#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AARS2	57505	genome.wustl.edu	37	6	44274674	44274674	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:44274674C>G	ENST00000244571.4	-	7	1137	c.1135G>C	c.(1135-1137)Gtg>Ctg	p.V379L	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTCTCCACCACTACAGGTACC	0.572																																						dbGAP											0													93.0	85.0	88.0					6																	44274674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1135G>C	6.37:g.44274674C>G	ENSP00000244571:p.Val379Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-synth_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-synth_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	p.V379L	ENST00000244571.4	37	c.1135	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128374	0.77549	.	.	ENSG00000124608	ENST00000244571	T	0.58652	0.32	4.54	4.54	0.55810	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.059595	0.64402	D	0.000003	T	0.58921	0.2156	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55289	-0.8164	10	0.09338	T	0.73	-20.4004	17.4903	0.87701	0.0:1.0:0.0:0.0	.	379	Q5JTZ9	SYAM_HUMAN	L	379	ENSP00000244571:V379L	ENSP00000244571:V379L	V	-	1	0	AARS2	44382652	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	5.623000	0.67757	2.353000	0.79882	0.561000	0.74099	GTG	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-synth_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000124608		0.572	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	40	0.00	0	C	NM_020745		44274674	44274674	-1	no_errors	ENST00000244571	ensembl	human	known	69_37n	missense	99	21.26	27	SNP	1.000	G
ADAMTS4	9507	genome.wustl.edu	37	1	161168097	161168097	+	Silent	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:161168097C>T	ENST00000367996.5	-	1	749	c.321G>A	c.(319-321)ctG>ctA	p.L107L	ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.L107L|NDUFS2_ENST00000367993.3_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	107					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	ACTGCACTGTCAGCCCCTCGA	0.657																																						dbGAP											0													36.0	35.0	35.0					1																	161168097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.321G>A	1.37:g.161168097C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L107	ENST00000367996.5	37	c.321	CCDS1223.1	1																																																																																			ADAMTS4	-	pfam_Peptidase_M12B_N	ENSG00000158859		0.657	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS4	HGNC	protein_coding	OTTHUMT00000083066.2	35	0.00	0	C	NM_005099		161168097	161168097	-1	no_errors	ENST00000367996	ensembl	human	known	69_37n	silent	47	24.19	15	SNP	1.000	T
ALAS2	212	genome.wustl.edu	37	X	55041341	55041342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:55041341_55041342insG	ENST00000330807.5	-	9	1412_1413	c.1275_1276insC	c.(1273-1278)cccatgfs	p.M426fs	ALAS2_ENST00000396198.3_Frame_Shift_Ins_p.M413fs|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Frame_Shift_Ins_p.M389fs	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	426					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGAGCACCATGGGGGGCAGAG	0.604																																						dbGAP											0			GRCh37	CM973195	ALAS2	M																																				-	-	-	SO:0001589	frameshift_variant	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1276dupC	X.37:g.55041347_55041347dupG	ENSP00000332369:p.Met426fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Frame_Shift_Ins	INS	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.M425fs	ENST00000330807.5	37	c.1276_1275	CCDS14366.1	X																																																																																			ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.604	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	23	0.00	0	-	NM_000032		55041341	55041342	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:0.967	G
AFF2	2334	genome.wustl.edu	37	X	148055076	148055076	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:148055076C>T	ENST00000370460.2	+	16	3822	c.3343C>T	c.(3343-3345)Cgc>Tgc	p.R1115C	AFF2_ENST00000342251.3_Missense_Mutation_p.R1082C|AFF2_ENST00000286437.5_Missense_Mutation_p.R756C|AFF2_ENST00000370457.5_Missense_Mutation_p.R1080C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1115					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCATGGAACGCGACCCTCT	0.478																																						dbGAP											0													187.0	141.0	157.0					X																	148055076		2203	4300	6503	-	-	-	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3343C>T	X.37:g.148055076C>T	ENSP00000359489:p.Arg1115Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R1115C	ENST00000370460.2	37	c.3343	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	c	18.47	3.631852	0.67015	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.88	4.11	0.48088	.	0.139180	0.47455	D	0.000240	T	0.77671	0.4165	M	0.72894	2.215	0.54753	D	0.999989	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.83275	0.985;0.996;0.994;0.989;0.989;0.994	T	0.79147	-0.1923	10	0.72032	D	0.01	.	14.7074	0.69200	0.2648:0.7352:0.0:0.0	.	756;1080;1080;1076;1105;1115	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	1115;1080;1082;756	ENSP00000359489:R1115C;ENSP00000359486:R1080C;ENSP00000345459:R1082C;ENSP00000286437:R756C	ENSP00000286437:R756C	R	+	1	0	AFF2	147862765	1.000000	0.71417	0.486000	0.27416	0.921000	0.55340	2.077000	0.41557	0.624000	0.30286	-0.171000	0.13296	CGC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	166	0.00	0	C	NM_002025		148055076	148055076	+1	no_errors	ENST00000370460	ensembl	human	known	69_37n	missense	68	50.36	69	SNP	1.000	T
AMOTL1	154810	genome.wustl.edu	37	11	94599220	94599220	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:94599220G>A	ENST00000433060.2	+	11	2516	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	AMOTL1_ENST00000317829.8_Missense_Mutation_p.R742H|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	792					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CGTCCTGCCCGCTCCGTTCCA	0.537																																						dbGAP											0													53.0	58.0	56.0					11																	94599220		2012	4178	6190	-	-	-	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2375G>A	11.37:g.94599220G>A	ENSP00000387739:p.Arg792His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R792H	ENST00000433060.2	37	c.2375	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781065	0.90282	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.20200	2.1;2.09	5.23	5.23	0.72850	Angiomotin, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.44329	0.1288	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	T	0.33904	-0.9850	10	0.66056	D	0.02	-19.9999	18.8263	0.92121	0.0:0.0:1.0:0.0	.	742;792	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	H	742;792	ENSP00000320968:R742H;ENSP00000387739:R792H	ENSP00000320968:R742H	R	+	2	0	AMOTL1	94238868	0.998000	0.40836	1.000000	0.80357	0.900000	0.52787	3.707000	0.54838	2.453000	0.82957	0.561000	0.74099	CGC	AMOTL1	-	pfam_Angiomotin_C	ENSG00000166025		0.537	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	69	0.00	0	G	NM_130847		94599220	94599220	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21225768	21225768	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:21225768C>T	ENST00000233242.1	-	29	12653	c.12526G>A	c.(12526-12528)Gta>Ata	p.V4176I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4176					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAACTCGTACCAAGCCATCA	0.468																																						dbGAP											0													76.0	73.0	74.0					2																	21225768		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12526G>A	2.37:g.21225768C>T	ENSP00000233242:p.Val4176Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V4176I	ENST00000233242.1	37	c.12526	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	3.376	-0.127305	0.06753	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00700	5.82	5.99	-8.82	0.00810	.	0.727837	0.12476	N	0.465573	T	0.00271	0.0008	N	0.02247	-0.625	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	10	0.07813	T	0.8	.	3.4853	0.07617	0.215:0.2091:0.0719:0.5041	.	4176	P04114	APOB_HUMAN	I	4176	ENSP00000233242:V4176I	ENSP00000233242:V4176I	V	-	1	0	APOB	21079273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.505000	0.06367	-1.063000	0.03177	-0.899000	0.02877	GTA	APOB	-	NULL	ENSG00000084674		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	143	0.00	0	C			21225768	21225768	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	81	20.59	21	SNP	0.000	T
ARHGAP6	395	genome.wustl.edu	37	X	11196301	11196301	+	Silent	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:11196301G>A	ENST00000337414.4	-	8	2420	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	ARHGAP6_ENST00000380718.1_Silent_p.C516C|ARHGAP6_ENST00000303025.6_Silent_p.C313C|ARHGAP6_ENST00000534860.1_Silent_p.C341C|ARHGAP6_ENST00000413512.3_Silent_p.C325C|ARHGAP6_ENST00000380732.3_Silent_p.C548C|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Silent_p.C313C	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	516	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGAGGGTGTCGCAGTTGCAGG	0.532																																						dbGAP											0													143.0	98.0	114.0					X																	11196301		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1548C>T	X.37:g.11196301G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.C516	ENST00000337414.4	37	c.1548	CCDS14140.1	X																																																																																			ARHGAP6	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047648		0.532	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	80	0.00	0	G	NM_013427		11196301	11196301	-1	no_errors	ENST00000337414	ensembl	human	known	69_37n	silent	27	50.91	28	SNP	0.965	A
BEND4	389206	genome.wustl.edu	37	4	42145757	42145757	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr4:42145757C>T	ENST00000502486.1	-	3	1321	c.742G>A	c.(742-744)Gtt>Att	p.V248I	BEND4_ENST00000504360.1_Missense_Mutation_p.V244I	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	248										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCAGTGAAAACCCTCAAAAAG	0.478																																						dbGAP											0													115.0	119.0	118.0					4																	42145757		1912	4123	6035	-	-	-	SO:0001583	missense	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.742G>A	4.37:g.42145757C>T	ENSP00000421169:p.Val248Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	pfam_BEN_domain	p.V248I	ENST00000502486.1	37	c.742	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310268	0.40895	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	5.52	0.82312	.	0.061331	0.64402	D	0.000003	T	0.36331	0.0963	N	0.08118	0	0.51482	D	0.99992	P;B;B	0.36110	0.537;0.188;0.285	B;B;B	0.35470	0.203;0.1;0.203	T	0.24261	-1.0165	9	0.31617	T	0.26	-16.8096	19.4558	0.94889	0.0:1.0:0.0:0.0	.	170;248;248	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	I	119;248;244	.	ENSP00000412495:V119I	V	-	1	0	BEND4	41840514	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	4.545000	0.60698	2.611000	0.88343	0.655000	0.94253	GTT	BEND4	-	NULL	ENSG00000188848		0.478	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	39	0.00	0	C	NM_207406		42145757	42145757	-1	no_errors	ENST00000502486	ensembl	human	known	69_37n	missense	48	20.97	13	SNP	1.000	T
BHLHE41	79365	genome.wustl.edu	37	12	26276608	26276608	+	Missense_Mutation	SNP	C	C	T	rs373335525		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr12:26276608C>T	ENST00000242728.4	-	4	648	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	101					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						TCGGTTAAGGCGGTTAAAGCT	0.478											OREG0021711	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													142.0	133.0	136.0					12																	26276608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.301G>A	12.37:g.26276608C>T	ENSP00000242728:p.Ala101Thr	Somatic	785	WXS	Illumina GAIIx	Phase_IV	A2I2N8	Missense_Mutation	SNP	pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd	p.A101T	ENST00000242728.4	37	c.301	CCDS8706.1	12	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792395	0.31685	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	T	0.57752	0.38	4.16	4.16	0.48862	Helix-loop-helix DNA-binding (3);	0.302778	0.23365	U	0.048962	T	0.33089	0.0851	L	0.28649	0.875	0.80722	D	1	P	0.42692	0.787	B	0.32090	0.14	T	0.12426	-1.0548	10	0.26408	T	0.33	-4.2794	10.9205	0.47161	0.1876:0.8124:0.0:0.0	.	101	Q9C0J9	BHE41_HUMAN	T	101	ENSP00000242728:A101T	ENSP00000242728:A101T	A	-	1	0	BHLHE41	26167875	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.898000	0.39809	2.317000	0.78254	0.655000	0.94253	GCC	BHLHE41	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd	ENSG00000123095		0.478	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE41	HGNC	protein_coding	OTTHUMT00000402714.1	79	0.00	0	C	NM_030762		26276608	26276608	-1	no_errors	ENST00000242728	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	1.000	T
C1orf168	199920	genome.wustl.edu	37	1	57258333	57258333	+	Silent	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:57258333A>G	ENST00000343433.6	-	2	233	c.153T>C	c.(151-153)aaT>aaC	p.N51N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	51										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGGGTTTCCCATTGGCCAAAA	0.478																																						dbGAP											0													158.0	150.0	152.0					1																	57258333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.153T>C	1.37:g.57258333A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HM3|Q6ZUY6	Silent	SNP	superfamily_SH3_domain	p.N51	ENST00000343433.6	37	c.153	CCDS30729.1	1																																																																																			C1orf168	-	NULL	ENSG00000187889		0.478	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	562	0.00	0	A	NM_001004303		57258333	57258333	-1	no_errors	ENST00000343433	ensembl	human	known	69_37n	silent	571	13.81	92	SNP	0.302	G
ERICH3	127254	genome.wustl.edu	37	1	75038229	75038229	+	Silent	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:75038229A>G	ENST00000326665.5	-	14	3383	c.3165T>C	c.(3163-3165)gaT>gaC	p.D1055D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1055	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTTGCTAAATCTAATTCCT	0.448																																						dbGAP											0													156.0	166.0	163.0					1																	75038229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000326665.5:c.3165T>C	1.37:g.75038229A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.D1055	ENST00000326665.5	37	c.3165	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	672	0.00	0	A			75038229	75038229	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	silent	534	11.59	70	SNP	0.000	G
CBLB	868	genome.wustl.edu	37	3	105421144	105421144	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr3:105421144C>T	ENST00000264122.4	-	12	2074	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	CBLB_ENST00000403724.1_Missense_Mutation_p.D585N|CBLB_ENST00000405772.1_Missense_Mutation_p.D585N|CBLB_ENST00000394027.3_Missense_Mutation_p.D607N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	585	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATTGGCGGGTCTCTGGAAGGC	0.547			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													93.0	83.0	86.0					3																	105421144		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1753G>A	3.37:g.105421144C>T	ENSP00000264122:p.Asp585Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.D585N	ENST00000264122.4	37	c.1753	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586455	0.66105	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.85013	-1.9;-1.92;-1.92;-1.93	5.67	5.67	0.87782	.	0.283997	0.38111	N	0.001816	T	0.77665	0.4164	L	0.31752	0.955	0.80722	D	1	P;B;B	0.46784	0.884;0.001;0.001	B;B;B	0.37888	0.26;0.002;0.002	T	0.77453	-0.2582	9	.	.	.	-12.2318	17.9312	0.88998	0.0:1.0:0.0:0.0	.	607;585;585	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	585;607;585;585	ENSP00000264122:D585N;ENSP00000377595:D607N;ENSP00000384816:D585N;ENSP00000384938:D585N	.	D	-	1	0	CBLB	106903834	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.037000	0.70956	2.663000	0.90544	0.536000	0.68110	GAC	CBLB	-	NULL	ENSG00000114423		0.547	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	77	0.00	0	C	NM_170662		105421144	105421144	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	57	53.66	66	SNP	1.000	T
CCDC102B	79839	genome.wustl.edu	37	18	66505946	66505946	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr18:66505946C>A	ENST00000360242.5	+	3	727	c.610C>A	c.(610-612)Caa>Aaa	p.Q204K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Missense_Mutation_p.Q204K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.Q204K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.Q204K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	204										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCTTCAGGAACAAGGTGTGGT	0.333																																						dbGAP											0													71.0	72.0	72.0					18																	66505946		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.610C>A	18.37:g.66505946C>A	ENSP00000353377:p.Gln204Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	NULL	p.Q204K	ENST00000360242.5	37	c.610	CCDS11996.2	18	.	.	.	.	.	.	.	.	.	.	C	2.931	-0.221111	0.06061	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.16743	2.81;2.32;2.81	5.33	-0.395	0.12431	.	1.182270	0.06062	N	0.658480	T	0.07369	0.0186	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.32295	-0.9912	10	0.02654	T	1	1.0064	3.4001	0.07320	0.1618:0.2436:0.4723:0.1223	.	204;204	Q68D86-3;Q68D86	.;C102B_HUMAN	K	204	ENSP00000316237:Q204K;ENSP00000351479:Q204K;ENSP00000353377:Q204K	ENSP00000316237:Q204K	Q	+	1	0	CCDC102B	64656926	0.040000	0.19996	0.150000	0.22450	0.296000	0.27459	0.306000	0.19279	-0.012000	0.14223	-0.203000	0.12734	CAA	CCDC102B	-	NULL	ENSG00000150636		0.333	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102B	HGNC	protein_coding	OTTHUMT00000256225.2	131	0.00	0	C	NM_024781		66505946	66505946	+1	no_errors	ENST00000319445	ensembl	human	known	69_37n	missense	79	20.79	21	SNP	0.049	A
CCDC67	159989	genome.wustl.edu	37	11	93104384	93104384	+	Missense_Mutation	SNP	A	A	C	rs560842363		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:93104384A>C	ENST00000298050.3	+	7	827	c.727A>C	c.(727-729)Aaa>Caa	p.K243Q		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	243					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAGCAGGAATAAATTACAAGA	0.333													A|||	1	0.000199681	0.0	0.0	5008	,	,		17545	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													55.0	53.0	53.0					11																	93104384		1832	4087	5919	-	-	-	SO:0001583	missense	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.727A>C	11.37:g.93104384A>C	ENSP00000298050:p.Lys243Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NEF1|Q96LL7	Missense_Mutation	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.K243Q	ENST00000298050.3	37	c.727	CCDS44707.1	11	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419006	0.62622	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	T;T;T	0.47528	2.16;2.16;0.84	5.61	5.61	0.85477	.	0.241583	0.36338	N	0.002642	T	0.57446	0.2054	L	0.54323	1.7	0.25493	N	0.987627	D;D;D	0.69078	0.997;0.997;0.997	D;P;D	0.65010	0.931;0.899;0.931	T	0.51795	-0.8660	10	0.22706	T	0.39	.	10.2573	0.43405	0.8525:0.0:0.0:0.1475	.	243;243;235	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	Q	243	ENSP00000432111:K243Q;ENSP00000298050:K243Q;ENSP00000434635:K243Q	ENSP00000298050:K243Q	K	+	1	0	CCDC67	92744032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.128000	0.57951	2.141000	0.66446	0.533000	0.62120	AAA	CCDC67	-	NULL	ENSG00000165325		0.333	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		186	0.00	0	A	NM_181645		93104384	93104384	+1	no_errors	ENST00000298050	ensembl	human	known	69_37n	missense	171	11.40	22	SNP	1.000	C
CD37	951	genome.wustl.edu	37	19	49838991	49838991	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr19:49838991C>A	ENST00000323906.4	+	2	231	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CD37_ENST00000426897.2_5'UTR|CD37_ENST00000535669.2_Missense_Mutation_p.F30L|CD37_ENST00000598095.1_5'UTR|CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000596426.1_3'UTR	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	30					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GCCTGATCTTCTGCTTCGGCA	0.657																																						dbGAP											0													225.0	225.0	225.0					19																	49838991		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.90C>A	19.37:g.49838991C>A	ENSP00000325708:p.Phe30Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVC1|Q3KPF9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.F30L	ENST00000323906.4	37	c.90	CCDS12760.1	19	.	.	.	.	.	.	.	.	.	.	C	9.852	1.193905	0.22037	.	.	ENSG00000104894	ENST00000391859;ENST00000323906;ENST00000535669	T;T;T	0.74947	-0.89;-0.89;-0.89	4.71	3.67	0.42095	.	0.085303	0.50627	D	0.000120	T	0.53126	0.1777	N	0.13235	0.315	0.80722	D	1	P;P	0.36616	0.561;0.561	B;B	0.39660	0.306;0.306	T	0.54043	-0.8352	10	0.02654	T	1	.	9.2642	0.37630	0.0:0.8978:0.0:0.1022	.	30;30	B7ZAN3;P11049	.;CD37_HUMAN	L	30	ENSP00000375732:F30L;ENSP00000325708:F30L;ENSP00000441037:F30L	ENSP00000325708:F30L	F	+	3	2	CD37	54530803	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	1.691000	0.37721	1.119000	0.41883	0.561000	0.74099	TTC	CD37	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000104894		0.657	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD37	HGNC	protein_coding	OTTHUMT00000465532.1	254	0.00	0	C			49838991	49838991	+1	no_errors	ENST00000323906	ensembl	human	known	69_37n	missense	650	14.02	106	SNP	1.000	A
CDH12	1010	genome.wustl.edu	37	5	21751992	21751992	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr5:21751992C>T	ENST00000382254.1	-	15	3325	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	CDH12_ENST00000504376.2_Missense_Mutation_p.V747M|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.V707M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	747					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCTGCCACGGACCCACTC	0.512										HNSCC(59;0.17)																												dbGAP											0													170.0	151.0	158.0					5																	21751992		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2239G>A	5.37:g.21751992C>T	ENSP00000371689:p.Val747Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V747M	ENST00000382254.1	37	c.2239	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781247	0.31502	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.78364	-1.17;-1.17;-1.17	4.94	0.576	0.17380	Cadherin, cytoplasmic domain (1);	0.484875	0.22304	N	0.061823	D	0.82614	0.5075	M	0.88450	2.955	0.38068	D	0.936284	P;P	0.46457	0.878;0.786	P;B	0.52066	0.689;0.347	T	0.80612	-0.1305	10	0.62326	D	0.03	.	5.4961	0.16804	0.0:0.585:0.1397:0.2753	.	707;747	B7Z2U6;P55289	.;CAD12_HUMAN	M	747;747;707	ENSP00000423577:V747M;ENSP00000371689:V747M;ENSP00000428786:V707M	ENSP00000371689:V747M	V	-	1	0	CDH12	21787749	0.427000	0.25514	0.000000	0.03702	0.117000	0.20001	2.235000	0.43044	0.023000	0.15187	0.467000	0.42956	GTG	CDH12	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000154162		0.512	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	266	0.00	0	C	NM_004061		21751992	21751992	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	missense	205	36.42	118	SNP	0.748	T
CFH	3075	genome.wustl.edu	37	1	196706080	196706080	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:196706080A>T	ENST00000367429.4	+	16	2780	c.2540A>T	c.(2539-2541)gAa>gTa	p.E847V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	847	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTAATTCAGGAAGGAGAAGAA	0.363																																						dbGAP											0													85.0	82.0	83.0					1																	196706080		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2540A>T	1.37:g.196706080A>T	ENSP00000356399:p.Glu847Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E847V	ENST00000367429.4	37	c.2540	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.011566	0.35511	.	.	ENSG00000000971	ENST00000367429	T	0.65916	-0.18	5.91	-7.81	0.01210	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65873	0.2733	L	0.44542	1.39	0.18873	N	0.999984	P	0.48589	0.912	P	0.54140	0.743	T	0.69161	-0.5218	9	0.72032	D	0.01	.	20.999	0.99943	0.174:0.0:0.826:0.0	.	847	P08603	CFAH_HUMAN	V	847	ENSP00000356399:E847V	ENSP00000356399:E847V	E	+	2	0	CFH	194972703	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.127000	0.10547	-1.479000	0.01867	-0.388000	0.06559	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.363	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	122	0.00	0	A	NM_000186		196706080	196706080	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	121	14.79	21	SNP	0.000	T
COL4A3	1285	genome.wustl.edu	37	2	228121089	228121089	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:228121089T>A	ENST00000396578.3	+	17	1126	c.964T>A	c.(964-966)Tta>Ata	p.L322I	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	322	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTTCCCTGGGTTAATGGGTGA	0.463																																						dbGAP											0													132.0	119.0	123.0					2																	228121089		1853	4103	5956	-	-	-	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.964T>A	2.37:g.228121089T>A	ENSP00000379823:p.Leu322Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L322I	ENST00000396578.3	37	c.964	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	T	12.25	1.880511	0.33255	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93604	-3.25	5.87	3.49	0.39957	.	0.149943	0.28442	N	0.015323	D	0.91352	0.7272	L	0.50333	1.59	0.37499	D	0.91667	P;P;P;D	0.52996	0.865;0.946;0.946;0.957	B;B;B;P	0.51453	0.301;0.41;0.41;0.67	D	0.88014	0.2764	10	0.29301	T	0.29	.	5.5617	0.17148	0.1516:0.0806:0.0:0.7678	.	322;322;322;322	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	I	322	ENSP00000379823:L322I	ENSP00000323334:L322I	L	+	1	2	COL4A3	227829333	0.377000	0.25106	0.402000	0.26371	0.069000	0.16628	0.481000	0.22260	0.562000	0.29204	-0.266000	0.10368	TTA	COL4A3	-	pfam_Collagen	ENSG00000169031		0.463	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	113	0.00	0	T	NM_000091		228121089	228121089	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	missense	77	25.96	27	SNP	0.886	A
CTH	1491	genome.wustl.edu	37	1	70895527	70895527	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:70895527C>G	ENST00000370938.3	+	6	783	c.639C>G	c.(637-639)taC>taG	p.Y213*	CTH_ENST00000411986.2_Nonsense_Mutation_p.Y181*|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000346806.2_Nonsense_Mutation_p.Y169*	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAACAAAATACATGAATGGTA	0.333																																						dbGAP											0													108.0	100.0	103.0					1																	70895527		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.639C>G	1.37:g.70895527C>G	ENSP00000359976:p.Tyr213*	Somatic		WXS	Illumina GAIIx	Phase_IV	O95791|Q9NX42	Nonsense_Mutation	SNP	pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz	p.Y213*	ENST00000370938.3	37	c.639	CCDS650.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787524	0.90367	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	.	.	.	5.15	1.91	0.25777	.	0.130188	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1988	12.0743	0.53634	0.0:0.776:0.0:0.224	.	.	.	.	X	181;213;169	.	ENSP00000311554:Y169X	Y	+	3	2	CTH	70668115	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	1.636000	0.37144	0.203000	0.20529	0.650000	0.86243	TAC	CTH	-	pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cys/Met-Metab_PyrdxlP-dep_enz	ENSG00000116761		0.333	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTH	HGNC	protein_coding	OTTHUMT00000025918.1	63	0.00	0	C	NM_001902		70895527	70895527	+1	no_errors	ENST00000370938	ensembl	human	known	69_37n	nonsense	89	13.59	14	SNP	1.000	G
DACH2	117154	genome.wustl.edu	37	X	85769372	85769372	+	Silent	SNP	G	G	A	rs149578312		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:85769372G>A	ENST00000373125.4	+	3	618	c.618G>A	c.(616-618)tcG>tcA	p.S206S	DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Silent_p.S39S|DACH2_ENST00000373131.1_Silent_p.S193S	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	206					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCCTCTTATCGCCAGGACTTA	0.478																																						dbGAP											0													44.0	37.0	40.0					X																	85769372		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.618G>A	X.37:g.85769372G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S206	ENST00000373125.4	37	c.618	CCDS14455.1	X																																																																																			DACH2	-	NULL	ENSG00000126733		0.478	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	83	0.00	0	G	NM_053281		85769372	85769372	+1	no_errors	ENST00000373125	ensembl	human	known	69_37n	silent	46	23.33	14	SNP	0.991	A
DNAJC13	23317	genome.wustl.edu	37	3	132218599	132218599	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr3:132218599C>T	ENST00000260818.6	+	38	4611	c.4363C>T	c.(4363-4365)Cgc>Tgc	p.R1455C		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1455					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGCATTTAGTCGCTGTGTGGC	0.418																																						dbGAP											0													240.0	249.0	246.0					3																	132218599		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4363C>T	3.37:g.132218599C>T	ENSP00000260818:p.Arg1455Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.R1455C	ENST00000260818.6	37	c.4363	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.990049	0.93106	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.25250	1.81	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66709	-0.5855	10	0.87932	D	0	.	19.0644	0.93104	0.0:1.0:0.0:0.0	.	1455	O75165	DJC13_HUMAN	C	1455;102	ENSP00000260818:R1455C	ENSP00000260818:R1455C	R	+	1	0	DNAJC13	133701289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.480000	0.66820	2.570000	0.86706	0.555000	0.69702	CGC	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.418	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	298	0.00	0	C	NM_015268		132218599	132218599	+1	no_errors	ENST00000260818	ensembl	human	known	69_37n	missense	343	19.86	85	SNP	1.000	T
DPP3	10072	genome.wustl.edu	37	11	66276589	66276589	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:66276589C>A	ENST00000360510.2	+	18	2146	c.2081C>A	c.(2080-2082)gCt>gAt	p.A694D	DPP3_ENST00000532677.1_Missense_Mutation_p.A713D|DPP3_ENST00000541961.1_Missense_Mutation_p.A694D|DPP3_ENST00000531863.1_Missense_Mutation_p.A714D|BBS1_ENST00000318312.7_5'Flank|BBS1_ENST00000455748.2_5'Flank|BBS1_ENST00000393994.2_5'Flank|CTD-3074O7.11_ENST00000419755.3_5'UTR|BBS1_ENST00000537537.1_5'Flank|DPP3_ENST00000453114.1_Missense_Mutation_p.A694D|DPP3_ENST00000530165.1_Missense_Mutation_p.A664D			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	694					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GCGTCAGCTGCTGGCCTCATC	0.557																																						dbGAP											0													79.0	76.0	77.0					11																	66276589		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.2081C>A	11.37:g.66276589C>A	ENSP00000353701:p.Ala694Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	pirsf_Pept_49_dipeptidyl-pept-3_euk	p.A694D	ENST00000360510.2	37	c.2081	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639902	0.47153	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807;ENST00000347422	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.3	5.3	0.74995	.	0.120509	0.56097	D	0.000038	T	0.25717	0.0626	L	0.53249	1.67	0.46849	D	0.999222	B;B	0.30482	0.281;0.052	B;B	0.32724	0.135;0.151	T	0.03566	-1.1024	10	0.13108	T	0.6	.	14.5126	0.67797	0.0:1.0:0.0:0.0	.	713;694	G3V1D3;Q9NY33	.;DPP3_HUMAN	D	714;713;694;694;694;664;592;274	ENSP00000432782:A714D;ENSP00000435284:A713D;ENSP00000353701:A694D;ENSP00000389943:A694D;ENSP00000440502:A694D;ENSP00000436941:A664D	ENSP00000309957:A274D	A	+	2	0	DPP3	66033165	1.000000	0.71417	0.962000	0.40283	0.883000	0.51084	4.810000	0.62598	2.498000	0.84270	0.555000	0.69702	GCT	DPP3	-	pirsf_Pept_49_dipeptidyl-pept-3_euk	ENSG00000254986		0.557	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	HGNC	protein_coding	OTTHUMT00000393424.2	63	0.00	0	C			66276589	66276589	+1	no_errors	ENST00000360510	ensembl	human	known	69_37n	missense	66	21.43	18	SNP	0.996	A
DYRK3	8444	genome.wustl.edu	37	1	206821149	206821149	+	Silent	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:206821149A>G	ENST00000367109.2	+	3	774	c.606A>G	c.(604-606)cgA>cgG	p.R202R	DYRK3_ENST00000367106.1_Silent_p.R182R|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Silent_p.R182R	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	202					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGTACCTCGAGACCATCTAG	0.458																																					Melanoma(164;427 2622 26826 51707)	dbGAP											0													124.0	115.0	118.0					1																	206821149		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.606A>G	1.37:g.206821149A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Silent	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.R202	ENST00000367109.2	37	c.606	CCDS30999.1	1																																																																																			DYRK3	-	superfamily_Kinase-like_dom	ENSG00000143479		0.458	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK3	HGNC	protein_coding	OTTHUMT00000088458.1	228	0.00	0	A	NM_003582		206821149	206821149	+1	no_errors	ENST00000367109	ensembl	human	known	69_37n	silent	480	10.43	56	SNP	1.000	G
EAF2	55840	genome.wustl.edu	37	3	121573546	121573546	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr3:121573546C>G	ENST00000273668.2	+	3	285	c.214C>G	c.(214-216)Cca>Gca	p.P72A	EAF2_ENST00000451944.2_Missense_Mutation_p.P72A	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	72	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTCAACTCCACCAGTAACTGT	0.328																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	dbGAP											0													34.0	36.0	36.0					3																	121573546		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.214C>G	3.37:g.121573546C>G	ENSP00000273668:p.Pro72Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZ82	Missense_Mutation	SNP	pfam_Tscrpt_elong_fac_Eaf_N	p.P72A	ENST00000273668.2	37	c.214	CCDS3006.1	3	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983901	0.53827	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.17	5.17	0.71159	Transcription elognation factor  Eaf, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	L	0.57536	1.79	0.80722	D	1	P	0.40282	0.711	P	0.46208	0.507	T	0.67082	-0.5760	9	0.45353	T	0.12	-11.3884	16.2237	0.82280	0.0:1.0:0.0:0.0	.	72	Q96CJ1	EAF2_HUMAN	A	72	.	ENSP00000273668:P72A	P	+	1	0	EAF2	123056236	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	5.730000	0.68546	2.671000	0.90904	0.655000	0.94253	CCA	EAF2	-	pfam_Tscrpt_elong_fac_Eaf_N	ENSG00000145088		0.328	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF2	HGNC	protein_coding	OTTHUMT00000355247.1	219	0.00	0	C	NM_018456		121573546	121573546	+1	no_errors	ENST00000273668	ensembl	human	known	69_37n	missense	259	15.36	47	SNP	1.000	G
FAM124A	220108	genome.wustl.edu	37	13	51826286	51826286	+	Missense_Mutation	SNP	C	C	A	rs371062746		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr13:51826286C>A	ENST00000322475.8	+	3	918	c.783C>A	c.(781-783)agC>agA	p.S261R	FAM124A_ENST00000280057.6_Missense_Mutation_p.S297R	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	261										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCCCCATCAGCGAGGGGCGCT	0.627																																						dbGAP											0													29.0	31.0	30.0					13																	51826286		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.783C>A	13.37:g.51826286C>A	ENSP00000324625:p.Ser261Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	NULL	p.S297R	ENST00000322475.8	37	c.891	CCDS55900.1	13	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200106	0.38905	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.59906	0.23;0.23	5.79	-9.66	0.00534	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.67700	2.07	0.50171	D	0.999856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.82589	-0.0382	10	0.87932	D	0	7.6181	17.9068	0.88920	0.0:0.5896:0.0:0.4104	.	261;297;261	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	R	261;297	ENSP00000324625:S261R;ENSP00000280057:S297R	ENSP00000280057:S297R	S	+	3	2	FAM124A	50724287	0.772000	0.28567	0.682000	0.30024	0.009000	0.06853	-0.159000	0.10056	-1.956000	0.01022	-0.793000	0.03317	AGC	FAM124A	-	NULL	ENSG00000150510		0.627	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	19	0.00	0	C	NM_145019		51826286	51826286	+1	no_errors	ENST00000280057	ensembl	human	known	69_37n	missense	11	56.00	14	SNP	0.833	A
FAT3	120114	genome.wustl.edu	37	11	92534068	92534068	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:92534068G>C	ENST00000298047.6	+	9	7906	c.7889G>C	c.(7888-7890)gGa>gCa	p.G2630A	FAT3_ENST00000409404.2_Missense_Mutation_p.G2630A|FAT3_ENST00000525166.1_Missense_Mutation_p.G2480A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2630	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCGATGATGGAGCAAATTCA	0.502										TCGA Ovarian(4;0.039)																												dbGAP											0													41.0	40.0	40.0					11																	92534068		1933	4140	6073	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7889G>C	11.37:g.92534068G>C	ENSP00000298047:p.Gly2630Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.G2630A	ENST00000298047.6	37	c.7889		11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987378	0.74589	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.66815	-0.23;-0.23;-0.23	6.16	6.16	0.99307	.	.	.	.	.	D	0.83303	0.5225	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.83429	0.0037	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	2630	Q8TDW7-3	.	A	2630;2630;2480	ENSP00000298047:G2630A;ENSP00000387040:G2630A;ENSP00000432586:G2480A	ENSP00000298047:G2630A	G	+	2	0	FAT3	92173716	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	7.905000	0.87416	2.937000	0.99478	0.650000	0.86243	GGA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.502	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		60	0.00	0	G	NM_001008781		92534068	92534068	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	1.000	C
FSCN3	29999	genome.wustl.edu	37	7	127238597	127238597	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr7:127238597T>C	ENST00000265825.5	+	4	1288	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L	FSCN3_ENST00000420086.2_Missense_Mutation_p.F223L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	357						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAGGGGGCGCTTCCTGGGCAT	0.577																																						dbGAP											0													116.0	109.0	112.0					7																	127238597		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1069T>C	7.37:g.127238597T>C	ENSP00000265825:p.Phe357Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.F357L	ENST00000265825.5	37	c.1069	CCDS34746.1	7	.	.	.	.	.	.	.	.	.	.	T	16.99	3.275245	0.59649	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.54071	1.28;0.59	5.94	5.94	0.96194	Fascin domain (1);Actin cross-linking (1);	0.196193	0.36555	N	0.002537	T	0.53029	0.1771	L	0.54323	1.7	0.38788	D	0.954923	P;B	0.35684	0.515;0.201	B;B	0.40636	0.335;0.197	T	0.58335	-0.7654	10	0.46703	T	0.11	-10.5696	12.7897	0.57526	0.0:0.0:0.0:1.0	.	223;357	B4DU68;Q9NQT6	.;FSCN3_HUMAN	L	357;223	ENSP00000265825:F357L;ENSP00000412243:F223L	ENSP00000265825:F357L	F	+	1	0	FSCN3	127025833	0.942000	0.31987	0.944000	0.38274	0.293000	0.27360	4.051000	0.57412	2.279000	0.76181	0.459000	0.35465	TTC	FSCN3	-	pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000106328		0.577	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	HGNC	protein_coding	OTTHUMT00000059256.2	103	0.00	0	T	NM_020369		127238597	127238597	+1	no_errors	ENST00000265825	ensembl	human	known	69_37n	missense	106	47.26	95	SNP	0.979	C
GABRB1	2560	genome.wustl.edu	37	4	47427898	47427898	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr4:47427898C>T	ENST00000295454.3	+	9	1580	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R360C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	430					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGGCGCATCCGCAGGCGTGC	0.607																																						dbGAP											0													64.0	66.0	66.0					4																	47427898		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1288C>T	4.37:g.47427898C>T	ENSP00000295454:p.Arg430Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R430C	ENST00000295454.3	37	c.1288	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172320	0.78452	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.87256	-2.23;-2.23	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.173280	0.39020	N	0.001485	D	0.93706	0.7989	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.65773	0.921;0.938	D	0.94225	0.7471	10	0.72032	D	0.01	-13.3473	14.1912	0.65639	0.1493:0.8506:0.0:0.0	.	360;430	F5GXV5;P18505	.;GBRB1_HUMAN	C	430;360	ENSP00000295454:R430C;ENSP00000440330:R360C	ENSP00000295454:R430C	R	+	1	0	GABRB1	47122655	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.750000	0.47500	2.803000	0.96430	0.650000	0.86243	CGC	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.607	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	130	0.00	0	C			47427898	47427898	+1	no_errors	ENST00000295454	ensembl	human	known	69_37n	missense	153	11.56	20	SNP	1.000	T
GRID1	2894	genome.wustl.edu	37	10	87406826	87406826	+	Intron	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr10:87406826G>A	ENST00000327946.7	-	13	2279				RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Intron|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCTAAAGAACGTGTGCGATGG	0.577										Multiple Myeloma(13;0.14)																												dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2193+132C>T	10.37:g.87406826G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	RNA	SNP	-	NULL	ENST00000327946.7	37	NULL	CCDS31236.1	10																																																																																			GRID1	-	-	ENSG00000182771		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	146	0.00	0	G	XM_043613		87406826	87406826	-1	no_errors	ENST00000474115	ensembl	human	known	69_37n	rna	148	11.38	19	SNP	0.000	A
GRIK2	2898	genome.wustl.edu	37	6	102337557	102337557	+	Nonsense_Mutation	SNP	C	C	T	rs140472463		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:102337557C>T	ENST00000421544.1	+	11	2057	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	GRIK2_ENST00000369134.4_Nonsense_Mutation_p.R474*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.R523*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.R523*|GRIK2_ENST00000369138.1_Nonsense_Mutation_p.R523*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.R523*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	523					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R523*(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TACCTATGTTCGAGAGAAGGT	0.393																																						dbGAP											2	Substitution - Nonsense(2)	skin(2)											111.0	109.0	110.0					6																	102337557		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1567C>T	6.37:g.102337557C>T	ENSP00000397026:p.Arg523*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R523*	ENST00000421544.1	37	c.1567	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.430691	0.99169	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4578	0.67428	0.1471:0.8529:0.0:0.0	.	.	.	.	X	523;523;523;523;523;523;474;122	.	ENSP00000313276:R523X	R	+	1	2	GRIK2	102444250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.039000	0.49791	2.626000	0.88956	0.650000	0.86243	CGA	GRIK2	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000164418		0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	194	0.00	0	C			102337557	102337557	+1	no_errors	ENST00000421544	ensembl	human	known	69_37n	nonsense	191	13.96	31	SNP	1.000	T
HECTD3	79654	genome.wustl.edu	37	1	45472650	45472650	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:45472650A>C	ENST00000372172.4	-	12	1665	c.1594T>G	c.(1594-1596)Ttt>Gtt	p.F532V	HECTD3_ENST00000372168.3_Missense_Mutation_p.F142V|HECTD3_ENST00000486132.1_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	532	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCTGCAATAAATTTACACTCC	0.517																																						dbGAP											0													63.0	62.0	62.0					1																	45472650		1970	4168	6138	-	-	-	SO:0001583	missense	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1594T>G	1.37:g.45472650A>C	ENSP00000361245:p.Phe532Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.F532V	ENST00000372172.4	37	c.1594	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.161346	0.94727	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.59224	0.28;0.28	5.83	5.83	0.93111	HECT (3);	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	0.981;1.0	D;D	0.87578	0.954;0.998	D	0.86469	0.1784	10	0.87932	D	0	.	16.1937	0.82011	1.0:0.0:0.0:0.0	.	532;142	Q5T447;Q5T447-2	HECD3_HUMAN;.	V	532;142	ENSP00000361245:F532V;ENSP00000361241:F142V	ENSP00000361241:F142V	F	-	1	0	HECTD3	45245237	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.963000	0.63694	2.220000	0.72140	0.533000	0.62120	TTT	HECTD3	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000126107		0.517	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	66	0.00	0	A	NM_024602		45472650	45472650	-1	no_errors	ENST00000372172	ensembl	human	known	69_37n	missense	79	11.24	10	SNP	1.000	C
HHAT	55733	genome.wustl.edu	37	1	210796928	210796928	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:210796928C>T	ENST00000367010.1	+	11	1531	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	HHAT_ENST00000541565.1_Missense_Mutation_p.S298F|HHAT_ENST00000537898.1_Missense_Mutation_p.S370F|HHAT_ENST00000545154.1_Missense_Mutation_p.S436F|HHAT_ENST00000413764.2_Missense_Mutation_p.S435F|HHAT_ENST00000367009.1_Missense_Mutation_p.S125F|HHAT_ENST00000308852.6_Missense_Mutation_p.S390F|HHAT_ENST00000391905.3_Missense_Mutation_p.S435F|HHAT_ENST00000261458.3_Missense_Mutation_p.S435F|HHAT_ENST00000545781.1_Missense_Mutation_p.S372F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	435					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCTTCTTGTTCCACCTCGATG	0.507																																						dbGAP											0													301.0	276.0	285.0					1																	210796928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1304C>T	1.37:g.210796928C>T	ENSP00000355977:p.Ser435Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	pfam_MBOAT_fam	p.S435F	ENST00000367010.1	37	c.1304	CCDS1495.1	1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736401	0.69189	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.87	5.87	0.94306	.	0.341971	0.31370	N	0.007771	T	0.79179	0.4402	L	0.57536	1.79	0.49389	D	0.999785	D;D;D;D;D	0.67145	0.987;0.995;0.996;0.988;0.987	P;P;P;P;D	0.63488	0.908;0.894;0.897;0.878;0.915	T	0.72821	-0.4177	10	0.15066	T	0.55	-22.9509	17.1395	0.86749	0.0:1.0:0.0:0.0	.	390;436;298;370;435	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	F	435;298;436;370;435;372;435;390;435;125	ENSP00000416845:S435F;ENSP00000444995:S298F;ENSP00000438468:S436F;ENSP00000442625:S370F;ENSP00000375773:S435F;ENSP00000439229:S372F;ENSP00000261458:S435F;ENSP00000308628:S390F;ENSP00000355977:S435F;ENSP00000355976:S125F	ENSP00000261458:S435F	S	+	2	0	HHAT	208863551	1.000000	0.71417	0.760000	0.31359	0.558000	0.35554	3.945000	0.56637	2.778000	0.95560	0.650000	0.86243	TCC	HHAT	-	pfam_MBOAT_fam	ENSG00000054392		0.507	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HHAT	HGNC	protein_coding	OTTHUMT00000088662.1	369	0.00	0	C	NM_018194		210796928	210796928	+1	no_errors	ENST00000391905	ensembl	human	known	69_37n	missense	436	35.22	237	SNP	0.998	T
HIST1H2AE	3012	genome.wustl.edu	37	6	26217305	26217305	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:26217305C>T	ENST00000303910.2	+	1	141	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	35						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GCACCGCCTCCTCCGCAAAGG	0.602																																						dbGAP											0													56.0	50.0	52.0					6																	26217305		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.103C>T	6.37:g.26217305C>T	ENSP00000303373:p.Leu35Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L35F	ENST00000303910.2	37	c.103	CCDS4595.1	6	.	.	.	.	.	.	.	.	.	.	.	9.290	1.050332	0.19827	.	.	ENSG00000168274	ENST00000303910	T	0.60797	0.16	3.98	3.11	0.35812	.	0.000000	0.29783	U	0.011206	T	0.79930	0.4531	H	0.98370	4.215	0.42130	D	0.99146	.	.	.	.	.	.	D	0.85331	0.1090	8	0.87932	D	0	.	10.9104	0.47106	0.0:0.9066:0.0:0.0934	.	.	.	.	F	35	ENSP00000303373:L35F	ENSP00000303373:L35F	L	+	1	0	HIST1H2AE	26325284	1.000000	0.71417	0.201000	0.23476	0.002000	0.02628	1.913000	0.39956	1.020000	0.39573	-0.225000	0.12378	CTC	HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000168274		0.602	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	72	0.00	0	C	NM_021052		26217305	26217305	+1	no_errors	ENST00000303910	ensembl	human	known	69_37n	missense	54	47.06	48	SNP	1.000	T
IL13RA2	3598	genome.wustl.edu	37	X	114250277	114250277	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:114250277C>G	ENST00000371936.1	-	4	451	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Missense_Mutation_p.E68Q			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	68	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGTTCATATTCCACTGTGCAT	0.403																																						dbGAP											0													224.0	163.0	184.0					X																	114250277		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.202G>C	X.37:g.114250277C>G	ENSP00000361004:p.Glu68Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.E68Q	ENST00000371936.1	37	c.202	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496828	0.12762	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.42900	0.96;0.96	4.99	4.09	0.47781	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.537887	0.19640	N	0.109473	T	0.26955	0.0660	L	0.39898	1.24	0.32557	N	0.531606	P;B	0.35714	0.517;0.207	B;B	0.24269	0.052;0.029	T	0.32745	-0.9895	10	0.25751	T	0.34	-24.5137	9.2255	0.37405	0.0:0.7624:0.2376:0.0	.	68;68	D0EFR8;Q14627	.;I13R2_HUMAN	Q	68	ENSP00000361004:E68Q;ENSP00000243213:E68Q	ENSP00000243213:E68Q	E	-	1	0	IL13RA2	114156533	1.000000	0.71417	0.987000	0.45799	0.362000	0.29581	1.272000	0.33109	2.304000	0.77564	0.594000	0.82650	GAA	IL13RA2	-	superfamily_Fibronectin_type3	ENSG00000123496		0.403	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	378	0.00	0	C	NM_000640		114250277	114250277	-1	no_errors	ENST00000243213	ensembl	human	known	69_37n	missense	97	51.98	105	SNP	0.988	G
INSRR	3645	genome.wustl.edu	37	1	156821130	156821130	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:156821130C>G	ENST00000368195.3	-	5	1577	c.1181G>C	c.(1180-1182)gGc>gCc	p.G394A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	394					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTGAAAAAGCCCAGGGACAC	0.532																																						dbGAP											0													191.0	202.0	198.0					1																	156821130		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1181G>C	1.37:g.156821130C>G	ENSP00000357178:p.Gly394Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G394A	ENST00000368195.3	37	c.1181	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462365	0.43736	.	.	ENSG00000027644	ENST00000368195	T	0.78707	-1.2	5.08	4.16	0.48862	EGF receptor, L domain (1);	0.144833	0.31859	N	0.006949	T	0.51381	0.1671	.	.	.	0.32131	N	0.586815	B	0.06786	0.001	B	0.12837	0.008	T	0.51505	-0.8697	9	0.54805	T	0.06	.	7.4732	0.27361	0.0:0.645:0.2657:0.0892	.	394	P14616	INSRR_HUMAN	A	394	ENSP00000357178:G394A	ENSP00000357178:G394A	G	-	2	0	INSRR	155087754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.571000	0.67404	1.364000	0.46038	0.491000	0.48974	GGC	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000027644		0.532	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	135	0.00	0	C	NM_014215		156821130	156821130	-1	no_errors	ENST00000368195	ensembl	human	known	69_37n	missense	202	31.29	92	SNP	1.000	G
KCNA1	3736	genome.wustl.edu	37	12	5021107	5021107	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr12:5021107C>T	ENST00000382545.3	+	2	1670	c.563C>T	c.(562-564)aCg>aTg	p.T188M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	188					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TGCCTGGAGACGCTCCCCGAG	0.582																																						dbGAP											0													86.0	79.0	81.0					12																	5021107		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.563C>T	12.37:g.5021107C>T	ENSP00000371985:p.Thr188Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.T188M	ENST00000382545.3	37	c.563	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412451	0.83340	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.70631	-0.5	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	H	0.97390	3.995	0.80722	D	1	D	0.71674	0.998	P	0.62382	0.901	D	0.92850	0.6296	10	0.87932	D	0	.	17.1898	0.86876	0.0:1.0:0.0:0.0	.	188	Q09470	KCNA1_HUMAN	M	188	ENSP00000371985:T188M	ENSP00000228858:T188M	T	+	2	0	KCNA1	4891368	1.000000	0.71417	0.971000	0.41717	0.997000	0.91878	7.555000	0.82223	2.606000	0.88127	0.655000	0.94253	ACG	KCNA1	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000111262		0.582	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	76	0.00	0	C	NM_000217		5021107	5021107	+1	no_errors	ENST00000382545	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	1.000	T
ICE1	23379	genome.wustl.edu	37	5	5462931	5462931	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr5:5462931A>C	ENST00000296564.7	+	13	3706	c.3484A>C	c.(3484-3486)Agt>Cgt	p.S1162R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1162					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTAACATAAGTACTTTTTC	0.428																																						dbGAP											0													82.0	77.0	78.0					5																	5462931		1869	4117	5986	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.3484A>C	5.37:g.5462931A>C	ENSP00000296564:p.Ser1162Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.S1162R	ENST00000296564.7	37	c.3484	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531688	0.85706	.	.	ENSG00000164151	ENST00000296564	T	0.14893	2.47	5.14	3.86	0.44501	.	.	.	.	.	T	0.18425	0.0442	L	0.29908	0.895	0.09310	N	1	P	0.51351	0.944	P	0.52957	0.714	T	0.08994	-1.0695	9	0.33940	T	0.23	-5.9506	6.1815	0.20474	0.8493:0.0:0.1507:0.0	.	1162	Q9Y2F5	K0947_HUMAN	R	1162	ENSP00000296564:S1162R	ENSP00000296564:S1162R	S	+	1	0	KIAA0947	5515931	0.025000	0.19082	0.001000	0.08648	0.973000	0.67179	1.434000	0.34958	0.667000	0.31107	0.254000	0.18369	AGT	KIAA0947	-	NULL	ENSG00000164151		0.428	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	97	0.00	0	A			5462931	5462931	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	101	21.09	27	SNP	0.002	C
KIF25	3834	genome.wustl.edu	37	6	168440805	168440805	+	Silent	SNP	G	G	A	rs376194412		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:168440805G>A	ENST00000443060.2	+	7	946	c.555G>A	c.(553-555)gcG>gcA	p.A185A	KIF25_ENST00000351261.3_Silent_p.A185A|KIF25_ENST00000354419.2_Silent_p.A185A			Q9UIL4	KIF25_HUMAN	kinesin family member 25	185	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AGCTCAGGGCGAAGCACCCCA	0.592																																						dbGAP											0													94.0	81.0	86.0					6																	168440805		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.555G>A	6.37:g.168440805G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O94775|Q5SZU9	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A185	ENST00000443060.2	37	c.555	CCDS5305.1	6																																																																																			KIF25	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000125337		0.592	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25	HGNC	protein_coding	OTTHUMT00000362509.1	11	0.00	0	G			168440805	168440805	+1	no_errors	ENST00000354419	ensembl	human	known	69_37n	silent	21	19.23	5	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	GL000209.1	95635	95635	+	IGR	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrGL000209.1:95635C>A								None (None upstream) : None (None downstream)																							ATCATTGTCTCCTGCCCATAA	0.512																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															GL000209.1.37:g.95635C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.P341T		37	c.1021		GL000209.1																																																																																			KIR2DL2	-	NULL	ENSG00000215764	0	0.512					KIR2DL2	HGNC			222	0.45	1	C			95635	95635	+1	no_errors	ENST00000391731	ensembl	human	known	69_37n	missense	322	15.71	60	SNP	NULL	A
KRT85	3891	genome.wustl.edu	37	12	52760887	52760887	+	Silent	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr12:52760887G>A	ENST00000257901.3	-	1	378	c.303C>T	c.(301-303)aaC>aaT	p.N101N	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	101	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGCTCTCGTTGACCGACA	0.647																																						dbGAP											0													117.0	113.0	114.0					12																	52760887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.303C>T	12.37:g.52760887G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSB1	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.N101	ENST00000257901.3	37	c.303	CCDS8824.1	12																																																																																			KRT85	-	NULL	ENSG00000135443		0.647	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	44	0.00	0	G	NM_002283		52760887	52760887	-1	no_errors	ENST00000257901	ensembl	human	known	69_37n	silent	25	54.55	30	SNP	0.999	A
KTN1	3895	genome.wustl.edu	37	14	56114796	56114796	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr14:56114796G>A	ENST00000395314.3	+	20	2329	c.2261G>A	c.(2260-2262)gGa>gAa	p.G754E	KTN1_ENST00000438792.2_Missense_Mutation_p.G754E|KTN1_ENST00000395308.1_Missense_Mutation_p.G754E|KTN1_ENST00000416613.1_Missense_Mutation_p.G754E|KTN1_ENST00000554507.1_Missense_Mutation_p.G49E|KTN1_ENST00000395311.1_Missense_Mutation_p.G754E|KTN1_ENST00000413890.2_Missense_Mutation_p.G754E|KTN1_ENST00000395309.3_Missense_Mutation_p.G754E	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	754					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTTGAAACTGGACTTATTCAG	0.303			T	RET	papillary thryoid																																	dbGAP		Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													81.0	83.0	82.0					14																	56114796		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2261G>A	14.37:g.56114796G>A	ENSP00000378725:p.Gly754Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.G754E	ENST00000395314.3	37	c.2261	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135186	0.77662	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000554890	T;T;T;T;T;T;T;T	0.52057	0.75;1.15;0.68;1.15;0.75;0.75;1.15;0.79	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000095	T	0.57169	0.2035	N	0.25485	0.75	0.50467	D	0.999872	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0	T	0.49835	-0.8897	10	0.21540	T	0.41	-21.9737	19.6142	0.95626	0.0:0.0:1.0:0.0	.	754;49;754;754;754	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	E	754;754;754;754;754;754;754;49;49	ENSP00000394992:G754E;ENSP00000378720:G754E;ENSP00000391964:G754E;ENSP00000378725:G754E;ENSP00000378719:G754E;ENSP00000378722:G754E;ENSP00000388807:G754E;ENSP00000452073:G49E	ENSP00000378719:G754E	G	+	2	0	KTN1	55184549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.539000	0.82063	2.631000	0.89168	0.585000	0.79938	GGA	KTN1	-	NULL	ENSG00000126777		0.303	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	125	0.00	0	G			56114796	56114796	+1	no_errors	ENST00000395309	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	1.000	A
LCE1A	353131	genome.wustl.edu	37	1	152800092	152800092	+	Silent	SNP	C	C	T	rs551568000		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:152800092C>T	ENST00000335123.2	+	1	144	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTCAGCTCCGGAGGCTGCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		13832	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													43.0	48.0	47.0					1																	152800092		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.144C>T	1.37:g.152800092C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.S48	ENST00000335123.2	37	c.144	CCDS1028.1	1																																																																																			LCE1A	-	NULL	ENSG00000186844		0.667	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1A	HGNC	protein_coding	OTTHUMT00000034660.2	104	0.00	0	C	NM_178348		152800092	152800092	+1	no_errors	ENST00000335123	ensembl	human	known	69_37n	silent	140	13.58	22	SNP	0.943	T
LIPN	643418	genome.wustl.edu	37	10	90521951	90521953	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	ATC	ATC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr10:90521951_90521953delATC	ENST00000404459.1	+	2	115_117	c.115_117delATC	c.(115-117)atcdel	p.I41del		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	41					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		GCAGAGTGAAATCATCATCTACA	0.399																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.115_117delATC	10.37:g.90521957_90521959delATC	ENSP00000383923:p.Ile41del	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KIH9	In_Frame_Del	DEL	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.I41in_frame_del	ENST00000404459.1	37	c.115_117	CCDS44456.1	10																																																																																			LIPN	-	pfam_AB_hydrolase_lipase	ENSG00000204020		0.399	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	71	0.00	0	ATC	XM_926751		90521951	90521953	+1	no_errors	ENST00000404459	ensembl	human	known	69_37n	in_frame_del	44	10.20	5	DEL	0.996:1.000:0.999	-
LOXL4	84171	genome.wustl.edu	37	10	100017455	100017455	+	Silent	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr10:100017455A>G	ENST00000260702.3	-	8	1362	c.1212T>C	c.(1210-1212)aaT>aaC	p.N404N	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	404	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGCAGCATCATTCTCATGTT	0.602																																						dbGAP											0													164.0	135.0	145.0					10																	100017455		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1212T>C	10.37:g.100017455A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.N404	ENST00000260702.3	37	c.1212	CCDS7473.1	10																																																																																			LOXL4	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	ENSG00000138131		0.602	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	40	0.00	0	A	NM_032211		100017455	100017455	-1	no_errors	ENST00000260702	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.733	G
MAD2L1	4085	genome.wustl.edu	37	4	120983241	120983241	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr4:120983241T>A	ENST00000296509.6	-	3	569	c.230A>T	c.(229-231)tAc>tTc	p.Y77F		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	77	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TGAACACTTGTATAACCAATC	0.413																																						dbGAP											0													108.0	104.0	105.0					4																	120983241		2203	4300	6503	-	-	-	SO:0001583	missense	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.230A>T	4.37:g.120983241T>A	ENSP00000296509:p.Tyr77Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.Y77F	ENST00000296509.6	37	c.230	CCDS3715.1	4	.	.	.	.	.	.	.	.	.	.	T	9.072	0.997134	0.19043	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.08	3.89	0.44902	DNA-binding HORMA (4);	0.116516	0.64402	D	0.000013	T	0.40862	0.1134	L	0.28556	0.865	0.46222	D	0.998939	B	0.06786	0.001	B	0.04013	0.001	T	0.15435	-1.0437	9	0.10636	T	0.68	-2.5869	11.1384	0.48388	0.0:0.0736:0.0:0.9264	.	77	Q13257	MD2L1_HUMAN	F	77	.	ENSP00000296509:Y77F	Y	-	2	0	MAD2L1	121202689	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	3.736000	0.55052	0.864000	0.35578	0.482000	0.46254	TAC	MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.413	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	99	0.00	0	T			120983241	120983241	-1	no_errors	ENST00000296509	ensembl	human	known	69_37n	missense	90	11.76	12	SNP	1.000	A
MARCH5	54708	genome.wustl.edu	37	10	94109244	94109244	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr10:94109244C>T	ENST00000358935.2	+	4	840	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	170					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TAGACTGTGGCGCAAATACTC	0.373																																						dbGAP											0													141.0	140.0	140.0					10																	94109244		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.508C>T	10.37:g.94109244C>T	ENSP00000351813:p.Arg170Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R170C	ENST00000358935.2	37	c.508	CCDS7420.1	10	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571016	0.86542	.	.	ENSG00000198060	ENST00000358935	T	0.52057	0.68	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.71948	-0.4438	10	0.87932	D	0	-4.7559	20.5407	0.99260	0.0:1.0:0.0:0.0	.	170	Q9NX47	MARH5_HUMAN	C	170	ENSP00000351813:R170C	ENSP00000351813:R170C	R	+	1	0	MARCH5	94099224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.026000	0.57232	2.865000	0.98341	0.655000	0.94253	CGC	MARCH5	-	NULL	ENSG00000198060		0.373	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH5	HGNC	protein_coding	OTTHUMT00000049388.1	281	0.00	0	C	NM_017824		94109244	94109244	+1	no_errors	ENST00000358935	ensembl	human	known	69_37n	missense	310	22.69	91	SNP	1.000	T
MSH2	4436	genome.wustl.edu	37	2	47672761	47672761	+	Missense_Mutation	SNP	C	C	G	rs63750957		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:47672761C>G	ENST00000233146.2	+	8	1574	c.1351C>G	c.(1351-1353)Cag>Gag	p.Q451E	MSH2_ENST00000406134.1_Missense_Mutation_p.Q451E|MSH2_ENST00000543555.1_Missense_Mutation_p.Q385E	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	451					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCCAAGTTTCAGGAAATGAT	0.308			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)											103.0	101.0	101.0					2																	47672761		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1351C>G	2.37:g.47672761C>G	ENSP00000233146:p.Gln451Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.Q451E	ENST00000233146.2	37	c.1351	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756778	0.31137	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	D;D;D	0.90385	-2.66;-2.66;-2.66	5.56	5.56	0.83823	DNA mismatch repair protein MutS, core (3);	0.053036	0.85682	D	0.000000	D	0.88100	0.6346	L	0.43923	1.385	0.54753	D	0.999983	B;B;B	0.22003	0.035;0.063;0.045	B;B;B	0.32090	0.047;0.038;0.14	T	0.83107	-0.0125	10	0.10636	T	0.68	-11.0441	18.5098	0.90911	0.0:1.0:0.0:0.0	.	385;451;451	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	E	451;385;451;451;451;451;101;237	ENSP00000233146:Q451E;ENSP00000442697:Q385E;ENSP00000384199:Q451E	ENSP00000233146:Q451E	Q	+	1	0	MSH2	47526265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.497000	0.66924	2.605000	0.88082	0.655000	0.94253	CAG	MSH2	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2	ENSG00000095002		0.308	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	81	0.00	0	C			47672761	47672761	+1	no_errors	ENST00000233146	ensembl	human	known	69_37n	missense	133	12.50	19	SNP	1.000	G
MSH4	4438	genome.wustl.edu	37	1	76269499	76269499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:76269499C>T	ENST00000263187.3	+	2	432	c.328C>T	c.(328-330)Cga>Tga	p.R110*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	110					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATCTTCTGCACGAGATACTAA	0.363								Mismatch excision repair (MMR)																														dbGAP											0													94.0	98.0	97.0					1																	76269499		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.328C>T	1.37:g.76269499C>T	ENSP00000263187:p.Arg110*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R110*	ENST00000263187.3	37	c.328	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.134817	0.94517	.	.	ENSG00000057468	ENST00000263187	.	.	.	4.73	2.63	0.31362	.	1.610720	0.03746	N	0.255839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	0.4379	7.5464	0.27770	0.286:0.6221:0.0:0.0919	.	.	.	.	X	110	.	ENSP00000263187:R110X	R	+	1	2	MSH4	76042087	0.000000	0.05858	0.887000	0.34795	0.888000	0.51559	0.732000	0.26072	2.172000	0.68678	0.555000	0.69702	CGA	MSH4	-	NULL	ENSG00000057468		0.363	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	311	0.00	0	C	NM_002440		76269499	76269499	+1	no_errors	ENST00000263187	ensembl	human	known	69_37n	nonsense	186	35.19	101	SNP	0.012	T
MUC17	140453	genome.wustl.edu	37	7	100678735	100678735	+	Silent	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr7:100678735C>G	ENST00000306151.4	+	3	4102	c.4038C>G	c.(4036-4038)acC>acG	p.T1346T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1346	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAACACCACACTGGTGG	0.458																																						dbGAP											0													229.0	227.0	227.0					7																	100678735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4038C>G	7.37:g.100678735C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T1346	ENST00000306151.4	37	c.4038	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	520	0.00	0	C	NM_001040105		100678735	100678735	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	silent	444	11.02	55	SNP	0.001	G
MYH10	4628	genome.wustl.edu	37	17	8417136	8417136	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr17:8417136G>A	ENST00000269243.4	-	20	2626	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	MYH10_ENST00000379980.4_Missense_Mutation_p.R846W|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_Missense_Mutation_p.R861W|MYH10_ENST00000396239.1_Missense_Mutation_p.R851W	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	830					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCCAGTGCCGTAATTTCAGG	0.478																																						dbGAP											0													60.0	54.0	56.0					17																	8417136		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2488C>T	17.37:g.8417136G>A	ENSP00000269243:p.Arg830Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R851W	ENST00000269243.4	37	c.2551	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439288	0.83885	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.96300	-0.97;-0.97;-3.97;-0.97	4.9	4.9	0.64082	.	0.060755	0.64402	D	0.000003	D	0.98679	0.9557	H	0.96996	3.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.99107	1.0845	10	0.87932	D	0	.	13.0723	0.59068	0.0:0.0:0.7993:0.2007	.	839;861;830	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	W	830;861;851;846	ENSP00000269243:R830W;ENSP00000353590:R861W;ENSP00000379539:R851W;ENSP00000369315:R846W	ENSP00000269243:R830W	R	-	1	2	MYH10	8357861	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	3.564000	0.53791	2.532000	0.85374	0.650000	0.86243	CGG	MYH10	-	NULL	ENSG00000133026		0.478	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	202	0.00	0	G			8417136	8417136	-1	no_errors	ENST00000396239	ensembl	human	known	69_37n	missense	79	68.15	169	SNP	1.000	A
MYLK	4638	genome.wustl.edu	37	3	123456283	123456283	+	Silent	SNP	C	C	T	rs41271441		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr3:123456283C>T	ENST00000475616.1	-	5	695	c.696G>A	c.(694-696)acG>acA	p.T232T	MYLK_ENST00000360304.3_Silent_p.T232T|MYLK_ENST00000346322.5_Silent_p.T232T|MYLK_ENST00000360772.3_Silent_p.T232T|MYLK_ENST00000359169.1_Silent_p.T232T			Q15746	MYLK_HUMAN	myosin light chain kinase	232	Ig-like C2-type 2.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCACCAGGCACGTGTACACTC	0.567																																						dbGAP											0													263.0	190.0	215.0					3																	123456283		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.696G>A	3.37:g.123456283C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T232	ENST00000475616.1	37	c.696	CCDS46896.1	3																																																																																			MYLK	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000065534		0.567	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	217	0.46	1	C	NM_053025		123456283	123456283	-1	no_errors	ENST00000360304	ensembl	human	known	69_37n	silent	283	25.72	98	SNP	0.000	T
NEDD9	4739	genome.wustl.edu	37	6	11191331	11191331	+	Silent	SNP	C	C	T	rs200939595	byFrequency	TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:11191331C>T	ENST00000379446.5	-	5	937	c.771G>A	c.(769-771)ccG>ccA	p.P257P	NEDD9_ENST00000504387.1_Silent_p.P257P|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	257					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AAACCCCCTCCGGTCTGAGGT	0.557													c|||	2	0.000399361	0.0008	0.0	5008	,	,		17253	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													69.0	63.0	65.0					6																	11191331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.771G>A	6.37:g.11191331C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P257	ENST00000379446.5	37	c.771	CCDS4520.1	6																																																																																			NEDD9	-	NULL	ENSG00000111859		0.557	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	41	0.00	0	C	NM_006403		11191331	11191331	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	silent	86	21.82	24	SNP	0.001	T
NELL1	4745	genome.wustl.edu	37	11	20699519	20699519	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:20699519G>A	ENST00000357134.5	+	2	249	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	NELL1_ENST00000325319.5_Missense_Mutation_p.V33I|NELL1_ENST00000298925.5_Missense_Mutation_p.V61I|NELL1_ENST00000532434.1_Missense_Mutation_p.V33I	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	33					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATGGATATCGTCACCGAGCT	0.473																																						dbGAP											0													179.0	163.0	168.0					11																	20699519		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.97G>A	11.37:g.20699519G>A	ENSP00000349654:p.Val33Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C	p.V33I	ENST00000357134.5	37	c.97	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	0.035	-1.310797	0.01342	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.01933	4.55;4.55;4.55;4.55	6.11	1.11	0.20524	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.138090	0.46758	N	0.000266	T	0.00580	0.0019	N	0.00197	-1.87	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.46610	-0.9179	10	0.11794	T	0.64	-7.2337	6.934	0.24457	0.6621:0.1117:0.2262:0.0	.	33;61;33;33	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	I	61;33;33;33	ENSP00000298925:V61I;ENSP00000349654:V33I;ENSP00000317837:V33I;ENSP00000437170:V33I	ENSP00000298925:V61I	V	+	1	0	NELL1	20656095	0.910000	0.30920	0.004000	0.12327	0.274000	0.26718	1.521000	0.35910	-0.296000	0.08947	-2.261000	0.00279	GTC	NELL1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000165973		0.473	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	118	0.00	0	G	NM_006157		20699519	20699519	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	missense	133	26.52	48	SNP	0.660	A
NUDCD2	134492	genome.wustl.edu	37	5	162881017	162881017	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr5:162881017T>A	ENST00000302764.4	-	4	519	c.430A>T	c.(430-432)Aac>Tac	p.N144Y	NUDCD2_ENST00000519395.1_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.N119Y	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	144						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTAGTGTAGTTTCCTGAGATT	0.328																																						dbGAP											0													98.0	89.0	92.0					5																	162881017		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.430A>T	5.37:g.162881017T>A	ENSP00000304854:p.Asn144Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4V0	Missense_Mutation	SNP	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.N144Y	ENST00000302764.4	37	c.430	CCDS4361.1	5	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573889	0.86542	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83886	0.0282	9	0.87932	D	0	-5.5934	16.4461	0.83932	0.0:0.0:0.0:1.0	.	144	Q8WVJ2	NUDC2_HUMAN	Y	144;119	.	ENSP00000304854:N144Y	N	-	1	0	NUDCD2	162813595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.285000	0.76669	0.528000	0.53228	AAC	NUDCD2	-	NULL	ENSG00000170584		0.328	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	HGNC	protein_coding	OTTHUMT00000252747.3	188	0.00	0	T	NM_145266		162881017	162881017	-1	no_errors	ENST00000302764	ensembl	human	known	69_37n	missense	169	26.20	60	SNP	1.000	A
OR11H12	440153	genome.wustl.edu	37	14	19377728	19377728	+	Silent	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr14:19377728C>A	ENST00000550708.1	+	1	207	c.135C>A	c.(133-135)ctC>ctA	p.L45L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCTCACTCTTTACTACAA	0.423																																						dbGAP											0													58.0	62.0	61.0					14																	19377728		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.135C>A	14.37:g.19377728C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L45	ENST00000550708.1	37	c.135	CCDS32017.1	14																																																																																			OR11H12	-	prints_7TM_GPCR_Rhodpsn	ENSG00000257115		0.423	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	Clone_based_vega_gene	protein_coding	OTTHUMT00000408402.1	259	0.00	0	C	NM_001013354		19377728	19377728	+1	no_errors	ENST00000550708	ensembl	human	known	69_37n	silent	466	11.41	60	SNP	0.982	A
OR11H12	440153	genome.wustl.edu	37	14	19378227	19378227	+	Silent	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr14:19378227C>T	ENST00000550708.1	+	1	706	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGAATCCAACTGTTTTGCTA	0.433																																						dbGAP											0													1.0	1.0	1.0					14																	19378227		458	1015	1473	-	-	-	SO:0001819	synonymous_variant	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.634C>T	14.37:g.19378227C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L212	ENST00000550708.1	37	c.634	CCDS32017.1	14																																																																																			OR11H12	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000257115		0.433	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	Clone_based_vega_gene	protein_coding	OTTHUMT00000408402.1	243	0.00	0	C	NM_001013354		19378227	19378227	+1	no_errors	ENST00000550708	ensembl	human	known	69_37n	silent	353	14.11	58	SNP	0.000	T
OVGP1	5016	genome.wustl.edu	37	1	111957196	111957196	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:111957196C>A	ENST00000369732.3	-	11	1982	c.1927G>T	c.(1927-1929)Gtt>Ttt	p.V643F		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	643					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TAGATGGGAACAAAGCGGTTG	0.468																																						dbGAP											0													79.0	79.0	79.0					1																	111957196		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1927G>T	1.37:g.111957196C>A	ENSP00000358747:p.Val643Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.V643F	ENST00000369732.3	37	c.1927	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727779	0.30593	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05580	3.42	4.17	-1.51	0.08664	.	5.224230	0.01289	U	0.009959	T	0.01156	0.0038	N	0.22421	0.69	0.09310	N	1	P;P	0.35982	0.531;0.531	B;B	0.29862	0.108;0.108	T	0.38499	-0.9658	10	0.54805	T	0.06	.	0.5252	0.00619	0.4012:0.2264:0.1998:0.1726	.	643;707	Q12889;Q59HH5	OVGP1_HUMAN;.	F	643;707;451	ENSP00000358747:V643F	ENSP00000358743:V707F	V	-	1	0	OVGP1	111758719	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.005000	0.12855	-0.028000	0.13850	0.585000	0.79938	GTT	OVGP1	-	NULL	ENSG00000085465		0.468	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	346	0.00	0	C	NM_002557		111957196	111957196	-1	no_errors	ENST00000369732	ensembl	human	known	69_37n	missense	319	13.78	51	SNP	0.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233120153	233120153	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:233120153T>C	ENST00000258229.9	-	34	6545	c.6311A>G	c.(6310-6312)gAg>gGg	p.E2104G	PCNXL2_ENST00000344698.2_3'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2104						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CGCCACAGCCTCAGCCAGACA	0.602																																						dbGAP											0													50.0	56.0	54.0					1																	233120153		2125	4249	6374	-	-	-	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6311A>G	1.37:g.233120153T>C	ENSP00000258229:p.Glu2104Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like	p.E2104G	ENST00000258229.9	37	c.6311	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407723	0.42715	.	.	ENSG00000135749	ENST00000258229	T	0.09630	2.96	5.84	3.36	0.38483	.	0.707650	0.13539	N	0.380384	T	0.09686	0.0238	L	0.44542	1.39	0.18873	N	0.999982	P	0.34462	0.454	B	0.24541	0.054	T	0.15549	-1.0433	10	0.66056	D	0.02	.	11.3413	0.49535	0.0:0.0:0.2898:0.7102	.	2104	A6NKB5	PCX2_HUMAN	G	2104	ENSP00000258229:E2104G	ENSP00000258229:E2104G	E	-	2	0	PCNXL2	231186776	0.004000	0.15560	0.026000	0.17262	0.027000	0.11550	0.417000	0.21214	0.999000	0.39023	0.533000	0.62120	GAG	PCNXL2	-	NULL	ENSG00000135749		0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	36	0.00	0	T	NM_014801		233120153	233120153	-1	no_errors	ENST00000258229	ensembl	human	known	69_37n	missense	38	46.48	33	SNP	0.007	C
OR11L1	391189	genome.wustl.edu	37	1	248005132	248005132	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:248005132A>G	ENST00000355784.2	-	1	122	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	23						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGCCTGCCATTCAAGAAGG	0.493																																						dbGAP											0													65.0	59.0	61.0					1																	248005132		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.67T>C	1.37:g.248005132A>G	ENSP00000348033:p.Trp23Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.W23R	ENST00000355784.2	37	c.67	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	A	7.665	0.685781	0.14973	.	.	ENSG00000197591	ENST00000355784	T	0.02944	4.1	4.2	4.2	0.49525	.	0.000000	0.34484	U	0.003929	T	0.02571	0.0078	L	0.33624	1.015	0.24930	N	0.991925	P	0.35551	0.509	B	0.35727	0.209	T	0.41893	-0.9483	10	0.46703	T	0.11	.	4.7922	0.13254	0.75:0.0:0.25:0.0	.	23	Q8NGX0	O11L1_HUMAN	R	23	ENSP00000348033:W23R	ENSP00000348033:W23R	W	-	1	0	OR11L1	246071755	0.000000	0.05858	0.994000	0.49952	0.799000	0.45148	0.055000	0.14229	1.889000	0.54706	0.443000	0.29094	TGG	OR11L1	-	NULL	ENSG00000197591		0.493	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	70	0.00	0	A	NM_001001959		248005132	248005132	-1	no_errors	ENST00000355784	ensembl	human	known	69_37n	missense	139	11.46	18	SNP	0.931	G
PELI2	57161	genome.wustl.edu	37	14	56763595	56763595	+	Missense_Mutation	SNP	G	G	A	rs200311934		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr14:56763595G>A	ENST00000267460.4	+	6	1260	c.974G>A	c.(973-975)cGg>cAg	p.R325Q		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	325					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGGGGCCATCGGAGTGACACG	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18168	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													76.0	62.0	66.0					14																	56763595		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.974G>A	14.37:g.56763595G>A	ENSP00000267460:p.Arg325Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDY5	Missense_Mutation	SNP	pfam_Pellino	p.R325Q	ENST00000267460.4	37	c.974	CCDS9726.1	14	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.88	2.962686	0.53507	.	.	ENSG00000139946	ENST00000267460	T	0.40756	1.02	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.66939	2.045	0.80722	D	1	P	0.52061	0.95	P	0.49012	0.598	T	0.51903	-0.8646	10	0.40728	T	0.16	-35.1596	19.7628	0.96329	0.0:0.0:1.0:0.0	.	325	Q9HAT8	PELI2_HUMAN	Q	325	ENSP00000267460:R325Q	ENSP00000267460:R325Q	R	+	2	0	PELI2	55833348	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	6.658000	0.74407	2.672000	0.90937	0.555000	0.69702	CGG	PELI2	-	pfam_Pellino	ENSG00000139946		0.592	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	106	0.00	0	G			56763595	56763595	+1	no_errors	ENST00000267460	ensembl	human	known	69_37n	missense	44	45.68	37	SNP	1.000	A
PI3	5266	genome.wustl.edu	37	20	43804746	43804746	+	Silent	SNP	T	T	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr20:43804746T>C	ENST00000243924.3	+	2	371	c.324T>C	c.(322-324)tcT>tcC	p.S108S		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	108	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTGAAGGCTCTTGCGGGATGG	0.552																																						dbGAP											0													102.0	93.0	96.0					20																	43804746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.324T>C	20.37:g.43804746T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P618|Q6FG74	Silent	SNP	pfam_Trappin_transglut-bd_rpt,pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	p.S108	ENST00000243924.3	37	c.324	CCDS13344.1	20																																																																																			PI3	-	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core	ENSG00000124102		0.552	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI3	HGNC	protein_coding	OTTHUMT00000079418.3	164	0.00	0	T	NM_002638		43804746	43804746	+1	no_errors	ENST00000243924	ensembl	human	known	69_37n	silent	149	10.78	18	SNP	0.009	C
PIK3CA	5290	genome.wustl.edu	37	3	178941946	178941946	+	Silent	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr3:178941946A>G	ENST00000263967.3	+	15	2422	c.2265A>G	c.(2263-2265)ctA>ctG	p.L755L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	755					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGTCTCCTCTAAACCCTGCTC	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													116.0	104.0	108.0					3																	178941946		1819	4081	5900	-	-	-	SO:0001819	synonymous_variant	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2265A>G	3.37:g.178941946A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L755	ENST00000263967.3	37	c.2265	CCDS43171.1	3																																																																																			PIK3CA	-	superfamily_Kinase-like_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	106	0.00	0	A			178941946	178941946	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	silent	168	17.65	36	SNP	0.890	G
PIP5K1A	8394	genome.wustl.edu	37	1	151215029	151215029	+	Silent	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:151215029A>G	ENST00000368888.4	+	14	2048	c.1626A>G	c.(1624-1626)caA>caG	p.Q542Q	PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000441902.2_Silent_p.Q502Q|PIP5K1A_ENST00000368890.4_Silent_p.Q480Q|PIP5K1A_ENST00000409426.1_Silent_p.Q530Q	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	542					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGACTTTGCAAATGCTAACTA	0.418																																					Pancreas(80;36 1443 2325 16095 21302)	dbGAP											0													98.0	98.0	98.0					1																	151215029		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1626A>G	1.37:g.151215029A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.Q542	ENST00000368888.4	37	c.1626	CCDS44219.1	1																																																																																			PIP5K1A	-	NULL	ENSG00000143398		0.418	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	203	0.00	0	A	NM_003557		151215029	151215029	+1	no_errors	ENST00000368888	ensembl	human	known	69_37n	silent	282	20.34	72	SNP	0.839	G
PRDM14	63978	genome.wustl.edu	37	8	70981496	70981496	+	Silent	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr8:70981496C>T	ENST00000276594.2	-	2	801	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	200					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGCAGGTCCTCCTCCGTGA	0.602																																					NSCLC(129;99 1813 5906 40656 46114)	dbGAP											0													85.0	86.0	86.0					8																	70981496		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.600G>A	8.37:g.70981496C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UX9	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E200	ENST00000276594.2	37	c.600	CCDS6206.1	8																																																																																			PRDM14	-	NULL	ENSG00000147596		0.602	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	14	0.00	0	C			70981496	70981496	-1	no_errors	ENST00000276594	ensembl	human	known	69_37n	silent	27	22.86	8	SNP	0.993	T
PTPRD	5789	genome.wustl.edu	37	9	8471045	8471045	+	Missense_Mutation	SNP	C	C	T	rs201325763		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr9:8471045C>T	ENST00000381196.4	-	28	3997	c.3454G>A	c.(3454-3456)Ggg>Agg	p.G1152R	PTPRD_ENST00000397617.3_Missense_Mutation_p.G731R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1152R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1152R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G731R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G738R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G1139R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1130R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G741R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G741R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G738R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1152					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAAATTTCCCGCGAGATTTC	0.368										TSP Lung(15;0.13)																												dbGAP											0													144.0	140.0	141.0					9																	8471045		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3454G>A	9.37:g.8471045C>T	ENSP00000370593:p.Gly1152Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G1152R	ENST00000381196.4	37	c.3454	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832859	0.91036	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.59;0.65;0.78;0.87;0.66;0.56;0.55;0.78;0.87	5.72	5.72	0.89469	.	0.106561	0.64402	D	0.000005	T	0.68026	0.2956	L	0.47016	1.485	0.80722	D	1	D;P;D;D;P;B;B;D;B	0.89917	1.0;0.645;1.0;1.0;0.738;0.452;0.0;0.997;0.019	D;B;D;D;B;B;B;P;B	0.83275	0.996;0.053;0.996;0.996;0.263;0.03;0.002;0.811;0.002	T	0.63580	-0.6605	9	.	.	.	.	19.4857	0.95027	0.0:1.0:0.0:0.0	.	731;736;741;741;738;738;1139;1152;1152	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1152;1152;1139;1130;741;731;738;738;623;1152;741;731	ENSP00000370593:G1152R;ENSP00000348812:G1152R;ENSP00000353187:G1139R;ENSP00000351293:G1130R;ENSP00000347373:G741R;ENSP00000380741:G731R;ENSP00000380735:G738R;ENSP00000440515:G738R;ENSP00000438164:G1152R;ENSP00000417093:G741R;ENSP00000380731:G731R	.	G	-	1	0	PTPRD	8461045	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.455000	0.66658	2.711000	0.92665	0.655000	0.94253	GGG	PTPRD	-	NULL	ENSG00000153707		0.368	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	322	0.62	2	C			8471045	8471045	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	190	12.79	28	SNP	1.000	T
PTPRT	11122	genome.wustl.edu	37	20	40757458	40757458	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr20:40757458C>T	ENST00000373187.1	-	19	2782	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	PTPRT_ENST00000373190.1_Missense_Mutation_p.R927Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R937Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R918Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R918Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.R947Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R931Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	928	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R950L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCCTCACCCGGGAATGGTC	0.522																																						dbGAP											1	Substitution - Missense(1)	lung(1)											61.0	70.0	67.0					20																	40757458		2083	4211	6294	-	-	-	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2783G>A	20.37:g.40757458C>T	ENSP00000362283:p.Arg928Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R950Q	ENST00000373187.1	37	c.2849	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990358	0.93106	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88444	0.3044	10	0.87932	D	0	.	14.83	0.70139	0.0:1.0:0.0:0.0	.	950;928	O14522-1;O14522	.;PTPRT_HUMAN	Q	927;928;931;937;950;918;918	ENSP00000362286:R927Q;ENSP00000362283:R928Q;ENSP00000362289:R931Q;ENSP00000348408:R937Q;ENSP00000362294:R950Q;ENSP00000362280:R918Q;ENSP00000362297:R918Q	ENSP00000348408:R937Q	R	-	2	0	PTPRT	40190872	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.787000	0.69013	2.647000	0.89833	0.655000	0.94253	CGG	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.522	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	89	0.00	0	C			40757458	40757458	-1	no_errors	ENST00000373198	ensembl	human	known	69_37n	missense	68	25.00	23	SNP	1.000	T
RSBN1	54665	genome.wustl.edu	37	1	114308631	114308631	+	Silent	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:114308631G>A	ENST00000261441.5	-	7	2443	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	794						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTCTTGCAGATTGTGTTGC	0.353																																						dbGAP											0													82.0	79.0	80.0					1																	114308631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2380C>T	1.37:g.114308631G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	NULL	p.L794	ENST00000261441.5	37	c.2380	CCDS862.1	1																																																																																			RSBN1	-	NULL	ENSG00000081019		0.353	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	76	0.00	0	G	NM_018364		114308631	114308631	-1	no_errors	ENST00000261441	ensembl	human	known	69_37n	silent	117	17.02	24	SNP	1.000	A
SBF2	81846	genome.wustl.edu	37	11	9875162	9875162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:9875162G>A	ENST00000256190.8	-	20	2598	c.2461C>T	c.(2461-2463)Cga>Tga	p.R821*	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	821					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCAATAAATCGGGTAATGAAC	0.408																																						dbGAP											0													195.0	174.0	181.0					11																	9875162		2201	4294	6495	-	-	-	SO:0001587	stop_gained	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2461C>T	11.37:g.9875162G>A	ENSP00000256190:p.Arg821*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R821*	ENST00000256190.8	37	c.2461	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.857335	0.98528	.	.	ENSG00000133812	ENST00000256190	.	.	.	5.54	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9167	0.63902	0.0:0.0:0.6256:0.3744	.	.	.	.	X	821	.	ENSP00000256190:R821X	R	-	1	2	SBF2	9831738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.885000	0.48570	1.456000	0.47831	0.591000	0.81541	CGA	SBF2	-	NULL	ENSG00000133812		0.408	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	291	0.00	0	G	NM_030962		9875162	9875162	-1	no_errors	ENST00000256190	ensembl	human	known	69_37n	nonsense	201	46.28	174	SNP	1.000	A
SDR16C5	195814	genome.wustl.edu	37	8	57214113	57214113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr8:57214113C>A	ENST00000303749.3	-	7	1493	c.856G>T	c.(856-858)Gga>Tga	p.G286*	SDR16C5_ENST00000522671.1_3'UTR|SDR16C5_ENST00000396721.2_Nonsense_Mutation_p.G242*	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	286					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ATAAGCAGTCCTGTCTTGAGG	0.403																																						dbGAP											0													168.0	158.0	161.0					8																	57214113		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.856G>T	8.37:g.57214113C>A	ENSP00000307607:p.Gly286*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGK2|Q330K3|Q8TDV9|Q96LX1	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.G286*	ENST00000303749.3	37	c.856	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412102	0.62511	.	.	ENSG00000170786	ENST00000396721;ENST00000303749	.	.	.	5.63	2.62	0.31277	.	0.525303	0.21879	N	0.067779	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.7509	0.18146	0.3521:0.5494:0.0:0.0985	.	.	.	.	X	242;286	.	ENSP00000307607:G286X	G	-	1	0	SDR16C5	57376667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.173000	0.16724	0.219000	0.20840	0.655000	0.94253	GGA	SDR16C5	-	NULL	ENSG00000170786		0.403	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	204	0.00	0	C	NM_138969		57214113	57214113	-1	no_errors	ENST00000303749	ensembl	human	known	69_37n	nonsense	721	13.33	111	SNP	0.000	A
SLC13A4	26266	genome.wustl.edu	37	7	135380224	135380224	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr7:135380224G>T	ENST00000354042.4	-	9	1597	c.908C>A	c.(907-909)gCc>gAc	p.A303D		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	303					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CACCTCTGCGGCTGGATACTG	0.507																																						dbGAP											0													52.0	52.0	52.0					7																	135380224		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.908C>A	7.37:g.135380224G>T	ENSP00000297282:p.Ala303Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1Q4|Q8N631	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.A303D	ENST00000354042.4	37	c.908	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	G	0.584	-0.835740	0.02713	.	.	ENSG00000164707	ENST00000354042	T	0.03035	4.07	5.21	3.25	0.37280	.	0.468250	0.23239	N	0.050368	T	0.00967	0.0032	N	0.00424	-1.51	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.12156	0.007;0.002	T	0.46498	-0.9187	10	0.02654	T	1	-13.9088	8.5214	0.33277	0.0:0.1505:0.5754:0.2741	.	172;303	Q59HF0;Q9UKG4	.;S13A4_HUMAN	D	303	ENSP00000297282:A303D	ENSP00000297282:A303D	A	-	2	0	SLC13A4	135030764	0.910000	0.30920	0.868000	0.34077	0.962000	0.63368	2.487000	0.45268	1.162000	0.42619	0.655000	0.94253	GCC	SLC13A4	-	pfam_Na/sul_symport	ENSG00000164707		0.507	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	72	0.00	0	G	NM_012450		135380224	135380224	-1	no_errors	ENST00000354042	ensembl	human	known	69_37n	missense	150	10.71	18	SNP	0.012	T
SLC18A1	6570	genome.wustl.edu	37	8	20008221	20008221	+	Silent	SNP	G	G	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr8:20008221G>T	ENST00000276373.5	-	11	1316	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	SLC18A1_ENST00000519026.1_Silent_p.L318L|SLC18A1_ENST00000440926.1_Silent_p.L350L|SLC18A1_ENST00000381608.4_Silent_p.L350L|SLC18A1_ENST00000265808.7_Silent_p.L318L|SLC18A1_ENST00000437980.1_Silent_p.L350L	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	350					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TGGTGCCAATGAGGTAGGACA	0.493																																						dbGAP											0													192.0	160.0	171.0					8																	20008221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1050C>A	8.37:g.20008221G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ5|Q9BRE4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.L350	ENST00000276373.5	37	c.1050	CCDS6013.1	8																																																																																			SLC18A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.493	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	215	0.00	0	G			20008221	20008221	-1	no_errors	ENST00000276373	ensembl	human	known	69_37n	silent	110	29.03	45	SNP	0.982	T
SLC18A1	6570	genome.wustl.edu	37	8	20022582	20022582	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr8:20022582C>G	ENST00000276373.5	-	9	1161	c.895G>C	c.(895-897)Gac>Cac	p.D299H	SLC18A1_ENST00000519026.1_Missense_Mutation_p.D299H|SLC18A1_ENST00000440926.1_Missense_Mutation_p.D299H|SLC18A1_ENST00000381608.4_Missense_Mutation_p.D299H|SLC18A1_ENST00000265808.7_Missense_Mutation_p.D299H|SLC18A1_ENST00000437980.1_Missense_Mutation_p.D299H	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	299					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ATGTAAGGGTCTTTGAGAAGC	0.507																																						dbGAP											0													103.0	95.0	98.0					8																	20022582		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.895G>C	8.37:g.20022582C>G	ENSP00000276373:p.Asp299His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.D299H	ENST00000276373.5	37	c.895	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612517	0.87258	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93933	0.7216	10	0.87932	D	0	-24.4114	17.4796	0.87669	0.0:1.0:0.0:0.0	.	299;299;299	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	H	299	ENSP00000265808:D299H;ENSP00000276373:D299H;ENSP00000387549:D299H;ENSP00000413361:D299H;ENSP00000429664:D299H;ENSP00000371021:D299H	ENSP00000265808:D299H	D	-	1	0	SLC18A1	20066862	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.345000	0.79337	2.461000	0.83175	0.655000	0.94253	GAC	SLC18A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.507	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	94	0.00	0	C			20022582	20022582	-1	no_errors	ENST00000276373	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	1.000	G
SLC45A2	51151	genome.wustl.edu	37	5	33984503	33984503	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr5:33984503G>C	ENST00000296589.4	-	1	332	c.186C>G	c.(184-186)agC>agG	p.S62R	SLC45A2_ENST00000509381.1_Missense_Mutation_p.S62R|SLC45A2_ENST00000382102.3_Missense_Mutation_p.S62R|SLC45A2_ENST00000342059.3_Missense_Mutation_p.S62R|SLC45A2_ENST00000345083.5_Missense_Mutation_p.S62R	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	62					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGACCTACGCTGAGCAGGA	0.607																																					Ovarian(31;380 859 8490 22203 49048)	dbGAP											0													58.0	48.0	51.0					5																	33984503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.186C>G	5.37:g.33984503G>C	ENSP00000296589:p.Ser62Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S62R	ENST00000296589.4	37	c.186	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450604	0.63290	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.62	1.29	0.21616	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.83692	2.655	0.58432	D	0.999998	D;P;P	0.89917	1.0;0.592;0.806	D;P;P	0.83275	0.996;0.592;0.804	D	0.93008	0.6429	10	0.33141	T	0.24	-15.9276	11.6093	0.51049	0.3583:0.0:0.6417:0.0	.	62;62;62	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	R	62	ENSP00000296589:S62R;ENSP00000341014:S62R;ENSP00000371534:S62R;ENSP00000421100:S62R;ENSP00000340444:S62R	ENSP00000296589:S62R	S	-	3	2	SLC45A2	34020260	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.694000	0.25512	0.320000	0.23234	-0.271000	0.10264	AGC	SLC45A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000164175		0.607	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	61	0.00	0	G	NM_016180		33984503	33984503	-1	no_errors	ENST00000296589	ensembl	human	known	69_37n	missense	86	19.63	21	SNP	1.000	C
SLC4A4	8671	genome.wustl.edu	37	4	72205191	72205191	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr4:72205191G>T	ENST00000264485.5	+	4	475	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	SLC4A4_ENST00000512686.1_Missense_Mutation_p.G76W|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G120W|SLC4A4_ENST00000340595.3_Missense_Mutation_p.G76W|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G120W|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	120					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GGCCGTGGATGGGCAGGAGAT	0.567																																						dbGAP											0													72.0	68.0	70.0					4																	72205191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.358G>T	4.37:g.72205191G>T	ENSP00000264485:p.Gly120Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.G120W	ENST00000264485.5	37	c.358	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498425	0.85069	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.49	5.49	0.81192	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93575	0.6907	10	0.87932	D	0	.	19.3765	0.94512	0.0:0.0:1.0:0.0	.	120;120;76;76;120	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R1	.;.;.;.;S4A4_HUMAN	W	120;120;120;76;76	ENSP00000264485:G120W;ENSP00000393557:G120W;ENSP00000307349:G120W;ENSP00000422400:G76W;ENSP00000344272:G76W	ENSP00000264485:G120W	G	+	1	0	SLC4A4	72424055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.566000	0.86566	0.591000	0.81541	GGG	SLC4A4	-	superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.567	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	172	0.58	1	G	NM_003759		72205191	72205191	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	missense	190	13.24	29	SNP	1.000	T
SORBS3	10174	genome.wustl.edu	37	8	22428702	22428703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr8:22428702_22428703insC	ENST00000240123.7	+	18	2094_2095	c.1711_1712insC	c.(1711-1713)ttcfs	p.F571fs	SORBS3_ENST00000428103.1_Frame_Shift_Ins_p.F229fs	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	571					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGGCTTCTCCTTCCCCACCCAG	0.688																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	Exception_encountered	8.37:g.22428702_22428703insC	ENSP00000240123:p.Phe571fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.F571fs	ENST00000240123.7	37	c.1711_1712	CCDS6031.1	8																																																																																			SORBS3	-	NULL	ENSG00000120896		0.688	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	10	0.00	0	-	NM_005775		22428702	22428703	+1	no_errors	ENST00000240123	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.181:0.014	C
SPATA6	54558	genome.wustl.edu	37	1	48764474	48764474	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:48764474G>T	ENST00000371847.3	-	13	1542	c.1378C>A	c.(1378-1380)Ccc>Acc	p.P460T	SPATA6_ENST00000371843.3_Missense_Mutation_p.P444T|SPATA6_ENST00000396199.3_Missense_Mutation_p.P388T	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	460					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TCAAAGATGGGTCGGTGGGAT	0.458																																						dbGAP											0													163.0	164.0	163.0					1																	48764474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1378C>A	1.37:g.48764474G>T	ENSP00000360913:p.Pro460Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3N7|Q8WUE6	Missense_Mutation	SNP	NULL	p.P460T	ENST00000371847.3	37	c.1378	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199257	0.38806	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	T;T;T	0.10960	2.82;2.82;2.82	4.78	3.83	0.44106	.	0.213615	0.38005	N	0.001852	T	0.08268	0.0206	N	0.08118	0	0.28902	N	0.893189	P;P;P	0.44816	0.545;0.844;0.844	B;P;P	0.48598	0.15;0.583;0.583	T	0.07195	-1.0785	10	0.44086	T	0.13	.	10.069	0.42322	0.0:0.222:0.778:0.0	.	388;444;460	B4DX17;Q9NWH7-2;Q9NWH7	.;.;SPAT6_HUMAN	T	460;444;388	ENSP00000360913:P460T;ENSP00000360909:P444T;ENSP00000379502:P388T	ENSP00000360909:P444T	P	-	1	0	SPATA6	48537061	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.568000	0.53820	2.474000	0.83562	0.563000	0.77884	CCC	SPATA6	-	NULL	ENSG00000132122		0.458	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	393	0.00	0	G	NM_019073		48764474	48764474	-1	no_errors	ENST00000371847	ensembl	human	known	69_37n	missense	263	29.30	109	SNP	1.000	T
STON1	11037	genome.wustl.edu	37	2	48807847	48807847	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:48807847G>T	ENST00000406226.1	+	3	270	c.75G>T	c.(73-75)aaG>aaT	p.K25N	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K25N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K25N|STON1_ENST00000404752.1_Missense_Mutation_p.K25N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K25N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K25N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K25N|STON1_ENST00000309835.3_Missense_Mutation_p.K25N	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	25					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAAGTCAAAGAATTTTCCTC	0.463																																						dbGAP											0													82.0	79.0	80.0					2																	48807847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.75G>T	2.37:g.48807847G>T	ENSP00000384615:p.Lys25Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.K25N	ENST00000406226.1	37	c.75	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089000	0.36855	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88;3.05	5.35	4.47	0.54385	.	0.735154	0.13687	N	0.369810	T	0.12220	0.0297	L	0.56769	1.78	0.20703	N	0.999868	P;P;B	0.43231	0.801;0.651;0.201	B;B;B	0.40329	0.326;0.109;0.081	T	0.10019	-1.0648	10	0.10377	T	0.69	.	11.9988	0.53219	0.0835:0.0:0.9165:0.0	.	25;25;25	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	N	25	ENSP00000385273:K25N;ENSP00000384615:K25N;ENSP00000310969:K25N;ENSP00000385499:K25N;ENSP00000385701:K25N;ENSP00000378236:K25N;ENSP00000311493:K25N;ENSP00000378234:K25N	ENSP00000310969:K25N	K	+	3	2	STON1-GTF2A1L;STON1	48661351	0.997000	0.39634	0.839000	0.33178	0.974000	0.67602	2.084000	0.41625	1.616000	0.50265	0.655000	0.94253	AAG	STON1-GTF2A1L	-	NULL	ENSG00000068781		0.463	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	158	0.00	0	G	NM_006873		48807847	48807847	+1	no_errors	ENST00000309827	ensembl	human	known	69_37n	missense	226	16.61	45	SNP	0.802	T
STAMBP	10617	genome.wustl.edu	37	2	74058086	74058086	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:74058086C>T	ENST00000394070.2	+	2	606	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	STAMBP_ENST00000339566.3_Missense_Mutation_p.R35W|STAMBP_ENST00000409707.1_Missense_Mutation_p.R35W|STAMBP_ENST00000394073.1_Missense_Mutation_p.R35W|STAMBP_ENST00000536064.1_Missense_Mutation_p.R35W	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	35	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TCCACCCCGTCGGTACTTCCG	0.522																																						dbGAP											0													128.0	115.0	120.0					2																	74058086		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.103C>T	2.37:g.74058086C>T	ENSP00000377633:p.Arg35Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.R35W	ENST00000394070.2	37	c.103	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173624	0.38413	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.54071	1.73;1.73;1.68;1.73;1.73;0.59	4.67	1.81	0.25067	.	0.057634	0.64402	N	0.000002	T	0.46756	0.1409	M	0.69823	2.125	0.80722	D	1	D	0.59357	0.985	B	0.43018	0.405	T	0.38134	-0.9675	10	0.42905	T	0.14	-11.6465	5.2978	0.15762	0.2815:0.5589:0.0:0.1596	.	35	O95630	STABP_HUMAN	W	35	ENSP00000344742:R35W;ENSP00000386548:R35W;ENSP00000413874:R35W;ENSP00000377636:R35W;ENSP00000377633:R35W;ENSP00000443502:R35W	ENSP00000344742:R35W	R	+	1	2	STAMBP	73911594	0.995000	0.38212	0.886000	0.34754	0.913000	0.54294	3.306000	0.51881	0.266000	0.21894	-0.793000	0.03317	CGG	STAMBP	-	NULL	ENSG00000124356		0.522	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	62	0.00	0	C	NM_006463		74058086	74058086	+1	no_errors	ENST00000339566	ensembl	human	known	69_37n	missense	86	17.31	18	SNP	0.942	T
T	6862	genome.wustl.edu	37	6	166580202	166580202	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:166580202G>T	ENST00000296946.2	-	3	817	c.349C>A	c.(349-351)Ccg>Acg	p.P117T	T_ENST00000366871.3_Missense_Mutation_p.P117T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	117					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGCGCCTGCGGCTCCGGCTTG	0.647									Chordoma, Familial Clustering of																													dbGAP											0													47.0	50.0	49.0					6																	166580202		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.349C>A	6.37:g.166580202G>T	ENSP00000296946:p.Pro117Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ERD6|Q4KMP4	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.P117T	ENST00000296946.2	37	c.349	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976771	0.92982	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.88201	-2.35;-2.35;-2.35	4.62	4.62	0.57501	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	M	0.90705	3.14	0.80722	D	1	P;D;P	0.53745	0.882;0.962;0.926	P;P;P	0.55087	0.667;0.7;0.768	D	0.93665	0.6985	10	0.51188	T	0.08	.	16.8408	0.85968	0.0:0.0:1.0:0.0	.	117;117;117	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	T	117	ENSP00000355841:P117T;ENSP00000296946:P117T;ENSP00000355836:P117T	ENSP00000296946:P117T	P	-	1	0	T	166500192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.123000	0.94387	2.290000	0.77057	0.655000	0.94253	CCG	T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury	ENSG00000164458		0.647	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	18	0.00	0	G	NM_003181		166580202	166580202	-1	no_errors	ENST00000296946	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
TAS1R1	80835	genome.wustl.edu	37	1	6634970	6634970	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:6634970A>G	ENST00000333172.6	+	3	971	c.778A>G	c.(778-780)Atg>Gtg	p.M260V	TAS1R1_ENST00000328191.4_Missense_Mutation_p.M260V|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	260					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTGCCTCATGCGCCACCT	0.612																																						dbGAP											0													65.0	66.0	65.0					1																	6634970		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.778A>G	1.37:g.6634970A>G	ENSP00000331867:p.Met260Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.M260V	ENST00000333172.6	37	c.778	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.293481	0.00245	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.83992	-1.79;-1.79	5.4	0.555	0.17247	Extracellular ligand-binding receptor (1);	0.534882	0.20502	N	0.091062	T	0.52175	0.1718	N	0.02334	-0.595	0.31385	N	0.678599	B;B	0.15141	0.012;0.009	B;B	0.18263	0.012;0.021	T	0.52049	-0.8627	10	0.02654	T	1	.	5.6673	0.17702	0.4728:0.1489:0.3783:0.0	.	260;260	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	V	260	ENSP00000331867:M260V;ENSP00000327705:M260V	ENSP00000327705:M260V	M	+	1	0	TAS1R1	6557557	1.000000	0.71417	0.005000	0.12908	0.012000	0.07955	1.125000	0.31332	0.048000	0.15891	0.533000	0.62120	ATG	TAS1R1	-	pfam_ANF_lig-bd_rcpt	ENSG00000173662		0.612	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	16	0.00	0	A			6634970	6634970	+1	no_errors	ENST00000333172	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	0.892	G
TBC1D9	23158	genome.wustl.edu	37	4	141543579	141543579	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr4:141543579G>A	ENST00000442267.2	-	21	3645	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1191							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGCCGCTCCGCACCAGGACC	0.667																																						dbGAP											0													30.0	35.0	34.0					4																	141543579		2097	4194	6291	-	-	-	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3571C>T	4.37:g.141543579G>A	ENSP00000411197:p.Arg1191Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.R1191W	ENST00000442267.2	37	c.3571	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928396	0.73327	.	.	ENSG00000109436	ENST00000442267	T	0.08896	3.04	5.01	5.01	0.66863	.	0.055070	0.85682	D	0.000000	T	0.12178	0.0296	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	P	0.48677	0.586	T	0.02358	-1.1171	10	0.66056	D	0.02	.	18.3423	0.90309	0.0:0.0:1.0:0.0	.	1191	Q6ZT07	TBCD9_HUMAN	W	1191	ENSP00000411197:R1191W	ENSP00000411197:R1191W	R	-	1	2	TBC1D9	141763029	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	4.541000	0.60670	2.319000	0.78375	0.655000	0.94253	CGG	TBC1D9	-	NULL	ENSG00000109436		0.667	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	43	0.00	0	G	NM_015130		141543579	141543579	-1	no_errors	ENST00000442267	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	1.000	A
TCP10	6953	genome.wustl.edu	37	6	167786750	167786750	+	Missense_Mutation	SNP	C	C	A	rs143094588	byFrequency	TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr6:167786750C>A	ENST00000397829.4	-	8	1055	c.888G>T	c.(886-888)aaG>aaT	p.K296N	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	323						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGCCTTGCCCTTTGGATGTC	0.542																																						dbGAP											0													152.0	140.0	144.0					6																	167786750		1876	4109	5985	-	-	-	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.888G>T	6.37:g.167786750C>A	ENSP00000380929:p.Lys296Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.K296N	ENST00000397829.4	37	c.888	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	c	0	-2.730174	0.00089	.	.	ENSG00000203690	ENST00000397829	T	0.20881	2.04	1.83	-3.66	0.04489	.	.	.	.	.	T	0.01454	0.0047	N	0.04508	-0.205	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.34950	-0.9808	9	0.08381	T	0.77	.	6.267	0.20932	0.2085:0.3087:0.4827:0.0	.	323	Q12799	TCP10_HUMAN	N	296	ENSP00000380929:K296N	ENSP00000380929:K296N	K	-	3	2	TCP10	167706740	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.825000	0.00181	-3.075000	0.00252	-2.817000	0.00109	AAG	TCP10	-	NULL	ENSG00000203690		0.542	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	29	0.00	0	C	NM_004610		167786750	167786750	-1	no_errors	ENST00000397829	ensembl	human	known	69_37n	missense	46	13.21	7	SNP	0.000	A
TGFBI	7045	genome.wustl.edu	37	5	135391372	135391372	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr5:135391372C>T	ENST00000442011.2	+	11	1575	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	TGFBI_ENST00000305126.8_Missense_Mutation_p.L472F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	472	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGCAGAGCCTCTGCATTGA	0.562																																						dbGAP											0													40.0	40.0	40.0					5																	135391372		1922	4122	6044	-	-	-	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1414C>T	5.37:g.135391372C>T	ENSP00000416330:p.Leu472Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain	p.L472F	ENST00000442011.2	37	c.1414	CCDS47266.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191453|4.191453	0.78902|0.78902	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000514554	D;D|.	0.91124|.	-2.79;-2.79|.	6.17|6.17	4.16|4.16	0.48862|0.48862	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72803|0.72803	0.3506|0.3506	M|M	0.78637|0.78637	2.42|2.42	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.65815|.	0.995;0.987|.	D;P|.	0.63957|.	0.92;0.876|.	T|T	0.73936|0.73936	-0.3825|-0.3825	10|5	0.44086|.	T|.	0.13|.	-1.3176|-1.3176	11.6528|11.6528	0.51299|0.51299	0.0:0.8356:0.0:0.1644|0.0:0.8356:0.0:0.1644	.|.	205;472|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	F|L	472;205;472|189	ENSP00000416330:L472F;ENSP00000306306:L472F|.	ENSP00000306306:L472F|.	L|P	+|+	1|2	0|0	TGFBI|TGFBI	135419271|135419271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.743000|0.743000	0.42351|0.42351	3.098000|3.098000	0.50259|0.50259	1.368000|1.368000	0.46115|0.46115	0.655000|0.655000	0.94253|0.94253	CTC|CCT	TGFBI	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000120708		0.562	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	HGNC	protein_coding	OTTHUMT00000372108.1	25	0.00	0	C			135391372	135391372	+1	no_errors	ENST00000305126	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	T
TLN1	7094	genome.wustl.edu	37	9	35722177	35722177	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr9:35722177A>G	ENST00000314888.9	-	9	1240	c.887T>C	c.(886-888)gTc>gCc	p.V296A	TLN1_ENST00000540444.1_Missense_Mutation_p.V296A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	296	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACGTAGCGGACCTTGGCCTC	0.478																																						dbGAP											0													198.0	151.0	167.0					9																	35722177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.887T>C	9.37:g.35722177A>G	ENSP00000316029:p.Val296Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V296A	ENST00000314888.9	37	c.887	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853415	0.91355	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.78364	-1.17;-1.17	5.93	5.93	0.95920	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.64080	1.96	0.80722	D	1	B	0.19935	0.04	B	0.34722	0.188	T	0.74665	-0.3589	10	0.33141	T	0.24	-16.8874	16.3756	0.83387	1.0:0.0:0.0:0.0	.	296	Q9Y490	TLN1_HUMAN	A	296	ENSP00000316029:V296A;ENSP00000442981:V296A	ENSP00000316029:V296A	V	-	2	0	TLN1	35712177	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	9.339000	0.96797	2.270000	0.75569	0.460000	0.39030	GTC	TLN1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000137076		0.478	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	82	0.00	0	A	NM_006289		35722177	35722177	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	missense	163	22.01	46	SNP	1.000	G
TLR7	51284	genome.wustl.edu	37	X	12904335	12904335	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:12904335G>A	ENST00000380659.3	+	3	847	c.708G>A	c.(706-708)atG>atA	p.M236I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	236					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ACAACAACATGATTGCAAAAA	0.363																																						dbGAP											0													68.0	62.0	64.0					X																	12904335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.708G>A	X.37:g.12904335G>A	ENSP00000370034:p.Met236Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D1CS69|Q9NR98	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.M236I	ENST00000380659.3	37	c.708	CCDS14151.1	X	.	.	.	.	.	.	.	.	.	.	G	2.253	-0.371179	0.05034	.	.	ENSG00000196664	ENST00000380659	T	0.02369	4.32	5.41	-0.535	0.11879	.	0.461125	0.22603	N	0.057926	T	0.01489	0.0048	N	0.12569	0.235	0.20403	N	0.999903	B	0.02656	0.0	B	0.01281	0.0	T	0.44375	-0.9332	10	0.36615	T	0.2	.	3.3028	0.06989	0.1853:0.3938:0.2824:0.1385	.	236	Q9NYK1	TLR7_HUMAN	I	236	ENSP00000370034:M236I	ENSP00000370034:M236I	M	+	3	0	TLR7	12814256	0.347000	0.24853	0.130000	0.21974	0.010000	0.07245	-0.033000	0.12246	-0.149000	0.11215	-0.231000	0.12243	ATG	TLR7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000196664		0.363	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR7	HGNC	protein_coding	OTTHUMT00000055769.1	432	0.00	0	G	NM_016562		12904335	12904335	+1	no_errors	ENST00000380659	ensembl	human	known	69_37n	missense	326	13.26	50	SNP	0.593	A
TPTE	7179	genome.wustl.edu	37	21	10909699	10909699	+	Intron	SNP	G	G	C	rs574200933		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr21:10909699G>C	ENST00000361285.4	-	22	1779				TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gccctgcgaagtgtgctgccc	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1449+607C>G	21.37:g.10909699G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	p.L307V	ENST00000361285.4	37	c.919	CCDS13560.2	21																																																																																			TPTE	-	NULL	ENSG00000166157		0.522	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	292	0.00	0	G			10909699	10909699	-1	no_start_codon	ENST00000341326	ensembl	human	known	69_37n	missense	251	36.13	142	SNP	0.014	C
TRIM51	84767	genome.wustl.edu	37	11	55658869	55658869	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr11:55658869G>A	ENST00000449290.2	+	7	1212	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E231K	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	374	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GATAGATGGAGAGGAGGGACT	0.443																																						dbGAP											0													30.0	32.0	31.0					11																	55658869		2089	4009	6098	-	-	-	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1120G>A	11.37:g.55658869G>A	ENSP00000395086:p.Glu374Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E374K	ENST00000449290.2	37	c.1120		11	.	.	.	.	.	.	.	.	.	.	.	1.469	-0.560432	0.03939	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.61742	0.08;0.08	0.655	-1.31	0.09230	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.43255	0.1239	L	0.52364	1.645	0.09310	N	1	B	0.09022	0.002	B	0.17433	0.018	T	0.31806	-0.9930	8	0.45353	T	0.12	.	.	.	.	.	374	Q9BSJ1	SPRY5_HUMAN	K	374;231	ENSP00000395086:E374K;ENSP00000244891:E231K	ENSP00000244891:E231K	E	+	1	0	SPRYD5	55415445	0.004000	0.15560	0.000000	0.03702	0.099000	0.18886	-0.044000	0.12023	-2.310000	0.00650	-1.597000	0.00832	GAG	TRIM51	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY	ENSG00000124900		0.443	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	309	0.00	0	G	NM_032681		55658869	55658869	+1	no_errors	ENST00000449290	ensembl	human	known	69_37n	missense	488	12.07	67	SNP	0.000	A
TRPM8	79054	genome.wustl.edu	37	2	234835246	234835246	+	Missense_Mutation	SNP	C	C	T	rs202194673		TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:234835246C>T	ENST00000324695.4	+	2	104	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	22					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGACAGCACCCGGACCCTGTA	0.512																																						dbGAP											0													128.0	114.0	119.0					2																	234835246		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.64C>T	2.37:g.234835246C>T	ENSP00000323926:p.Arg22Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R22W	ENST00000324695.4	37	c.64	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100517	0.76983	.	.	ENSG00000144481	ENST00000324695	T	0.61392	0.11	5.01	4.07	0.47477	.	0.000000	0.53938	D	0.000054	T	0.40670	0.1126	L	0.38175	1.15	0.80722	D	1	P	0.51537	0.946	B	0.36666	0.23	T	0.35748	-0.9776	10	0.38643	T	0.18	-26.4959	9.8726	0.41185	0.2037:0.7963:0.0:0.0	.	22	Q7Z2W7	TRPM8_HUMAN	W	22	ENSP00000323926:R22W	ENSP00000323926:R22W	R	+	1	2	TRPM8	234499985	0.563000	0.26594	0.991000	0.47740	0.996000	0.88848	1.611000	0.36879	2.339000	0.79563	0.561000	0.74099	CGG	TRPM8	-	NULL	ENSG00000144481		0.512	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	150	0.00	0	C	NM_024080		234835246	234835246	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	missense	157	11.30	20	SNP	0.944	T
TSSK1B	83942	genome.wustl.edu	37	5	112769486	112769486	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr5:112769486T>C	ENST00000390666.3	-	1	1242	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	351					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCTGTCTCCATAGTCGACGGC	0.622																																						dbGAP											0													36.0	41.0	39.0					5																	112769486		1901	4107	6008	-	-	-	SO:0001583	missense	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.1051A>G	5.37:g.112769486T>C	ENSP00000375081:p.Met351Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8D9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M351V	ENST00000390666.3	37	c.1051	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	T	1.079	-0.667602	0.03428	.	.	ENSG00000212122	ENST00000390666	T	0.66460	-0.21	0.9	-1.8	0.07907	.	4.003170	0.01809	U	0.033359	T	0.42988	0.1227	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.12760	-1.0535	10	0.30854	T	0.27	.	3.1165	0.06376	0.0:0.3309:0.0:0.6691	.	351	Q9BXA7	TSSK1_HUMAN	V	351	ENSP00000375081:M351V	ENSP00000375081:M351V	M	-	1	0	TSSK1B	112797385	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	-0.053000	0.11846	-0.797000	0.04450	-0.818000	0.03119	ATG	TSSK1B	-	NULL	ENSG00000212122		0.622	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	28	0.00	0	T	NM_032028		112769486	112769486	-1	no_errors	ENST00000390666	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.000	C
TTN	7273	genome.wustl.edu	37	2	179481483	179481483	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:179481483A>T	ENST00000591111.1	-	206	43434	c.43210T>A	c.(43210-43212)Tct>Act	p.S14404T	TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13477T|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S16045T|TTN_ENST00000359218.5_Missense_Mutation_p.S7105T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S6980T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7172T			Q8WZ42	TITIN_HUMAN	titin	14404					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCCCCAGAAATTGTTTTC	0.353																																						dbGAP											0													114.0	117.0	116.0					2																	179481483		1808	4075	5883	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43210T>A	2.37:g.179481483A>T	ENSP00000465570:p.Ser14404Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S13477T	ENST00000591111.1	37	c.40429		2	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024973	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.91	4.74	0.60224	Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54983	0.1892	L	0.42632	1.34	0.48087	D	0.999584	B;B;B;B	0.27166	0.17;0.17;0.17;0.17	B;B;B;B	0.26310	0.068;0.068;0.068;0.068	T	0.54931	-0.8219	9	0.87932	D	0	.	12.5619	0.56286	0.8754:0.0:0.0:0.1246	.	6980;7105;7172;14404	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13477;6980;7172;7105;6980	ENSP00000343764:S13477T;ENSP00000434586:S6980T;ENSP00000340554:S7172T;ENSP00000352154:S7105T	ENSP00000340554:S7172T	S	-	1	0	TTN	179189728	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.230000	0.65321	1.038000	0.40049	0.533000	0.62120	TCT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	437	0.00	0	A	NM_133378		179481483	179481483	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	358	15.37	65	SNP	1.000	T
TTYH2	94015	genome.wustl.edu	37	17	72249264	72249264	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr17:72249264C>A	ENST00000269346.4	+	12	1378	c.1304C>A	c.(1303-1305)cCc>cAc	p.P435H	TTYH2_ENST00000441391.2_Missense_Mutation_p.P114H|TTYH2_ENST00000529107.1_Missense_Mutation_p.P414H	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	435						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCCTTTAACCCCCAAGCCTGG	0.582																																						dbGAP											0													133.0	130.0	131.0					17																	72249264		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1304C>A	17.37:g.72249264C>A	ENSP00000269346:p.Pro435His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.P435H	ENST00000269346.4	37	c.1304	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359010	0.82353	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.26373	2.37;2.17;1.74	4.51	4.51	0.55191	.	0.117011	0.64402	D	0.000016	T	0.50548	0.1622	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.963;0.987	T	0.55842	-0.8077	10	0.87932	D	0	-41.7693	16.1501	0.81611	0.0:1.0:0.0:0.0	.	414;435	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	H	435;414;114	ENSP00000269346:P435H;ENSP00000433089:P414H;ENSP00000394576:P114H	ENSP00000269346:P435H	P	+	2	0	TTYH2	69760859	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.498000	0.66931	2.318000	0.78349	0.561000	0.74099	CCC	TTYH2	-	NULL	ENSG00000141540		0.582	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	95	0.00	0	C			72249264	72249264	+1	no_errors	ENST00000269346	ensembl	human	known	69_37n	missense	98	29.50	41	SNP	1.000	A
TUBA3D	113457	genome.wustl.edu	37	2	132237643	132237643	+	Splice_Site	SNP	C	C	T	rs72992288	byFrequency	TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:132237643C>T	ENST00000321253.6	+	4	484	c.377C>T	c.(376-378)gCg>gTg	p.A126V	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	126					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TTCTCTCAGGCGGATCTGTGC	0.572																																					Ovarian(137;2059 2432 35543 39401)	dbGAP											0													42.0	47.0	45.0					2																	132237643		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.376-1C>T	2.37:g.132237643C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.A126V	ENST00000321253.6	37	c.377	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	c	3.775	-0.046823	0.07407	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.66638	-0.22	2.24	1.33	0.21861	Tubulin/FtsZ, GTPase domain (4);	0.356468	0.19523	U	0.112234	T	0.54663	0.1872	L	0.41415	1.275	0.80722	D	1	B	0.26363	0.147	B	0.31191	0.125	T	0.51348	-0.8717	10	0.87932	D	0	.	6.8167	0.23835	0.0:0.8406:0.0:0.1594	.	126	Q13748	TBA3C_HUMAN	V	126	ENSP00000326042:A126V	ENSP00000326042:A126V	A	+	2	0	TUBA3D	131954113	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	4.780000	0.62382	0.267000	0.21916	0.194000	0.17425	GCG	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin	ENSG00000075886		0.572	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	22	0.00	0	C	NM_080386	Missense_Mutation	132237643	132237643	+1	no_errors	ENST00000321253	ensembl	human	known	69_37n	missense	43	28.33	17	SNP	1.000	T
UGT1A6	54578	genome.wustl.edu	37	2	234601870	234601870	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:234601870A>G	ENST00000305139.6	+	1	359	c.220A>G	c.(220-222)Aca>Gca	p.T74A	UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	74					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	CAAATACTACACAAGAAAAAT	0.408																																						dbGAP											0													97.0	97.0	97.0					2																	234601870		2203	4300	6503	-	-	-	SO:0001583	missense	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.220A>G	2.37:g.234601870A>G	ENSP00000303174:p.Thr74Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T74A	ENST00000305139.6	37	c.220	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	A	7.998	0.754788	0.15778	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.60424	0.19;0.19	5.17	3.99	0.46301	.	.	.	.	.	T	0.55321	0.1913	M	0.76838	2.35	0.51482	D	0.999927	B;B	0.18741	0.03;0.007	B;B	0.26770	0.064;0.073	T	0.49854	-0.8895	9	0.26408	T	0.33	.	7.1401	0.25552	0.7877:0.0:0.0723:0.14	.	74;74	B8K289;P19224	.;UD16_HUMAN	A	74	ENSP00000389637:T74A;ENSP00000303174:T74A	ENSP00000303174:T74A	T	+	1	0	UGT1A6	234266609	0.335000	0.24748	0.013000	0.15412	0.135000	0.20990	2.363000	0.44178	0.946000	0.37632	-0.438000	0.05819	ACA	UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.408	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	229	0.00	0	A	NM_205862		234601870	234601870	+1	no_errors	ENST00000305139	ensembl	human	known	69_37n	missense	186	12.26	26	SNP	0.409	G
WAS	7454	genome.wustl.edu	37	X	48542728	48542728	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:48542728C>G	ENST00000376701.4	+	2	264	c.189C>G	c.(187-189)caC>caG	p.H63Q	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	63	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GAGCTGAGCACTGGACCAAGG	0.612			"""Mis, N, F, S"""			lymphoma																																dbGAP		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0													95.0	71.0	79.0					X																	48542728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.189C>G	X.37:g.48542728C>G	ENSP00000365891:p.His63Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.H63Q	ENST00000376701.4	37	c.189	CCDS14303.1	X	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730207	0.15507	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.99470	-5.96;-5.96	4.73	4.73	0.59995	EVH1 (3);Pleckstrin homology-type (1);	0.663582	0.14970	N	0.287852	D	0.95567	0.8559	N	0.02539	-0.55	0.35864	D	0.827757	B	0.22346	0.068	B	0.12837	0.008	D	0.95979	0.8976	10	0.17369	T	0.5	-9.4045	10.291	0.43596	0.0:0.8036:0.1963:0.0	.	63	P42768	WASP_HUMAN	Q	63	ENSP00000410537:H63Q;ENSP00000365891:H63Q	ENSP00000365891:H63Q	H	+	3	2	WAS	48427672	0.214000	0.23563	0.999000	0.59377	0.974000	0.67602	0.661000	0.25023	1.928000	0.55862	0.287000	0.19450	CAC	WAS	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000015285		0.612	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	WAS	HGNC	protein_coding	OTTHUMT00000083379.1	22	0.00	0	C	NM_000377		48542728	48542728	+1	no_errors	ENST00000376701	ensembl	human	known	69_37n	missense	20	67.74	42	SNP	0.992	G
XIRP2	129446	genome.wustl.edu	37	2	168074694	168074694	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr2:168074694A>G	ENST00000409728.1	+	6	930	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	XIRP2_ENST00000295237.9_Missense_Mutation_p.M248V|XIRP2_ENST00000409605.1_Missense_Mutation_p.M26V|XIRP2_ENST00000409756.2_Missense_Mutation_p.M248V|XIRP2_ENST00000420519.1_Missense_Mutation_p.M281V|XIRP2_ENST00000409273.1_Missense_Mutation_p.M26V|XIRP2_ENST00000409043.1_Missense_Mutation_p.M248V|XIRP2_ENST00000409195.1_Missense_Mutation_p.M248V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	73	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATCAGAAATGTGCGCAGT	0.383																																						dbGAP											0													97.0	97.0	97.0					2																	168074694		1889	4112	6001	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.841A>G	2.37:g.168074694A>G	ENSP00000386619:p.Met281Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.M248V	ENST00000409728.1	37	c.742	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	A	2.470	-0.322112	0.05350	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;4.37;-0.98;-0.98;4.37;4.39;-0.96	5.8	3.42	0.39159	.	0.367741	0.30879	N	0.008693	T	0.52386	0.1731	L	0.33485	1.01	0.09310	N	0.999998	B;B;B;B;B	0.16166	0.0;0.013;0.016;0.0;0.0	B;B;B;B;B	0.13407	0.0;0.006;0.009;0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	-2.1127	3.0677	0.06220	0.5019:0.0:0.2156:0.2825	.	73;248;281;73;26	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	V	248;281;248;248;281;248;26;26	ENSP00000386454:M248V;ENSP00000386619:M281V;ENSP00000386840:M248V;ENSP00000386724:M248V;ENSP00000415541:M281V;ENSP00000295237:M248V;ENSP00000387255:M26V;ENSP00000386981:M26V	ENSP00000295237:M248V	M	+	1	0	XIRP2	167782940	0.776000	0.28616	0.987000	0.45799	0.995000	0.86356	1.161000	0.31773	0.462000	0.27095	0.514000	0.50259	ATG	XIRP2	-	NULL	ENSG00000163092		0.383	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	197	0.00	0	A	NM_152381		168074694	168074694	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	161	16.15	31	SNP	0.834	G
ZCCHC18	644353	genome.wustl.edu	37	X	103359682	103359682	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chrX:103359682G>C	ENST00000537356.3	+	2	2294	c.880G>C	c.(880-882)Gcc>Ccc	p.A294P	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	294							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										ACCTACAGGTGCCCCTCCCTT	0.498																																						dbGAP											0													64.0	48.0	53.0					X																	103359682		692	1591	2283	-	-	-	SO:0001583	missense	0			AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.880G>C	X.37:g.103359682G>C	ENSP00000473824:p.Ala294Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000537356.3	37	NULL		X																																																																																			ZCCHC18	-	-	ENSG00000166707		0.498	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	ZCCHC18	HGNC	protein_coding	OTTHUMT00000471686.1	56	0.00	0	G	NM_001143978		103359682	103359682	+1	no_errors	ENST00000537356	ensembl	human	known	69_37n	rna	54	22.86	16	SNP	0.000	C
ZZZ3	26009	genome.wustl.edu	37	1	78031328	78031328	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:78031328T>A	ENST00000370801.3	-	15	3184	c.2709A>T	c.(2707-2709)agA>agT	p.R903S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.R409S	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	903					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCCATGTCATCTGTTTGCTG	0.393																																						dbGAP											0													178.0	150.0	160.0					1																	78031328		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2709A>T	1.37:g.78031328T>A	ENSP00000359837:p.Arg903Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.R903S	ENST00000370801.3	37	c.2709	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979988	0.74360	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.989;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.73594	-0.3933	9	0.87932	D	0	.	15.6811	0.77371	0.0:0.0:0.0:1.0	.	409;903;902	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	903;409	.	ENSP00000359834:R409S	R	-	3	2	ZZZ3	77803916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.249000	0.72427	2.247000	0.74100	0.482000	0.46254	AGA	ZZZ3	-	NULL	ENSG00000036549		0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	72	0.00	0	T	NM_015534		78031328	78031328	-1	no_errors	ENST00000370801	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	1.000	A
ZNF644	84146	genome.wustl.edu	37	1	91406699	91406699	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09Q-01A-11W-A019-09	TCGA-A8-A09Q-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	51a8ac83-bafa-4df7-a52d-a1e1fb45799d	c8f39b5b-9f03-44d5-99c4-23d0090e45d2	g.chr1:91406699G>A	ENST00000370440.1	-	3	429	c.212C>T	c.(211-213)aCg>aTg	p.T71M	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T71M|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CAGAGTCAACGTATTATTTTT	0.388																																						dbGAP											0													158.0	151.0	153.0					1																	91406699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.212C>T	1.37:g.91406699G>A	ENSP00000359469:p.Thr71Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T71M	ENST00000370440.1	37	c.212	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304969	0.23736	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00616	6.2;6.2	5.91	5.0	0.66597	.	0.277101	0.32287	N	0.006316	T	0.00356	0.0011	N	0.24115	0.695	0.33100	D	0.539134	P	0.47677	0.899	B	0.40565	0.333	T	0.68659	-0.5350	10	0.87932	D	0	-0.5362	16.6192	0.84925	0.0:0.0:0.8689:0.1311	.	71	Q9H582	ZN644_HUMAN	M	71	ENSP00000359469:T71M;ENSP00000337008:T71M	ENSP00000337008:T71M	T	-	2	0	ZNF644	91179287	0.592000	0.26832	0.020000	0.16555	0.768000	0.43524	3.183000	0.50918	1.504000	0.48704	-0.152000	0.13540	ACG	ZNF644	-	NULL	ENSG00000122482		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	181	0.00	0	G	NM_032186		91406699	91406699	-1	no_errors	ENST00000337393	ensembl	human	known	69_37n	missense	135	31.47	62	SNP	0.964	A
