#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
ABCA13	154664	genome.wustl.edu	37	7	48335359	48335359	+	Silent	SNP	T	T	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr7:48335359T>G	ENST00000435803.1	+	21	9042	c.9018T>G	c.(9016-9018)ctT>ctG	p.L3006L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3006					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L3006L(1)|p.L2951L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAAGAATCTTTCTAGCACCT	0.463																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											138.0	141.0	140.0					7																	48335359		1900	4120	6020	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9018T>G	7.37:g.48335359T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L3006	ENST00000435803.1	37	c.9018	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	154	0.00	0	T	NM_152701		48335359	48335359	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	silent	61	36.46	35	SNP	0.100	G
ABCE1	6059	genome.wustl.edu	37	4	146042543	146042544	+	Splice_Site	INS	-	-	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr4:146042543_146042544insA	ENST00000296577.4	+	13	1778	c.1263_1263insA	c.(1264-1266)gga>ggAa	p.G422fs	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CCAAATCAACTGTGAGTTATTA	0.277																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1263+1->A	4.37:g.146042543_146042544insA		Somatic		WXS	Illumina GAIIx	Phase_IV	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.G421fs	ENST00000296577.4	37	c.1263_1264	CCDS34071.1	4																																																																																			ABCE1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000164163		0.277	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	67	0.00	0	-	NM_002940	Frame_Shift_Ins	146042543	146042544	+1	no_errors	ENST00000296577	ensembl	human	known	69_37n	frame_shift_ins	111	10.48	13	INS	0.977:1.000	A
ACVR2A	92	genome.wustl.edu	37	2	148676122	148676122	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr2:148676122C>G	ENST00000241416.7	+	7	1559	c.923C>G	c.(922-924)cCt>cGt	p.P308R	ACVR2A_ENST00000535787.1_Missense_Mutation_p.P200R|ACVR2A_ENST00000404590.1_Missense_Mutation_p.P308R	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.P308R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GAGGATATACCTGGCCTAAAA	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	65.0	65.0					2																	148676122		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.923C>G	2.37:g.148676122C>G	ENSP00000241416:p.Pro308Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.P308R	ENST00000241416.7	37	c.923	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084055	0.76642	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93133	-3.17;-3.17;-3.17	5.63	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.95424	0.8510	10	0.62326	D	0.03	.	14.289	0.66265	0.0:0.9286:0.0:0.0714	.	308	P27037	AVR2A_HUMAN	R	308;200;308	ENSP00000241416:P308R;ENSP00000439988:P200R;ENSP00000384338:P308R	ENSP00000241416:P308R	P	+	2	0	ACVR2A	148392592	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.089000	0.71384	1.382000	0.46385	0.563000	0.77884	CCT	ACVR2A	-	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	ENSG00000121989		0.363	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	33	0.00	0	C	NM_001616		148676122	148676122	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	1.000	G
ADAMDEC1	27299	genome.wustl.edu	37	8	24249788	24249788	+	Silent	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr8:24249788G>A	ENST00000256412.4	+	2	322	c.102G>A	c.(100-102)aaG>aaA	p.K34K	ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Intron	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	34					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K34K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TAGCCATAAAGCAAACACCTG	0.333																																					Ovarian(147;687 1849 3699 25981 31337)	dbGAP											1	Substitution - coding silent(1)	breast(1)											82.0	80.0	81.0					8																	24249788		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.102G>A	8.37:g.24249788G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAK5	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K34	ENST00000256412.4	37	c.102	CCDS6044.1	8																																																																																			ADAMDEC1	-	NULL	ENSG00000134028		0.333	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	65	0.00	0	G	NM_014479		24249788	24249788	+1	no_errors	ENST00000256412	ensembl	human	known	69_37n	silent	57	13.64	9	SNP	0.000	A
ADCY8	114	genome.wustl.edu	37	8	131922104	131922104	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr8:131922104C>A	ENST00000286355.5	-	6	3582	c.1490G>T	c.(1489-1491)cGg>cTg	p.R497L	ADCY8_ENST00000377928.3_Missense_Mutation_p.R497L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	497					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R497L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTCCTTGACCGCACATACCT	0.453										HNSCC(32;0.087)																												dbGAP											1	Substitution - Missense(1)	breast(1)											166.0	127.0	140.0					8																	131922104		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1490G>T	8.37:g.131922104C>A	ENSP00000286355:p.Arg497Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R497L	ENST00000286355.5	37	c.1490	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.742585	0.96873	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.84873	-1.91;-1.91;-1.91	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.84082	2.675	0.48236	D	0.999617	D;D	0.89917	0.991;1.0	D;D	0.85130	0.968;0.997	D	0.93524	0.6864	10	0.87932	D	0	.	19.0419	0.93004	0.0:1.0:0.0:0.0	.	497;497	E7EVL1;P40145	.;ADCY8_HUMAN	L	497;497;112	ENSP00000286355:R497L;ENSP00000367161:R497L;ENSP00000428010:R112L	ENSP00000286355:R497L	R	-	2	0	ADCY8	131991286	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	CGG	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000155897		0.453	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	169	0.00	0	C			131922104	131922104	-1	no_errors	ENST00000286355	ensembl	human	known	69_37n	missense	198	24.14	63	SNP	0.999	A
ARHGAP28	79822	genome.wustl.edu	37	18	6890538	6890538	+	Missense_Mutation	SNP	G	G	A	rs74414891	byFrequency	TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr18:6890538G>A	ENST00000383472.4	+	14	1948	c.1844G>A	c.(1843-1845)cGg>cAg	p.R615Q	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R615Q|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.R456Q|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R456Q|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R438Q|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R563Q|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R451Q|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R456Q			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	615					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACCCTCGAGCGGGAGGTAAGA	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19259	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													58.0	61.0	60.0					18																	6890538		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1844G>A	18.37:g.6890538G>A	ENSP00000372964:p.Arg615Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R615Q	ENST00000383472.4	37	c.1844		18	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.75	3.691137	0.68271	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.09630	3.16;3.12;3.04;3.05;3.04;2.96	5.08	5.08	0.68730	.	0.254470	0.39759	N	0.001276	T	0.35278	0.0926	M	0.77313	2.365	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.73708	0.961;0.946;0.967;0.981	T	0.03695	-1.1012	10	0.56958	D	0.05	.	17.7686	0.88485	0.0:0.0:1.0:0.0	.	615;447;456;563	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	Q	615;563;456;451;456;456;447;438	ENSP00000382963:R615Q;ENSP00000262227:R563Q;ENSP00000392660:R456Q;ENSP00000437262:R451Q;ENSP00000313506:R456Q;ENSP00000406907:R456Q	ENSP00000262227:R563Q	R	+	2	0	ARHGAP28	6880538	1.000000	0.71417	0.998000	0.56505	0.045000	0.14185	3.704000	0.54815	2.793000	0.96121	0.655000	0.94253	CGG	ARHGAP28	-	NULL	ENSG00000088756		0.473	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	212	0.00	0	G	XM_371108		6890538	6890538	+1	no_errors	ENST00000400091	ensembl	human	known	69_37n	missense	116	14.07	19	SNP	1.000	A
BAI1	575	genome.wustl.edu	37	8	143558834	143558835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr8:143558834_143558835insC	ENST00000517894.1	+	6	2205_2206	c.1311_1312insC	c.(1312-1314)cccfs	p.P438fs	BAI1_ENST00000323289.5_Frame_Shift_Ins_p.P438fs			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	438	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCACCTGCAGGCCCCCCCAGTT	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1318dupC	8.37:g.143558841_143558841dupC	ENSP00000430945:p.Pro438fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.Q439fs	ENST00000517894.1	37	c.1311_1312		8																																																																																			BAI1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000181790		0.653	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	11	0.00	0	-	NM_001702		143558834	143558835	+1	no_errors	ENST00000323289	ensembl	human	known	69_37n	frame_shift_ins	52	26.76	19	INS	0.955:1.000	C
PHF7	51533	genome.wustl.edu	37	3	52442600	52442600	+	5'Flank	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:52442600G>C	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Missense_Mutation_p.L49V|BAP1_ENST00000296288.5_Missense_Mutation_p.L49V	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.L49V(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CATTTGAACAGGAAGATAAAT	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	34.0	34.0					3																	52442600		2203	4299	6502	-	-	-	SO:0001631	upstream_gene_variant	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442600G>C	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	K4DI82	Missense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.L49V	ENST00000327906.3	37	c.145	CCDS2854.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164508	0.78339	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.61859	0.07;0.07	5.43	3.63	0.41609	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.64402	D	0.000001	D	0.82462	0.5042	H	0.97023	3.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85958	0.1468	10	0.87932	D	0	-2.3505	11.8105	0.52179	0.143:0.0:0.857:0.0	.	49	Q92560	BAP1_HUMAN	V	49	ENSP00000417132:L49V;ENSP00000296288:L49V	ENSP00000296288:L49V	L	-	1	2	BAP1	52417640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.538000	0.53597	0.668000	0.31126	-0.140000	0.14226	CTG	BAP1	-	pfam_Peptidase_C12	ENSG00000163930		0.473	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000351155.1	24	0.00	0	G	NM_016483		52442600	52442600	-1	no_errors	ENST00000460680	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	C
C19orf54	284325	genome.wustl.edu	37	19	41248631	41248631	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr19:41248631C>T	ENST00000378313.2	-	6	882	c.763G>A	c.(763-765)Gag>Aag	p.E255K	C19orf54_ENST00000339153.3_Missense_Mutation_p.E83K|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598729.1_Missense_Mutation_p.E83K|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000594163.1_5'Flank	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	255								p.L113L(1)|p.E255K(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGGGTCCTCAGTGTAGCCG	0.672																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	breast(2)											24.0	24.0	24.0					19																	41248631		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.763G>A	19.37:g.41248631C>T	ENSP00000367564:p.Glu255Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSZ5|B4DNU7	Missense_Mutation	SNP	NULL	p.E255K	ENST00000378313.2	37	c.763	CCDS12564.2	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052329	0.75960	.	.	ENSG00000188493	ENST00000378313;ENST00000339153	.	.	.	5.24	5.24	0.73138	.	0.194559	0.44285	D	0.000470	T	0.66733	0.2819	L	0.61036	1.89	0.33536	D	0.594246	D;P	0.69078	0.997;0.898	D;P	0.64506	0.926;0.547	T	0.74965	-0.3484	9	0.48119	T	0.1	-27.3878	13.6708	0.62424	0.0:0.8446:0.1554:0.0	.	83;255	Q5BKX5-3;Q5BKX5	.;CS054_HUMAN	K	255;83	.	ENSP00000341122:E83K	E	-	1	0	C19orf54	45940471	0.988000	0.35896	0.976000	0.42696	0.503000	0.33858	3.064000	0.49986	2.617000	0.88574	0.563000	0.77884	GAG	C19orf54	-	NULL	ENSG00000188493		0.672	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf54	HGNC	protein_coding	OTTHUMT00000316701.1	61	0.00	0	C	NM_198476		41248631	41248631	-1	no_errors	ENST00000378313	ensembl	human	known	69_37n	missense	55	25.68	19	SNP	0.985	T
C1orf101	257044	genome.wustl.edu	37	1	244735979	244735979	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:244735979C>G	ENST00000366534.4	+	11	1909	c.1855C>G	c.(1855-1857)Ctg>Gtg	p.L619V	C1orf101_ENST00000366531.3_Missense_Mutation_p.L468V|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.L619V	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	619						CatSper complex (GO:0036128)		p.L619V(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAACACTGGTCTGTATGTTAT	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											62.0	60.0	61.0					1																	244735979		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1855C>G	1.37:g.244735979C>G	ENSP00000355492:p.Leu619Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.L619V	ENST00000366534.4	37	c.1855	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047852	0.36085	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.06	-0.433	0.12287	.	0.155674	0.29624	N	0.011633	T	0.42921	0.1224	L	0.61218	1.895	0.09310	N	1	D;P;D;D	0.76494	0.999;0.946;0.995;0.999	D;P;P;D	0.83275	0.994;0.509;0.799;0.996	T	0.18241	-1.0343	10	0.56958	D	0.05	.	4.399	0.11377	0.0:0.4057:0.3177:0.2766	.	539;619;619;468	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	V	619;619;619;539;468	ENSP00000355492:L619V;ENSP00000355491:L619V;ENSP00000395796:L539V;ENSP00000355489:L468V	ENSP00000355489:L468V	L	+	1	2	C1orf101	242802602	0.001000	0.12720	0.012000	0.15200	0.020000	0.10135	-0.311000	0.08124	-0.028000	0.13850	0.557000	0.71058	CTG	C1orf101	-	NULL	ENSG00000179397		0.398	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	26	0.00	0	C	NM_173807		244735979	244735979	+1	no_errors	ENST00000366534	ensembl	human	known	69_37n	missense	65	16.67	13	SNP	0.078	G
CELA1	1990	genome.wustl.edu	37	12	51736377	51736377	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr12:51736377C>T	ENST00000293636.1	-	4	348	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGTTATCGCTGTTCCAGTA	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											180.0	138.0	152.0					12																	51736377		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.308G>A	12.37:g.51736377C>T	ENSP00000293636:p.Ser103Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5MLF0|Q6DJT0|Q6ISM6	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S103N	ENST00000293636.1	37	c.308	CCDS8812.1	12	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092424	0.36952	.	.	ENSG00000139610	ENST00000293636	D	0.89415	-2.51	5.15	0.291	0.15732	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.603481	0.19144	N	0.121615	D	0.83198	0.5202	N	0.21373	0.66	0.24793	N	0.992745	B	0.26602	0.154	B	0.38755	0.281	T	0.74601	-0.3611	10	0.41790	T	0.15	-9.9704	11.5656	0.50802	0.0:0.5219:0.4024:0.0757	.	103	Q9UNI1	CELA1_HUMAN	N	103	ENSP00000293636:S103N	ENSP00000293636:S103N	S	-	2	0	CELA1	50022644	0.002000	0.14202	0.868000	0.34077	0.856000	0.48823	-0.603000	0.05674	0.212000	0.20703	0.561000	0.74099	AGC	CELA1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000139610		0.572	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA1	HGNC	protein_coding	OTTHUMT00000394901.1	121	0.00	0	C	NM_001971		51736377	51736377	-1	no_errors	ENST00000293636	ensembl	human	known	69_37n	missense	79	18.56	18	SNP	0.961	T
CELF6	60677	genome.wustl.edu	37	15	72608235	72608235	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr15:72608235G>C	ENST00000569547.1	-	2	367	c.296C>G	c.(295-297)tCt>tGt	p.S99C	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000287202.5_Missense_Mutation_p.S99C|CELF6_ENST00000567083.1_Missense_Mutation_p.S99C			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	99	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S99C(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTGAGAGCAGAGTCCCGGGC	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											36.0	36.0	36.0					15																	72608235		2199	4297	6496	-	-	-	SO:0001583	missense	0			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.296C>G	15.37:g.72608235G>C	ENSP00000454749:p.Ser99Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S99C	ENST00000569547.1	37	c.296	CCDS10242.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.075660	0.94000	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T;T	0.39056	1.1;1.37	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.42548	U	0.000693	T	0.61874	0.2382	L	0.49513	1.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.61272	-0.7096	10	0.87932	D	0	-9.6417	18.957	0.92662	0.0:0.0:1.0:0.0	.	99;99	B4DJB6;Q96J87	.;CELF6_HUMAN	C	99	ENSP00000287202:S99C;ENSP00000400439:S99C	ENSP00000287202:S99C	S	-	2	0	CELF6	70395289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.824000	0.97209	0.655000	0.94253	TCT	CELF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000140488		0.607	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	HGNC	protein_coding	OTTHUMT00000420180.1	75	0.00	0	G	NM_052840		72608235	72608235	-1	no_errors	ENST00000569547	ensembl	human	known	69_37n	missense	107	12.30	15	SNP	1.000	C
CHRNA10	57053	genome.wustl.edu	37	11	3687755	3687755	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr11:3687755G>C	ENST00000250699.2	-	5	1006	c.935C>G	c.(934-936)tCa>tGa	p.S312*	Y_RNA_ENST00000363331.1_RNA|Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_3'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	312					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)	p.S312*(1)		breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GAGTGCTGTTGAGAATGTGAC	0.537																																					Melanoma(153;17 1869 2949 7120 36888)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											91.0	90.0	90.0					11																	3687755		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.935C>G	11.37:g.3687755G>C	ENSP00000250699:p.Ser312*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S312*	ENST00000250699.2	37	c.935	CCDS7745.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.324068	0.95708	.	.	ENSG00000129749	ENST00000250699	.	.	.	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1987	0.89831	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000250699:S312X	S	-	2	0	CHRNA10	3644331	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	9.397000	0.97276	2.634000	0.89283	0.561000	0.74099	TCA	CHRNA10	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000129749		0.537	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA10	HGNC	protein_coding	OTTHUMT00000032763.2	131	0.00	0	G			3687755	3687755	-1	no_errors	ENST00000250699	ensembl	human	known	69_37n	nonsense	69	15.85	13	SNP	1.000	C
COBL	23242	genome.wustl.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G	rs368613191		TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr7:51287561_51287562insG	ENST00000265136.7	-	2	286_287	c.121_122insC	c.(121-123)cacfs	p.H41fs	COBL_ENST00000441453.1_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395542.2_Frame_Shift_Ins_p.H41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.H41fs	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604																																					NSCLC(189;2119 2138 12223 30818 34679)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.122dupC	7.37:g.51287568_51287568dupG	ENSP00000265136:p.His41fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Frame_Shift_Ins	INS	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.H41fs	ENST00000265136.7	37	c.122_121	CCDS34637.1	7																																																																																			COBL	-	pfam_Cordon-bleu_domain	ENSG00000106078		0.604	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	23	0.00	0	-	NM_015198		51287561	51287562	-1	no_errors	ENST00000395542	ensembl	human	known	69_37n	frame_shift_ins	25	13.79	4	INS	0.000:0.000	G
COPG2	26958	genome.wustl.edu	37	7	130347816	130347816	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr7:130347816T>G	ENST00000445977.2	-	4	323	c.234A>C	c.(232-234)caA>caC	p.Q78H				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	78					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)	p.Q78H(1)		large_intestine(1)	1	Melanoma(18;0.0435)					CATCATTAGATTGAAACAATC	0.308																																						dbGAP											1	Substitution - Missense(1)	breast(1)											29.0	29.0	29.0					7																	130347816		1788	4026	5814	-	-	-	SO:0001583	missense	0			AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.234A>C	7.37:g.130347816T>G	ENSP00000393912:p.Gln78His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold	p.Q78H	ENST00000445977.2	37	c.234		7	.	.	.	.	.	.	.	.	.	.	T	19.96	3.922683	0.73213	.	.	ENSG00000158623	ENST00000445977;ENST00000330992	T;T	0.27890	1.64;1.64	5.7	-5.1	0.02911	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.56046	0.1959	M	0.86028	2.79	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.66567	-0.5891	10	0.72032	D	0.01	.	19.1492	0.93481	0.0:0.8507:0.0:0.1493	.	78	Q9UBF2	COPG2_HUMAN	H	78	ENSP00000393912:Q78H;ENSP00000331218:Q78H	ENSP00000331218:Q78H	Q	-	3	2	COPG2	129998356	0.950000	0.32346	0.945000	0.38365	0.987000	0.75469	0.038000	0.13862	-1.086000	0.03084	-0.462000	0.05337	CAA	COPG2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold	ENSG00000158623		0.308	COPG2-201	KNOWN	basic|appris_principal	protein_coding	COPG2	HGNC	protein_coding		168	0.00	0	T	NM_012133		130347816	130347816	-1	no_errors	ENST00000445977	ensembl	human	known	69_37n	missense	132	13.16	20	SNP	0.998	G
DAPK3	1613	genome.wustl.edu	37	19	3964285	3964285	+	Silent	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr19:3964285C>T	ENST00000545797.2	-	4	753	c.510G>A	c.(508-510)gcG>gcA	p.A170A	DAPK3_ENST00000301264.3_Silent_p.A170A|MIR637_ENST00000385000.1_RNA			O43293	DAPK3_HUMAN	death-associated protein kinase 3	170	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.A170A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCGTTCCCCGCCTCGATCT	0.632																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											182.0	119.0	140.0					19																	3964285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.510G>A	19.37:g.3964285C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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.A170	ENST00000545797.2	37	c.510	CCDS12116.1	19																																																																																			DAPK3	-	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	ENSG00000167657		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	128	0.78	1	C	NM_001348		3964285	3964285	-1	no_errors	ENST00000301264	ensembl	human	known	69_37n	silent	88	15.38	16	SNP	0.008	T
DNAJB7	150353	genome.wustl.edu	37	22	41257265	41257265	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr22:41257265T>C	ENST00000307221.4	-	1	865	c.734A>G	c.(733-735)aAc>aGc	p.N245S	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	245							chaperone binding (GO:0051087)	p.N245S(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TGAATAGTTGTTGAATGACTG	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											134.0	127.0	129.0					22																	41257265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.734A>G	22.37:g.41257265T>C	ENSP00000307197:p.Asn245Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_ConA-like_lec_gl,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.N245S	ENST00000307221.4	37	c.734	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.467139	0.00169	.	.	ENSG00000172404	ENST00000307221	T	0.35973	1.28	4.26	0.813	0.18749	.	1.470620	0.04502	N	0.381400	T	0.28034	0.0691	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.15292	-1.0442	10	0.08599	T	0.76	.	3.3253	0.07064	0.0:0.2354:0.2086:0.556	.	245	Q7Z6W7	DNJB7_HUMAN	S	245	ENSP00000307197:N245S	ENSP00000307197:N245S	N	-	2	0	DNAJB7	39587211	0.032000	0.19561	0.000000	0.03702	0.046000	0.14306	0.504000	0.22626	0.084000	0.17077	0.402000	0.26972	AAC	DNAJB7	-	NULL	ENSG00000172404		0.398	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1	211	0.00	0	T	NM_145174		41257265	41257265	-1	no_errors	ENST00000307221	ensembl	human	known	69_37n	missense	164	12.77	24	SNP	0.000	C
DOCK3	1795	genome.wustl.edu	37	3	50816143	50816143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:50816143delG	ENST00000266037.9	+	2	98	c.75delG	c.(73-75)ttgfs	p.L25fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	25	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V15fs*2(1)|p.V26fs*2(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCAAGGGTTGGTCTTAGAAA	0.378																																						dbGAP											2	Deletion - Frameshift(2)	breast(2)											125.0	110.0	115.0					3																	50816143		1849	4087	5936	-	-	-	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.75delG	3.37:g.50816143delG	ENSP00000266037:p.Leu25fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15017	Frame_Shift_Del	DEL	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.V26fs	ENST00000266037.9	37	c.75	CCDS46835.1	3																																																																																			DOCK3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000088538		0.378	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	314	0.00	0	G	NM_004947		50816143	50816143	+1	no_errors	ENST00000266037	ensembl	human	known	69_37n	frame_shift_del	237	26.22	86	DEL	1.000	-
DYRK1A	1859	genome.wustl.edu	37	21	38850492	38850492	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr21:38850492G>C	ENST00000398960.2	+	3	292	c.217G>C	c.(217-219)Gat>Cat	p.D73H	DYRK1A_ENST00000321219.8_Missense_Mutation_p.D73H|DYRK1A_ENST00000462274.1_Intron|DYRK1A_ENST00000339659.4_Intron|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D73H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.D73H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D73H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	73					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.D73H(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGTGATGCCTGATATTGTCAT	0.398																																					Melanoma(114;464 1602 31203 43785 45765)	dbGAP											1	Substitution - Missense(1)	breast(1)											126.0	130.0	129.0					21																	38850492		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.217G>C	21.37:g.38850492G>C	ENSP00000381932:p.Asp73His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D73H	ENST00000398960.2	37	c.217	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347303	0.41599	.	.	ENSG00000157540	ENST00000338785;ENST00000426672;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.58358	0.42;0.58;0.43;0.42;0.34;0.43	5.7	5.7	0.88788	.	0.455403	0.18471	U	0.140210	T	0.47414	0.1444	L	0.49778	1.585	0.80722	D	1	B;B;P;B	0.36909	0.12;0.0;0.573;0.0	B;B;B;B	0.41691	0.035;0.0;0.364;0.0	T	0.55885	-0.8070	10	0.87932	D	0	.	3.7141	0.08431	0.1105:0.1538:0.5761:0.1596	.	73;73;73;73	Q13627-3;Q13627-4;Q13627;Q13627-5	.;.;DYR1A_HUMAN;.	H	73	ENSP00000342690:D73H;ENSP00000412269:D73H;ENSP00000319032:D73H;ENSP00000416089:D73H;ENSP00000381932:D73H;ENSP00000381929:D73H	ENSP00000319032:D73H	D	+	1	0	DYRK1A	37772362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.350000	0.34010	2.686000	0.91538	0.591000	0.81541	GAT	DYRK1A	-	NULL	ENSG00000157540		0.398	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	116	0.00	0	G	NM_001396		38850492	38850492	+1	no_errors	ENST00000398960	ensembl	human	known	69_37n	missense	173	19.91	43	SNP	0.998	C
DSCAM	1826	genome.wustl.edu	37	21	41719830	41719830	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr21:41719830C>A	ENST00000400454.1	-	6	1454	c.977G>T	c.(976-978)aGc>aTc	p.S326I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	326	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S326I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTACCCACGCTGCTTTTAAC	0.463																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											1	Substitution - Missense(1)	breast(1)											78.0	72.0	74.0					21																	41719830		1943	4156	6099	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.977G>T	21.37:g.41719830C>A	ENSP00000383303:p.Ser326Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S326I	ENST00000400454.1	37	c.977	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364768	0.82463	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69306	-0.39;-0.39	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088331	0.85682	D	0.000000	T	0.77765	0.4179	L	0.52126	1.63	0.50039	D	0.999845	D	0.69078	0.997	D	0.67382	0.951	T	0.74677	-0.3585	10	0.35671	T	0.21	.	19.5699	0.95407	0.0:1.0:0.0:0.0	.	326	O60469	DSCAM_HUMAN	I	326;78	ENSP00000383303:S326I;ENSP00000385342:S78I	ENSP00000383303:S326I	S	-	2	0	DSCAM	40641700	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.904000	0.69886	2.613000	0.88420	0.655000	0.94253	AGC	DSCAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000171587		0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	76	0.00	0	C	NM_001389		41719830	41719830	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	195	14.04	32	SNP	1.000	A
E2F8	79733	genome.wustl.edu	37	11	19251216	19251216	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr11:19251216C>T	ENST00000527884.1	-	10	1910	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.D560N	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	560					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D560N(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGTGGCATCTGTGGAGTCT	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											118.0	111.0	114.0					11																	19251216		2199	4293	6492	-	-	-	SO:0001583	missense	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1678G>A	11.37:g.19251216C>T	ENSP00000434199:p.Asp560Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.D560N	ENST00000527884.1	37	c.1678	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657934	0.29425	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.18016	2.24;2.24	5.53	4.62	0.57501	.	0.709567	0.13581	N	0.377356	T	0.20414	0.0491	M	0.68317	2.08	0.09310	N	1	P	0.34462	0.454	B	0.32677	0.15	T	0.09422	-1.0675	10	0.46703	T	0.11	-9.0801	11.4026	0.49878	0.0:0.9137:0.0:0.0863	.	560	A0AVK6	E2F8_HUMAN	N	560	ENSP00000434199:D560N;ENSP00000250024:D560N	ENSP00000250024:D560N	D	-	1	0	E2F8	19207792	0.002000	0.14202	0.173000	0.22940	0.560000	0.35617	0.819000	0.27308	2.605000	0.88082	0.655000	0.94253	GAT	E2F8	-	NULL	ENSG00000129173		0.582	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	81	0.00	0	C	NM_024680		19251216	19251216	-1	no_errors	ENST00000250024	ensembl	human	known	69_37n	missense	81	11.96	11	SNP	0.121	T
COL26A1	136227	genome.wustl.edu	37	7	101090994	101090994	+	RNA	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr7:101090994G>C	ENST00000397927.3	+	0	524				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R104T(1)									CCCACCTACAGAGTGTCCTAC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											48.0	48.0	48.0					7																	101090994		2070	4208	6278	-	-	-			0			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101090994G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32M90	Missense_Mutation	SNP	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.R104T	ENST00000397927.3	37	c.311		7	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397690	0.62177	.	.	ENSG00000160963	ENST00000313669	T	0.54479	0.57	4.81	2.61	0.31194	EMI domain (2);	0.396796	0.18109	U	0.151419	T	0.49525	0.1562	L	0.47716	1.5	0.21604	N	0.999629	P;P	0.47545	0.897;0.897	P;P	0.48488	0.579;0.579	T	0.39881	-0.9592	10	0.72032	D	0.01	.	7.1531	0.25622	0.3129:0.0:0.6871:0.0	.	104;104	Q96A83;C9JPW4	EMID2_HUMAN;.	T	104	ENSP00000318234:R104T	ENSP00000318234:R104T	R	+	2	0	EMID2	100877714	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.937000	0.48979	1.010000	0.39314	0.561000	0.74099	AGA	EMID2	-	pfam_EMI_domain,pfscan_EMI_domain	ENSG00000160963		0.597	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	EMID2	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	104	0.00	0	G	NM_133457		101090994	101090994	+1	no_errors	ENST00000313669	ensembl	human	known	69_37n	missense	68	26.88	25	SNP	1.000	C
EPB41L1	2036	genome.wustl.edu	37	20	34763629	34763629	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr20:34763629G>A	ENST00000338074.2	+	3	495	c.334G>A	c.(334-336)Gag>Aag	p.E112K	EPB41L1_ENST00000373946.3_Missense_Mutation_p.E81K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E50K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E112K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E50K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E50K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	112	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.E112K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GTATGAGTGTGAGGTGGAGGT	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	121.0	130.0					20																	34763629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.334G>A	20.37:g.34763629G>A	ENSP00000337168:p.Glu112Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E112K	ENST00000338074.2	37	c.334	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.751156	0.96890	.	.	ENSG00000088367	ENST00000202028;ENST00000406771;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000452261;ENST00000397307;ENST00000447825;ENST00000441639;ENST00000373946;ENST00000373945;ENST00000338074;ENST00000373941	T;T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-0.62;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.8	5.8	0.92144	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.84692	0.5528	L	0.53617	1.68	0.58432	D	0.999992	P;D;P;P;D;P;D	0.63046	0.888;0.992;0.942;0.867;0.988;0.948;0.973	P;P;P;P;P;P;P	0.61003	0.593;0.882;0.593;0.563;0.736;0.533;0.719	D	0.84750	0.0756	9	0.56958	D	0.05	.	18.6269	0.91344	0.0:0.0:1.0:0.0	.	112;112;112;81;50;50;50	B7Z653;Q9H4G0;Q4VXN5;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.;.	K	50;112;50;50;112;50;112;50;112;50;81;50;112;112	ENSP00000202028:E50K;ENSP00000385244:E112K;ENSP00000404341:E50K;ENSP00000363061:E50K;ENSP00000413262:E112K;ENSP00000399214:E50K;ENSP00000363057:E81K;ENSP00000363056:E50K;ENSP00000337168:E112K;ENSP00000363052:E112K	ENSP00000202028:E50K	E	+	1	0	EPB41L1	34227043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	2.735000	0.93741	0.655000	0.94253	GAG	EPB41L1	-	pfam_FERM_N,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Ez/rad/moesin	ENSG00000088367		0.597	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	222	0.00	0	G	NM_012156		34763629	34763629	+1	no_errors	ENST00000338074	ensembl	human	known	69_37n	missense	148	23.71	46	SNP	1.000	A
EVC2	132884	genome.wustl.edu	37	4	5564815	5564815	+	Silent	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr4:5564815G>C	ENST00000344408.5	-	22	3740	c.3687C>G	c.(3685-3687)ctC>ctG	p.L1229L	EVC2_ENST00000310917.2_Silent_p.L1149L|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1229					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L1229L(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCTCTCTCTGAGAGGGAGAC	0.448																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											112.0	118.0	116.0					4																	5564815		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3687C>G	4.37:g.5564815G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	pfam_EVC2-like	p.L1229	ENST00000344408.5	37	c.3687	CCDS3382.2	4																																																																																			EVC2	-	NULL	ENSG00000173040		0.448	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	144	0.00	0	G	NM_147127		5564815	5564815	-1	no_errors	ENST00000344408	ensembl	human	known	69_37n	silent	110	29.49	46	SNP	0.120	C
EYS	346007	genome.wustl.edu	37	6	65301291	65301291	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:65301291G>A	ENST00000370621.3	-	26	4995	c.4469C>T	c.(4468-4470)tCg>tTg	p.S1490L	EYS_ENST00000370616.2_Missense_Mutation_p.S1490L|EYS_ENST00000503581.1_Missense_Mutation_p.S1490L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1490					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1490L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGGAGACATCGAGGGGCTGAG	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											37.0	35.0	36.0					6																	65301291		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4469C>T	6.37:g.65301291G>A	ENSP00000359655:p.Ser1490Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1490L	ENST00000370621.3	37	c.4469		6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831623	0.32329	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84223	-1.82;-1.8;-1.8	5.84	4.03	0.46877	.	.	.	.	.	T	0.54208	0.1844	N	0.08118	0	0.43652	D	0.996069	P;P	0.50272	0.933;0.74	B;B	0.37267	0.245;0.075	T	0.64411	-0.6414	9	0.72032	D	0.01	.	9.7995	0.40755	0.074:0.1397:0.7863:0.0	.	1490;1490	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	L	1490	ENSP00000424243:S1490L;ENSP00000359655:S1490L;ENSP00000359650:S1490L	ENSP00000359650:S1490L	S	-	2	0	EYS	65358012	1.000000	0.71417	0.366000	0.25914	0.645000	0.38454	3.495000	0.53280	0.797000	0.33971	0.591000	0.81541	TCG	EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	55	0.00	0	G	XM_294050		65301291	65301291	-1	no_errors	ENST00000370616	ensembl	human	known	69_37n	missense	69	20.69	18	SNP	0.497	A
FAM171B	165215	genome.wustl.edu	37	2	187611928	187611928	+	Silent	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr2:187611928G>A	ENST00000304698.5	+	4	878	c.675G>A	c.(673-675)ttG>ttA	p.L225L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	225						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L225L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGTTTTTGAAAGTGGACA	0.313																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	102.0	103.0					2																	187611928		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.675G>A	2.37:g.187611928G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	pfam_Uncharacterised_FAM171	p.L225	ENST00000304698.5	37	c.675	CCDS33347.1	2																																																																																			FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.313	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	71	0.00	0	G	NM_177454		187611928	187611928	+1	no_errors	ENST00000304698	ensembl	human	known	69_37n	silent	95	15.93	18	SNP	0.990	A
FAM20B	9917	genome.wustl.edu	37	1	179013003	179013003	+	Silent	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:179013003C>T	ENST00000263733.4	+	2	357	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	7						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.V7V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AGCAGCGAGTCGTGCTGTTAG	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	87.0	93.0					1																	179013003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.21C>T	1.37:g.179013003C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0C3|Q5W0C4	Silent	SNP	pfam_DUF1193	p.V7	ENST00000263733.4	37	c.21	CCDS1328.1	1																																																																																			FAM20B	-	NULL	ENSG00000116199		0.468	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	137	0.00	0	C	NM_014864		179013003	179013003	+1	no_errors	ENST00000263733	ensembl	human	known	69_37n	silent	127	18.99	30	SNP	0.769	T
FAM214B	80256	genome.wustl.edu	37	9	35108147	35108148	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr9:35108147_35108148insC	ENST00000378561.1	-	2	3179_3180	c.124_125insG	c.(124-126)gcgfs	p.A42fs	FAM214B_ENST00000378554.2_Frame_Shift_Ins_p.A42fs|FAM214B_ENST00000378557.1_Frame_Shift_Ins_p.A42fs|FAM214B_ENST00000603301.1_Frame_Shift_Ins_p.A42fs|FAM214B_ENST00000605244.1_Frame_Shift_Ins_p.A42fs|FAM214B_ENST00000378566.1_5'UTR|FAM214B_ENST00000488109.2_Frame_Shift_Ins_p.A42fs|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000322813.5_Frame_Shift_Ins_p.A42fs			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	42						nucleus (GO:0005634)											GGGGGATGTCGCCCCCCCTGCT	0.653																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.125dupG	9.37:g.35108154_35108154dupC	ENSP00000367823:p.Ala42fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Frame_Shift_Ins	INS	NULL	p.A42fs	ENST00000378561.1	37	c.125_124	CCDS6578.1	9																																																																																			FAM214B	-	NULL	ENSG00000005238		0.653	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	20	0.00	0	-	NM_025182		35108147	35108148	-1	no_errors	ENST00000322813	ensembl	human	known	69_37n	frame_shift_ins	31	13.89	5	INS	0.144:0.584	C
FAT4	79633	genome.wustl.edu	37	4	126238784	126238784	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr4:126238784C>G	ENST00000394329.3	+	1	1231	c.1218C>G	c.(1216-1218)caC>caG	p.H406Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H406Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAGCGCCACTTTGAAGTGC	0.602											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											2	Substitution - Missense(2)	breast(2)											30.0	33.0	32.0					4																	126238784		2008	4184	6192	-	-	-	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1218C>G	4.37:g.126238784C>G	ENSP00000377862:p.His406Gln	Somatic	1548	WXS	Illumina GAIIx	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H406Q	ENST00000394329.3	37	c.1218	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369355	0.42003	.	.	ENSG00000196159	ENST00000394329	T	0.49139	0.79	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.000000	0.36268	U	0.002684	T	0.55737	0.1939	L	0.43646	1.37	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.51044	-0.8755	10	0.32370	T	0.25	.	8.7306	0.34496	0.0:0.8339:0.0:0.1661	.	406	Q6V0I7	FAT4_HUMAN	Q	406	ENSP00000377862:H406Q	ENSP00000377862:H406Q	H	+	3	2	FAT4	126458234	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.247000	0.43151	2.417000	0.82017	0.655000	0.94253	CAC	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.602	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	41	0.00	0	C	NM_024582		126238784	126238784	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	G
FNDC1	84624	genome.wustl.edu	37	6	159644608	159644608	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:159644608C>T	ENST00000297267.9	+	7	1015	c.815C>T	c.(814-816)tCa>tTa	p.S272L	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.S272L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	272	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S272L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGGTTATGTCATCTCAGTCT	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											164.0	162.0	163.0					6																	159644608		2030	4197	6227	-	-	-	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.815C>T	6.37:g.159644608C>T	ENSP00000297267:p.Ser272Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S272L	ENST00000297267.9	37	c.815	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649456	0.87958	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.83774	2.66	0.45634	D	0.998567	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78529	-0.2169	10	0.87932	D	0	-18.0389	20.3242	0.98691	0.0:1.0:0.0:0.0	.	272;272	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	272	ENSP00000297267:S272L;ENSP00000342460:S272L	ENSP00000297267:S272L	S	+	2	0	FNDC1	159564596	1.000000	0.71417	0.214000	0.23707	0.921000	0.55340	7.160000	0.77495	2.882000	0.98803	0.655000	0.94253	TCA	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.433	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	237	0.00	0	C	NM_032532		159644608	159644608	+1	no_errors	ENST00000297267	ensembl	human	known	69_37n	missense	292	25.89	102	SNP	0.102	T
FRMD5	84978	genome.wustl.edu	37	15	44166157	44166157	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr15:44166157G>C	ENST00000417257.1	-	14	1815	c.1639C>G	c.(1639-1641)Caa>Gaa	p.Q547E	FRMD5_ENST00000484674.1_Intron|FRMD5_ENST00000402883.1_Intron	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	547						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.Q547E(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CAAAAGTATTGATAGTGGAAT	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											71.0	71.0	71.0					15																	44166157		2198	4298	6496	-	-	-	SO:0001583	missense	0			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1639C>G	15.37:g.44166157G>C	ENSP00000403067:p.Gln547Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NBG4	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.Q547E	ENST00000417257.1	37	c.1639	CCDS10107.2	15	.	.	.	.	.	.	.	.	.	.	G	2.297	-0.361091	0.05103	.	.	ENSG00000171877	ENST00000417257	T	0.81415	-1.49	5.82	5.82	0.92795	.	0.058184	0.64402	D	0.000001	T	0.61350	0.2340	N	0.03948	-0.315	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.60260	-0.7298	10	0.08179	T	0.78	.	18.6867	0.91567	0.0:0.0:1.0:0.0	.	532;547	Q7Z6J6-2;Q7Z6J6	.;FRMD5_HUMAN	E	547	ENSP00000403067:Q547E	ENSP00000403067:Q547E	Q	-	1	0	FRMD5	41953449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.783000	0.68982	2.756000	0.94617	0.563000	0.77884	CAA	FRMD5	-	NULL	ENSG00000171877		0.493	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD5	HGNC	protein_coding	OTTHUMT00000133879.1	170	0.00	0	G	NM_032892		44166157	44166157	-1	no_errors	ENST00000417257	ensembl	human	known	69_37n	missense	151	10.65	18	SNP	1.000	C
GBP7	388646	genome.wustl.edu	37	1	89613445	89613445	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:89613445C>G	ENST00000294671.2	-	8	1308	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	390						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K390N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGTCTTCCTTCTTTTTCTCCA	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											116.0	114.0	115.0					1																	89613445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1170G>C	1.37:g.89613445C>G	ENSP00000294671:p.Lys390Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.K390N	ENST00000294671.2	37	c.1170	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937205	0.18206	.	.	ENSG00000213512	ENST00000294671	T	0.02682	4.2	3.95	-1.34	0.09143	Guanylate-binding protein, C-terminal (3);	0.745457	0.12695	N	0.446871	T	0.01940	0.0061	M	0.86805	2.84	0.09310	N	1	B	0.23540	0.087	B	0.31495	0.131	T	0.33904	-0.9850	10	0.56958	D	0.05	.	4.1272	0.10133	0.155:0.4667:0.0:0.3784	.	390	Q8N8V2	GBP7_HUMAN	N	390	ENSP00000294671:K390N	ENSP00000294671:K390N	K	-	3	2	GBP7	89386033	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.453000	0.02383	-0.526000	0.06383	-0.216000	0.12614	AAG	GBP7	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000213512		0.438	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	158	0.00	0	C	NM_207398		89613445	89613445	-1	no_errors	ENST00000294671	ensembl	human	known	69_37n	missense	176	10.66	21	SNP	0.006	G
GNPTG	84572	genome.wustl.edu	37	16	1412632	1412632	+	Silent	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr16:1412632G>A	ENST00000204679.4	+	9	673	c.630G>A	c.(628-630)agG>agA	p.R210R	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	210					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)	p.R210R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGTTGCTGAGGACACTTTTTG	0.597																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											58.0	63.0	61.0					16																	1412632		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.630G>A	16.37:g.1412632G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.R210	ENST00000204679.4	37	c.630	CCDS10436.1	16																																																																																			GNPTG	-	NULL	ENSG00000090581		0.597	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	91	0.00	0	G	NM_032520		1412632	1412632	+1	no_errors	ENST00000204679	ensembl	human	known	69_37n	silent	57	41.84	41	SNP	0.241	A
GPC5	2262	genome.wustl.edu	37	13	92345967	92345967	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr13:92345967C>A	ENST00000377067.3	+	3	1224	c.852C>A	c.(850-852)caC>caA	p.H284Q		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	284					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.H284Q(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCTGGCGCACATGGCGGAGC	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	102.0	106.0					13																	92345967		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.852C>A	13.37:g.92345967C>A	ENSP00000366267:p.His284Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	pfam_Glypican	p.H284Q	ENST00000377067.3	37	c.852	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191351	0.38707	.	.	ENSG00000179399	ENST00000377067	T	0.48836	0.8	5.6	2.42	0.29668	.	0.346370	0.35291	N	0.003318	T	0.36358	0.0964	L	0.47716	1.5	0.25043	N	0.991186	B	0.11235	0.004	B	0.06405	0.002	T	0.31943	-0.9925	10	0.59425	D	0.04	-2.8611	6.2289	0.20724	0.1399:0.6293:0.0:0.2307	.	284	P78333	GPC5_HUMAN	Q	284	ENSP00000366267:H284Q	ENSP00000366267:H284Q	H	+	3	2	GPC5	91143968	0.136000	0.22515	0.725000	0.30721	0.933000	0.57130	1.747000	0.38298	0.692000	0.31613	0.655000	0.94253	CAC	GPC5	-	pfam_Glypican	ENSG00000179399		0.547	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	73	0.00	0	C	NM_004466		92345967	92345967	+1	no_errors	ENST00000377067	ensembl	human	known	69_37n	missense	79	14.13	13	SNP	0.684	A
GUCY2C	2984	genome.wustl.edu	37	12	14804406	14804406	+	Missense_Mutation	SNP	C	C	A	rs367698688	byFrequency	TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr12:14804406C>A	ENST00000261170.3	-	15	1781	c.1645G>T	c.(1645-1647)Ggc>Tgc	p.G549C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTCACTGTGCCGTAGAACTTG	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	95.0	99.0					12																	14804406		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1645G>T	12.37:g.14804406C>A	ENSP00000261170:p.Gly549Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.G549C	ENST00000261170.3	37	c.1645	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785644	0.70337	.	.	ENSG00000070019	ENST00000261170	D	0.89343	-2.5	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95561	0.8629	10	0.87932	D	0	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	549	P25092	GUC2C_HUMAN	C	549	ENSP00000261170:G549C	ENSP00000261170:G549C	G	-	1	0	GUCY2C	14695673	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.420000	0.80191	2.603000	0.88011	0.655000	0.94253	GGC	GUCY2C	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000070019		0.403	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	103	0.96	1	C			14804406	14804406	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	missense	105	17.19	22	SNP	1.000	A
IGHV3-38	28429	genome.wustl.edu	37	14	106866438	106866438	+	RNA	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr14:106866438C>T	ENST00000390618.2	-	0	393									immunoglobulin heavy variable 3-38 (non-functional)																		GCCGTGCCCTCAGCTCTCAGG	0.522																																						dbGAP											0													140.0	127.0	131.0					14																	106866438		2172	4273	6445	-	-	-			0			M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866438C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E106K	ENST00000390618.2	37	c.316		14																																																																																			IGHV3-38	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211958		0.522	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV3-38	HGNC	IG_V_gene	OTTHUMT00000325190.1	249	0.00	0	C	NG_001019		106866438	106866438	-1	no_stop_codon	ENST00000390618	ensembl	human	known	69_37n	missense	192	12.33	27	SNP	0.997	T
ITPKB	3707	genome.wustl.edu	37	1	226924234	226924234	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:226924234C>G	ENST00000272117.3	-	1	925	c.926G>C	c.(925-927)aGa>aCa	p.R309T	ITPKB_ENST00000366784.1_Missense_Mutation_p.R309T|ITPKB_ENST00000429204.1_Missense_Mutation_p.R309T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	309					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.R309T(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GGATGTAACTCTCGCTGCCAC	0.627																																					Colon(84;110 1851 5306 33547)	dbGAP											1	Substitution - Missense(1)	breast(1)											44.0	53.0	50.0					1																	226924234		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.926G>C	1.37:g.226924234C>G	ENSP00000272117:p.Arg309Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.R309T	ENST00000272117.3	37	c.926	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	C	0.381	-0.928796	0.02359	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25085	1.84;1.84;1.82	4.6	-5.44	0.02624	.	1.994030	0.02228	N	0.064637	T	0.11879	0.0289	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.15009	-1.0452	10	0.11794	T	0.64	.	1.5852	0.02642	0.1829:0.2201:0.3704:0.2266	.	309	P27987	IP3KB_HUMAN	T	309	ENSP00000272117:R309T;ENSP00000411152:R309T;ENSP00000355748:R309T	ENSP00000272117:R309T	R	-	2	0	ITPKB	224990857	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.940000	0.03929	-1.100000	0.03030	-1.157000	0.01802	AGA	ITPKB	-	NULL	ENSG00000143772		0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	23	0.00	0	C	NM_002221		226924234	226924234	-1	no_errors	ENST00000272117	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.000	G
KIAA0825	285600	genome.wustl.edu	37	5	93739405	93739405	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr5:93739405G>C	ENST00000513200.3	-	15	2828	c.2756C>G	c.(2755-2757)tCt>tGt	p.S919C	KIAA0825_ENST00000427991.2_Missense_Mutation_p.S919C	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	919								p.S919C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						ACTCATTACAGATACTATCTG	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											171.0	139.0	149.0					5																	93739405		692	1591	2283	-	-	-	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.2756C>G	5.37:g.93739405G>C	ENSP00000424618:p.Ser919Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.S919C	ENST00000513200.3	37	c.2756		5	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841545	0.51057	.	.	ENSG00000185261	ENST00000513200;ENST00000427991	T;T	0.55052	0.54;0.54	5.69	3.6	0.41247	.	.	.	.	.	T	0.63616	0.2526	M	0.61703	1.905	0.30199	N	0.798785	D	0.64830	0.994	P	0.58873	0.847	T	0.62964	-0.6742	9	0.87932	D	0	.	10.0088	0.41972	0.1917:0.0:0.8083:0.0	.	919	Q8IV33	K0825_HUMAN	C	919	ENSP00000424618:S919C;ENSP00000400288:S919C	ENSP00000400288:S919C	S	-	2	0	KIAA0825	93765161	0.997000	0.39634	0.001000	0.08648	0.029000	0.11900	2.692000	0.47018	0.529000	0.28599	0.655000	0.94253	TCT	KIAA0825	-	NULL	ENSG00000185261		0.443	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	97	0.00	0	G	NM_173665		93739405	93739405	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	missense	104	13.33	16	SNP	0.103	C
LCK	3932	genome.wustl.edu	37	1	32741215	32741215	+	Silent	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:32741215C>T	ENST00000336890.5	+	6	561	c.423C>T	c.(421-423)ctC>ctT	p.L141L	LCK_ENST00000333070.4_Silent_p.L141L|LCK_ENST00000373564.3_Silent_p.L199L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	141	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.L199L(1)|p.L141L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AGCGGCAGCTCCTGGCGCCCG	0.706			T	TRB@	T-ALL																																	dbGAP		Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	2	Substitution - coding silent(2)	breast(2)																																								-	-	-	SO:0001819	synonymous_variant	0			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.423C>T	1.37:g.32741215C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L141	ENST00000336890.5	37	c.423	CCDS359.1	1																																																																																			LCK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000182866		0.706	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	23	0.00	0	C	NM_005356		32741215	32741215	+1	no_errors	ENST00000333070	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.476	T
LIPG	9388	genome.wustl.edu	37	18	47110100	47110100	+	Silent	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr18:47110100G>A	ENST00000261292.4	+	8	1610	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	LIPG_ENST00000427224.2_Silent_p.L370L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	444	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.L444L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GACGGGAGCTGAATATCAGGC	0.592																																					Pancreas(126;280 1778 12814 26243 34948)	dbGAP											1	Substitution - coding silent(1)	breast(1)											42.0	39.0	40.0					18																	47110100		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1332G>A	18.37:g.47110100G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep,pfscan_LipOase_LH2	p.L444	ENST00000261292.4	37	c.1332	CCDS11938.1	18																																																																																			LIPG	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2	ENSG00000101670		0.592	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1	87	0.00	0	G	NM_006033		47110100	47110100	+1	no_errors	ENST00000261292	ensembl	human	known	69_37n	silent	156	20.00	39	SNP	0.026	A
LRRC16A	55604	genome.wustl.edu	37	6	25471408	25471408	+	Silent	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:25471408C>T	ENST00000329474.6	+	10	1070	c.702C>T	c.(700-702)gtC>gtT	p.V234V	LRRC16A_ENST00000377969.3_Silent_p.V73V	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	234					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.V234V(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCACTGATGTCTGTGAACAGA	0.343																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											150.0	144.0	146.0					6																	25471408		1847	4093	5940	-	-	-	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.702C>T	6.37:g.25471408C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	NULL	p.V73	ENST00000329474.6	37	c.219	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.343	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	497	0.00	0	C	NM_017640		25471408	25471408	+1	no_errors	ENST00000377969	ensembl	human	known	69_37n	silent	309	12.71	45	SNP	1.000	T
MAGEL2	54551	genome.wustl.edu	37	15	23889829	23889829	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr15:23889829C>T	ENST00000532292.1	-	1	1346	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	301	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.L449L(1)|p.D418N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCCCTCTCATCCAAGGGAGAC	0.562																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	breast(2)											46.0	46.0	46.0					15																	23889829		2036	4188	6224	-	-	-	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1252G>A	15.37:g.23889829C>T	ENSP00000433433:p.Asp418Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D418N	ENST00000532292.1	37	c.1252		15	.	.	.	.	.	.	.	.	.	.	C	1.669	-0.509569	0.04231	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.29	1.4	0.22301	.	.	.	.	.	.	.	.	L	0.35414	1.06	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2173	0.20661	0.0:0.685:0.0:0.315	.	.	.	.	X	449	.	.	W	-	3	0	MAGEL2	21440922	0.758000	0.28405	0.279000	0.24732	0.016000	0.09150	0.643000	0.24750	0.209000	0.20645	-0.136000	0.14681	TGG	MAGEL2	-	pfscan_MAGE	ENSG00000254585		0.562	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	30	0.00	0	C	NM_019066		23889829	23889829	-1	no_errors	ENST00000532292	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	0.267	T
MCTP2	55784	genome.wustl.edu	37	15	94945238	94945238	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr15:94945238T>C	ENST00000357742.4	+	16	2075	c.2075T>C	c.(2074-2076)aTa>aCa	p.I692T	MCTP2_ENST00000331706.4_Missense_Mutation_p.I280T|MCTP2_ENST00000557742.1_Missense_Mutation_p.I280T|MCTP2_ENST00000451018.3_Missense_Mutation_p.I692T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	692					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.I692T(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAAGTACAATAGCATTCGCG	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	112.0	113.0					15																	94945238		2197	4298	6495	-	-	-	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2075T>C	15.37:g.94945238T>C	ENSP00000350377:p.Ile692Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I692T	ENST00000357742.4	37	c.2075	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	T	5.139	0.211274	0.09757	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.68025	-0.3;-0.24;-0.21	5.75	4.5	0.54988	.	0.473985	0.24422	N	0.038674	T	0.50871	0.1641	N	0.25426	0.745	0.31523	N	0.66214	B;B;B	0.09022	0.0;0.002;0.001	B;B;B	0.11329	0.003;0.005;0.006	T	0.49995	-0.8879	10	0.18276	T	0.48	.	11.4137	0.49939	0.0:0.076:0.0:0.924	.	692;280;692	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	T	692;280;692	ENSP00000395109:I692T;ENSP00000329646:I280T;ENSP00000350377:I692T	ENSP00000329646:I280T	I	+	2	0	MCTP2	92746242	0.925000	0.31364	0.116000	0.21606	0.190000	0.23558	4.327000	0.59247	0.880000	0.35969	0.533000	0.62120	ATA	MCTP2	-	NULL	ENSG00000140563		0.373	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	133	0.00	0	T	NM_018349		94945238	94945238	+1	no_errors	ENST00000357742	ensembl	human	known	69_37n	missense	122	12.23	17	SNP	0.677	C
METTL4	64863	genome.wustl.edu	37	18	2567036	2567036	+	Silent	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr18:2567036A>G	ENST00000574538.1	-	2	955	c.180T>C	c.(178-180)gcT>gcC	p.A60A	METTL4_ENST00000319888.6_Silent_p.A60A	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	60					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.A60A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAATAAATGCAGCACAGACTC	0.408																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											80.0	75.0	77.0					18																	2567036		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.180T>C	18.37:g.2567036A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNA1|Q2TAA7|Q9H5U9	Silent	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.A60	ENST00000574538.1	37	c.180	CCDS11826.1	18																																																																																			METTL4	-	NULL	ENSG00000101574		0.408	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	73	0.00	0	A	NM_022840		2567036	2567036	-1	no_errors	ENST00000574538	ensembl	human	known	69_37n	silent	88	13.73	14	SNP	0.004	G
MPDZ	8777	genome.wustl.edu	37	9	13168444	13168444	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr9:13168444C>T	ENST00000319217.7	-	22	3422	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	MPDZ_ENST00000538841.1_5'Flank|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1059K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1059K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1059K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1059K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1059K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1059K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1059	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.E1059K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTAGACTCTTCATTAATGGAC	0.458																																						dbGAP											2	Substitution - Missense(2)	breast(2)											223.0	215.0	217.0					9																	13168444		1960	4166	6126	-	-	-	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3175G>A	9.37:g.13168444C>T	ENSP00000320006:p.Glu1059Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E1059K	ENST00000319217.7	37	c.3175		9	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430389	0.62844	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.32	5.32	0.75619	.	0.154448	0.30085	N	0.010457	T	0.26521	0.0648	L	0.27975	0.815	0.80722	D	1	D;P;D	0.58268	0.96;0.95;0.982	P;P;P	0.52454	0.699;0.574;0.574	T	0.00923	-1.1513	10	0.23302	T	0.38	.	12.7536	0.57321	0.0:0.9247:0.0:0.0753	.	1059;1059;1059	B7ZMI4;O75970-3;O75970-2	.;.;.	K	1059;1059;1059;65;1059;1059;1059;1009;1059	ENSP00000320006:E1059K;ENSP00000439807:E1059K;ENSP00000370410:E1059K;ENSP00000444230:E65K;ENSP00000444151:E1059K;ENSP00000415208:E1059K;ENSP00000370403:E1059K;ENSP00000446358:E1059K	ENSP00000320006:E1059K	E	-	1	0	MPDZ	13158444	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.739000	0.68622	2.652000	0.90054	0.650000	0.86243	GAA	MPDZ	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107186		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	72	0.00	0	C	NM_003829		13168444	13168444	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	1.000	T
MRPS22	56945	genome.wustl.edu	37	3	139071564	139071564	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:139071564G>C	ENST00000495075.1	+	8	1240	c.808G>C	c.(808-810)Gga>Cga	p.G270R	MRPS22_ENST00000465056.1_Missense_Mutation_p.G269R|MRPS22_ENST00000478464.1_Missense_Mutation_p.G229R|MRPS22_ENST00000310776.4_Missense_Mutation_p.G270R			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	270						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.G270R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATACTTTGGTGGAATGGTGTG	0.328																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	146.0	146.0					3																	139071564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.808G>C	3.37:g.139071564G>C	ENSP00000418008:p.Gly270Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3I1	Missense_Mutation	SNP	pfam_Ribosomal_S22_mit	p.G270R	ENST00000495075.1	37	c.808	CCDS3107.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.859825|4.859825	0.91433|0.91433	.|.	.|.	ENSG00000175110|ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464|ENST00000480644	D;D;D;D|.	0.83419|.	-1.72;-1.72;-1.72;-1.72|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78641|0.78641	0.4315|0.4315	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.996;0.998;0.999|.	T|T	0.77313|0.77313	-0.2634|-0.2634	10|5	0.62326|.	D|.	0.03|.	-23.2067|-23.2067	19.769|19.769	0.96353|0.96353	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;269;270|.	G5E9W7;G5E9V5;P82650|.	.;.;RT22_HUMAN|.	R|S	270;270;269;229|98	ENSP00000418008:G270R;ENSP00000310785:G270R;ENSP00000418233:G269R;ENSP00000419303:G229R|.	ENSP00000310785:G270R|.	G|W	+|+	1|2	0|0	MRPS22|MRPS22	140554254|140554254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.966000|8.966000	0.93397|0.93397	2.773000|2.773000	0.95371|0.95371	0.655000|0.655000	0.94253|0.94253	GGA|TGG	MRPS22	-	pfam_Ribosomal_S22_mit	ENSG00000175110		0.328	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS22	HGNC	protein_coding	OTTHUMT00000358120.1	314	0.00	0	G	NM_020191		139071564	139071564	+1	no_errors	ENST00000310776	ensembl	human	known	69_37n	missense	231	25.48	79	SNP	1.000	C
MUC20	200958	genome.wustl.edu	37	3	195453371	195453371	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:195453371A>G	ENST00000447234.2	+	2	2023	c.1897A>G	c.(1897-1899)Aag>Gag	p.K633E	MUC20_ENST00000320736.6_Missense_Mutation_p.K462E|MUC20_ENST00000445522.2_Missense_Mutation_p.K598E|MUC20_ENST00000436408.1_Missense_Mutation_p.K633E	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	633	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.K444E(1)|p.K633E(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AACCTCAGCGAAGACCACGAT	0.612																																						dbGAP											2	Substitution - Missense(2)	breast(2)											99.0	113.0	108.0					3																	195453371		2115	4239	6354	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1897A>G	3.37:g.195453371A>G	ENSP00000414350:p.Lys633Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.K633E	ENST00000447234.2	37	c.1897		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.636688|2.636688	0.47049|0.47049	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000423938|ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.|T;T;T;T	.|0.23147	.|2.37;2.51;2.52;1.92	4.79|4.79	-1.69|-1.69	0.08186|0.08186	.|.	.|0.987391	.|0.08238	.|N	.|0.976521	T|T	0.15609|0.15609	0.0376|0.0376	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|P	.|0.35745	.|0.518	.|B	.|0.32533	.|0.147	T|T	0.25152|0.25152	-1.0140|-1.0140	5|10	.|0.27785	.|T	.|0.31	-0.0232|-0.0232	4.8967|4.8967	0.13753|0.13753	0.4625:0.1695:0.368:0.0|0.4625:0.1695:0.368:0.0	.|.	.|462	.|E9PH32	.|.	G|E	44|444;633;462;633;598	.|ENSP00000414350:K633E;ENSP00000325431:K462E;ENSP00000396774:K633E;ENSP00000405629:K598E	.|ENSP00000325431:K462E	E|K	+|+	2|1	0|0	MUC20|MUC20	196939042|196939042	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.025000|0.025000	0.11179|0.11179	-0.524000|-0.524000	0.06222|0.06222	-0.147000|-0.147000	0.11254|0.11254	-0.316000|-0.316000	0.08728|0.08728	GAA|AAG	MUC20	-	NULL	ENSG00000176945		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	124	0.00	0	A	NM_152673		195453371	195453371	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	100	20.00	25	SNP	0.002	G
MUC4	4585	genome.wustl.edu	37	3	195508700	195508700	+	Missense_Mutation	SNP	C	C	T	rs201890853	byFrequency	TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:195508700C>T	ENST00000463781.3	-	2	10210	c.9751G>A	c.(9751-9753)Gtc>Atc	p.V3251I	MUC4_ENST00000475231.1_Missense_Mutation_p.V3251I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTCGGTGACAGGAAGAGAG	0.562													.|||	159	0.0317492	0.0613	0.013	5008	,	,		10529	0.002		0.0239	False		,,,				2504	0.044					dbGAP											0													3.0	2.0	3.0					3																	195508700		533	1209	1742	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9751G>A	3.37:g.195508700C>T	ENSP00000417498:p.Val3251Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.V3251I	ENST00000463781.3	37	c.9751	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	c	8.154	0.788103	0.16258	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.32;1.29	1.03	1.03	0.20045	.	.	.	.	.	T	0.37293	0.0998	N	0.19112	0.55	0.09310	N	1	D	0.56968	0.978	D	0.65443	0.935	T	0.19877	-1.0292	8	.	.	.	.	7.5882	0.28006	0.0:1.0:0.0:0.0	.	3123	E7ESK3	.	I	3251	ENSP00000417498:V3251I;ENSP00000420243:V3251I	.	V	-	1	0	MUC4	196993479	0.020000	0.18652	0.003000	0.11579	0.051000	0.14879	0.655000	0.24933	0.494000	0.27859	0.089000	0.15464	GTC	MUC4	-	NULL	ENSG00000145113		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	8	0.00	0	C	NM_018406		195508700	195508700	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	6	45.45	5	SNP	0.007	T
NKAPL	222698	genome.wustl.edu	37	6	28227456	28227456	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:28227456G>A	ENST00000343684.3	+	1	359	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	103								p.E103K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CTGCTATGCAGAAGAACGGCA	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	66.0	67.0					6																	28227456		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.307G>A	6.37:g.28227456G>A	ENSP00000345716:p.Glu103Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.E103K	ENST00000343684.3	37	c.307	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360867	0.11296	.	.	ENSG00000189134	ENST00000343684	T	0.14022	2.54	4.77	2.02	0.26589	.	1.244300	0.05553	N	0.567950	T	0.02418	0.0074	L	0.36672	1.1	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37549	-0.9701	10	0.02654	T	1	-0.5338	6.7964	0.23727	0.2921:0.0:0.7079:0.0	.	103	Q5M9Q1	NKAPL_HUMAN	K	103	ENSP00000345716:E103K	ENSP00000345716:E103K	E	+	1	0	NKAPL	28335435	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.153000	0.16323	0.330000	0.23485	0.655000	0.94253	GAA	NKAPL	-	NULL	ENSG00000189134		0.577	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	22	0.00	0	G			28227456	28227456	+1	no_errors	ENST00000343684	ensembl	human	known	69_37n	missense	59	20.27	15	SNP	0.001	A
NR4A2	4929	genome.wustl.edu	37	2	157184493	157184493	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr2:157184493C>A	ENST00000339562.4	-	5	1390	c.1028G>T	c.(1027-1029)gGt>gTt	p.G343V	NR4A2_ENST00000429376.1_Missense_Mutation_p.G280V|NR4A2_ENST00000409108.2_Missense_Mutation_p.G343V|NR4A2_ENST00000409572.1_Missense_Mutation_p.G343V|NR4A2_ENST00000426264.1_Missense_Mutation_p.G280V|NR4A2_ENST00000539077.1_Missense_Mutation_p.G354V	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	343					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G343V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGCAAACGACCTCTCCGGCC	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											29.0	28.0	28.0					2																	157184493		2203	4300	6503	-	-	-	SO:0001583	missense	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1028G>T	2.37:g.157184493C>A	ENSP00000344479:p.Gly343Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G354V	ENST00000339562.4	37	c.1061	CCDS2201.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.800677|4.800677	0.90538|0.90538	.|.	.|.	ENSG00000153234|ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376|ENST00000406048	T;T;T;T;T;T|D	0.51574|0.90955	0.7;0.7;0.7;0.7;0.7;0.7|-2.76	6.03|6.03	6.03|6.03	0.97812|0.97812	Nuclear hormone receptor, ligand-binding (2);|.	1.221940|.	0.05586|.	N|.	0.573836|.	D|D	0.95404|0.95404	0.8508|0.8508	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.95193|0.95193	0.8310|0.8310	10|7	0.87932|0.87932	D|D	0|0	.|.	20.1617|20.1617	0.98138|0.98138	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|.	P43354|.	NR4A2_HUMAN|.	V|S	343;280;343;354;343;280|124	ENSP00000344479:G343V;ENSP00000389986:G280V;ENSP00000386747:G343V;ENSP00000444925:G354V;ENSP00000386993:G343V;ENSP00000410952:G280V|ENSP00000385379:R124S	ENSP00000344479:G343V|ENSP00000385379:R124S	G|R	-|-	2|3	0|2	NR4A2|NR4A2	156892739|156892739	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GGT|AGG	NR4A2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Nuc_orph_rcpt	ENSG00000153234		0.627	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2	33	0.00	0	C			157184493	157184493	-1	no_errors	ENST00000539077	ensembl	human	known	69_37n	missense	72	14.29	12	SNP	1.000	A
OR6X1	390260	genome.wustl.edu	37	11	123624853	123624853	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr11:123624853C>A	ENST00000327930.2	-	1	400	c.374G>T	c.(373-375)tGc>tTc	p.C125F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C125F(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGGGATTGCAGATGGTGAG	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											148.0	146.0	146.0					11																	123624853		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.374G>T	11.37:g.123624853C>A	ENSP00000333724:p.Cys125Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGW9|Q6IFA0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C125F	ENST00000327930.2	37	c.374	CCDS31695.1	11	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862162	0.71949	.	.	ENSG00000221931	ENST00000327930	T	0.34472	1.36	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72581	0.3478	H	0.97732	4.065	0.52501	D	0.999956	D	0.89917	1.0	D	0.87578	0.998	T	0.83208	-0.0075	9	0.87932	D	0	-9.5596	14.3878	0.66958	0.0:1.0:0.0:0.0	.	125	Q8NH79	OR6X1_HUMAN	F	125	ENSP00000333724:C125F	ENSP00000333724:C125F	C	-	2	0	OR6X1	123130063	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	7.380000	0.79704	2.261000	0.74972	0.650000	0.86243	TGC	OR6X1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221931		0.557	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	443	0.00	0	C	NM_001005188		123624853	123624853	-1	no_errors	ENST00000327930	ensembl	human	known	69_37n	missense	279	20.51	72	SNP	1.000	A
OTOF	9381	genome.wustl.edu	37	2	26690299	26690299	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr2:26690299C>G	ENST00000272371.2	-	34	4287	c.4161G>C	c.(4159-4161)caG>caC	p.Q1387H	OTOF_ENST00000339598.3_Missense_Mutation_p.Q620H|OTOF_ENST00000403946.3_Missense_Mutation_p.Q1387H|OTOF_ENST00000338581.6_Missense_Mutation_p.Q620H|OTOF_ENST00000402415.3_Missense_Mutation_p.Q697H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1387					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.Q620H(1)|p.Q1387H(1)|p.Q697H(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCAGAGCTCTGAGTTTTCT	0.557																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											3	Substitution - Missense(3)	breast(3)											46.0	50.0	49.0					2																	26690299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4161G>C	2.37:g.26690299C>G	ENSP00000272371:p.Gln1387His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.Q1387H	ENST00000272371.2	37	c.4161	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836679	0.32421	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	5.44	4.56	0.56223	.	0.202329	0.42172	D	0.000753	T	0.79718	0.4494	M	0.70595	2.14	0.41458	D	0.98802	P;P;P;B	0.45283	0.855;0.78;0.547;0.024	B;B;B;B	0.41088	0.288;0.347;0.191;0.037	T	0.80848	-0.1199	10	0.48119	T	0.1	-35.1375	13.5686	0.61832	0.0:0.9241:0.0:0.0759	.	1387;620;697;620	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	620;620;697;1387;1387	ENSP00000345137:Q620H;ENSP00000344521:Q620H;ENSP00000383906:Q697H;ENSP00000272371:Q1387H;ENSP00000385255:Q1387H	ENSP00000272371:Q1387H	Q	-	3	2	OTOF	26543803	0.305000	0.24481	0.312000	0.25196	0.081000	0.17604	0.678000	0.25277	1.282000	0.44496	0.655000	0.94253	CAG	OTOF	-	NULL	ENSG00000115155		0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	55	0.00	0	C			26690299	26690299	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	68	10.53	8	SNP	0.978	G
PAMR1	25891	genome.wustl.edu	37	11	35454330	35454330	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr11:35454330G>C	ENST00000378880.2	-	11	2182	c.1737C>G	c.(1735-1737)atC>atG	p.I579M	PAMR1_ENST00000378878.3_Missense_Mutation_p.I468M|PAMR1_ENST00000532848.1_Missense_Mutation_p.I539M|PAMR1_ENST00000278360.3_Missense_Mutation_p.I596M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	579	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.I596M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGCGAGGCAGATGGGCTGGA	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	63.0	65.0					11																	35454330		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1737C>G	11.37:g.35454330G>C	ENSP00000368158:p.Ile579Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_EGF-like,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.I596M	ENST00000378880.2	37	c.1788	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347015	0.61183	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	5.47	3.56	0.40772	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.110617	0.64402	D	0.000005	D	0.96153	0.8746	M	0.90759	3.145	0.41890	D	0.990368	D;D;P	0.64830	0.994;0.994;0.773	P;P;B	0.60886	0.88;0.876;0.366	D	0.93951	0.7232	10	0.87932	D	0	.	1.7382	0.02946	0.1595:0.1386:0.4162:0.2857	.	468;579;596	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	M	596;579;468;539;556	ENSP00000278360:I596M;ENSP00000368158:I579M;ENSP00000368156:I468M;ENSP00000433868:I539M;ENSP00000432591:I556M	ENSP00000278360:I596M	I	-	3	3	PAMR1	35410906	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.048000	0.30379	0.654000	0.30846	0.561000	0.74099	ATC	PAMR1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000149090		0.582	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	135	0.00	0	G	NM_015430		35454330	35454330	-1	no_errors	ENST00000278360	ensembl	human	known	69_37n	missense	147	12.50	21	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	82	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	78	32.17	37	SNP	1.000	G
PITPNM1	9600	genome.wustl.edu	37	11	67266143	67266143	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr11:67266143C>T	ENST00000534749.1	-	9	1596	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E470K|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E470K			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	470					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)	p.E470K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCAAGGCCTCAGGGAAGTGG	0.657																																					GBM(28;144 709 4607 5525)	dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	70.0	68.0					11																	67266143		2200	4294	6494	-	-	-	SO:0001583	missense	0			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1408G>A	11.37:g.67266143C>T	ENSP00000437286:p.Glu470Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.E470K	ENST00000534749.1	37	c.1408	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	c	23.5	4.421259	0.83559	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.19105	2.17;2.17;2.17	3.94	3.94	0.45596	.	0.000000	0.49916	D	0.000139	T	0.18923	0.0454	N	0.14661	0.345	0.45528	D	0.998484	P;P	0.37352	0.591;0.456	P;B	0.45037	0.467;0.225	T	0.11767	-1.0574	10	0.44086	T	0.13	-27.3718	15.1195	0.72432	0.0:1.0:0.0:0.0	.	470;470	O00562-2;O00562	.;PITM1_HUMAN	K	470	ENSP00000437286:E470K;ENSP00000398787:E470K;ENSP00000348772:E470K	ENSP00000348772:E470K	E	-	1	0	PITPNM1	67022719	0.991000	0.36638	0.970000	0.41538	0.965000	0.64279	3.011000	0.49567	2.196000	0.70406	0.550000	0.68814	GAG	PITPNM1	-	NULL	ENSG00000110697		0.657	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	9	0.00	0	C	NM_004910		67266143	67266143	-1	no_errors	ENST00000356404	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.996	T
PKD1L1	168507	genome.wustl.edu	37	7	47968840	47968840	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr7:47968840C>T	ENST00000289672.2	-	7	1071	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	341					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.E341K(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCATTGCCTCAGACATGTTG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											144.0	137.0	139.0					7																	47968840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1021G>A	7.37:g.47968840C>T	ENSP00000289672:p.Glu341Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.E341K	ENST00000289672.2	37	c.1021	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157484	0.09236	.	.	ENSG00000158683	ENST00000289672	T	0.19806	2.12	4.11	1.18	0.20946	.	29.947800	0.00166	N	0.000000	T	0.13329	0.0323	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.20806	-1.0264	10	0.20046	T	0.44	-3.1752	6.1542	0.20328	0.0:0.5268:0.3683:0.1049	.	341	Q8TDX9	PK1L1_HUMAN	K	341	ENSP00000289672:E341K	ENSP00000289672:E341K	E	-	1	0	PKD1L1	47935365	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.107000	0.15375	0.126000	0.18424	0.579000	0.79373	GAG	PKD1L1	-	NULL	ENSG00000158683		0.527	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	68	0.00	0	C	NM_138295		47968840	47968840	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	missense	54	27.63	21	SNP	0.000	T
PLD3	23646	genome.wustl.edu	37	19	40880504	40880504	+	Silent	SNP	T	T	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr19:40880504T>G	ENST00000409587.1	+	10	1393	c.996T>G	c.(994-996)acT>acG	p.T332T	PLD3_ENST00000409735.4_Silent_p.T332T|PLD3_ENST00000409419.1_Silent_p.T332T|PLD3_ENST00000409281.1_Silent_p.T332T|PLD3_ENST00000356508.5_Silent_p.T332T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	332					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)	p.T332T(1)|p.T279T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			ACCTGCCCACTCTGGAGTTCT	0.577																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											136.0	128.0	131.0					19																	40880504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.996T>G	19.37:g.40880504T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q92853|Q9BW87	Silent	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.T332	ENST00000409587.1	37	c.996	CCDS33027.1	19																																																																																			PLD3	-	NULL	ENSG00000105223		0.577	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLD3	HGNC	protein_coding	OTTHUMT00000327721.1	61	0.00	0	T	NM_012268		40880504	40880504	+1	no_errors	ENST00000356508	ensembl	human	known	69_37n	silent	40	18.37	9	SNP	0.998	G
PPP3CA	5530	genome.wustl.edu	37	4	101982313	101982313	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr4:101982313C>G	ENST00000394854.3	-	10	1770	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	PPP3CA_ENST00000323055.6_Missense_Mutation_p.E321Q|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E265Q|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E131Q|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E363Q|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E296Q	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	363					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.E363Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ACCAGCATCTCAGTCACTAAA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											111.0	106.0	108.0					4																	101982313		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1087G>C	4.37:g.101982313C>G	ENSP00000378323:p.Glu363Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.E363Q	ENST00000394854.3	37	c.1087	CCDS34037.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.060411	0.93846	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	M	0.87682	2.9	0.80722	D	1	P;D;P;P;B;P	0.53151	0.783;0.958;0.956;0.798;0.313;0.525	B;P;P;B;B;B	0.58210	0.282;0.835;0.701;0.325;0.03;0.037	T	0.06267	-1.0836	10	0.72032	D	0.01	-17.2896	19.0616	0.93095	0.0:1.0:0.0:0.0	.	363;131;321;363;265;296	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	Q	131;363;321;363;265;296	ENSP00000422781:E131Q;ENSP00000378323:E363Q;ENSP00000320580:E321Q;ENSP00000378322:E363Q;ENSP00000422990:E265Q;ENSP00000429350:E296Q	ENSP00000320580:E321Q	E	-	1	0	PPP3CA	102201336	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.513000	0.81739	2.499000	0.84300	0.591000	0.81541	GAG	PPP3CA	-	NULL	ENSG00000138814		0.383	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	104	0.00	0	C	NM_000944		101982313	101982313	-1	no_errors	ENST00000394854	ensembl	human	known	69_37n	missense	95	29.10	39	SNP	1.000	G
PSMA3	5684	genome.wustl.edu	37	14	58727739	58727739	+	Splice_Site	SNP	G	G	A			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr14:58727739G>A	ENST00000216455.4	+	6	567		c.e6+1		PSMA3_ENST00000557508.1_Splice_Site|PSMA3_ENST00000412908.2_Splice_Site	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						TGTTTCATACGTGAGTAATTT	0.303																																						dbGAP											1	Unknown(1)	breast(1)											134.0	127.0	129.0					14																	58727739		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.477+1G>A	14.37:g.58727739G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Splice_Site	SNP	-	e6+1	ENST00000216455.4	37	c.477+1	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168135	0.78339	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4988	0.87726	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA3	57797492	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.632000	0.90995	2.651000	0.90000	0.467000	0.42956	.	PSMA3	-	-	ENSG00000100567		0.303	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	323	0.31	1	G	NM_002788	Intron	58727739	58727739	+1	no_errors	ENST00000216455	ensembl	human	known	69_37n	splice_site	234	14.60	40	SNP	1.000	A
RALGAPB	57148	genome.wustl.edu	37	20	37182575	37182575	+	Silent	SNP	T	T	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr20:37182575T>G	ENST00000262879.6	+	22	3512	c.3228T>G	c.(3226-3228)ctT>ctG	p.L1076L	RALGAPB_ENST00000397042.3_Silent_p.L1072L|RALGAPB_ENST00000397038.1_Silent_p.L854L|RALGAPB_ENST00000397040.1_Silent_p.L1076L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1076					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1076L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAATACACCTTGAGCAACAGA	0.448																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											79.0	78.0	78.0					20																	37182575		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3228T>G	20.37:g.37182575T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L1076	ENST00000262879.6	37	c.3228	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	176	0.00	0	T	NM_020336		37182575	37182575	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	silent	160	19.90	40	SNP	0.985	G
RANBP2	5903	genome.wustl.edu	37	2	109371670	109371670	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr2:109371670G>C	ENST00000283195.6	+	17	2547	c.2421G>C	c.(2419-2421)caG>caC	p.Q807H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q807H(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGAAGATCAGAATTCTTTAC	0.338																																						dbGAP											2	Substitution - Missense(2)	breast(2)											147.0	169.0	162.0					2																	109371670		2201	4299	6500	-	-	-	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2421G>C	2.37:g.109371670G>C	ENSP00000283195:p.Gln807His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.Q807H	ENST00000283195.6	37	c.2421	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	g	13.72	2.320239	0.41096	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26518	1.73	5.8	0.893	0.19236	.	.	.	.	.	T	0.16171	0.0389	L	0.36672	1.1	0.26679	N	0.971582	B	0.25521	0.128	B	0.23275	0.045	T	0.25293	-1.0136	9	0.45353	T	0.12	-7.4262	2.2532	0.04049	0.4658:0.1197:0.2984:0.1162	.	807	P49792	RBP2_HUMAN	H	807	ENSP00000283195:Q807H	ENSP00000283195:Q807H	Q	+	3	2	RANBP2	108738102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.713000	0.25794	0.125000	0.18397	0.542000	0.68232	CAG	RANBP2	-	NULL	ENSG00000153201		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	216	0.00	0	G	NM_006267		109371670	109371670	+1	no_errors	ENST00000283195	ensembl	human	known	69_37n	missense	358	18.45	81	SNP	0.990	C
RSPH4A	345895	genome.wustl.edu	37	6	116949275	116949275	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:116949275C>G	ENST00000229554.5	+	3	1542	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.P469A	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	469					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)		p.P469A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATTGGATGCTCCCATCATAAG	0.428									Kartagener syndrome																													dbGAP											1	Substitution - Missense(1)	breast(1)											59.0	61.0	61.0					6																	116949275		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1405C>G	6.37:g.116949275C>G	ENSP00000229554:p.Pro469Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.P469A	ENST00000229554.5	37	c.1405	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838336	0.32513	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.16897	2.31;2.31	5.74	3.94	0.45596	.	0.147481	0.64402	N	0.000006	T	0.10937	0.0267	M	0.61703	1.905	0.54753	D	0.999986	B;B	0.32543	0.375;0.235	B;B	0.40444	0.329;0.19	T	0.03898	-1.0994	10	0.32370	T	0.25	-5.6313	9.5263	0.39167	0.0:0.7716:0.1486:0.0798	.	469;469	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	A	469;469;264	ENSP00000357570:P469A;ENSP00000229554:P469A	ENSP00000229554:P469A	P	+	1	0	RSPH4A	117055968	0.998000	0.40836	0.059000	0.19551	0.954000	0.61252	3.868000	0.56055	0.744000	0.32741	-0.150000	0.13652	CCC	RSPH4A	-	pfam_Radial_spoke	ENSG00000111834		0.428	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	90	0.00	0	C	NM_001010892		116949275	116949275	+1	no_errors	ENST00000229554	ensembl	human	known	69_37n	missense	220	13.67	35	SNP	0.991	G
RYR3	6263	genome.wustl.edu	37	15	34156357	34156357	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr15:34156357G>C	ENST00000389232.4	+	103	14554	c.14484G>C	c.(14482-14484)ttG>ttC	p.L4828F	RP11-3D4.2_ENST00000560268.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.L4823F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4828					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L4827F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGTATTTGATTAATAAAG	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	81.0	80.0					15																	34156357		1844	4091	5935	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14484G>C	15.37:g.34156357G>C	ENSP00000373884:p.Leu4828Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L4828F	ENST00000389232.4	37	c.14484	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004371	0.54254	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98889	-5.21	5.25	2.28	0.28536	.	0.000000	0.64402	D	0.000003	D	0.98773	0.9587	H	0.95114	3.625	0.40768	D	0.983069	D;P	0.55800	0.973;0.947	P;P	0.56343	0.736;0.796	D	0.97151	0.9831	10	0.87932	D	0	.	1.5193	0.02512	0.3818:0.1311:0.3521:0.135	.	4823;4828	Q15413-2;Q15413	.;RYR3_HUMAN	F	4828;4824	ENSP00000373884:L4828F	ENSP00000354735:L4824F	L	+	3	2	RYR3	31943649	0.554000	0.26522	0.998000	0.56505	0.994000	0.84299	-0.236000	0.09003	0.421000	0.25980	0.591000	0.81541	TTG	RYR3	-	NULL	ENSG00000198838		0.403	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	115	0.00	0	G			34156357	34156357	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	90	18.18	20	SNP	0.912	C
SCAF1	58506	genome.wustl.edu	37	19	50158041	50158042	+	Frame_Shift_Ins	INS	-	-	C	rs149487378		TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr19:50158041_50158042insC	ENST00000360565.3	+	9	3656_3657	c.3532_3533insC	c.(3532-3534)accfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGCGGTTCGACCCCCCCCACC	0.693																																						dbGAP											0										36,4184		1,34,2075						4.2	0.8			26	32,8138		0,32,4053	no	frameshift	SCAF1	NM_021228.2		1,66,6128	A1A1,A1R,RR		0.3917,0.8531,0.5488				68,12322				-	-	-	SO:0001589	frameshift_variant	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3540dupC	19.37:g.50158049_50158049dupC	ENSP00000353769:p.Thr1178fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Ins	INS	NULL	p.T1181fs	ENST00000360565.3	37	c.3532_3533	CCDS33074.1	19																																																																																			SCAF1	-	NULL	ENSG00000126461		0.693	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	37	0.00	0	-	NM_021228		50158041	50158042	+1	no_errors	ENST00000360565	ensembl	human	known	69_37n	frame_shift_ins	40	14.89	7	INS	0.839:0.934	C
SLC25A18	83733	genome.wustl.edu	37	22	18072980	18072980	+	Missense_Mutation	SNP	G	G	A	rs140365489	byFrequency	TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr22:18072980G>A	ENST00000327451.6	+	11	1464	c.926G>A	c.(925-927)cGc>cAc	p.R309H	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R309H	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	309						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)	p.R309H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		ATTGGAGAGCGCATCTTAAAG	0.542																																					Colon(118;1560 1625 18964 29606 50093)	dbGAP											1	Substitution - Missense(1)	breast(1)											139.0	136.0	137.0					22																	18072980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.926G>A	22.37:g.18072980G>A	ENSP00000329033:p.Arg309His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R309H	ENST00000327451.6	37	c.926	CCDS13744.1	22	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402493	0.25291	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.80304	-1.36;-1.36	5.22	-3.24	0.05094	.	0.938832	0.08990	N	0.864574	T	0.65048	0.2654	L	0.38531	1.155	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47071	-0.9145	10	0.15952	T	0.53	.	5.9865	0.19436	0.6332:0.0:0.219:0.1478	.	309	Q9H1K4	GHC2_HUMAN	H	309	ENSP00000329033:R309H;ENSP00000382710:R309H	ENSP00000329033:R309H	R	+	2	0	SLC25A18	16452980	0.000000	0.05858	0.008000	0.14137	0.292000	0.27327	-0.378000	0.07446	-0.260000	0.09418	0.655000	0.94253	CGC	SLC25A18	-	NULL	ENSG00000182902		0.542	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A18	HGNC	protein_coding	OTTHUMT00000316214.3	130	0.00	0	G	NM_031481		18072980	18072980	+1	no_errors	ENST00000327451	ensembl	human	known	69_37n	missense	151	12.14	21	SNP	0.000	A
SMARCA4	6597	genome.wustl.edu	37	19	11097047	11097047	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr19:11097047C>T	ENST00000429416.3	+	5	819	c.538C>T	c.(538-540)Ctc>Ttc	p.L180F	SMARCA4_ENST00000358026.2_Missense_Mutation_p.L180F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.L180F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L180F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L180F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L180F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L180F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L180F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L180F	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	180	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.|QLQ. {ECO:0000255|PROSITE- ProRule:PRU01001}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L180F(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCACCAGCTCAGAGCTCA	0.672			"""F, N, Mis"""		NSCLC																																	dbGAP		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	3	Substitution - Missense(2)|Unknown(1)	breast(2)|lung(1)											25.0	18.0	20.0					19																	11097047		2202	4298	6500	-	-	-	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.538C>T	19.37:g.11097047C>T	ENSP00000395654:p.Leu180Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L180F	ENST00000429416.3	37	c.538	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682399	0.68157	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.24;-3.24;-3.26	4.47	4.47	0.54385	Glutamine-Leucine-Glutamine, QLQ (2);	0.000000	0.64402	D	0.000002	D	0.96134	0.8740	M	0.87682	2.9	0.47949	D	0.999552	D;D;D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997;0.997;0.997	D;D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.992;0.992;0.992	D	0.95739	0.8781	10	0.87932	D	0	-34.3346	6.6443	0.22927	0.0:0.8059:0.0:0.1941	.	180;180;180;180;180;180;180	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	F	180	ENSP00000395654:L180F;ENSP00000350720:L180F;ENSP00000343896:L180F;ENSP00000445036:L180F;ENSP00000392837:L180F;ENSP00000397783:L180F;ENSP00000414727:L180F	ENSP00000343896:L180F	L	+	1	0	SMARCA4	10958047	1.000000	0.71417	0.993000	0.49108	0.943000	0.58893	2.480000	0.45206	2.315000	0.78130	0.462000	0.41574	CTC	SMARCA4	-	pfam_Gln-Leu-Gln_QLQ,smart_Gln-Leu-Gln_QLQ	ENSG00000127616		0.672	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	30	0.00	0	C	NM_003072		11097047	11097047	+1	no_errors	ENST00000358026	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	T
SMC1B	27127	genome.wustl.edu	37	22	45782877	45782877	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr22:45782877A>G	ENST00000357450.4	-	11	1780	c.1781T>C	c.(1780-1782)gTg>gCg	p.V594A	SMC1B_ENST00000404354.3_Missense_Mutation_p.V594A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	594	Flexible hinge.				meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.V594A(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GACATCAATCACCATTTTACA	0.353																																						dbGAP											2	Substitution - Missense(2)	breast(2)											170.0	162.0	164.0					22																	45782877		1884	4121	6005	-	-	-	SO:0001583	missense	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1781T>C	22.37:g.45782877A>G	ENSP00000350036:p.Val594Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.V594A	ENST00000357450.4	37	c.1781	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130402	0.56721	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.83506	-1.73;-1.73	5.43	3.3	0.37823	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.566907	0.15471	N	0.260625	T	0.78604	0.4309	N	0.21508	0.67	0.32714	N	0.511157	B;B;B	0.31153	0.001;0.31;0.024	B;P;B	0.45071	0.025;0.468;0.179	T	0.75803	-0.3189	10	0.27785	T	0.31	.	10.0643	0.42295	0.862:0.0:0.138:0.0	.	594;594;594	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	A	594	ENSP00000350036:V594A;ENSP00000385902:V594A	ENSP00000350036:V594A	V	-	2	0	SMC1B	44161541	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	4.914000	0.63348	0.348000	0.23949	0.482000	0.46254	GTG	SMC1B	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000077935		0.353	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2	114	0.00	0	A	NM_148674		45782877	45782877	-1	no_errors	ENST00000357450	ensembl	human	known	69_37n	missense	104	26.76	38	SNP	1.000	G
STAG2	10735	genome.wustl.edu	37	X	123199793	123199793	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chrX:123199793A>G	ENST00000371160.1	+	21	2383	c.2093A>G	c.(2092-2094)cAt>cGt	p.H698R	STAG2_ENST00000218089.9_Missense_Mutation_p.H698R|STAG2_ENST00000371157.3_Missense_Mutation_p.H698R|STAG2_ENST00000371144.3_Missense_Mutation_p.H698R|STAG2_ENST00000371145.3_Missense_Mutation_p.H698R|STAG2_ENST00000354548.5_Missense_Mutation_p.H629R|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	698					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.H698R(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACTGCTTTTCATAAGTAAGTT	0.299																																						dbGAP											2	Substitution - Missense(2)	breast(2)											94.0	84.0	88.0					X																	123199793		2203	4296	6499	-	-	-	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2093A>G	X.37:g.123199793A>G	ENSP00000360202:p.His698Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.H698R	ENST00000371160.1	37	c.2093	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504082	0.64410	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.048442	0.85682	D	0.000000	T	0.54935	0.1889	M	0.81239	2.535	0.80722	D	1	D;P	0.62365	0.991;0.932	D;P	0.66602	0.945;0.675	T	0.55848	-0.8076	10	0.30854	T	0.27	-0.1563	14.573	0.68224	1.0:0.0:0.0:0.0	.	698;698	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	R	698;629;698;698;698;698	ENSP00000218089:H698R;ENSP00000346555:H629R;ENSP00000360202:H698R;ENSP00000360199:H698R;ENSP00000360187:H698R;ENSP00000360186:H698R	ENSP00000218089:H698R	H	+	2	0	STAG2	123027474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.353000	0.79414	1.822000	0.53115	0.486000	0.48141	CAT	STAG2	-	superfamily_ARM-type_fold	ENSG00000101972		0.299	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	139	0.00	0	A	NM_006603		123199793	123199793	+1	no_errors	ENST00000218089	ensembl	human	known	69_37n	missense	91	24.17	29	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7578443	7578445	+	In_Frame_Del	DEL	AGA	AGA	-	rs587780069		TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr17:7578443_7578445delAGA	ENST00000269305.4	-	5	674_676	c.485_487delTCT	c.(484-489)atctac>aac	p.162_163IY>N	TP53_ENST00000359597.4_In_Frame_Del_p.162_163IY>N|TP53_ENST00000455263.2_In_Frame_Del_p.162_163IY>N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_In_Frame_Del_p.162_163IY>N|TP53_ENST00000420246.2_In_Frame_Del_p.162_163IY>N|TP53_ENST00000445888.2_In_Frame_Del_p.162_163IY>N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	162	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.I162S(7)|p.I162N(6)|p.Y163D(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69N(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.I69S(1)|p.A161fs*7(1)|p.I30N(1)|p.I162fs*19(1)|p.V157_I162delVRAMAI(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I30S(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GACTGCTTGTAGATGGCCATGGC	0.626		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	99	Substitution - Missense(66)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(5)|Substitution - coding silent(4)|Insertion - Frameshift(2)	breast(16)|haematopoietic_and_lymphoid_tissue(14)|liver(14)|lung(12)|large_intestine(6)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|prostate(1)|pancreas(1)	GRCh37	CM983887	TP53	M																																				-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.485_487delTCT	17.37:g.7578443_7578445delAGA	ENSP00000269305:p.Ile162_Tyr163delinsAsn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.IY162in_frame_delN	ENST00000269305.4	37	c.487_485	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.626	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	202	0.00	0	AGA	NM_000546		7578443	7578445	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	in_frame_del	159	22.42	50	DEL	1.000:0.976:1.000	-
TRIM38	10475	genome.wustl.edu	37	6	25966837	25966837	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:25966837C>G	ENST00000357085.3	+	3	563	c.87C>G	c.(85-87)atC>atG	p.I29M	TRIM38_ENST00000349458.3_Missense_Mutation_p.I29M	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	29					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.I29M(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGTAAGCATCAACTGTGGAC	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											96.0	93.0	94.0					6																	25966837		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.87C>G	6.37:g.25966837C>G	ENSP00000349596:p.Ile29Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R862	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I29M	ENST00000357085.3	37	c.87	CCDS4568.1	6	.	.	.	.	.	.	.	.	.	.	c	13.77	2.336551	0.41398	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.12465	2.68;2.68;2.68	4.37	1.59	0.23543	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.325251	0.22389	N	0.060705	T	0.11239	0.0274	L	0.55213	1.73	0.21984	N	0.999432	P;P	0.40332	0.713;0.713	P;P	0.55713	0.782;0.782	T	0.10823	-1.0613	10	0.87932	D	0	.	5.3588	0.16075	0.1638:0.6538:0.0:0.1824	.	29;29	B2R862;O00635	.;TRI38_HUMAN	M	29	ENSP00000443976:I29M;ENSP00000230099:I29M;ENSP00000349596:I29M	ENSP00000230099:I29M	I	+	3	3	TRIM38	26074816	0.004000	0.15560	0.052000	0.19188	0.006000	0.05464	-0.109000	0.10840	0.353000	0.24079	-0.225000	0.12378	ATC	TRIM38	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000112343		0.488	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2	344	0.00	0	C			25966837	25966837	+1	no_errors	ENST00000349458	ensembl	human	known	69_37n	missense	270	15.89	51	SNP	0.217	G
TRIM68	55128	genome.wustl.edu	37	11	4626420	4626420	+	Silent	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr11:4626420C>T	ENST00000300747.5	-	2	604	c.315G>A	c.(313-315)ctG>ctA	p.L105L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	105					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L105L(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGAACATCTTCAGCTTTTCCC	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											179.0	155.0	163.0					11																	4626420		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.315G>A	11.37:g.4626420C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L105	ENST00000300747.5	37	c.315	CCDS31356.1	11																																																																																			TRIM68	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000167333		0.527	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1	95	0.00	0	C	NM_018073		4626420	4626420	-1	no_errors	ENST00000300747	ensembl	human	known	69_37n	silent	86	14.85	15	SNP	0.001	T
TTLL5	23093	genome.wustl.edu	37	14	76147917	76147917	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr14:76147917C>G	ENST00000298832.9	+	4	416	c.211C>G	c.(211-213)Cga>Gga	p.R71G	TTLL5_ENST00000286650.5_Missense_Mutation_p.R71G|TTLL5_ENST00000556977.1_Missense_Mutation_p.R71G|TTLL5_ENST00000557636.1_Missense_Mutation_p.R71G	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	71	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.R71G(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TAAGATTGTACGAACGGACAG	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											153.0	141.0	145.0					14																	76147917		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.211C>G	14.37:g.76147917C>G	ENSP00000298832:p.Arg71Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R71G	ENST00000298832.9	37	c.211	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796891	0.70567	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.07327	3.79;3.2;3.87	5.56	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	L	0.42245	1.32	0.80722	D	1	D;D;D	0.65815	0.995;0.993;0.971	D;P;P	0.65233	0.933;0.903;0.841	T	0.00231	-1.1896	10	0.54805	T	0.06	.	13.0077	0.58715	0.4324:0.5676:0.0:0.0	.	71;71;71	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	G	71	ENSP00000450713:R71G;ENSP00000286650:R71G;ENSP00000298832:R71G	ENSP00000286650:R71G	R	+	1	2	TTLL5	75217670	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	3.612000	0.54142	0.657000	0.30906	-0.181000	0.13052	CGA	TTLL5	-	NULL	ENSG00000119685		0.343	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	144	0.00	0	C	NM_015072		76147917	76147917	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	missense	136	11.04	17	SNP	1.000	G
TUBB4B	10383	genome.wustl.edu	37	9	140137952	140137952	+	Missense_Mutation	SNP	G	G	A	rs9897		TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr9:140137952G>A	ENST00000340384.4	+	4	1430	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	428					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)	p.A428T(1)								Albendazole(DB00518)|Mebendazole(DB00643)	GTACCAGGATGCCACAGCCGA	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											94.0	93.0	93.0					9																	140137952		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.1282G>A	9.37:g.140137952G>A	ENSP00000341289:p.Ala428Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BFA2|P05217	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.A428T	ENST00000340384.4	37	c.1282	CCDS7039.1	9	.	.	.	.	.	.	.	.	.	.	G	9.167	1.020113	0.19433	.	.	ENSG00000188229	ENST00000340384	T	0.72167	-0.63	5.57	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	M	0.91612	3.225	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.76729	-0.2852	10	0.87932	D	0	.	13.1603	0.59540	0.0772:0.0:0.9228:0.0	.	428	P68371	TBB4B_HUMAN	T	428	ENSP00000341289:A428T	ENSP00000341289:A428T	A	+	1	0	TUBB2C	139257773	1.000000	0.71417	0.949000	0.38748	0.082000	0.17680	9.658000	0.98594	1.366000	0.46076	-0.136000	0.14681	GCC	TUBB4B	-	superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	ENSG00000188229		0.602	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4B	HGNC	protein_coding	OTTHUMT00000254715.1	11	0.00	0	G	NM_006088		140137952	140137952	+1	no_errors	ENST00000340384	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	A
UBR2	23304	genome.wustl.edu	37	6	42571368	42571368	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr6:42571368T>C	ENST00000372899.1	+	5	832	c.574T>C	c.(574-576)Tat>Cat	p.Y192H	UBR2_ENST00000372901.1_Missense_Mutation_p.Y192H|UBR2_ENST00000372903.2_Missense_Mutation_p.Y192H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	192					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y192H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGCAAGAACTTATAACATTTT	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	86.0	86.0					6																	42571368		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.574T>C	6.37:g.42571368T>C	ENSP00000361990:p.Tyr192His	Somatic		WXS	Illumina GAIIx	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Y192H	ENST00000372899.1	37	c.574	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485988	0.44147	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.72167	-0.63;0.37;0.37	5.58	4.4	0.53042	.	0.439588	0.24967	N	0.034175	T	0.42404	0.1201	L	0.39898	1.24	0.80722	D	1	B;B	0.18968	0.032;0.014	B;B	0.17098	0.017;0.016	T	0.33624	-0.9861	10	0.15499	T	0.54	-7.0314	12.8486	0.57844	0.0:0.0:0.1363:0.8637	.	192;192	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	H	192	ENSP00000361994:Y192H;ENSP00000361990:Y192H;ENSP00000361992:Y192H	ENSP00000361990:Y192H	Y	+	1	0	UBR2	42679346	1.000000	0.71417	0.124000	0.21820	0.990000	0.78478	7.428000	0.80296	0.929000	0.37192	0.529000	0.55759	TAT	UBR2	-	NULL	ENSG00000024048		0.318	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	117	0.00	0	T	NM_015255		42571368	42571368	+1	no_errors	ENST00000372899	ensembl	human	known	69_37n	missense	145	11.59	19	SNP	0.862	C
USH2A	7399	genome.wustl.edu	37	1	216371889	216371889	+	Silent	SNP	C	C	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:216371889C>T	ENST00000307340.3	-	18	4235	c.3849G>A	c.(3847-3849)ctG>ctA	p.L1283L	USH2A_ENST00000366942.3_Silent_p.L1283L|USH2A_ENST00000366943.2_Silent_p.L1283L|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1283	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1283L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTAGATCTCAGTCTTCTCA	0.378										HNSCC(13;0.011)																												dbGAP											1	Substitution - coding silent(1)	breast(1)											81.0	80.0	81.0					1																	216371889		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3849G>A	1.37:g.216371889C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L1283	ENST00000307340.3	37	c.3849	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	103	0.00	0	C	NM_007123		216371889	216371889	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	silent	215	12.24	30	SNP	0.001	T
WDR26	80232	genome.wustl.edu	37	1	224592213	224592213	+	Silent	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:224592213A>G	ENST00000414423.2	-	8	1411	c.1218T>C	c.(1216-1218)taT>taC	p.Y406Y	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Silent_p.Y259Y	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	406						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y259Y(1)|p.Y406Y(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TCCATGCAATATAAGAAACGC	0.418																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											129.0	118.0	122.0					1																	224592213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1218T>C	1.37:g.224592213A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y40H	ENST00000414423.2	37	c.118	CCDS31037.2	1	.	.	.	.	.	.	.	.	.	.	A	9.490	1.100454	0.20552	.	.	ENSG00000162923	ENST00000480676	T	0.59638	0.25	4.65	-4.91	0.03085	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51849	-0.8653	7	0.15499	T	0.54	.	18.2797	0.90094	0.2788:0.0:0.7212:0.0	.	.	.	.	H	40	ENSP00000424784:Y40H	ENSP00000424784:Y40H	Y	-	1	0	WDR26	222658836	0.242000	0.23868	0.909000	0.35828	0.984000	0.73092	-0.320000	0.08028	-1.182000	0.02727	-0.425000	0.05940	TAT	WDR26	-	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162923		0.418	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	148	0.00	0	A	NM_025160		224592213	224592213	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000480676	ensembl	human	known	69_37n	missense	185	25.10	62	SNP	0.899	G
CFAP44	55779	genome.wustl.edu	37	3	113049481	113049481	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr3:113049481A>G	ENST00000393845.2	-	26	3716	c.3650T>C	c.(3649-3651)aTt>aCt	p.I1217T	WDR52_ENST00000308346.6_5'Flank	NM_001164496.1	NP_001157968.1												p.I365T(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAGAGAGAGAATGCACTTGTT	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	38.0	43.0					3																	113049481		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000393845.2:c.3650T>C	3.37:g.113049481A>G	ENSP00000377428:p.Ile1217Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I1217T	ENST00000393845.2	37	c.3650	CCDS54624.1	3	.	.	.	.	.	.	.	.	.	.	A	14.92	2.678925	0.47886	.	.	ENSG00000206530	ENST00000393845	T	0.13420	2.59	5.5	5.5	0.81552	.	3.443390	0.01123	U	0.005831	T	0.39682	0.1087	M	0.64997	1.995	0.80722	D	1	D	0.62365	0.991	P	0.59595	0.86	T	0.00220	-1.1906	10	0.87932	D	0	-13.763	15.588	0.76502	1.0:0.0:0.0:0.0	.	1217	Q96MT7-2	.	T	1217	ENSP00000377428:I1217T	ENSP00000377428:I1217T	I	-	2	0	WDR52	114532171	1.000000	0.71417	0.645000	0.29479	0.134000	0.20937	6.575000	0.74018	2.081000	0.62600	0.459000	0.35465	ATT	WDR52	-	NULL	ENSG00000206530		0.398	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		68	0.00	0	A			113049481	113049481	-1	no_errors	ENST00000393845	ensembl	human	known	69_37n	missense	111	14.50	19	SNP	0.991	G
WDR7	23335	genome.wustl.edu	37	18	54385213	54385213	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr18:54385213A>G	ENST00000254442.3	+	13	1808	c.1597A>G	c.(1597-1599)Atc>Gtc	p.I533V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I533V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	533					hematopoietic progenitor cell differentiation (GO:0002244)			p.I533V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACAGCACTGCATCTGCTCTGT	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											123.0	113.0	116.0					18																	54385213		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1597A>G	18.37:g.54385213A>G	ENSP00000254442:p.Ile533Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I533V	ENST00000254442.3	37	c.1597	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736272	0.30774	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.65364	-0.15;-0.15	5.59	0.266	0.15617	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.227212	0.45867	N	0.000338	T	0.39733	0.1089	N	0.12961	0.28	0.41646	D	0.989108	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.07520	-1.0768	10	0.28530	T	0.3	.	9.9662	0.41725	0.6194:0.0:0.3806:0.0	.	533;533	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	533	ENSP00000254442:I533V;ENSP00000350187:I533V	ENSP00000254442:I533V	I	+	1	0	WDR7	52536211	0.606000	0.26949	0.978000	0.43139	0.993000	0.82548	0.993000	0.29680	-0.170000	0.10816	0.533000	0.62120	ATC	WDR7	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.348	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	74	0.00	0	A			54385213	54385213	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	missense	170	15.84	32	SNP	0.993	G
WHAMMP2	440253	genome.wustl.edu	37	15	28989968	28989968	+	RNA	SNP	G	G	T	rs200083792	byFrequency	TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr15:28989968G>T	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		GAATGGACCAGACGGGCTGGA	0.408																																						dbGAP											0																																										-	-	-			0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28989968G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.408	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	22	0.00	0	G	NR_026589		28989968	28989968	+1	no_errors	ENST00000508764	ensembl	human	putative	69_37n	rna	38	22.45	11	SNP	0.204	T
WNT9A	7483	genome.wustl.edu	37	1	228111953	228111954	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr1:228111953_228111954insC	ENST00000272164.5	-	3	510_511	c.500_501insG	c.(499-501)ggcfs	p.G167fs		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	167					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACTG	0.629																																						dbGAP											2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.501dupG	1.37:g.228111960_228111960dupC	ENSP00000272164:p.Gly167fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Frame_Shift_Ins	INS	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt14	p.C168fs	ENST00000272164.5	37	c.501_500	CCDS31045.1	1																																																																																			WNT9A	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000143816		0.629	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	HGNC	protein_coding	OTTHUMT00000091646.1	20	0.00	0	-	NM_003395		228111953	228111954	-1	no_errors	ENST00000272164	ensembl	human	known	69_37n	frame_shift_ins	24	11.11	3	INS	1.000:1.000	C
ZNF217	7764	genome.wustl.edu	37	20	52192934	52192934	+	Missense_Mutation	SNP	G	G	A	rs367766581		TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr20:52192934G>A	ENST00000371471.2	-	4	2794	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.A790V			O75362	ZN217_HUMAN	zinc finger protein 217	790					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A790V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTTCCCCTTCGCAGATGGCAG	0.577																																						dbGAP											2	Substitution - Missense(2)	breast(2)											44.0	44.0	44.0					20																	52192934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2369C>T	20.37:g.52192934G>A	ENSP00000360526:p.Ala790Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A790V	ENST00000371471.2	37	c.2369	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758310	0.31137	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08458	3.09;3.09	5.45	3.16	0.36331	.	0.825546	0.11165	N	0.592653	T	0.03564	0.0102	N	0.02011	-0.69	0.23975	N	0.996293	B	0.17852	0.024	B	0.09377	0.004	T	0.41910	-0.9482	10	0.59425	D	0.04	-43.6146	7.6558	0.28375	0.0:0.072:0.2786:0.6493	.	790	O75362	ZN217_HUMAN	V	790	ENSP00000360526:A790V;ENSP00000304308:A790V	ENSP00000304308:A790V	A	-	2	0	ZNF217	51626341	0.998000	0.40836	0.304000	0.25085	0.041000	0.13682	1.382000	0.34374	0.359000	0.24239	-0.410000	0.06199	GCG	ZNF217	-	NULL	ENSG00000171940		0.577	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	57	0.00	0	G	NM_006526		52192934	52192934	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	missense	82	16.33	16	SNP	0.937	A
ZNF479	90827	genome.wustl.edu	37	7	57187675	57187675	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chr7:57187675G>T	ENST00000331162.4	-	5	1717	c.1447C>A	c.(1447-1449)Cat>Aat	p.H483N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H483N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTCTCTTATGTTGCATAAGG	0.403																																						dbGAP											1	Substitution - Missense(1)	breast(1)											27.0	27.0	27.0					7																	57187675		1731	3756	5487	-	-	-	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1447C>A	7.37:g.57187675G>T	ENSP00000333776:p.His483Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H483N	ENST00000331162.4	37	c.1447	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	g	14.07	2.424758	0.43020	.	.	ENSG00000185177	ENST00000331162	D	0.86865	-2.18	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.91848	0.7420	H	0.95611	3.695	0.30384	N	0.781634	P	0.51449	0.945	P	0.50231	0.635	D	0.87902	0.2691	9	0.87932	D	0	.	7.4593	0.27285	0.0:0.0:1.0:0.0	.	483	Q96JC4	ZN479_HUMAN	N	483	ENSP00000333776:H483N	ENSP00000333776:H483N	H	-	1	0	ZNF479	57191617	1.000000	0.71417	0.004000	0.12327	0.004000	0.04260	6.496000	0.73670	0.446000	0.26666	0.449000	0.29647	CAT	ZNF479	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185177		0.403	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	34	0.00	0	G	XM_291202		57187675	57187675	-1	no_errors	ENST00000331162	ensembl	human	known	69_37n	missense	73	13.95	12	SNP	0.982	T
ZNF674	641339	genome.wustl.edu	37	X	46359485	46359485	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chrX:46359485G>C	ENST00000523374.1	-	6	1749	c.1539C>G	c.(1537-1539)atC>atG	p.I513M	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Missense_Mutation_p.I507M	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TCTGATGTTTGATGAGAGTTG	0.398																																						dbGAP											0													71.0	67.0	68.0					X																	46359485		2176	4279	6455	-	-	-	SO:0001583	missense	0			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1539C>G	X.37:g.46359485G>C	ENSP00000429148:p.Ile513Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE2|E9PHQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I513M	ENST00000523374.1	37	c.1539	CCDS48099.1	X	.	.	.	.	.	.	.	.	.	.	G	1.410	-0.575856	0.03882	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.07567	3.18;3.18	2.33	-1.71	0.08133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12860	0.0312	L	0.35542	1.07	0.09310	N	1	D;D	0.89917	0.995;1.0	D;D	0.79108	0.917;0.992	T	0.18493	-1.0335	9	0.62326	D	0.03	.	2.3962	0.04390	0.2953:0.0:0.2916:0.4131	.	507;513	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	M	513;507	ENSP00000429148:I513M;ENSP00000428248:I507M	ENSP00000428248:I507M	I	-	3	3	ZNF674	46244429	0.000000	0.05858	0.968000	0.41197	0.223000	0.24884	-1.723000	0.01866	-0.487000	0.06735	-1.683000	0.00735	ATC	ZNF674	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251192		0.398	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	209	0.00	0	G	NM_001039891		46359485	46359485	-1	no_errors	ENST00000523374	ensembl	human	known	69_37n	missense	190	24.51	62	SNP	0.027	C
ZNF674	641339	genome.wustl.edu	37	X	46359952	46359952	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0EQ-01A-11W-A050-09	TCGA-A2-A0EQ-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2c449ea9-c3ff-4726-8566-5933e2b7056d	282ea476-ac8e-4aa3-ac9e-49fced7a4eb2	g.chrX:46359952G>C	ENST00000523374.1	-	6	1282	c.1072C>G	c.(1072-1074)Cag>Gag	p.Q358E	ZNF674_ENST00000518795.1_5'Flank|ZNF674_ENST00000414387.2_Missense_Mutation_p.Q352E	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						TCACTGCACTGAGGTTTCTCA	0.368																																						dbGAP											0													89.0	88.0	88.0					X																	46359952		1933	4141	6074	-	-	-	SO:0001583	missense	0			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1072C>G	X.37:g.46359952G>C	ENSP00000429148:p.Gln358Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DHE2|E9PHQ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q358E	ENST00000523374.1	37	c.1072	CCDS48099.1	X	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.180371	0.00001	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.00760	5.73;5.73	2.67	-1.57	0.08506	.	.	.	.	.	T	0.00384	0.0012	N	0.05467	-0.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46034	-0.9220	9	0.02654	T	1	.	0.1523	0.00094	0.3468:0.2306:0.1711:0.2516	.	352;358	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	E	358;352	ENSP00000429148:Q358E;ENSP00000428248:Q352E	ENSP00000428248:Q352E	Q	-	1	0	ZNF674	46244896	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.073000	0.11468	-0.408000	0.07565	-1.388000	0.01159	CAG	ZNF674	-	NULL	ENSG00000251192		0.368	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF674	HGNC	protein_coding	OTTHUMT00000056357.2	137	0.00	0	G	NM_001039891		46359952	46359952	-1	no_errors	ENST00000523374	ensembl	human	known	69_37n	missense	106	28.38	42	SNP	0.003	C
