG>gcA	p.A32A	OPN5_ENST00000393699.2_Silent_p.A32A|OPN5_ENST00000489301.2_Silent_p.A32A	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	32					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTTGGGAAGCGGATTTAGTGG	0.443																																					Melanoma(28;740 973 10870 42660 45347)												0													116.0	109.0	111.0					6																	47749898		2203	4300	6503	SO:0001819	synonymous_variant	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.96G>A	6.37:g.47749898G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.A32	ENST00000371211.2	37	c.96	CCDS4923.1	6																																																																																			OPN5	-	NULL		0.443	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	G	NM_181744		47749898	+1	no_errors	ENST00000371211	ensembl	human	known	70_37	silent	SNP	0.988	A
OR13H1	347468	genome.wustl.edu	37	X	130678497	130678497	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:130678497G>A	ENST00000338616.3	+	1	548	c.450G>A	c.(448-450)ggG>ggA	p.G150G		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCTCATGGGGGACATCACTTG	0.507																																																	0													262.0	215.0	231.0					X																	130678497		2203	4300	6503	SO:0001819	synonymous_variant	347468				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.450G>A	X.37:g.130678497G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNQ3|Q6IET8|Q96R12	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G150	ENST00000338616.3	37	c.450	CCDS35396.1	X																																																																																			OR13H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	HGNC	protein_coding	OTTHUMT00000058297.1	G			130678497	+1	no_errors	ENST00000338616	ensembl	human	known	70_37	silent	SNP	0.006	A
OR6Q1	219952	genome.wustl.edu	37	11	57799064	57799064	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:57799064T>G	ENST00000302622.3	+	1	663	c.640T>G	c.(640-642)Tcc>Gcc	p.S214A	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCTACTGGCCTCCTCTATGGT	0.552																																																	0													197.0	168.0	178.0					11																	57799064		2201	4296	6497	SO:0001583	missense	219952			AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.640T>G	11.37:g.57799064T>G	ENSP00000307734:p.Ser214Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S214A	ENST00000302622.3	37	c.640	CCDS31541.1	11	.	.	.	.	.	.	.	.	.	.	T	7.810	0.715437	0.15306	.	.	ENSG00000172381	ENST00000302622	T	0.37235	1.21	5.0	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002088	T	0.31420	0.0796	L	0.60845	1.875	0.09310	N	1	P	0.37207	0.587	B	0.37091	0.241	T	0.14643	-1.0465	10	0.32370	T	0.25	.	7.2262	0.26016	0.0:0.1762:0.0:0.8238	.	214	Q8NGQ2	OR6Q1_HUMAN	A	214	ENSP00000307734:S214A	ENSP00000307734:S214A	S	+	1	0	OR6Q1	57555640	0.000000	0.05858	0.042000	0.18584	0.122000	0.20287	-0.298000	0.08265	0.777000	0.33496	0.519000	0.50382	TCC	OR6Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Q1	HGNC	protein_coding	OTTHUMT00000401257.1	T	NM_001005186		57799064	+1	no_errors	ENST00000302622	ensembl	human	known	70_37	missense	SNP	0.043	G
OR8D4	338662	genome.wustl.edu	37	11	123777849	123777849	+	Silent	SNP	G	G	A	rs568693746		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:123777849G>A	ENST00000321355.2	+	1	741	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	237						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(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GGTGCAAAGCGTTTAGCACCT	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18269	0.0		0.0	False		,,,				2504	0.0																0													113.0	112.0	113.0					11																	123777849		2202	4299	6501	SO:0001819	synonymous_variant	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.711G>A	11.37:g.123777849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFE9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237	ENST00000321355.2	37	c.711	CCDS31698.1	11																																																																																			OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.458	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1	G	NM_001005197		123777849	+1	no_errors	ENST00000321355	ensembl	human	known	70_37	silent	SNP	0.962	A
PALLD	23022	genome.wustl.edu	37	4	169819769	169819769	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:169819769G>T	ENST00000505667.1	+	14	2549	c.2376G>T	c.(2374-2376)atG>atT	p.M792I	PALLD_ENST00000507735.1_Missense_Mutation_p.M288I|PALLD_ENST00000261509.6_Missense_Mutation_p.M775I|PALLD_ENST00000512127.1_Missense_Mutation_p.M393I|PALLD_ENST00000335742.7_Missense_Mutation_p.M617I|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	999	Interaction with EPS8. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AAAATGGAATGGCACCATTCT	0.428									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													149.0	136.0	140.0					4																	169819769		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2376G>T	4.37:g.169819769G>T	ENSP00000425556:p.Met792Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M775I	ENST00000505667.1	37	c.2325	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.060901	0.00386	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000510998;ENST00000393726;ENST00000507735	T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;0.73;1.62;-0.58	5.55	2.35	0.29111	Immunoglobulin-like fold (1);	1.368100	0.05529	U	0.563542	T	0.45875	0.1364	N	0.02539	-0.55	0.52099	D	0.999947	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	0.15983	-1.0418	10	0.22109	T	0.4	.	8.5636	0.33525	0.3463:0.0:0.6537:0.0	.	792;999;393;775	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	I	775;617;792;393;68;68;288	ENSP00000261509:M775I;ENSP00000336735:M617I;ENSP00000425556:M792I;ENSP00000426947:M393I;ENSP00000422135:M68I;ENSP00000377327:M68I;ENSP00000424016:M288I	ENSP00000261509:M775I	M	+	3	0	PALLD	170056344	0.761000	0.28439	0.284000	0.24805	0.047000	0.14425	1.081000	0.30791	0.466000	0.27193	-0.224000	0.12420	ATG	PALLD	-	NULL		0.428	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	G	NM_016081		169819769	+1	no_errors	ENST00000261509	ensembl	human	known	70_37	missense	SNP	0.441	T
PHACTR1	221692	genome.wustl.edu	37	6	13206350	13206350	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:13206350C>T	ENST00000379350.1	+	7	1097	c.968C>T	c.(967-969)aCc>aTc	p.T323I	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.T178I|PHACTR1_ENST00000332995.7_Missense_Mutation_p.T323I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	323					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTGGCCATGACCATGCAGAGG	0.637																																																	0													14.0	15.0	15.0					6																	13206350		1986	4159	6145	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.968C>T	6.37:g.13206350C>T	ENSP00000368655:p.Thr323Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.T392I	ENST00000379350.1	37	c.1175		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.916925|3.916925	0.73098|0.73098	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702	.|T;T;T	.|0.36878	.|1.23;1.29;1.26	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.111681	.|0.64402	.|D	.|0.000008	T|T	0.37785|0.37785	0.1016|0.1016	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.995;0.995;0.998	.|D;P;D	.|0.71184	.|0.972;0.72;0.917	T|T	0.40098|0.40098	-0.9581|-0.9581	5|10	.|0.72032	.|D	.|0.01	-16.7522|-16.7522	17.1412|17.1412	0.86754|0.86754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|392;323;323	.|E7ESR5;Q9C0D0;Q9C0D0-2	.|.;PHAR1_HUMAN;.	S|I	158|323;323;392;178	.|ENSP00000368655:T323I;ENSP00000329880:T323I;ENSP00000397669:T178I	.|ENSP00000329880:T323I	P|T	+|+	1|2	0|0	PHACTR1|PHACTR1	13314329|13314329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.007000|7.007000	0.76335|0.76335	2.503000|2.503000	0.84419|0.84419	0.561000|0.561000	0.74099|0.74099	CCA|ACC	PHACTR1	-	NULL		0.637	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	C	XM_166420		13206350	+1	no_errors	ENST00000432934	ensembl	human	known	70_37	missense	SNP	1.000	T
PHKA2	5256	genome.wustl.edu	37	X	19002029	19002029	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:19002029C>T	ENST00000379942.4	-	1	687	c.22G>A	c.(22-24)Ggg>Agg	p.G8R		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	8					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|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)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGCGGACCCCGGAATTGCTC	0.697																																																	0													70.0	58.0	63.0					X																	19002029		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.22G>A	X.37:g.19002029C>T	ENSP00000369274:p.Gly8Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.G8R	ENST00000379942.4	37	c.22	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.144077	0.94603	.	.	ENSG00000044446	ENST00000379942	D	0.90444	-2.67	4.82	4.82	0.62117	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.092042	0.85682	D	0.000000	D	0.94843	0.8334	M	0.88105	2.93	0.80722	D	1	D	0.56035	0.974	P	0.57679	0.825	D	0.95558	0.8627	10	0.72032	D	0.01	-11.2777	14.3777	0.66889	0.0:1.0:0.0:0.0	.	8	P46019	KPB2_HUMAN	R	8	ENSP00000369274:G8R	ENSP00000369274:G8R	G	-	1	0	PHKA2	18911950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.716000	0.61916	2.387000	0.81309	0.544000	0.68410	GGG	PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like		0.697	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	C	NM_000292		19002029	-1	no_errors	ENST00000379942	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3AP1	118788	genome.wustl.edu	37	10	98355335	98355335	+	Nonstop_Mutation	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:98355335C>G	ENST00000339364.5	-	17	2536	c.2417G>C	c.(2416-2418)tGa>tCa	p.*806S	PIK3AP1_ENST00000371109.3_Nonstop_Mutation_p.*405S|PIK3AP1_ENST00000371110.2_Nonstop_Mutation_p.*628S	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	0					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GAGGTGGAATCAGCGTCCTCT	0.433																																																	0													131.0	119.0	123.0					10																	98355335		2203	4300	6503	SO:0001578	stop_lost	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2417G>C	10.37:g.98355335C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Nonstop_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.*806S	ENST00000339364.5	37	c.2417	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658679	0.67586	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1861	0.73002	0.0:1.0:0.0:0.0	.	.	.	.	S	806;628;405	.	.	X	-	2	2	PIK3AP1	98345325	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	4.021000	0.57196	2.659000	0.90383	0.563000	0.77884	TGA	PIK3AP1	-	NULL		0.433	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98355335	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	nonstop	SNP	1.000	G
PIK3R4	30849	genome.wustl.edu	37	3	130435286	130435286	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr3:130435286G>A	ENST00000356763.3	-	9	2842	c.2285C>T	c.(2284-2286)cCa>cTa	p.P762L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	762					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGATCCTCTGGCGGAGGGCA	0.408																																																	0													88.0	94.0	92.0					3																	130435286		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.2285C>T	3.37:g.130435286G>A	ENSP00000349205:p.Pro762Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TBF4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P762L	ENST00000356763.3	37	c.2285	CCDS3067.1	3	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843642	0.51164	.	.	ENSG00000196455	ENST00000356763;ENST00000508273;ENST00000507330;ENST00000512430	T;T;T;T	0.58797	1.07;0.91;0.31;0.37	5.21	5.21	0.72293	.	0.053101	0.85682	D	0.000000	T	0.55657	0.1934	L	0.59436	1.845	0.80722	D	1	B	0.29115	0.233	B	0.22601	0.04	T	0.55347	-0.8155	10	0.41790	T	0.15	-20.3706	18.7681	0.91881	0.0:0.0:1.0:0.0	.	762	Q99570	PI3R4_HUMAN	L	762;121;121;121	ENSP00000349205:P762L;ENSP00000427302:P121L;ENSP00000424274:P121L;ENSP00000422767:P121L	ENSP00000349205:P762L	P	-	2	0	PIK3R4	131917976	1.000000	0.71417	0.091000	0.20842	0.508000	0.34012	9.476000	0.97823	2.439000	0.82584	0.655000	0.94253	CCA	PIK3R4	-	NULL		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	G	NM_014602		130435286	-1	no_errors	ENST00000356763	ensembl	human	known	70_37	missense	SNP	0.998	A
PPP2R3B	28227	genome.wustl.edu	37	X	301537	301537	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:301537G>A	ENST00000390665.3	-	10	1332	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	438					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		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)				GCATCTGGCAGAGGCAGTCCT	0.662																																																	0													120.0	84.0	96.0					X																	301537		2191	4285	6476	SO:0001819	synonymous_variant	28227			AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1314C>T	X.37:g.301537G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	pfscan_EF_HAND_2	p.L438	ENST00000390665.3	37	c.1314	CCDS14104.1	X																																																																																			PPP2R3B	-	NULL		0.662	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	HGNC	protein_coding	OTTHUMT00000055577.2	G	NM_013239		301537	-1	no_errors	ENST00000390665	ensembl	human	known	70_37	silent	SNP	0.995	A
PNMA5	114824	genome.wustl.edu	37	X	152159505	152159505	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:152159505C>T	ENST00000439251.1	-	2	1076	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	PNMA5_ENST00000535214.1_Missense_Mutation_p.R213Q|PNMA5_ENST00000452693.1_Missense_Mutation_p.R213Q|PNMA5_ENST00000361887.5_Missense_Mutation_p.R213Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	213					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)					CTGGAGCACCCGCATGATTGA	0.527																																																	0													76.0	71.0	73.0					X																	152159505		2203	4300	6503	SO:0001583	missense	114824			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.638G>A	X.37:g.152159505C>T	ENSP00000388850:p.Arg213Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.R213Q	ENST00000439251.1	37	c.638	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640467	0.29157	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	3.31	1.38	0.22167	.	.	.	.	.	T	0.06142	0.0159	L	0.42744	1.35	0.09310	N	1	P	0.36048	0.534	B	0.21708	0.036	T	0.36553	-0.9743	9	0.16420	T	0.52	.	3.6028	0.08031	0.0:0.5824:0.2588:0.1588	.	213	Q96PV4	PNMA5_HUMAN	Q	213	ENSP00000354834:R213Q;ENSP00000445775:R213Q;ENSP00000388850:R213Q;ENSP00000392342:R213Q	ENSP00000354834:R213Q	R	-	2	0	PNMA5	151910161	0.000000	0.05858	0.000000	0.03702	0.261000	0.26267	0.218000	0.17622	0.242000	0.21303	0.468000	0.43344	CGG	PNMA5	-	NULL		0.527	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	HGNC	protein_coding	OTTHUMT00000060925.1	C	NM_052926		152159505	-1	no_errors	ENST00000361887	ensembl	human	known	70_37	missense	SNP	0.000	T
RBBP8	5932	genome.wustl.edu	37	18	20576348	20576348	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr18:20576348G>C	ENST00000399722.2	+	13	2302	c.1951G>C	c.(1951-1953)Gaa>Caa	p.E651Q	RBBP8_ENST00000399725.2_Missense_Mutation_p.E651Q|RBBP8_ENST00000360790.5_Missense_Mutation_p.E651Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E651Q	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	651					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)			TGTATCCTTTGAAAATATCCA	0.308								Homologous recombination																																									0													65.0	68.0	67.0					18																	20576348		2203	4299	6502	SO:0001583	missense	5932			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.1951G>C	18.37:g.20576348G>C	ENSP00000382628:p.Glu651Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.E651Q	ENST00000399722.2	37	c.1951	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261068	0.59431	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T	0.39406	1.14;1.08;1.14;1.14	6.02	6.02	0.97574	.	0.142736	0.49305	D	0.000155	T	0.61022	0.2314	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.969;0.998;0.969	P;P;P	0.58620	0.621;0.842;0.621	T	0.60505	-0.7250	10	0.72032	D	0.01	-24.9235	20.5407	0.99260	0.0:0.0:1.0:0.0	.	651;651;651	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	Q	651	ENSP00000323050:E651Q;ENSP00000382630:E651Q;ENSP00000382628:E651Q;ENSP00000354024:E651Q	ENSP00000323050:E651Q	E	+	1	0	RBBP8	18830346	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.740000	0.74832	2.865000	0.98341	0.655000	0.94253	GAA	RBBP8	-	NULL		0.308	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	G	NM_203291		20576348	+1	no_errors	ENST00000327155	ensembl	human	known	70_37	missense	SNP	1.000	C
RBFOX1	54715	genome.wustl.edu	37	16	7645614	7645614	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr16:7645614G>A	ENST00000550418.1	+	8	1520	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	RBFOX1_ENST00000355637.4_Missense_Mutation_p.G198S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G198S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G195S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G221S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G198S|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G183S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G178S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G178S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G221S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	178	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GAAATTACACGGCACCGTGGT	0.453																																					Ovarian(157;934 2567 15163 39509)												0													175.0	155.0	162.0					16																	7645614		2197	4300	6497	SO:0001583	missense	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.532G>A	16.37:g.7645614G>A	ENSP00000450031:p.Gly178Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.G221S	ENST00000550418.1	37	c.661	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321730	0.81580	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.83223	2.63	0.80722	D	1	P;P;D;P;D;P;D;D	0.89917	0.582;0.9;1.0;0.946;1.0;0.716;0.988;0.986	B;P;D;P;D;B;P;P	0.97110	0.248;0.49;1.0;0.476;0.997;0.358;0.746;0.742	T	0.75246	-0.3385	10	0.59425	D	0.04	-9.0831	19.975	0.97300	0.0:0.0:1.0:0.0	.	198;221;198;198;198;178;178;221	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	S	177;178;178;221;221;195;178;178;198;198;198;198;183	ENSP00000450402:G177S;ENSP00000450031:G178S;ENSP00000447753:G178S;ENSP00000446842:G221S;ENSP00000391269:G221S;ENSP00000448496:G195S;ENSP00000447281:G178S;ENSP00000447717:G178S;ENSP00000402745:G198S;ENSP00000309117:G198S;ENSP00000347855:G198S;ENSP00000344196:G183S	ENSP00000309117:G198S	G	+	1	0	RBFOX1	7585615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.724000	0.93272	0.585000	0.79938	GGC	RBFOX1	-	pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom		0.453	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	G	NM_145891		7645614	+1	no_errors	ENST00000547372	ensembl	human	known	70_37	missense	SNP	1.000	A
RBMXL3	139804	genome.wustl.edu	37	X	114424716	114424716	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:114424716C>T	ENST00000424776.3	+	1	754	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	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	238							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CTCAGGCCCGCGGGTCCGGGA	0.682																																																	0													4.0	5.0	5.0					X																	114424716		646	1504	2150	SO:0001583	missense	139804			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.712C>T	X.37:g.114424716C>T	ENSP00000417451:p.Arg238Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXC0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R238W	ENST00000424776.3	37	c.712	CCDS55478.1	X	.	.	.	.	.	.	.	.	.	.	c	11.77	1.739018	0.30774	.	.	ENSG00000175718	ENST00000424776	T	0.04275	3.66	0.562	0.562	0.17290	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.50710	0.938	B	0.28991	0.097	T	0.47142	-0.9140	9	0.87932	D	0	.	3.4663	0.07550	0.4488:0.5511:1.0E-4:0.0	.	238	Q8N7X1	RMXL3_HUMAN	W	238	ENSP00000417451:R238W	ENSP00000417451:R238W	R	+	1	2	RBMXL3	114330972	0.844000	0.29557	0.000000	0.03702	0.000000	0.00434	-0.104000	0.10923	0.518000	0.28383	0.380000	0.24917	CGG	RBMXL3	-	NULL		0.682	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	C	NM_001145346		114424716	+1	no_errors	ENST00000424776	ensembl	human	known	70_37	missense	SNP	0.000	T
RELN	5649	genome.wustl.edu	37	7	103243750	103243750	+	Splice_Site	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:103243750C>G	ENST00000428762.1	-	24	3493		c.e24+1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGGTCATACCTTGCTGAAG	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													133.0	113.0	119.0					7																	103243750		2203	4300	6503	SO:0001630	splice_region_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3333+1G>C	7.37:g.103243750C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	-	e24+1	ENST00000428762.1	37	c.3333+1	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872389	0.91587	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103030986	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.270000	0.78493	2.550000	0.86006	0.655000	0.94253	.	RELN	-	-		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045	Intron	103243750	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SALL4	57167	genome.wustl.edu	37	20	50407220	50407220	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr20:50407220C>T	ENST00000217086.4	-	2	1913	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	601					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAAGGCTCGGCCACAGAT	0.522																																																	0													72.0	66.0	68.0					20																	50407220		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1802G>A	20.37:g.50407220C>T	ENSP00000217086:p.Arg601Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R601Q	ENST00000217086.4	37	c.1802	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962129	0.92791	.	.	ENSG00000101115	ENST00000217086	T	0.18960	2.18	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.188633	0.26362	N	0.024809	T	0.32194	0.0821	N	0.11845	0.185	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.34354	-0.9832	10	0.87932	D	0	-1.8198	19.8057	0.96531	0.0:1.0:0.0:0.0	.	601	Q9UJQ4	SALL4_HUMAN	Q	601	ENSP00000217086:R601Q	ENSP00000217086:R601Q	R	-	2	0	SALL4	49840627	1.000000	0.71417	0.578000	0.28575	0.886000	0.51366	6.087000	0.71362	2.677000	0.91161	0.650000	0.86243	CGA	SALL4	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	C			50407220	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	missense	SNP	0.984	T
SCN2B	6327	genome.wustl.edu	37	11	118037789	118037789	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:118037789C>T	ENST00000278947.5	-	4	702	c.461G>A	c.(460-462)cGg>cAg	p.R154Q		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	154	Ig-like C2-type.				cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	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;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTGGAGTCCCGCTCAGGGGG	0.617																																																	0													60.0	61.0	61.0					11																	118037789		2200	4296	6496	SO:0001583	missense	6327			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10589	protein-coding gene	gene with protein product		601327	"""sodium channel, voltage-gated, type II, beta polypeptide"", ""sodium channel, voltage-gated, type II, beta"""			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.461G>A	11.37:g.118037789C>T	ENSP00000278947:p.Arg154Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75302|Q9UNN3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0	p.R154Q	ENST00000278947.5	37	c.461	CCDS8390.1	11	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682862	0.88542	.	.	ENSG00000149575	ENST00000278947	D	0.97186	-4.28	5.04	5.04	0.67666	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95968	0.8687	L	0.57536	1.79	0.80722	D	1	D	0.60160	0.987	P	0.45377	0.478	D	0.94772	0.7946	10	0.25106	T	0.35	-25.2394	18.1626	0.89714	0.0:1.0:0.0:0.0	.	154	O60939	SCN2B_HUMAN	Q	154	ENSP00000278947:R154Q	ENSP00000278947:R154Q	R	-	2	0	SCN2B	117542999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.818000	0.62657	2.640000	0.89533	0.655000	0.94253	CGG	SCN2B	-	NULL		0.617	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN2B	HGNC	protein_coding	OTTHUMT00000109748.2	C	NM_004588		118037789	-1	no_errors	ENST00000278947	ensembl	human	known	70_37	missense	SNP	1.000	T
SERPINA4	5267	genome.wustl.edu	37	14	95030000	95030000	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr14:95030000C>T	ENST00000557004.1	+	2	602	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R61C|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R61C			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	61					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTTGCCTTCCGCTTCTACTA	0.592																																																	0													84.0	77.0	80.0					14																	95030000		2203	4300	6503	SO:0001583	missense	5267			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.181C>T	14.37:g.95030000C>T	ENSP00000450838:p.Arg61Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R61C	ENST00000557004.1	37	c.181	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843602	0.51164	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85411	-1.98;-1.98;-1.98	4.38	-2.21	0.06973	Serpin domain (3);	0.695493	0.11957	N	0.513120	D	0.88455	0.6441	M	0.69523	2.12	0.09310	N	1	D;D	0.76494	0.999;0.964	D;B	0.67725	0.953;0.397	T	0.78902	-0.2021	10	0.66056	D	0.02	.	6.7059	0.23250	0.5848:0.2538:0.0:0.1613	.	61;61	B2R815;P29622	.;KAIN_HUMAN	C	61	ENSP00000450838:R61C;ENSP00000451172:R61C;ENSP00000298841:R61C	ENSP00000298841:R61C	R	+	1	0	SERPINA4	94099753	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-2.170000	0.01268	-0.283000	0.09115	0.563000	0.77884	CGC	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.592	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	C	NM_006215		95030000	+1	no_errors	ENST00000298841	ensembl	human	known	70_37	missense	SNP	0.002	T
SFMBT2	57713	genome.wustl.edu	37	10	7318929	7318929	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr10:7318929G>A	ENST00000361972.4	-	7	885	c.795C>T	c.(793-795)gcC>gcT	p.A265A	SFMBT2_ENST00000397167.1_Silent_p.A265A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	265					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCATTCAGAGGCCATCTTCA	0.403																																																	0													142.0	136.0	138.0					10																	7318929		2203	4300	6503	SO:0001819	synonymous_variant	57713			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.795C>T	10.37:g.7318929G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.A265	ENST00000361972.4	37	c.795	CCDS31138.1	10																																																																																			SFMBT2	-	NULL		0.403	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	G	NM_001029880		7318929	-1	no_errors	ENST00000361972	ensembl	human	known	70_37	silent	SNP	0.871	A
SLC24A1	9187	genome.wustl.edu	37	15	65918097	65918097	+	Missense_Mutation	SNP	G	G	A	rs373174484		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr15:65918097G>A	ENST00000261892.6	+	2	1966	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H	SLC24A1_ENST00000544319.2_Missense_Mutation_p.R560H|SLC24A1_ENST00000537259.1_Missense_Mutation_p.R560H|SLC24A1_ENST00000399033.4_Missense_Mutation_p.R560H|SLC24A1_ENST00000339868.6_Missense_Mutation_p.R560H|SLC24A1_ENST00000546330.1_Missense_Mutation_p.R560H	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	560					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						CCCTTATTCCGTGATGTCTCC	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23754	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG	0,4296		0,0,2148	284.0	280.0	281.0		1679	5.9	1.0	15		281	1,8541		0,1,4270	no	missense	SLC24A1	NM_004727.2	29	0,1,6418	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	560/1100	65918097	1,12837	2148	4271	6419	SO:0001583	missense	9187			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.1679G>A	15.37:g.65918097G>A	ENSP00000261892:p.Arg560His	Somatic		WXS	Illumina HiSeq	Phase_IV	O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.R560H	ENST00000261892.6	37	c.1679	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.315455	0.95655	0.0	1.17E-4	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.92	5.92	0.95590	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.88239	0.6383	H	0.98507	4.25	0.58432	D	0.999997	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;1.0;1.0;1.0	D	0.92122	0.5705	10	0.87932	D	0	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	560;560;560;560;560	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	H	560	ENSP00000439693:R560H;ENSP00000261892:R560H;ENSP00000341837:R560H;ENSP00000445163:R560H;ENSP00000381991:R560H;ENSP00000439190:R560H	ENSP00000261892:R560H	R	+	2	0	SLC24A1	63705151	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	9.808000	0.99193	2.808000	0.96608	0.561000	0.74099	CGT	SLC24A1	-	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger		0.522	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	G	NM_004727		65918097	+1	no_errors	ENST00000261892	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC6A8	6535	genome.wustl.edu	37	X	152954233	152954233	+	Silent	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:152954233C>T	ENST00000253122.5	+	1	680	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	68					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F68F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GCGTGGGCTTCGCCGTGGGCT	0.731																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											31.0	25.0	27.0					X																	152954233		2201	4297	6498	SO:0001819	synonymous_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.204C>T	X.37:g.152954233C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.F68	ENST00000253122.5	37	c.204	CCDS14726.1	X																																																																																			SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.731	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	C			152954233	+1	no_errors	ENST00000253122	ensembl	human	known	70_37	silent	SNP	0.998	T
SLC7A4	6545	genome.wustl.edu	37	22	21385831	21385831	+	Missense_Mutation	SNP	C	C	T	rs9613553		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr22:21385831C>T	ENST00000382932.2	-	2	338	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.E91K	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	91					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCCCCAAATTCTGCATAGCAT	0.627																																																	0													62.0	47.0	52.0					22																	21385831		2203	4300	6503	SO:0001583	missense	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.271G>A	22.37:g.21385831C>T	ENSP00000372390:p.Glu91Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.E91K	ENST00000382932.2	37	c.271	CCDS33608.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.473802	0.96291	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.95001	-3.58;-3.58	5.39	5.39	0.77823	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99433	1.0936	10	0.87932	D	0	.	17.0217	0.86435	0.0:1.0:0.0:0.0	rs9613553	91	O43246	CTR4_HUMAN	K	91	ENSP00000384278:E91K;ENSP00000372390:E91K	ENSP00000372390:E91K	E	-	1	0	SLC7A4	19715831	1.000000	0.71417	0.950000	0.38849	0.881000	0.50899	7.386000	0.79775	2.684000	0.91462	0.561000	0.74099	GAA	SLC7A4	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.627	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A4	HGNC	protein_coding	OTTHUMT00000320467.1	C	NM_004173		21385831	-1	no_errors	ENST00000382932	ensembl	human	known	70_37	missense	SNP	1.000	T
SLITRK2	84631	genome.wustl.edu	37	X	144905446	144905446	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:144905446G>A	ENST00000370490.1	+	1	5758	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	SLITRK2_ENST00000447897.2_Silent_p.L501L|SLITRK2_ENST00000413937.2_Silent_p.L501L|SLITRK2_ENST00000428560.2_Silent_p.L501L|SLITRK2_ENST00000434188.2_Silent_p.L501L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	501					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGAATCTGAGAAACAACC	0.483																																																	0													92.0	97.0	95.0					X																	144905446		2203	4300	6503	SO:0001819	synonymous_variant	84631			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1503G>A	X.37:g.144905446G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L501	ENST00000370490.1	37	c.1503	CCDS14680.1	X																																																																																			SLITRK2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.483	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	G	NM_032539		144905446	+1	no_errors	ENST00000370490	ensembl	human	known	70_37	silent	SNP	1.000	A
SMEK2	57223	genome.wustl.edu	37	2	55804494	55804494	+	Splice_Site	SNP	T	T	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:55804494T>C	ENST00000345102.5	-	11	1866		c.e11-2		SMEK2_ENST00000407823.3_Splice_Site|SMEK2_ENST00000272313.5_Splice_Site	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			Ctatattatctaataaaaaaa	0.239																																																	0													13.0	14.0	14.0					2																	55804494		2132	4217	6349	SO:0001630	splice_region_variant	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1565-2A>G	2.37:g.55804494T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Splice_Site	SNP	-	e10-2	ENST00000345102.5	37	c.1469-2	CCDS46289.1	2																																																																																			SMEK2	-	-		0.239	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	T	NM_020463	Intron	55804494	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	splice_site	SNP	0.997	C
SPATA32	124783	genome.wustl.edu	37	17	43333141	43333141	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:43333141G>A	ENST00000331780.4	-	4	503	c.408C>T	c.(406-408)ttC>ttT	p.F136F	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|SPATA32_ENST00000543122.1_Silent_p.F115F|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	136					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.F136F(1)									TCTCCTCCGTGAAACTCCGGC	0.567																																																	1	Substitution - coding silent(1)	lung(1)											97.0	94.0	95.0					17																	43333141		2203	4300	6503	SO:0001819	synonymous_variant	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.408C>T	17.37:g.43333141G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.F136	ENST00000331780.4	37	c.408	CCDS32669.1	17																																																																																			SPATA32	-	NULL		0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43333141	-1	no_errors	ENST00000331780	ensembl	human	known	70_37	silent	SNP	0.000	A
SYNE1	23345	genome.wustl.edu	37	6	152639379	152639379	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:152639379T>C	ENST00000367255.5	-	86	17010	c.16409A>G	c.(16408-16410)gAt>gGt	p.D5470G	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5399G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5470G|SYNE1_ENST00000356820.4_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5399G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5470					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTACAGCCATCTAATTCCTC	0.398										HNSCC(10;0.0054)																																							0													100.0	91.0	94.0					6																	152639379		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16409A>G	6.37:g.152639379T>C	ENSP00000356224:p.Asp5470Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D5470G	ENST00000367255.5	37	c.16409	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342512	0.41498	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.64618	-0.02;0.05;-0.11;0.05	5.76	5.76	0.90799	.	0.085711	0.49916	D	0.000136	T	0.60222	0.2252	M	0.66939	2.045	0.80722	D	1	P;B;B;B	0.35033	0.481;0.232;0.232;0.342	B;B;B;B	0.43445	0.42;0.067;0.067;0.202	T	0.66252	-0.5970	10	0.62326	D	0.03	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	5470;5470;5470;5399	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	G	5470;5399;5470;5399	ENSP00000356224:D5470G;ENSP00000396024:D5399G;ENSP00000265368:D5470G;ENSP00000390975:D5399G	ENSP00000265368:D5470G	D	-	2	0	SYNE1	152681072	1.000000	0.71417	0.903000	0.35520	0.820000	0.46376	6.972000	0.76110	2.201000	0.70794	0.533000	0.62120	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	T	NM_182961		152639379	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.998	C
TBC1D3P2	440452	genome.wustl.edu	37	17	60349273	60349273	+	IGR	SNP	C	C	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:60349273C>A	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CATTACCTTTCTGCTGTTTTT	0.562																																																	0																																										SO:0001628	intergenic_variant	440452																															17.37:g.60349273C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000602932.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	3.820	-0.037843	0.07497	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	0.753844	0.12048	U	0.504385	T	0.24084	0.0583	.	.	.	.	.	.	P	0.36909	0.573	B	0.35114	0.196	T	0.25222	-1.0138	6	0.72032	D	0.01	.	2.6652	0.05046	0.0:0.5:0.0:0.5	.	92	F8WD16	.	I	92	.	ENSP00000339793:R92I	R	-	2	0	AC053481.1	57704055	0.907000	0.30839	0.000000	0.03702	0.000000	0.00434	1.417000	0.34770	-0.000000	0.14550	0.000000	0.15137	AGA	TBC1D3P2	-	-		0.562	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	TBC1D3P2	HGNC	protein_coding	OTTHUMT00000467667.1	C			60349273	-1	no_errors	ENST00000339120	ensembl	human	known	70_37	rna	SNP	1.000	A
TENM3	55714	genome.wustl.edu	37	4	183714672	183714672	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr4:183714672G>T	ENST00000511685.1	+	26	6970	c.6847G>T	c.(6847-6849)Gcc>Tcc	p.A2283S	TENM3_ENST00000406950.2_Missense_Mutation_p.A2283S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2283					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACATCTTTTTGCCATGGAAAT	0.418																																																	0													60.0	58.0	59.0					4																	183714672		1899	4133	6032	SO:0001583	missense	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6847G>T	4.37:g.183714672G>T	ENSP00000424226:p.Ala2283Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A2283S	ENST00000511685.1	37	c.6847	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582272	0.65992	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.88201	-2.35;-2.35	4.89	4.89	0.63831	.	.	.	.	.	D	0.88202	0.6373	M	0.76328	2.33	0.80722	D	1	B	0.32781	0.384	B	0.23716	0.048	D	0.88324	0.2964	9	0.54805	T	0.06	.	18.2684	0.90060	0.0:0.0:1.0:0.0	.	2283	Q9P273	TEN3_HUMAN	S	2283	ENSP00000424226:A2283S;ENSP00000385276:A2283S	ENSP00000385276:A2283S	A	+	1	0	ODZ3	183951666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.628000	0.83189	2.534000	0.85438	0.563000	0.77884	GCC	TENM3	-	NULL		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183714672	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	missense	SNP	1.000	T
TICAM1	148022	genome.wustl.edu	37	19	4816382	4816382	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:4816382G>T	ENST00000248244.5	-	2	2237	c.2008C>A	c.(2008-2010)Ccc>Acc	p.P670T		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	670	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTCTGAGGGGGTGCGGGTGAG	0.662																																																	0													58.0	53.0	54.0					19																	4816382		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.2008C>A	19.37:g.4816382G>T	ENSP00000248244:p.Pro670Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.P670T	ENST00000248244.5	37	c.2008	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	G	6.905	0.536533	0.13188	.	.	ENSG00000127666	ENST00000248244	T	0.39229	1.09	3.45	-6.9	0.01655	.	1.511690	0.05007	U	0.470289	T	0.19167	0.0460	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.16012	-1.0417	10	0.17832	T	0.49	-2.534	0.406	0.00433	0.3444:0.2177:0.1246:0.3134	.	670	Q8IUC6	TCAM1_HUMAN	T	670	ENSP00000248244:P670T	ENSP00000248244:P670T	P	-	1	0	TICAM1	4767382	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.398000	0.01051	-1.929000	0.01057	-0.258000	0.10820	CCC	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.662	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4816382	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	0.000	T
TSPAN4	7106	genome.wustl.edu	37	11	862623	862623	+	Missense_Mutation	SNP	C	C	G	rs375365291		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:862623C>G	ENST00000397404.1	+	4	396	c.137C>G	c.(136-138)tCt>tGt	p.S46C	TSPAN4_ENST00000397406.1_Missense_Mutation_p.S46C|RP11-1391J7.1_ENST00000506172.2_RNA|TSPAN4_ENST00000409543.2_Missense_Mutation_p.S46C|TSPAN4_ENST00000397408.1_Missense_Mutation_p.S46C|TSPAN4_ENST00000397411.2_Missense_Mutation_p.S46C|TSPAN4_ENST00000346501.4_Missense_Mutation_p.S46C|TSPAN4_ENST00000525201.1_5'UTR|TSPAN4_ENST00000397397.2_Missense_Mutation_p.S46C|TSPAN4_ENST00000397396.1_5'UTR|TSPAN4_ENST00000409531.1_Missense_Mutation_p.S65C	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	46					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGCTGTCCTCTTCCTTCCCG	0.642																																																	0													73.0	67.0	69.0					11																	862623		2203	4299	6502	SO:0001583	missense	7106			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.137C>G	11.37:g.862623C>G	ENSP00000380553:p.Ser46Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAP6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S46C	ENST00000397404.1	37	c.137	CCDS7721.1	11	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690475	0.68271	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397408;ENST00000530404;ENST00000397406;ENST00000409543;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	3.67	3.67	0.42095	.	.	.	.	.	D	0.85639	0.5743	M	0.72576	2.205	0.80722	D	1	B	0.33171	0.4	P	0.47981	0.563	D	0.86139	0.1580	9	0.45353	T	0.12	.	15.5926	0.76550	0.0:1.0:0.0:0.0	.	46	O14817	TSN4_HUMAN	C	46;46;46;46;46;46;46;46;65;46	ENSP00000380552:S46C;ENSP00000380558:S46C;ENSP00000380555:S46C;ENSP00000437266:S46C;ENSP00000380554:S46C;ENSP00000386513:S46C;ENSP00000380553:S46C;ENSP00000324304:S46C;ENSP00000386899:S65C;ENSP00000436260:S46C	ENSP00000324304:S46C	S	+	2	0	TSPAN4	852623	0.260000	0.24053	0.996000	0.52242	0.974000	0.67602	4.492000	0.60334	1.903000	0.55091	0.561000	0.74099	TCT	TSPAN4	-	pfam_Tetraspanin/Peripherin		0.642	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN4	HGNC	protein_coding	OTTHUMT00000257102.2	C			862623	+1	no_errors	ENST00000397397	ensembl	human	known	70_37	missense	SNP	0.789	G
TP53I11	9537	genome.wustl.edu	37	11	44959840	44959840	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:44959840G>A	ENST00000533940.1	-	5	651	c.47C>T	c.(46-48)aCg>aTg	p.T16M	TP53I11_ENST00000308212.5_Missense_Mutation_p.T16M|TP53I11_ENST00000395648.3_Missense_Mutation_p.T16M|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000531928.2_Missense_Mutation_p.T16M|TP53I11_ENST00000525680.1_Missense_Mutation_p.T16M	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	16					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CACGAGGTCCGTCTGGCTGTG	0.677																																																	0													38.0	39.0	39.0					11																	44959840		2203	4299	6502	SO:0001583	missense	9537			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.47C>T	11.37:g.44959840G>A	ENSP00000436152:p.Thr16Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCS0	Missense_Mutation	SNP	NULL	p.T16M	ENST00000533940.1	37	c.47	CCDS7911.1	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958362	0.74016	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000533940;ENST00000525680;ENST00000528473;ENST00000528290;ENST00000525683;ENST00000525138;ENST00000533443;ENST00000530035;ENST00000527685;ENST00000533937	.	.	.	5.09	5.09	0.68999	.	0.896444	0.09873	N	0.744699	T	0.80829	0.4698	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77846	-0.2436	9	0.59425	D	0.04	.	18.4961	0.90865	0.0:0.0:1.0:0.0	.	16	O14683	P5I11_HUMAN	M	16;16;16;16;16;16;16;44;16;16;16;16	.	ENSP00000309532:T16M	T	-	2	0	TP53I11	44916416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.533000	0.98059	2.354000	0.79902	0.561000	0.74099	ACG	TP53I11	-	NULL		0.677	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TP53I11	HGNC	protein_coding	OTTHUMT00000389909.1	G	NM_006034		44959840	-1	no_errors	ENST00000354556	ensembl	human	known	70_37	missense	SNP	1.000	A
UBTF	7343	genome.wustl.edu	37	17	42292917	42292917	+	Intron	SNP	C	C	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr17:42292917C>A	ENST00000302904.4	-	5	967				UBTF_ENST00000436088.1_Intron|UBTF_ENST00000529383.1_Intron|UBTF_ENST00000393606.3_Intron|UBTF_ENST00000537550.1_5'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Intron|UBTF_ENST00000343638.5_Intron|UBTF_ENST00000533177.1_Intron|UBTF_ENST00000526094.1_Intron			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						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)		GACTCACCCTCATCCCTGATG	0.597																																																	0																																										SO:0001627	intron_variant	7343			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.474+104G>T	17.37:g.42292917C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6R8	RNA	SNP	-	NULL	ENST00000302904.4	37	NULL	CCDS11480.1	17																																																																																			UBTF	-	-		0.597	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	C	NM_014233		42292917	-1	no_errors	ENST00000537550	ensembl	human	known	70_37	rna	SNP	0.000	A
UBXN4	23190	genome.wustl.edu	37	2	136519420	136519420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr2:136519420C>T	ENST00000272638.9	+	6	852	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	181					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CACTTCCTCTCAGGAGCCTAG	0.368																																																	0													58.0	61.0	60.0					2																	136519420		1847	4085	5932	SO:0001587	stop_gained	23190			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.541C>T	2.37:g.136519420C>T	ENSP00000272638:p.Gln181*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9W4|Q4ZG56|Q8IYM5	Nonsense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.Q181*	ENST00000272638.9	37	c.541	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.707827	0.96821	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.02	5.02	0.67125	.	0.619068	0.16876	N	0.195939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	14.2258	0.65858	0.0:1.0:0.0:0.0	.	.	.	.	X	181;163	.	ENSP00000272638:Q181X	Q	+	1	0	UBXN4	136235890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.895000	0.56258	2.485000	0.83878	0.655000	0.94253	CAG	UBXN4	-	NULL		0.368	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	C	NM_014607		136519420	+1	no_errors	ENST00000272638	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UHRF1BP1	54887	genome.wustl.edu	37	6	34835144	34835144	+	Silent	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr6:34835144C>G	ENST00000192788.5	+	16	3726	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L	UHRF1BP1_ENST00000452449.2_Silent_p.L1185L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1185							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L1185L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGAAGACCTCATCTTTCACC	0.493																																																	1	Substitution - coding silent(1)	lung(1)											114.0	113.0	113.0					6																	34835144		1925	4121	6046	SO:0001819	synonymous_variant	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3555C>G	6.37:g.34835144C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXE0	Silent	SNP	NULL	p.L1185	ENST00000192788.5	37	c.3555	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL		0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	C	NM_017754		34835144	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	silent	SNP	0.521	G
UNC93B1	81622	genome.wustl.edu	37	11	67759294	67759294	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr11:67759294G>A	ENST00000227471.2	-	12	1593	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	506					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GACCGCGGCCGCCACCAGCGT	0.741																																																	0																																										SO:0001583	missense	81622			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1514C>T	11.37:g.67759294G>A	ENSP00000227471:p.Ala505Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A505V	ENST00000227471.2	37	c.1514		11	.	.	.	.	.	.	.	.	.	.	.	10.95	1.496767	0.26861	.	.	ENSG00000110057	ENST00000227471	T	0.79749	-1.3	4.98	-0.0425	0.13863	.	0.513281	0.19593	N	0.110568	T	0.57066	0.2028	.	.	.	0.27788	N	0.942937	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	9	0.13853	T	0.58	-21.2113	3.8158	0.08815	0.3148:0.3786:0.3065:0.0	.	506	Q9H1C4	UN93B_HUMAN	V	505	ENSP00000227471:A505V	ENSP00000227471:A505V	A	-	2	0	UNC93B1	67515870	0.006000	0.16342	0.914000	0.36105	0.889000	0.51656	0.211000	0.17474	0.486000	0.27676	0.491000	0.48974	GCG	UNC93B1	-	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		G	NM_030930		67759294	-1	no_errors	ENST00000227471	ensembl	human	known	70_37	missense	SNP	1.000	A
WBSCR16	81554	genome.wustl.edu	37	7	74466872	74466872	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr7:74466872G>A	ENST00000329959.4	-	10	1318	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	WBSCR16_ENST00000503250.2_Silent_p.N421N	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	421							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACCCTCGGATGTTCTTGCCCC	0.542																																																	0													13.0	14.0	14.0					7																	74466872		1617	3880	5497	SO:0001819	synonymous_variant	81554			AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.1263C>T	7.37:g.74466872G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.N421	ENST00000329959.4	37	c.1263	CCDS5577.1	7																																																																																			WBSCR16	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.542	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR16	HGNC	protein_coding	OTTHUMT00000252740.1	G	NM_030798		74466872	-1	no_errors	ENST00000329959	ensembl	human	known	70_37	silent	SNP	1.000	A
ZBTB33	10009	genome.wustl.edu	37	X	119388668	119388668	+	Silent	SNP	G	G	T			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chrX:119388668G>T	ENST00000326624.2	+	2	1626	c.1398G>T	c.(1396-1398)acG>acT	p.T466T	ZBTB33_ENST00000557385.1_Silent_p.T466T	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	466	Interaction with CTNND1. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAAAAACGTCTGGCAGCG	0.378																																																	0													72.0	71.0	72.0					X																	119388668		2203	4300	6503	SO:0001819	synonymous_variant	10009			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1398G>T	X.37:g.119388668G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T466	ENST00000326624.2	37	c.1398	CCDS14596.1	X																																																																																			ZBTB33	-	NULL		0.378	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	G	NM_006777		119388668	+1	no_errors	ENST00000326624	ensembl	human	known	70_37	silent	SNP	0.008	T
ZNF44	51710	genome.wustl.edu	37	19	12359151	12359151	+	Silent	SNP	G	G	A			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:12359151G>A	ENST00000426973.1	-	4	563	c.564C>T	c.(562-564)ttC>ttT	p.F188F				P15621	ZNF44_HUMAN	zinc finger protein 44	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTTGACAACTGAAGGCTTTCC	0.403																																																	0																																										SO:0001819	synonymous_variant	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000426973.1:c.564C>T	19.37:g.12359151G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	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.F188	ENST00000426973.1	37	c.564		19																																																																																			ZNF44	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF44-201	KNOWN	basic	protein_coding	ZNF44	HGNC	protein_coding		G	NM_016264		12359151	-1	no_errors	ENST00000426973	ensembl	human	known	70_37	silent	SNP	0.029	A
ZNF66	7617	genome.wustl.edu	37	19	20989966	20989966	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:20989966C>G	ENST00000344519.8	+	4	1583	c.1560C>G	c.(1558-1560)taC>taG	p.Y520*	AC010329.1_ENST00000582722.1_RNA|ZNF66_ENST00000425625.1_Intron			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACTTTAAGTACTCCTCTACCC	0.378																																																	0																																										SO:0001587	stop_gained	7617			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.1560C>G	19.37:g.20989966C>G	ENSP00000461425:p.Tyr520*	Somatic		WXS	Illumina HiSeq	Phase_IV	I3L4P5|Q15939	Nonsense_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.Y520*	ENST00000344519.8	37	c.1560		19																																																																																			ZNF66P	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66P	HGNC	protein_coding	OTTHUMT00000395955.2	C	NG_023377		20989966	+1	no_errors	ENST00000344519	ensembl	human	novel	70_37	nonsense	SNP	0.000	G
ZNF681	148213	genome.wustl.edu	37	19	23927271	23927271	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:23927271T>C	ENST00000402377.3	-	4	1222	c.1081A>G	c.(1081-1083)Act>Gct	p.T361A	ZNF681_ENST00000395385.3_Missense_Mutation_p.T292A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	361					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTCTCCAGTATGAATTATC	0.403																																																	0													60.0	64.0	63.0					19																	23927271		2203	4298	6501	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1081A>G	19.37:g.23927271T>C	ENSP00000384000:p.Thr361Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVF7	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.T361A	ENST00000402377.3	37	c.1081	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	12.43	1.936711	0.34189	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.26518	1.73;1.73	1.64	0.322	0.15888	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17238	0.0414	L	0.41906	1.305	0.20873	N	0.999831	P	0.35684	0.515	B	0.32465	0.146	T	0.15838	-1.0423	9	0.62326	D	0.03	.	4.5253	0.11978	0.2882:0.0:0.0:0.7118	.	361	Q96N22	ZN681_HUMAN	A	361;292	ENSP00000384000:T361A;ENSP00000378783:T292A	ENSP00000378783:T292A	T	-	1	0	ZNF681	23719111	1.000000	0.71417	0.017000	0.16124	0.038000	0.13279	0.989000	0.29629	-0.164000	0.10927	0.383000	0.25322	ACT	ZNF681	-	pfscan_Znf_C2H2		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	T	NM_138286		23927271	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF536	9745	genome.wustl.edu	37	19	31039805	31039805	+	Silent	SNP	C	C	T	rs147863190		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:31039805C>T	ENST00000355537.3	+	4	3426	c.3279C>T	c.(3277-3279)agC>agT	p.S1093S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1093					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S1093S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCAGAAGAGCGGTGCATGGA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18334	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	75.0	85.0	81.0		3279	-4.1	0.0	19	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1093/1301	31039805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3279C>T	19.37:g.31039805C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1093	ENST00000355537.3	37	c.3279	CCDS32984.1	19																																																																																			ZNF536	-	NULL		0.537	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	C	NM_014717		31039805	+1	no_errors	ENST00000355537	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF880	400713	genome.wustl.edu	37	19	52887528	52887528	+	Missense_Mutation	SNP	G	G	T	rs528402600		TCGA-EA-A5ZF-01A-11D-A28B-09	TCGA-EA-A5ZF-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac19348-9bcf-43e6-af2b-2eef1e6c3e79	e5eba636-4c19-4411-95f8-59b8218f57fb	g.chr19:52887528G>T	ENST00000422689.2	+	4	710	c.695G>T	c.(694-696)aGa>aTa	p.R232I		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	232					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CAACATCAAAGAATTCATACT	0.393																																																	0													37.0	35.0	36.0					19																	52887528		1568	3582	5150	SO:0001583	missense	400713			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.695G>T	19.37:g.52887528G>T	ENSP00000406318:p.Arg232Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNA6	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.R232I	ENST00000422689.2	37	c.695	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416414	0.25552	.	.	ENSG00000221923	ENST00000422689	T	0.24908	1.83	2.03	-0.626	0.11544	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26085	0.0636	M	0.79693	2.465	0.09310	N	1	P	0.51933	0.949	B	0.41619	0.361	T	0.18840	-1.0324	8	.	.	.	.	3.0788	0.06255	0.4254:0.2266:0.3481:0.0	.	232	Q6PDB4	ZN880_HUMAN	I	232	ENSP00000406318:R232I	.	R	+	2	0	ZNF880	57579340	0.000000	0.05858	0.002000	0.10522	0.122000	0.20287	-0.081000	0.11321	-0.226000	0.09899	0.551000	0.68910	AGA	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	G	NM_001145434		52887528	+1	no_errors	ENST00000422689	ensembl	human	known	70_37	missense	SNP	0.002	T
