#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_ORegAnno_bin	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
ABCC2	1244	genome.wustl.edu	37	10	101567986	101567986	+	Splice_Site	SNP	G	G	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr10:101567986G>C	ENST00000370449.4	+	13	1928	c.1815G>C	c.(1813-1815)caG>caC	p.Q605H		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	605	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CCATGCTCCAGGTAGGTCGGC	0.478																																						dbGAP											0													188.0	167.0	174.0					10																	101567986		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1815+1G>C	10.37:g.101567986G>C			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.Q605H	ENST00000370449.4	37	c.1815	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421681	0.83559	.	.	ENSG00000023839	ENST00000370449	T	0.41758	0.99	5.63	5.63	0.86233	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.111503	0.64402	D	0.000006	T	0.77922	0.4203	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85343	0.1097	10	0.87932	D	0	-13.464	19.671	0.95911	0.0:0.0:1.0:0.0	.	605	Q92887	MRP2_HUMAN	H	605	ENSP00000359478:Q605H	ENSP00000359478:Q605H	Q	+	3	2	ABCC2	101557976	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.359000	0.66074	2.657000	0.90304	0.491000	0.48974	CAG	ABCC2	-	superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.478	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	148	0.00	0	G	NM_000392	Missense_Mutation	101567986	101567986	+1	no_errors	ENST00000370449	ensembl	human	known	69_37n	missense	29	21.05	8	SNP	1.000	C
ATXN2L	11273	genome.wustl.edu	37	16	28844517	28844517	+	Silent	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr16:28844517G>A	ENST00000336783.4	+	14	1964	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	ATXN2L_ENST00000325215.6_Silent_p.K599K|ATXN2L_ENST00000382686.4_Silent_p.K599K|ATXN2L_ENST00000570200.1_Silent_p.K599K|ATXN2L_ENST00000565845.1_3'UTR|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Silent_p.K605K|ATXN2L_ENST00000395547.2_Silent_p.K599K|ATXN2L_ENST00000340394.8_Silent_p.K599K	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	599					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCTCCTCCAAGACAGAGTCCG	0.567																																						dbGAP											0													90.0	91.0	91.0					16																	28844517		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1797G>A	16.37:g.28844517G>A			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.K599	ENST00000336783.4	37	c.1797	CCDS10641.1	16																																																																																			ATXN2L	-	NULL	ENSG00000168488		0.567	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	77	0.00	0	G	NM_007245		28844517	28844517	+1	no_errors	ENST00000395547	ensembl	human	known	69_37n	silent	32	13.51	5	SNP	1.000	A
BTAF1	9044	genome.wustl.edu	37	10	93768685	93768685	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr10:93768685C>G	ENST00000265990.6	+	27	4221	c.3913C>G	c.(3913-3915)Cta>Gta	p.L1305V	BTAF1_ENST00000544642.1_Missense_Mutation_p.L133V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1305	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CATCTGCATTCTAGCAGGAGA	0.328																																						dbGAP											0													83.0	84.0	84.0					10																	93768685		2202	4300	6502	-	-	-	SO:0001583	missense	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3913C>G	10.37:g.93768685C>G	ENSP00000265990:p.Leu1305Val		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1305V	ENST00000265990.6	37	c.3913	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147331	0.21288	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	D;D	0.93763	-3.28;-3.28	5.19	3.28	0.37604	DEAD-like helicase (2);Armadillo-like helical (1);SNF2-related (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.91405	0.7288	L	0.42744	1.35	0.58432	D	0.999996	P	0.41366	0.747	P	0.47786	0.557	D	0.87736	0.2582	10	0.32370	T	0.25	-9.5203	10.5963	0.45341	0.0:0.8736:0.0:0.1264	.	1305	O14981	BTAF1_HUMAN	V	1305;133;155	ENSP00000265990:L1305V;ENSP00000439924:L133V	ENSP00000265990:L1305V	L	+	1	2	BTAF1	93758665	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	5.800000	0.69108	0.655000	0.30866	0.650000	0.86243	CTA	BTAF1	-	pfam_SNF2_N,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000095564		0.328	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	134	0.00	0	C	NM_003972		93768685	93768685	+1	no_errors	ENST00000265990	ensembl	human	known	69_37n	missense	55	21.43	15	SNP	1.000	G
CATIP	375307	genome.wustl.edu	37	2	219232206	219232206	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr2:219232206G>A	ENST00000289388.3	+	9	915	c.886G>A	c.(886-888)Gat>Aat	p.D296N	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		296					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGGAGGAGGATATGGAGCT	0.567																																						dbGAP											0													122.0	124.0	123.0					2																	219232206		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000289388.3:c.886G>A	2.37:g.219232206G>A	ENSP00000289388:p.Asp296Asn			Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D296N	ENST00000289388.3	37	c.886	CCDS2414.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149536	0.78001	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.13	4.13	0.48395	.	0.102660	0.64402	D	0.000005	T	0.75384	0.3842	M	0.62723	1.935	0.48452	D	0.999652	D	0.71674	0.998	D	0.68943	0.961	T	0.79162	-0.1917	9	0.87932	D	0	-13.5489	15.6628	0.77203	0.0:0.0:1.0:0.0	.	296	Q7Z7H3	CB062_HUMAN	N	296	.	ENSP00000289388:D296N	D	+	1	0	C2orf62	218940450	1.000000	0.71417	0.911000	0.35937	0.478000	0.33099	7.069000	0.76755	2.292000	0.77174	0.591000	0.81541	GAT	C2orf62	-	NULL	ENSG00000158428		0.567	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	111	0.00	0	G			219232206	219232206	+1	no_errors	ENST00000289388	ensembl	human	known	69_37n	missense	23	23.33	7	SNP	0.993	A
ZGRF1	55345	genome.wustl.edu	37	4	113468473	113468473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr4:113468473C>A	ENST00000505019.1	-	24	5691	c.5566G>T	c.(5566-5568)Gaa>Taa	p.E1856*	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1856						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGAGTTTGTTCCAATCCATTT	0.378																																						dbGAP											0													103.0	92.0	96.0					4																	113468473		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0																														ENST00000505019.1:c.5566G>T	4.37:g.113468473C>A	ENSP00000424737:p.Glu1856*		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF	p.E1856*	ENST00000505019.1	37	c.5566		4	.	.	.	.	.	.	.	.	.	.	C	46	12.662757	0.99686	.	.	ENSG00000138658	ENST00000505019	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.3225	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	X	1856	.	ENSP00000424737:E1856X	E	-	1	0	C4orf21	113687922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.066000	0.64351	2.805000	0.96524	0.655000	0.94253	GAA	C4orf21	-	NULL	ENSG00000138658		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	104	0.00	0	C			113468473	113468473	-1	no_errors	ENST00000505019	ensembl	human	known	69_37n	nonsense	35	16.28	7	SNP	1.000	A
CCNA2	890	genome.wustl.edu	37	4	122743651	122743651	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr4:122743651G>A	ENST00000274026.5	-	2	667	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	122					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCATCTTCACGCTCTATTTTT	0.423																																						dbGAP											0													111.0	107.0	108.0					4																	122743651		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.364C>T	4.37:g.122743651G>A	ENSP00000274026:p.Arg122Cys		A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R122C	ENST00000274026.5	37	c.364	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	G	5.414	0.261521	0.10239	.	.	ENSG00000145386	ENST00000274026	T	0.14640	2.49	5.5	-4.47	0.03525	.	2.021530	0.01491	N	0.017064	T	0.03651	0.0104	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	10	0.44086	T	0.13	.	4.4655	0.11687	0.3435:0.1001:0.4493:0.1071	.	122	P20248	CCNA2_HUMAN	C	122	ENSP00000274026:R122C	ENSP00000274026:R122C	R	-	1	0	CCNA2	122963101	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.738000	0.04871	-0.626000	0.05596	-0.140000	0.14226	CGT	CCNA2	-	pirsf_Cyclin_A/B/D/E	ENSG00000145386		0.423	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	242	0.00	0	G	NM_001237		122743651	122743651	-1	no_errors	ENST00000274026	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	0.000	A
CDC25B	994	genome.wustl.edu	37	20	3783790	3783790	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr20:3783790C>G	ENST00000245960.5	+	13	1990	c.1293C>G	c.(1291-1293)atC>atG	p.I431M	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.I340M|CDC25B_ENST00000340833.4_Missense_Mutation_p.I390M|CDC25B_ENST00000344256.6_Missense_Mutation_p.I367M|CDC25B_ENST00000439880.2_Missense_Mutation_p.I417M	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	431	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCAGCAACATCGTGGATAAGT	0.557																																						dbGAP											0													93.0	80.0	84.0					20																	3783790		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1293C>G	20.37:g.3783790C>G	ENSP00000245960:p.Ile431Met		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.I431M	ENST00000245960.5	37	c.1293	CCDS13067.1	20	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981199	0.34942	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.86	0.566	0.17317	Rhodanese-like (4);	0.231585	0.38492	N	0.001674	T	0.13756	0.0333	N	0.14661	0.345	0.31118	N	0.709139	B;B;B;B;B;B;B	0.27140	0.103;0.103;0.103;0.012;0.047;0.047;0.169	B;B;B;B;B;B;B	0.22152	0.038;0.026;0.038;0.026;0.015;0.015;0.026	T	0.09079	-1.0691	10	0.36615	T	0.2	-29.746	5.4564	0.16592	0.0:0.5225:0.1423:0.3352	.	340;353;367;319;390;417;431	B4DQZ3;B4DRC3;B4DIG0;B3KS38;P30305-3;P30305-2;P30305	.;.;.;.;.;.;MPIP2_HUMAN	M	367;340;431;417;390	ENSP00000339125:I367M;ENSP00000368918:I340M;ENSP00000245960:I431M;ENSP00000405972:I417M;ENSP00000339170:I390M	ENSP00000245960:I431M	I	+	3	3	CDC25B	3731790	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-1.901000	0.01597	0.203000	0.20529	0.561000	0.74099	ATC	CDC25B	-	superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	ENSG00000101224		0.557	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	HGNC	protein_coding	OTTHUMT00000077779.2	113	0.88	1	C	NM_021874		3783790	3783790	+1	no_errors	ENST00000245960	ensembl	human	known	69_37n	missense	27	32.50	13	SNP	0.992	G
CLTCL1	8218	genome.wustl.edu	37	22	19220950	19220950	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr22:19220950C>A	ENST00000263200.10	-	8	1435	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D455Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D455Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	455	Binding site for the uncoating ATPase, involved in lattice disassembly. {ECO:0000255}.|Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTACCTTATCTTCTTTCAGC	0.512			T	?	ALCL																																	dbGAP		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													48.0	49.0	49.0					22																	19220950		1975	4131	6106	-	-	-	SO:0001583	missense	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1363G>T	22.37:g.19220950C>A	ENSP00000445677:p.Asp455Tyr		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D455Y	ENST00000263200.10	37	c.1363	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535009	0.64972	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.49139	0.79;0.79;0.79	3.83	1.58	0.23477	Armadillo-type fold (2);	0.135216	0.47455	D	0.000225	T	0.68659	0.3025	M	0.89601	3.045	0.58432	D	0.999992	D;D	0.71674	0.998;0.997	D;D	0.71870	0.975;0.943	T	0.70249	-0.4924	10	0.87932	D	0	-6.7752	8.7313	0.34501	0.0:0.7614:0.152:0.0866	.	455;455	P53675-2;P53675	.;CLH2_HUMAN	Y	455	ENSP00000439662:D455Y;ENSP00000445677:D455Y;ENSP00000441158:D455Y	ENSP00000445677:D455Y	D	-	1	0	CLTCL1	17600950	1.000000	0.71417	0.990000	0.47175	0.893000	0.52053	6.850000	0.75420	0.351000	0.24027	0.591000	0.81541	GAT	CLTCL1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.512	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	86	0.00	0	C	NM_007098		19220950	19220950	-1	no_errors	ENST00000263200	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	A
COL12A1	1303	genome.wustl.edu	37	6	75857512	75857512	+	Silent	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr6:75857512C>G	ENST00000322507.8	-	23	4605	c.4296G>C	c.(4294-4296)gtG>gtC	p.V1432V	COL12A1_ENST00000483888.2_Silent_p.V1432V|COL12A1_ENST00000416123.2_Silent_p.V1432V|COL12A1_ENST00000345356.6_Silent_p.V268V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1432	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCATTCGACTCACATAAAACT	0.368																																						dbGAP											0													149.0	138.0	141.0					6																	75857512		1841	4089	5930	-	-	-	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4296G>C	6.37:g.75857512C>G			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E174Q	ENST00000322507.8	37	c.520	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	0.622	-0.820818	0.02755	.	.	ENSG00000111799	ENST00000419671	.	.	.	4.51	3.62	0.41486	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25012	-1.0144	4	.	.	.	.	3.5803	0.07950	0.1612:0.4331:0.3133:0.0925	.	.	.	.	Q	174	.	.	E	-	1	0	COL12A1	75914232	0.967000	0.33354	0.999000	0.59377	0.279000	0.26890	0.063000	0.14410	0.988000	0.38734	-0.282000	0.10007	GAG	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	197	0.00	0	C	NM_004370		75857512	75857512	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000419671	ensembl	human	novel	69_37n	missense	55	25.68	19	SNP	1.000	G
ADAP1	11033	genome.wustl.edu	37	7	966263	966263	+	Silent	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr7:966263C>T	ENST00000265846.5	-	3	450	c.231G>A	c.(229-231)ggG>ggA	p.G77G	ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Silent_p.G88G|ADAP1_ENST00000449296.2_Silent_p.G5G	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	77	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CGGCGTCGTTCCCGTGGGAGG	0.662																																						dbGAP											0													56.0	53.0	54.0					7																	966263		2139	4191	6330	-	-	-	SO:0001819	synonymous_variant	0			AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.231G>A	7.37:g.966263C>T			A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	pfam_CHCH,superfamily_MTCP1	p.E115K	ENST00000265846.5	37	c.343	CCDS5318.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.368|6.368	0.435972|0.435972	0.12104|0.12104	.|.	.|.	ENSG00000105963|ENSG00000105963	ENST00000454383|ENST00000446141;ENST00000453823	.|T;T	.|0.69806	.|-0.43;-0.43	3.56|3.56	0.648|0.648	0.17801|0.17801	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.70718|0.70718	0.3256|0.3256	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70842|0.70842	-0.4762|-0.4762	4|7	.|0.87932	.|D	.|0	-37.293|-37.293	9.1098|9.1098	0.36720|0.36720	0.0:0.6002:0.0:0.3998|0.0:0.6002:0.0:0.3998	.|.	.|.	.|.	.|.	K|E	18|60;20	.|ENSP00000414436:G60E;ENSP00000416545:G20E	.|ENSP00000414436:G60E	E|G	-|-	1|2	0|0	ADAP1|ADAP1	932789|932789	0.243000|0.243000	0.23878|0.23878	0.844000|0.844000	0.33320|0.33320	0.046000|0.046000	0.14306|0.14306	-0.762000|-0.762000	0.04745|0.04745	0.302000|0.302000	0.22762|0.22762	0.462000|0.462000	0.41574|0.41574	GAA|GGA	COX19	-	NULL	ENSG00000240230		0.662	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX19	HGNC	protein_coding	OTTHUMT00000059701.2	113	0.00	0	C	NM_006869		966263	966263	-1	no_errors	ENST00000457254	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.996	T
CR1	1378	genome.wustl.edu	37	1	207760857	207760857	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr1:207760857C>G	ENST00000367049.4	+	34	5657	c.5657C>G	c.(5656-5658)tCt>tGt	p.S1886C	CR1_ENST00000400960.2_Missense_Mutation_p.S1436C|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.S1436C|CR1_ENST00000367051.1_Missense_Mutation_p.S1436C|CR1_ENST00000367052.1_Missense_Mutation_p.S1436C|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1436	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAAATGTTCTCTATCTCCTGC	0.438																																						dbGAP											0													132.0	124.0	126.0					1																	207760857		1848	4088	5936	-	-	-	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5657C>G	1.37:g.207760857C>G	ENSP00000356016:p.Ser1886Cys		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S1886C	ENST00000367049.4	37	c.5657	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128690	0.56721	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	3.29	3.29	0.37713	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80994	0.4731	M	0.89601	3.045	0.25166	N	0.990318	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.69468	-0.5137	9	0.87932	D	0	.	10.3556	0.43962	0.0:1.0:0.0:0.0	.	1436;1436;1886	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	C	1436;1436;1436;1436;986;1886	ENSP00000356019:S1436C;ENSP00000356018:S1436C;ENSP00000356020:S1436C;ENSP00000383744:S1436C;ENSP00000436139:S986C;ENSP00000356016:S1886C	ENSP00000356016:S1886C	S	+	2	0	CR1	205827480	0.990000	0.36364	1.000000	0.80357	0.889000	0.51656	0.479000	0.22228	2.108000	0.64289	0.655000	0.94253	TCT	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.438	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	156	0.00	0	C	NM_000573		207760857	207760857	+1	no_errors	ENST00000367049	ensembl	human	known	69_37n	missense	84	12.50	12	SNP	1.000	G
DLG5	9231	genome.wustl.edu	37	10	79595622	79595622	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr10:79595622C>T	ENST00000372391.2	-	8	1501	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	499					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCACTGCTTTCGAAGGATTTC	0.597																																						dbGAP											0													116.0	99.0	105.0					10																	79595622		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1496G>A	10.37:g.79595622C>T	ENSP00000361467:p.Arg499Gln		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R499Q	ENST00000372391.2	37	c.1496	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	35	5.587910	0.96590	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.06142	3.34;3.4	5.8	5.8	0.92144	.	0.000000	0.31648	N	0.007282	T	0.26521	0.0648	M	0.65975	2.015	0.43588	D	0.99593	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.99	T	0.00066	-1.2144	10	0.62326	D	0.03	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	389;499;499	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	Q	499	ENSP00000361467:R499Q;ENSP00000361464:R499Q	ENSP00000361464:R499Q	R	-	2	0	DLG5	79265628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.735000	0.93741	0.655000	0.94253	CGA	DLG5	-	NULL	ENSG00000151208		0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	203	0.49	1	C			79595622	79595622	-1	no_errors	ENST00000372391	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2211749	2211749	+	Splice_Site	SNP	G	G	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr19:2211749G>T	ENST00000398665.3	+	16	1501		c.e16-1		AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCTTCCCAGAGTCCTTCAA	0.602																																						dbGAP											0													71.0	68.0	69.0					19																	2211749		2031	4205	6236	-	-	-	SO:0001630	splice_region_variant	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1466-1G>T	19.37:g.2211749G>T			O60379|Q96JL1	Splice_Site	SNP	-	e16-1	ENST00000398665.3	37	c.1466-1	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698498	0.48307	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000440640	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9555	0.86258	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOT1L	2162749	1.000000	0.71417	0.992000	0.48379	0.337000	0.28794	8.544000	0.90654	2.228000	0.72767	0.561000	0.74099	.	DOT1L	-	-	ENSG00000104885		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	153	0.00	0	G	NM_032482	Intron	2211749	2211749	+1	no_errors	ENST00000398665	ensembl	human	known	69_37n	splice_site	6	68.42	13	SNP	1.000	T
DZANK1	55184	genome.wustl.edu	37	20	18377116	18377116	+	Splice_Site	SNP	C	C	T	rs141536016	byFrequency	TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr20:18377116C>T	ENST00000358866.6	-	14	1633	c.1611G>A	c.(1609-1611)aaG>aaA	p.K537K	DZANK1_ENST00000329494.5_Splice_Site_p.K539K|DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000262547.5_Splice_Site_p.K537K|DZANK1_ENST00000357236.4_Splice_Site_p.K423K			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	537							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						GCTTACTCACCTTGTTTGAGA	0.353													C|||	4	0.000798722	0.0	0.0	5008	,	,		19578	0.004		0.0	False		,,,				2504	0.0					dbGAP											0													132.0	124.0	126.0					20																	18377116		1861	4095	5956	-	-	-	SO:0001630	splice_region_variant	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1611+1G>A	20.37:g.18377116C>T			B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R336K	ENST00000358866.6	37	c.1007	CCDS46582.1	20	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	11.67	1.707175	0.30232	.	.	ENSG00000089091	ENST00000358866	.	.	.	4.99	0.895	0.19247	.	.	.	.	.	T	0.49287	0.1548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45600	-0.9250	4	.	.	.	-23.2258	9.4976	0.38997	0.0:0.7175:0.0:0.2825	.	.	.	.	K	336	.	.	R	-	2	0	C20orf12	18325116	1.000000	0.71417	0.972000	0.41901	0.958000	0.62258	1.692000	0.37731	0.008000	0.14787	0.655000	0.94253	AGA	DZANK1	-	NULL	ENSG00000089091		0.353	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1	172	0.00	0	C	NM_001099407	Silent	18377116	18377116	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000358866	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	1.000	T
SPATA31A2	642265	genome.wustl.edu	37	9	39887042	39887042	+	Nonsense_Mutation	SNP	C	C	A	rs587675538		TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr9:39887042C>A	ENST00000456183.2	+	3	313	c.284C>A	c.(283-285)tCg>tAg	p.S95*		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	95					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGAGACTTCGGACCTGCTT	0.627																																						dbGAP											0													71.0	76.0	74.0					9																	39887042		1837	4051	5888	-	-	-	SO:0001587	stop_gained	0					9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A2"""	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.284C>A	9.37:g.39887042C>A	ENSP00000406957:p.Ser95*			Nonsense_Mutation	SNP	NULL	p.S95*	ENST00000456183.2	37	c.284	CCDS43809.1	9	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420736	0.25639	.	.	ENSG00000204848	ENST00000456183	.	.	.	1.15	-2.3	0.06785	.	3.286340	0.00937	N	0.002794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	0.2134	0.00159	0.3308:0.2052:0.257:0.207	.	.	.	.	X	95	.	ENSP00000406957:S95X	S	+	2	0	FAM75A2	39877042	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.636000	0.00205	-1.562000	0.01682	-3.520000	0.00032	TCG	FAM75A2	-	NULL	ENSG00000204848		0.627	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75A2	HGNC	protein_coding	OTTHUMT00000037739.1	392	0.00	0	C	NM_001040065		39887042	39887042	+1	no_errors	ENST00000456183	ensembl	human	known	69_37n	nonsense	55	15.38	10	SNP	0.000	A
FLNA	2316	genome.wustl.edu	37	X	153580297	153580297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chrX:153580297delG	ENST00000369850.3	-	42	7098	c.6862delC	c.(6862-6864)cgcfs	p.R2288fs	FLNA_ENST00000369856.3_Frame_Shift_Del_p.R421fs|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000422373.1_Frame_Shift_Del_p.R2280fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.R2248fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.R2280fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2288					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGTCCTTGCGGTCCTCAAAA	0.617																																						dbGAP											0													50.0	52.0	52.0					X																	153580297		1951	4149	6100	-	-	-	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6862delC	X.37:g.153580297delG	ENSP00000358866:p.Arg2288fs		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2288fs	ENST00000369850.3	37	c.6862	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	104	0.00	0	G			153580297	153580297	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
FSHR	2492	genome.wustl.edu	37	2	49295407	49295407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr2:49295407G>A	ENST00000406846.2	-	2	294	c.175C>T	c.(175-177)Cga>Tga	p.R59*	FSHR_ENST00000304421.4_Nonsense_Mutation_p.R59*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.R59*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	59					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGATGACTCGAAGCTTGGTG	0.413									Gonadal Dysgenesis, 46 XX																													dbGAP											0													121.0	117.0	119.0					2																	49295407		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.175C>T	2.37:g.49295407G>A	ENSP00000384708:p.Arg59*		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.R59*	ENST00000406846.2	37	c.175	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.043761	0.97231	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	.	.	.	4.86	4.86	0.63082	.	0.431385	0.21060	N	0.080844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3532	0.60613	0.0:0.0:1.0:0.0	.	.	.	.	X	59	.	.	R	-	1	2	FSHR	49148911	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	3.008000	0.49544	2.521000	0.84997	0.462000	0.41574	CGA	FSHR	-	prints_FSH_rcpt	ENSG00000170820		0.413	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	91	0.00	0	G			49295407	49295407	-1	no_errors	ENST00000406846	ensembl	human	known	69_37n	nonsense	32	17.95	7	SNP	1.000	A
GNB3	2784	genome.wustl.edu	37	12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCGGCGGACGTTAAGGGGA	0.607																																						dbGAP											0													115.0	97.0	103.0					12																	6952186		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.149C>T	12.37:g.6952186C>T	ENSP00000229264:p.Thr50Met		Q96B71|Q9BQC0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.T50M	ENST00000229264.3	37	c.149	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.110849	0.94292	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.964;0.981	T	0.80944	-0.1156	10	0.66056	D	0.02	-16.8247	18.8518	0.92235	0.0:1.0:0.0:0.0	.	50;50	E9PCP0;P16520	.;GBB3_HUMAN	M	50	ENSP00000229264:T50M;ENSP00000442002:T50M;ENSP00000414734:T50M;ENSP00000445967:T50M	ENSP00000229264:T50M	T	+	2	0	GNB3	6822447	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.818000	0.86416	2.459000	0.83118	0.491000	0.48974	ACG	GNB3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu	ENSG00000111664		0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB3	HGNC	protein_coding	OTTHUMT00000400006.1	164	0.00	0	C	NM_002075		6952186	6952186	+1	no_errors	ENST00000229264	ensembl	human	known	69_37n	missense	21	19.23	5	SNP	1.000	T
GPR75	10936	genome.wustl.edu	37	2	54081234	54081234	+	Silent	SNP	G	G	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr2:54081234G>C	ENST00000394705.2	-	2	930	c.660C>G	c.(658-660)gtC>gtG	p.V220V	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	220					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGATGTAAGAGACAGAGACCA	0.498																																						dbGAP											0													97.0	100.0	99.0					2																	54081234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.660C>G	2.37:g.54081234G>C			B2RC02|Q6NWR2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V220	ENST00000394705.2	37	c.660	CCDS1849.1	2																																																																																			GPR75	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000119737		0.498	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	136	0.00	0	G			54081234	54081234	-1	no_errors	ENST00000394705	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	0.977	C
GPR87	53836	genome.wustl.edu	37	3	151017872	151017872	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr3:151017872G>A	ENST00000260843.4	-	2	481	c.17C>T	c.(16-18)aCg>aTg	p.T6M	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	6					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTGCAAGCGTCAAGTTGAA	0.408																																						dbGAP											0													106.0	97.0	100.0					3																	151017872		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.17C>T	3.37:g.151017872G>A	ENSP00000260843:p.Thr6Met		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor,prints_UDPG_rcpt	p.T6M	ENST00000260843.4	37	c.17	CCDS3157.1	3	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367100	0.24771	.	.	ENSG00000138271	ENST00000260843	T	0.62498	0.02	4.49	3.61	0.41365	.	0.286088	0.24991	N	0.034000	T	0.36248	0.0960	N	0.14661	0.345	0.22745	N	0.99879	P	0.47910	0.902	B	0.34242	0.178	T	0.39961	-0.9588	10	0.66056	D	0.02	-6.0037	7.7074	0.28659	0.1109:0.0:0.8891:0.0	.	6	Q9BY21	GPR87_HUMAN	M	6	ENSP00000260843:T6M	ENSP00000260843:T6M	T	-	2	0	GPR87	152500562	0.967000	0.33354	0.924000	0.36721	0.496000	0.33645	3.430000	0.52807	2.491000	0.84063	0.655000	0.94253	ACG	GPR87	-	NULL	ENSG00000138271		0.408	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	HGNC	protein_coding	OTTHUMT00000357788.1	175	0.57	1	G			151017872	151017872	-1	no_errors	ENST00000260843	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.719	A
HNRNPCL1	343069	genome.wustl.edu	37	1	12907682	12907682	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr1:12907682C>T	ENST00000317869.6	-	2	686	c.461G>A	c.(460-462)cGa>cAa	p.R154Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	154						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTGCCCCTTCGTGAGGTGTT	0.502																																						dbGAP											0													127.0	136.0	133.0					1																	12907682		2202	4297	6499	-	-	-	SO:0001583	missense	0			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.461G>A	1.37:g.12907682C>T	ENSP00000365370:p.Arg154Gln		B2RP44	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.R154Q	ENST00000317869.6	37	c.461	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	.	10.13	1.265064	0.23136	.	.	ENSG00000179172	ENST00000317869	T	0.18960	2.18	1.09	-1.37	0.09056	.	0.000000	0.56097	U	0.000027	T	0.21962	0.0529	M	0.84326	2.69	0.36784	D	0.884502	B	0.27823	0.19	B	0.24701	0.055	T	0.04229	-1.0967	10	0.72032	D	0.01	.	5.5301	0.16980	0.0:0.6228:0.0:0.3772	.	154	O60812	HNRCL_HUMAN	Q	154	ENSP00000365370:R154Q	ENSP00000365370:R154Q	R	-	2	0	HNRNPCL1	12830269	1.000000	0.71417	0.099000	0.21106	0.019000	0.09904	1.615000	0.36922	-0.449000	0.07117	-0.482000	0.04802	CGA	HNRNPCL1	-	pirsf_hnRNP_C_Raly	ENSG00000179172		0.502	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	HGNC	protein_coding	OTTHUMT00000005462.1	178	0.00	0	C	NM_001013631		12907682	12907682	-1	no_errors	ENST00000317869	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.963	T
KDM4C	23081	genome.wustl.edu	37	9	6887970	6887970	+	Silent	SNP	A	A	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr9:6887970A>T	ENST00000381309.3	+	7	1255	c.690A>T	c.(688-690)ccA>ccT	p.P230P	KDM4C_ENST00000442236.2_Silent_p.P49P|KDM4C_ENST00000543771.1_Silent_p.P230P|KDM4C_ENST00000535193.1_Silent_p.P252P|KDM4C_ENST00000381306.3_Silent_p.P230P|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000536108.1_Silent_p.P49P	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	230	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTTTTTTCCCAAGCAGCTCCC	0.348																																						dbGAP											0													162.0	149.0	153.0					9																	6887970		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.690A>T	9.37:g.6887970A>T			B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.P230	ENST00000381309.3	37	c.690	CCDS6471.1	9																																																																																			KDM4C	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000107077		0.348	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	279	0.00	0	A	NM_015061		6887970	6887970	+1	no_errors	ENST00000381309	ensembl	human	known	69_37n	silent	122	15.86	23	SNP	0.868	T
MTA3	57504	genome.wustl.edu	37	2	42871362	42871362	+	Silent	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr2:42871362C>T	ENST00000405094.1	+	6	477	c.477C>T	c.(475-477)gaC>gaT	p.D159D	MTA3_ENST00000407270.3_Silent_p.D159D|MTA3_ENST00000406911.1_Silent_p.D159D|MTA3_ENST00000405592.1_Silent_p.D103D|MTA3_ENST00000406652.1_Silent_p.D103D			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	159	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATCAAGCAGACATTCCAGAAA	0.378																																						dbGAP											0													144.0	131.0	135.0					2																	42871362		1857	4109	5966	-	-	-	SO:0001819	synonymous_variant	0			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.477C>T	2.37:g.42871362C>T			Q9NSP2|Q9ULF4	Silent	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.D159	ENST00000405094.1	37	c.477		2																																																																																			MTA3	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000057935		0.378	MTA3-017	KNOWN	basic	protein_coding	MTA3	HGNC	protein_coding	OTTHUMT00000318159.1	209	0.00	0	C	NM_020744		42871362	42871362	+1	no_errors	ENST00000405094	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	1.000	T
MTSS1	9788	genome.wustl.edu	37	8	125575147	125575147	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr8:125575147G>C	ENST00000518547.1	-	10	1384	c.911C>G	c.(910-912)tCc>tGc	p.S304C	MTSS1_ENST00000395508.2_Missense_Mutation_p.S38C|MTSS1_ENST00000524090.1_Missense_Mutation_p.S194C|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.S104C|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.S304C|MTSS1_ENST00000325064.5_Missense_Mutation_p.S308C|MTSS1_ENST00000431961.2_Missense_Mutation_p.S104C	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	304	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCCAGGTTGGAGCTGCGGTA	0.607																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	dbGAP											0													54.0	46.0	49.0					8																	125575147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.911C>G	8.37:g.125575147G>C	ENSP00000429064:p.Ser304Cys		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.S304C	ENST00000518547.1	37	c.911	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782758	0.70222	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	T;T;T;T;T;T;T;T	0.50001	1.37;1.37;1.37;1.35;1.37;1.37;1.36;0.76	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.54323	1.7	0.58432	D	0.999999	D;D;B;D;B;D	0.76494	0.999;0.999;0.047;0.999;0.078;0.999	D;D;B;P;B;D	0.66847	0.921;0.921;0.012;0.894;0.025;0.947	T	0.59695	-0.7406	10	0.38643	T	0.18	-23.3075	19.9823	0.97331	0.0:0.0:1.0:0.0	.	194;38;304;304;304;104	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.;.;.;MTSS1_HUMAN;.;.	C	304;304;104;38;308;104;194;104	ENSP00000367256:S304C;ENSP00000429064:S304C;ENSP00000346119:S104C;ENSP00000378884:S38C;ENSP00000322804:S308C;ENSP00000393606:S104C;ENSP00000428319:S194C;ENSP00000428145:S104C	ENSP00000322804:S308C	S	-	2	0	MTSS1	125644328	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.984000	0.88150	2.788000	0.95919	0.650000	0.86243	TCC	MTSS1	-	NULL	ENSG00000170873		0.607	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	74	0.00	0	G	NM_014751		125575147	125575147	-1	no_errors	ENST00000518547	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	C
NFKB1	4790	genome.wustl.edu	37	4	103522129	103522129	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr4:103522129C>T	ENST00000505458.1	+	16	1989	c.1712C>T	c.(1711-1713)tCt>tTt	p.S571F	NFKB1_ENST00000394820.4_Missense_Mutation_p.S571F|NFKB1_ENST00000226574.4_Missense_Mutation_p.S572F|NFKB1_ENST00000600343.1_Missense_Mutation_p.S391F			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	571	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGTTTGATTTCTGATGACATT	0.358																																						dbGAP											0													148.0	137.0	141.0					4																	103522129		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1712C>T	4.37:g.103522129C>T	ENSP00000424790:p.Ser571Phe		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,prints_NF_Rel_dor,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD	p.S572F	ENST00000505458.1	37	c.1715	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090956	0.20471	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.65549	-0.16;-0.16;-0.16	5.04	5.04	0.67666	Ankyrin repeat-containing domain (4);	0.558611	0.17991	N	0.155219	T	0.54224	0.1845	L	0.60455	1.87	0.35614	D	0.808866	B;B;P	0.34462	0.257;0.059;0.454	B;B;B	0.35353	0.131;0.02;0.201	T	0.56232	-0.8013	10	0.10111	T	0.7	.	10.1427	0.42744	0.1598:0.7036:0.1365:0.0	.	391;571;572	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	F	572;571;571	ENSP00000226574:S572F;ENSP00000378297:S571F;ENSP00000424790:S571F	ENSP00000226574:S572F	S	+	2	0	NFKB1	103741167	0.970000	0.33590	0.999000	0.59377	0.984000	0.73092	0.923000	0.28757	2.334000	0.79466	0.655000	0.94253	TCT	NFKB1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000109320		0.358	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	159	0.00	0	C			103522129	103522129	+1	no_errors	ENST00000226574	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	0.997	T
NR4A1	3164	genome.wustl.edu	37	12	52451198	52451198	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr12:52451198G>A	ENST00000243050.1	+	7	1738	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y	NR4A1_ENST00000394825.1_Missense_Mutation_p.C475Y|NR4A1_ENST00000360284.3_Missense_Mutation_p.C488Y|NR4A1_ENST00000545748.1_Missense_Mutation_p.C529Y|NR4A1_ENST00000394824.2_Missense_Mutation_p.C475Y|NR4A1_ENST00000550082.1_Missense_Mutation_p.C488Y|RP11-1100L3.8_ENST00000564363.1_lincRNA	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	475					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CGGCTGCAGTGTGCCCGTGGC	0.617																																						dbGAP											0													111.0	96.0	101.0					12																	52451198		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1424G>A	12.37:g.52451198G>A	ENSP00000243050:p.Cys475Tyr		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.C529Y	ENST00000243050.1	37	c.1586	CCDS8818.1	12	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586451	0.86851	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.12	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	1.135540	0.06114	N	0.667739	D	0.98317	0.9442	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.94534	0.7739	10	0.87932	D	0	.	17.8627	0.88786	0.0:0.0:1.0:0.0	.	488;475	B4DML7;P22736	.;NR4A1_HUMAN	Y	488;529;488;475;475;475	ENSP00000353427:C488Y;ENSP00000440864:C529Y;ENSP00000449539:C488Y;ENSP00000243050:C475Y;ENSP00000378302:C475Y;ENSP00000378301:C475Y	ENSP00000243050:C475Y	C	+	2	0	NR4A1	50737465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.595000	0.98260	2.837000	0.97791	0.655000	0.94253	TGT	NR4A1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt	ENSG00000123358		0.617	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NR4A1	HGNC	protein_coding	OTTHUMT00000317922.2	172	0.00	0	G			52451198	52451198	+1	no_errors	ENST00000545748	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	A
OR5T2	219464	genome.wustl.edu	37	11	56000599	56000599	+	Silent	SNP	A	A	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr11:56000599A>T	ENST00000313264.4	-	1	138	c.63T>A	c.(61-63)tcT>tcA	p.S21S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	21			S -> Y (in dbSNP:rs3919907).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TATGACAAAAAGAATGAACAA	0.338																																						dbGAP											0													112.0	105.0	107.0					11																	56000599		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.63T>A	11.37:g.56000599A>T			B9EGX5|Q6IFC8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S21	ENST00000313264.4	37	c.63	CCDS31523.1	11																																																																																			OR5T2	-	NULL	ENSG00000181718		0.338	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	66	0.00	0	A	NM_001004746		56000599	56000599	-1	no_errors	ENST00000313264	ensembl	human	known	69_37n	silent	23	17.86	5	SNP	0.002	T
PBX1	5087	genome.wustl.edu	37	1	164815893	164815893	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr1:164815893C>A	ENST00000420696.2	+	9	1461	c.1273C>A	c.(1273-1275)Cac>Aac	p.H425N	PBX1_ENST00000540246.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.H320N|PBX1_ENST00000540236.1_Intron|PBX1_ENST00000559240.1_Missense_Mutation_p.H334N|PBX1_ENST00000367897.1_3'UTR	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	425					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGCAGTGTTCACTCTGATAC	0.577			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	dbGAP		Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0													162.0	140.0	148.0					1																	164815893		2203	4300	6503	-	-	-	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1273C>A	1.37:g.164815893C>A	ENSP00000405890:p.His425Asn		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.H425N	ENST00000420696.2	37	c.1273	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045740	0.36085	.	.	ENSG00000185630	ENST00000420696	D	0.88431	-2.38	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	N	0.17474	0.49	.	.	.	B;B	0.14805	0.011;0.005	B;B	0.18871	0.023;0.005	T	0.58301	-0.7660	9	0.07990	T	0.79	-16.5783	13.2867	0.60247	0.1583:0.8417:0.0:0.0	.	425;425	A8K5V0;P40424	.;PBX1_HUMAN	N	425	ENSP00000405890:H425N	ENSP00000405890:H425N	H	+	1	0	PBX1	163082517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.213000	0.77950	2.625000	0.88918	0.655000	0.94253	CAC	PBX1	-	NULL	ENSG00000185630		0.577	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	156	0.00	0	C	NM_002585		164815893	164815893	+1	no_errors	ENST00000420696	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73453303	73453303	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr3:73453303C>T	ENST00000263666.4	-	4	1276	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E45K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E110K|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E45K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E105K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	388					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		ACTTACTCCTCTGGCAAGAGA	0.448																																						dbGAP											0													102.0	94.0	97.0					3																	73453303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1162G>A	3.37:g.73453303C>T	ENSP00000263666:p.Glu388Lys		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.E388K	ENST00000263666.4	37	c.1162	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.246586	0.95305	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.10960	2.82;3.54;3.44;3.44;3.52;3.51	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	M	0.70275	2.135	0.80722	D	1	P;D;B;D	0.76494	0.57;0.999;0.129;0.999	B;D;B;D	0.78314	0.274;0.98;0.067;0.991	T	0.00209	-1.1917	10	0.32370	T	0.25	.	20.239	0.98366	0.0:1.0:0.0:0.0	.	110;105;105;388	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	K	388;110;45;45;105;388;86	ENSP00000263666:E388K;ENSP00000442026:E110K;ENSP00000418168:E45K;ENSP00000418484:E45K;ENSP00000418624:E105K;ENSP00000419250:E86K	ENSP00000263666:E388K	E	-	1	0	PDZRN3	73535993	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	7.513000	0.81739	2.884000	0.98904	0.655000	0.94253	GAG	PDZRN3	-	NULL	ENSG00000121440		0.448	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	108	0.00	0	C	XM_041363		73453303	73453303	-1	no_errors	ENST00000263666	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	T
PHF3	23469	genome.wustl.edu	37	6	64356702	64356702	+	Splice_Site	DEL	T	T	-			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr6:64356702delT	ENST00000262043.3	+	2	584		c.e2+2		PHF3_ENST00000509330.1_Splice_Site|PHF3_ENST00000393387.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTCAACAGGTAATTCTTACt	0.289																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											0													69.0	63.0	65.0					6																	64356702		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.244+2T>-	6.37:g.64356702delT			A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Splice_Site	DEL	-	e1+2	ENST00000262043.3	37	c.244+2	CCDS4966.1	6																																																																																			PHF3	-	-	ENSG00000118482		0.289	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	48	0.00	0	T		Intron	64356702	64356702	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	splice_site_del	10	16.67	2	DEL	1.000	-
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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.N345K(44)		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)	CCTACGTGAATGTAAATATTC	0.308		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"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	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.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		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.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	63	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	A
PLEKHA1	59338	genome.wustl.edu	37	10	124189401	124189401	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr10:124189401G>C	ENST00000368990.3	+	12	1293	c.1162G>C	c.(1162-1164)Gat>Cat	p.D388H	PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.D388H	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	388					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCAGGAAAAAGATTGTGACCT	0.517																																						dbGAP											0													84.0	81.0	82.0					10																	124189401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.1162G>C	10.37:g.124189401G>C	ENSP00000357986:p.Asp388His		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D388H	ENST00000368990.3	37	c.1162	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574543	0.28092	.	.	ENSG00000107679	ENST00000368990;ENST00000409427;ENST00000433307	T;T	0.07444	3.19;3.19	5.44	2.49	0.30216	.	0.626445	0.17055	N	0.188788	T	0.05914	0.0154	N	0.19112	0.55	0.21861	N	0.999505	B	0.02656	0.0	B	0.06405	0.002	T	0.33599	-0.9862	10	0.49607	T	0.09	-0.6329	9.4086	0.38477	0.0725:0.2723:0.6553:0.0	.	388	Q9HB21	PKHA1_HUMAN	H	388	ENSP00000357986:D388H;ENSP00000394416:D388H	ENSP00000357986:D388H	D	+	1	0	PLEKHA1	124179391	0.962000	0.33011	0.001000	0.08648	0.957000	0.61999	2.841000	0.48223	0.320000	0.23234	0.650000	0.86243	GAT	PLEKHA1	-	NULL	ENSG00000107679		0.517	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	91	0.00	0	G	NM_001001974		124189401	124189401	+1	no_errors	ENST00000368990	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.169	C
POLR2H	5437	genome.wustl.edu	37	3	184082777	184082777	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr3:184082777G>A	ENST00000456318.1	+	3	1146	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	POLR2H_ENST00000438240.1_5'UTR|POLR2H_ENST00000429568.1_Missense_Mutation_p.E33K|POLR2H_ENST00000443489.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000430783.1_Missense_Mutation_p.E33K|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000296223.3_Missense_Mutation_p.E33K	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	33	Non-specific ssDNA binding.				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGAGAGTGAATCTTTCAA	0.398																																						dbGAP											0													112.0	104.0	107.0					3																	184082777		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.97G>A	3.37:g.184082777G>A	ENSP00000392913:p.Glu33Lys		C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Missense_Mutation	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	p.E33K	ENST00000456318.1	37	c.97	CCDS3264.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.172320	0.94807	.	.	ENSG00000163882	ENST00000456318;ENST00000455712;ENST00000430783;ENST00000296223;ENST00000429568	.	.	.	5.85	4.98	0.66077	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.76157	-0.3062	9	0.30854	T	0.27	-26.574	12.5105	0.56003	0.0801:0.0:0.9199:0.0	.	33	P52434	RPAB3_HUMAN	K	33	.	ENSP00000296223:E33K	E	+	1	0	POLR2H	185565471	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.195000	0.94971	1.476000	0.48215	0.655000	0.94253	GAA	POLR2H	-	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8	ENSG00000163882		0.398	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	136	0.00	0	G	NM_006232		184082777	184082777	+1	no_errors	ENST00000296223	ensembl	human	known	69_37n	missense	67	15.19	12	SNP	1.000	A
PSG1	5669	genome.wustl.edu	37	19	43376163	43376163	+	Silent	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr19:43376163G>A	ENST00000436291.2	-	3	581	c.465C>T	c.(463-465)aaC>aaT	p.N155N	PSG1_ENST00000244296.2_Silent_p.N155N|PSG1_ENST00000595356.1_Silent_p.N155N|PSG1_ENST00000312439.6_Silent_p.N155N|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000595124.1_Intron	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	155	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGGATTTAAGTTGCTGCTGG	0.527																																						dbGAP											0													175.0	165.0	168.0					19																	43376163		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.465C>T	19.37:g.43376163G>A			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N155	ENST00000436291.2	37	c.465	CCDS54275.1	19																																																																																			PSG1	-	pfscan_Ig-like	ENSG00000231924		0.527	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	262	0.00	0	G			43376163	43376163	-1	no_errors	ENST00000312439	ensembl	human	known	69_37n	silent	51	40.70	35	SNP	0.011	A
PSMA3	5684	genome.wustl.edu	37	14	58724656	58724656	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr14:58724656G>C	ENST00000216455.4	+	5	434	c.344G>C	c.(343-345)aGa>aCa	p.R115T	PSMA3_ENST00000557508.1_Missense_Mutation_p.R40T|PSMA3_ENST00000412908.2_Missense_Mutation_p.R115T	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	115					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.R115I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CTTGCAGACAGAGTGGCCATG	0.383																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											112.0	109.0	110.0					14																	58724656		2203	4300	6503	-	-	-	SO:0001583	missense	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.344G>C	14.37:g.58724656G>C	ENSP00000216455:p.Arg115Thr		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.R115T	ENST00000216455.4	37	c.344	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797554	0.90538	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	T;T;T	0.23348	1.91;1.91;1.91	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.89163	3.01	0.80722	D	1	D;D	0.59767	0.983;0.986	P;P	0.56612	0.7;0.802	T	0.64989	-0.6277	10	0.87932	D	0	-5.7676	18.9069	0.92466	0.0:0.0:1.0:0.0	.	115;115	P25788-2;P25788	.;PSA3_HUMAN	T	115;115;40;5	ENSP00000216455:R115T;ENSP00000390491:R115T;ENSP00000452056:R40T	ENSP00000216455:R115T	R	+	2	0	PSMA3	57794409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.119000	0.94362	2.552000	0.86080	0.655000	0.94253	AGA	PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.383	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	225	0.00	0	G	NM_002788		58724656	58724656	+1	no_errors	ENST00000216455	ensembl	human	known	69_37n	missense	61	16.44	12	SNP	1.000	C
PTPRG	5793	genome.wustl.edu	37	3	61975361	61975361	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr3:61975361C>G	ENST00000474889.1	+	3	630	c.253C>G	c.(253-255)Cct>Gct	p.P85A	PTPRG_ENST00000295874.10_Missense_Mutation_p.P85A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	85	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCACCAGTCTCCTATTGACAT	0.488																																						dbGAP											0													102.0	94.0	97.0					3																	61975361		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.253C>G	3.37:g.61975361C>G	ENSP00000418112:p.Pro85Ala		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P85A	ENST00000474889.1	37	c.253	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912667	0.92178	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.82984	-1.67;-1.67	5.65	5.65	0.86999	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96825	0.9607	10	0.87932	D	0	.	19.7186	0.96134	0.0:1.0:0.0:0.0	.	85;85	P23470-2;P23470	.;PTPRG_HUMAN	A	85	ENSP00000418112:P85A;ENSP00000295874:P85A	ENSP00000295874:P85A	P	+	1	0	PTPRG	61950401	1.000000	0.71417	0.940000	0.37924	0.967000	0.64934	7.433000	0.80362	2.650000	0.89964	0.655000	0.94253	CCT	PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000144724		0.488	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	166	0.00	0	C	NM_002841		61975361	61975361	+1	no_errors	ENST00000474889	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	G
PYGB	5834	genome.wustl.edu	37	20	25257355	25257355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr20:25257355delG	ENST00000216962.4	+	6	844	c.734delG	c.(733-735)tggfs	p.W245fs		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	245					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						ATGCGGCTGTGGTCCGCCAAG	0.612																																						dbGAP											0													142.0	96.0	111.0					20																	25257355		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.734delG	20.37:g.25257355delG	ENSP00000216962:p.Trp245fs		Q96AK1|Q9NPX8	Frame_Shift_Del	DEL	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.W245fs	ENST00000216962.4	37	c.734	CCDS13171.1	20																																																																																			PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.612	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	66	0.00	0	G	NM_002862		25257355	25257355	+1	no_errors	ENST00000216962	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
TMEM50A	23585	genome.wustl.edu	37	1	25688942	25688942	+	IGR	SNP	A	A	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr1:25688942A>C	ENST00000374358.4	+	0	2683				RHCE_ENST00000243186.6_3'UTR|RHCE_ENST00000374352.2_3'UTR|RHCE_ENST00000455194.1_3'UTR|RHCE_ENST00000413854.1_Silent_p.R392R|RHCE_ENST00000349438.4_3'UTR|RHCE_ENST00000349320.3_3'UTR|RHCE_ENST00000425135.1_3'UTR|RHCE_ENST00000294413.7_3'UTR|RHCE_ENST00000340849.4_3'UTR|RHCE_ENST00000346452.4_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AGCGTTTCTCACGTACAAATG	0.353																																						dbGAP											0													124.0	105.0	111.0					1																	25688942		692	1591	2283	-	-	-	SO:0001628	intergenic_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651		1.37:g.25688942A>C				Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.R392	ENST00000374358.4	37	c.1176	CCDS264.1	1																																																																																			RHCE	-	NULL	ENSG00000188672		0.353	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020313.1	313	0.32	1	A			25688942	25688942	-1	no_errors	ENST00000413854	ensembl	human	known	69_37n	silent	70	25.53	24	SNP	0.000	C
RTN4R	65078	genome.wustl.edu	37	22	20230142	20230142	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr22:20230142C>T	ENST00000043402.7	-	2	952	c.514G>A	c.(514-516)Gac>Aac	p.D172N	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	172					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CGGAAGGTGTCATCAGGCAGT	0.692																																						dbGAP											0													75.0	64.0	68.0					22																	20230142		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.514G>A	22.37:g.20230142C>T	ENSP00000043402:p.Asp172Asn		D3DX28	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D172N	ENST00000043402.7	37	c.514	CCDS13777.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.795922|2.795922	0.50208|0.50208	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000043402|ENST00000416372;ENST00000425986	T|.	0.58210|.	0.35|.	4.1|4.1	3.07|3.07	0.35406|0.35406	.|.	0.205125|.	0.24417|.	N|.	0.038718|.	T|T	0.36635|0.36635	0.0974|0.0974	N|N	0.16066|0.16066	0.365|0.365	0.44880|0.44880	D|D	0.997895|0.997895	B|.	0.09022|.	0.002|.	B|.	0.14578|.	0.011|.	T|T	0.08289|0.08289	-1.0729|-1.0729	10|5	0.51188|.	T|.	0.08|.	.|.	9.0181|9.0181	0.36182|0.36182	0.0:0.8858:0.0:0.1142|0.0:0.8858:0.0:0.1142	.|.	172|.	Q9BZR6|.	RTN4R_HUMAN|.	N|I	172|191;257	ENSP00000043402:D172N|.	ENSP00000043402:D172N|.	D|M	-|-	1|3	0|0	RTN4R|RTN4R	18610142|18610142	0.994000|0.994000	0.37717|0.37717	0.030000|0.030000	0.17652|0.17652	0.929000|0.929000	0.56500|0.56500	3.881000|3.881000	0.56152|0.56152	1.045000|1.045000	0.40225|0.40225	0.561000|0.561000	0.74099|0.74099	GAC|ATG	RTN4R	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000040608		0.692	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4R	HGNC	protein_coding	OTTHUMT00000318950.2	26	0.00	0	C			20230142	20230142	-1	no_errors	ENST00000043402	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.952	T
RXFP1	59350	genome.wustl.edu	37	4	159547979	159547979	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr4:159547979G>A	ENST00000307765.5	+	10	1014	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	RXFP1_ENST00000470033.1_Missense_Mutation_p.E222K|RXFP1_ENST00000460056.2_Missense_Mutation_p.E174K|RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000343542.5_Missense_Mutation_p.E255K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	255					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGGGACCTTGAAGGCAACCA	0.264																																						dbGAP											0													105.0	93.0	97.0					4																	159547979		1790	4045	5835	-	-	-	SO:0001583	missense	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.763G>A	4.37:g.159547979G>A	ENSP00000303248:p.Glu255Lys		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_supfam,prints_Relaxin_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.E255K	ENST00000307765.5	37	c.763	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325794	0.81580	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000343542;ENST00000470033;ENST00000440678	T;T;D;T	0.83755	3.62;0.47;-1.76;0.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	L	0.41079	1.255	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.992;0.979;0.996;0.998;0.998;1.0	D;D;P;D;D;D;D	0.79108	0.992;0.944;0.877;0.958;0.983;0.983;0.992	T	0.82406	-0.0473	10	0.18710	T	0.47	.	16.1396	0.81513	0.0:0.0:1.0:0.0	.	266;282;255;222;125;192;255	B3KV27;B4DGP2;Q9HBX9-4;Q9HBX9-2;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;RXFP1_HUMAN	K	174;255;255;222;125	ENSP00000423306:E174K;ENSP00000303248:E255K;ENSP00000345889:E255K;ENSP00000420712:E222K	ENSP00000303248:E255K	E	+	1	0	RXFP1	159767429	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.774000	0.68906	2.603000	0.88011	0.557000	0.71058	GAA	RXFP1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000171509		0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	308	0.00	0	G	NM_021634		159547979	159547979	+1	no_errors	ENST00000307765	ensembl	human	known	69_37n	missense	181	17.73	39	SNP	1.000	A
SCN9A	6335	genome.wustl.edu	37	2	167149874	167149874	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr2:167149874delG	ENST00000409435.1	-	8	973	c.974delC	c.(973-975)ccafs	p.P325fs	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.P325fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.P326fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.P326fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	325					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTACCCCTCTGGACACTGACT	0.433																																						dbGAP											0													55.0	55.0	55.0					2																	167149874		1980	4195	6175	-	-	-	SO:0001589	frameshift_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.974delC	2.37:g.167149874delG	ENSP00000386330:p.Pro325fs		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.P326fs	ENST00000409435.1	37	c.977	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.433	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	84	0.00	0	G	NM_002977		167149874	167149874	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
SENP6	26054	genome.wustl.edu	37	6	76385620	76385620	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr6:76385620C>G	ENST00000447266.2	+	13	1949	c.1471C>G	c.(1471-1473)Cta>Gta	p.L491V	SENP6_ENST00000370014.3_Missense_Mutation_p.L491V|SENP6_ENST00000541192.1_Missense_Mutation_p.L87V|SENP6_ENST00000370010.2_Missense_Mutation_p.L484V|SENP6_ENST00000327284.8_Missense_Mutation_p.L484V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	491					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TACCTCTGATCTAACTAAATG	0.338																																						dbGAP											0													72.0	68.0	69.0					6																	76385620		1821	4067	5888	-	-	-	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1471C>G	6.37:g.76385620C>G	ENSP00000402527:p.Leu491Val		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L491V	ENST00000447266.2	37	c.1471	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773715	0.69992	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.50813	1.9;1.95;0.73;1.98;0.75;0.84	5.27	3.42	0.39159	.	0.069655	0.64402	D	0.000016	T	0.53578	0.1805	M	0.71581	2.175	0.44736	D	0.99773	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.98;0.996;0.998	T	0.55211	-0.8176	10	0.44086	T	0.13	-8.78	10.7388	0.46141	0.0:0.8403:0.0:0.1597	.	484;491;484	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	484;491;340;484;491;381;87	ENSP00000359027:L484V;ENSP00000359031:L491V;ENSP00000321820:L484V;ENSP00000402527:L491V;ENSP00000391426:L381V;ENSP00000441715:L87V	ENSP00000321820:L484V	L	+	1	2	SENP6	76442340	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.582000	0.23834	0.557000	0.29117	0.650000	0.86243	CTA	SENP6	-	NULL	ENSG00000112701		0.338	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	127	0.00	0	C	NM_015571		76385620	76385620	+1	no_errors	ENST00000370014	ensembl	human	known	69_37n	missense	70	17.65	15	SNP	1.000	G
SEPT14	346288	genome.wustl.edu	37	7	55910784	55910784	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr7:55910784C>G	ENST00000388975.3	-	5	525	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	137	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGATAGGCCTCAAATTGGGCA	0.363																																						dbGAP											0													88.0	79.0	82.0					7																	55910784		1865	4105	5970	-	-	-	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.409G>C	7.37:g.55910784C>G	ENSP00000373627:p.Glu137Gln		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.E137Q	ENST00000388975.3	37	c.409	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	c	17.49	3.403239	0.62288	.	.	ENSG00000154997	ENST00000388975	T	0.55052	0.54	4.32	4.32	0.51571	.	0.228457	0.28203	N	0.016207	T	0.75503	0.3858	M	0.87547	2.89	0.47341	D	0.999395	D	0.89917	1.0	D	0.97110	1.0	T	0.80995	-0.1133	10	0.87932	D	0	.	15.1071	0.72329	0.0:1.0:0.0:0.0	.	137	Q6ZU15	SEP14_HUMAN	Q	137	ENSP00000373627:E137Q	ENSP00000373627:E137Q	E	-	1	0	SEPT14	55878278	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	6.412000	0.73303	2.314000	0.78098	0.650000	0.86243	GAG	SEPT14	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000154997		0.363	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	170	0.00	0	C	NM_207366		55910784	55910784	-1	no_errors	ENST00000388975	ensembl	human	known	69_37n	missense	75	15.73	14	SNP	1.000	G
SLITRK5	26050	genome.wustl.edu	37	13	88329051	88329051	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr13:88329051G>C	ENST00000325089.6	+	2	1627	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E229Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	470					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAACAGGATCGAGAGGCTGAG	0.557																																						dbGAP											0													61.0	62.0	62.0					13																	88329051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1408G>C	13.37:g.88329051G>C	ENSP00000366283:p.Glu470Gln		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E470Q	ENST00000325089.6	37	c.1408	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607090	0.66558	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57436	0.4;0.4	5.23	5.23	0.72850	.	0.112232	0.64402	D	0.000015	T	0.56485	0.1988	N	0.16478	0.41	0.50313	D	0.99986	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.55418	-0.8144	9	.	.	.	-16.4296	16.2866	0.82724	0.0:0.0:1.0:0.0	.	229;470	B4DSH5;O94991	.;SLIK5_HUMAN	Q	470;229	ENSP00000366283:E470Q;ENSP00000442244:E229Q	.	E	+	1	0	SLITRK5	87127052	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	5.649000	0.67936	2.426000	0.82243	0.561000	0.74099	GAG	SLITRK5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000165300		0.557	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	72	0.00	0	G			88329051	88329051	+1	no_errors	ENST00000325089	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	C
SORL1	6653	genome.wustl.edu	37	11	121425982	121425982	+	Silent	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr11:121425982C>T	ENST00000260197.7	+	18	2655	c.2526C>T	c.(2524-2526)ctC>ctT	p.L842L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	842					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGAACCCCTCAGCCAGCTGC	0.483																																						dbGAP											0													98.0	101.0	100.0					11																	121425982		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2526C>T	11.37:g.121425982C>T			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L842	ENST00000260197.7	37	c.2526	CCDS8436.1	11																																																																																			SORL1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000137642		0.483	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	205	0.00	0	C	NM_003105		121425982	121425982	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	silent	47	16.07	9	SNP	1.000	T
STAP1	26228	genome.wustl.edu	37	4	68459065	68459065	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr4:68459065G>A	ENST00000265404.2	+	8	899	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	STAP1_ENST00000396225.1_Missense_Mutation_p.E273K	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	273	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E273K(1)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTCAACTGATGAAAACACTGG	0.338																																						dbGAP											1	Substitution - Missense(1)	skin(1)											134.0	134.0	134.0					4																	68459065		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.817G>A	4.37:g.68459065G>A	ENSP00000265404:p.Glu273Lys		B2R980	Missense_Mutation	SNP	pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.E273K	ENST00000265404.2	37	c.817	CCDS3515.1	4	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067364	0.36470	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.43688	0.94;0.94	5.65	2.9	0.33743	SH2 motif (1);	0.490766	0.19669	N	0.108816	T	0.29882	0.0747	L	0.44542	1.39	0.27251	N	0.958895	B	0.28128	0.201	B	0.22386	0.039	T	0.15464	-1.0436	10	0.33940	T	0.23	-0.1006	6.4934	0.22127	0.0845:0.0:0.5948:0.3207	.	273	Q9ULZ2	STAP1_HUMAN	K	273	ENSP00000265404:E273K;ENSP00000379527:E273K	ENSP00000265404:E273K	E	+	1	0	STAP1	68141660	0.291000	0.24352	0.903000	0.35520	0.701000	0.40568	0.753000	0.26376	0.277000	0.22141	0.650000	0.86243	GAA	STAP1	-	pfscan_SH2	ENSG00000035720		0.338	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAP1	HGNC	protein_coding	OTTHUMT00000251434.1	160	0.00	0	G	NM_012108		68459065	68459065	+1	no_errors	ENST00000265404	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	0.932	A
STAU2	27067	genome.wustl.edu	37	8	74526082	74526082	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr8:74526082C>T	ENST00000521451.1	-	4	504	c.128G>A	c.(127-129)cGc>cAc	p.R43H	STAU2_ENST00000523558.1_Missense_Mutation_p.R91H|STAU2_ENST00000355780.5_Missense_Mutation_p.R231H|STAU2_ENST00000522509.1_Missense_Mutation_p.R231H|STAU2_ENST00000521727.1_Missense_Mutation_p.R243H|STAU2_ENST00000524300.1_Missense_Mutation_p.R263H|STAU2_ENST00000521210.1_Missense_Mutation_p.R159H|STAU2_ENST00000517542.1_Missense_Mutation_p.R225H|STAU2_ENST00000519961.1_Missense_Mutation_p.R263H|STAU2_ENST00000522695.1_Missense_Mutation_p.R231H			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	263	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GGTCGCAGCGCGCTTCTTGGA	0.423																																						dbGAP											0													89.0	83.0	85.0					8																	74526082		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.128G>A	8.37:g.74526082C>T	ENSP00000428476:p.Arg43His		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.R263H	ENST00000521451.1	37	c.788		8	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737213	0.89482	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	T;T;T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	L	0.48174	1.505	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.997;0.999;1.0;0.998;0.96;0.987;0.931	D	0.85048	0.0927	10	0.54805	T	0.06	-10.2946	20.3802	0.98930	0.0:1.0:0.0:0.0	.	243;159;91;159;231;263;231;263	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	H	231;263;91;159;231;263;243;43;231;225;91	ENSP00000428456:R231H;ENSP00000428756:R263H;ENSP00000428741:R91H;ENSP00000429173:R159H;ENSP00000348026:R231H;ENSP00000430907:R263H;ENSP00000429973:R243H;ENSP00000428476:R43H;ENSP00000427977:R231H;ENSP00000431111:R225H;ENSP00000429005:R91H	ENSP00000344030:R91H	R	-	2	0	STAU2	74688636	0.980000	0.34600	0.967000	0.41034	0.923000	0.55619	2.548000	0.45794	2.822000	0.97130	0.563000	0.77884	CGC	STAU2	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	ENSG00000040341		0.423	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379006.4	188	0.00	0	C	NM_001164380		74526082	74526082	-1	no_errors	ENST00000524300	ensembl	human	known	69_37n	missense	123	12.14	17	SNP	0.997	T
SUZ12	23512	genome.wustl.edu	37	17	30315462	30315462	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr17:30315462G>A	ENST00000322652.5	+	10	1376	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	SUZ12_ENST00000580398.1_Missense_Mutation_p.E360K	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	383					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAGAAATTCAGAGAGTCTCCA	0.403			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													79.0	79.0	79.0					17																	30315462		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1147G>A	17.37:g.30315462G>A	ENSP00000316578:p.Glu383Lys		Q96BD9	Missense_Mutation	SNP	pfam_Polycomb_protein_VEFS-Box	p.E383K	ENST00000322652.5	37	c.1147	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	g	18.45	3.627356	0.66901	.	.	ENSG00000178691	ENST00000322652	T	0.44482	0.92	5.67	5.67	0.87782	.	0.141231	0.64402	D	0.000006	T	0.40570	0.1122	L	0.44542	1.39	0.58432	D	0.999996	B;B	0.23650	0.089;0.089	B;B	0.19946	0.027;0.027	T	0.13229	-1.0517	10	0.41790	T	0.15	-6.1907	19.7638	0.96333	0.0:0.0:1.0:0.0	.	383;383	A8K1U9;Q15022	.;SUZ12_HUMAN	K	383	ENSP00000316578:E383K	ENSP00000316578:E383K	E	+	1	0	SUZ12	27339575	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.200000	0.95010	2.673000	0.90976	0.650000	0.86243	GAG	SUZ12	-	NULL	ENSG00000178691		0.403	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	148	0.00	0	G	NM_015355		30315462	30315462	+1	no_errors	ENST00000322652	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152563452	152563452	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr6:152563452G>T	ENST00000367255.5	-	107	20417	c.19816C>A	c.(19816-19818)Cag>Aag	p.Q6606K	SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1130K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6606K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6535K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6218K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6535K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6606					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCTTCTCCTGACCAGTTTCT	0.453										HNSCC(10;0.0054)																												dbGAP											0													193.0	164.0	174.0					6																	152563452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19816C>A	6.37:g.152563452G>T	ENSP00000356224:p.Gln6606Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q6606K	ENST00000367255.5	37	c.19816	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	1.182	-0.637874	0.03557	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.66	3.79	0.43588	.	0.855669	0.10076	N	0.719108	T	0.17023	0.0409	L	0.54323	1.7	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.001;0.001;0.009	T	0.32214	-0.9915	10	0.48119	T	0.1	.	9.9322	0.41530	0.0:0.1288:0.4741:0.397	.	6606;6606;6535	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	6606;6535;6606;6535;6218;1130	ENSP00000356224:Q6606K;ENSP00000396024:Q6535K;ENSP00000265368:Q6606K;ENSP00000390975:Q6535K;ENSP00000341887:Q6218K;ENSP00000349276:Q1130K	ENSP00000265368:Q6606K	Q	-	1	0	SYNE1	152605145	0.028000	0.19301	0.007000	0.13788	0.999000	0.98932	1.577000	0.36515	0.675000	0.31264	0.655000	0.94253	CAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	281	0.00	0	G	NM_182961		152563452	152563452	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	99	15.38	18	SNP	0.000	T
TBC1D8B	54885	genome.wustl.edu	37	X	106066621	106066621	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chrX:106066621C>T	ENST00000357242.5	+	5	926	c.752C>T	c.(751-753)gCc>gTc	p.A251V	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.A251V|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.A251V|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.A251V	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	251							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAAACTATGCCATTAGAAGA	0.348																																						dbGAP											0													115.0	108.0	110.0					X																	106066621		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.752C>T	X.37:g.106066621C>T	ENSP00000349781:p.Ala251Val		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.A251V	ENST00000357242.5	37	c.752	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038506	0.93630	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.28666	2.71;2.17;1.6;2.74	5.63	5.63	0.86233	.	0.062797	0.64402	D	0.000006	T	0.50051	0.1593	M	0.78456	2.415	0.80722	D	1	D;D;P	0.54964	0.962;0.969;0.952	P;P;P	0.52424	0.686;0.698;0.612	T	0.56469	-0.7974	10	0.87932	D	0	-10.573	17.1413	0.86754	0.0:1.0:0.0:0.0	.	251;251;251	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	V	251	ENSP00000349781:A251V;ENSP00000310675:A251V;ENSP00000421375:A251V;ENSP00000276175:A251V	ENSP00000276175:A251V	A	+	2	0	TBC1D8B	105953277	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.364000	0.80123	0.538000	0.68166	GCC	TBC1D8B	-	NULL	ENSG00000133138		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	143	0.00	0	C	NM_017752		106066621	106066621	+1	no_errors	ENST00000357242	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	1.000	T
TMEM242	729515	genome.wustl.edu	37	6	157713934	157713934	+	Nonstop_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr6:157713934C>G	ENST00000400788.4	-	4	526	c.425G>C	c.(424-426)tGa>tCa	p.*142S	snoU13_ENST00000516800.1_RNA	NM_018452.4	NP_060922.2	Q9NWH2	TM242_HUMAN	transmembrane protein 242	0						integral component of membrane (GO:0016021)											ATGCTCATCTCATTTGGATTT	0.423																																						dbGAP											0													157.0	143.0	147.0					6																	157713934		1879	4115	5994	-	-	-	SO:0001578	stop_lost	0			AF217510	CCDS43519.1	6q25.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000215712	ENSG00000215712			17206	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 35"""	C6orf35			Standard	NM_018452		Approved	BM033	uc003sih.4	Q9NWH2	OTTHUMG00000015893	ENST00000400788.4:c.425G>C	6.37:g.157713934C>G			B9EJD0|Q9NZ88|Q9P094	Nonstop_Mutation	SNP	pfam_DUF1358	p.*142S	ENST00000400788.4	37	c.425	CCDS43519.1	6	.	.	.	.	.	.	.	.	.	.	c	13.89	2.371181	0.42003	.	.	ENSG00000215712	ENST00000400788	.	.	.	5.73	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9711	0.53063	0.0:0.8575:0.0:0.1425	.	.	.	.	S	142	.	.	X	-	2	2	C6orf35	157633922	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.190000	0.42630	1.116000	0.41820	0.533000	0.62120	TGA	TMEM242	-	NULL	ENSG00000215712		0.423	TMEM242-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM242	HGNC	protein_coding	OTTHUMT00000042837.2	285	0.00	0	C			157713934	157713934	-1	no_errors	ENST00000400788	ensembl	human	known	69_37n	nonstop	88	23.28	27	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr17:7577105G>A	ENST00000269305.4	-	8	1022	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P278L	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	GTCTCTCCCAGGACAGGCACA	0.552		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"""	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	GRCh37	CM961376	TP53	M							72.0	63.0	66.0					17																	7577105		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>T	17.37:g.7577105G>A	ENSP00000269305:p.Pro278Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278L	ENST00000269305.4	37	c.833	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814432	0.90790	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	N	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	L	278;278;278;278;278;267;146	ENSP00000352610:P278L;ENSP00000269305:P278L;ENSP00000398846:P278L;ENSP00000391127:P278L;ENSP00000391478:P278L;ENSP00000425104:P146L	ENSP00000269305:P278L	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	171	0.00	0	G	NM_000546		7577105	7577105	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	1.000	A
TRPV2	51393	genome.wustl.edu	37	17	16335539	16335539	+	Silent	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr17:16335539C>G	ENST00000338560.7	+	12	2313	c.1914C>G	c.(1912-1914)ctC>ctG	p.L638L	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Silent_p.L208L	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	638					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCCTGCTGCTCAACATGCTCA	0.632																																						dbGAP											0													75.0	69.0	71.0					17																	16335539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1914C>G	17.37:g.16335539C>G			A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	NULL	p.Q54E	ENST00000338560.7	37	c.160	CCDS32576.1	17																																																																																			TRPV2	-	NULL	ENSG00000187688		0.632	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	72	0.00	0	C	NM_016113		16335539	16335539	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000580788	ensembl	human	putative	69_37n	missense	8	42.86	6	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179445267	179445267	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr2:179445267C>T	ENST00000591111.1	-	267	62140	c.61916G>A	c.(61915-61917)aGa>aAa	p.R20639K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13407K|TTN_ENST00000589042.1_Missense_Mutation_p.R22280K|TTN_ENST00000342992.6_Missense_Mutation_p.R19712K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13340K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13215K|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20639					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACATATAGTCTCATAGTAAC	0.398																																						dbGAP											0													86.0	75.0	79.0					2																	179445267		1856	4090	5946	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61916G>A	2.37:g.179445267C>T	ENSP00000465570:p.Arg20639Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R19712K	ENST00000591111.1	37	c.59135		2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153433	0.57259	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58366	0.2117	L	0.41492	1.28	0.51233	D	0.999911	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.60989	-0.7153	9	0.87932	D	0	.	19.0305	0.92955	0.0:1.0:0.0:0.0	.	13215;13340;13407;20639	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19712;13215;13407;13340;13213	ENSP00000343764:R19712K;ENSP00000434586:R13215K;ENSP00000340554:R13407K;ENSP00000352154:R13340K	ENSP00000340554:R13407K	R	-	2	0	TTN	179153513	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.864000	0.62990	2.500000	0.84329	0.563000	0.77884	AGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	144	0.00	0	C	NM_133378		179445267	179445267	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	1.000	T
USP25	29761	genome.wustl.edu	37	21	17177479	17177479	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr21:17177479C>G	ENST00000285679.6	+	7	1051	c.682C>G	c.(682-684)Cta>Gta	p.L228V	USP25_ENST00000547201.1_3'UTR|USP25_ENST00000285681.2_Missense_Mutation_p.L228V|USP25_ENST00000351097.5_Missense_Mutation_p.L228V|USP25_ENST00000400183.2_Missense_Mutation_p.L228V	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	228	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCTGAGGTATCTATTTGCACT	0.343																																						dbGAP											0													150.0	134.0	140.0					21																	17177479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.682C>G	21.37:g.17177479C>G	ENSP00000285679:p.Leu228Val		C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19	p.L228V	ENST00000285679.6	37	c.682	CCDS33515.1	21	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179088	0.78564	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.79	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.46614	1.455	0.58432	D	0.999998	D;D;D;D	0.89917	0.997;0.997;1.0;0.997	D;D;D;D	0.97110	0.966;0.992;1.0;0.992	T	0.52049	-0.8627	10	0.33940	T	0.23	.	13.6641	0.62384	0.0:0.9234:0.0:0.0766	.	228;228;228;228	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	V	228	ENSP00000285681:L228V;ENSP00000285679:L228V;ENSP00000299574:L228V;ENSP00000383044:L228V	ENSP00000285679:L228V	L	+	1	2	USP25	16099350	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.616000	0.67709	1.316000	0.45131	0.655000	0.94253	CTA	USP25	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000155313		0.343	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	219	0.00	0	C			17177479	17177479	+1	no_errors	ENST00000400183	ensembl	human	known	69_37n	missense	71	19.32	17	SNP	1.000	G
VAMP7	6845	genome.wustl.edu	37	X	155130211	155130211	+	Silent	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chrX:155130211C>T	ENST00000286448.6	+	5	558	c.393C>T	c.(391-393)gcC>gcT	p.A131A	VAMP7_ENST00000460621.1_Silent_p.A90A|VAMP7_ENST00000262640.6_Silent_p.A131A|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	131	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGACTCAAGCCCAAGTGGATG	0.363																																						dbGAP											0													168.0	151.0	157.0					X																	155130211		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.393C>T	X.37:g.155130211C>T			Q53GY7|Q7Z409|Q9H4A7	Silent	SNP	superfamily_Longin-like_dom,pfscan_Longin_dom	p.A131	ENST00000286448.6	37	c.393	CCDS14770.4	X																																																																																			VAMP7	-	NULL	ENSG00000124333		0.363	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP7	HGNC	protein_coding	OTTHUMT00000058843.1	237	0.00	0	C	NM_005638		155130211	155130211	+1	no_errors	ENST00000262640	ensembl	human	known	69_37n	silent	72	12.20	10	SNP	1.000	T
WDFY3	23001	genome.wustl.edu	37	4	85617213	85617213	+	Silent	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr4:85617213C>T	ENST00000295888.4	-	58	9218	c.8811G>A	c.(8809-8811)gaG>gaA	p.E2937E	WDFY3_ENST00000322366.6_Silent_p.E2920E	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2937	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCACTTGACCCTCATAAAAAA	0.418																																						dbGAP											0													107.0	104.0	105.0					4																	85617213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8811G>A	4.37:g.85617213C>T			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2937	ENST00000295888.4	37	c.8811	CCDS3609.1	4																																																																																			WDFY3	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000163625		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	88	0.00	0	C	NM_014991		85617213	85617213	-1	no_errors	ENST00000295888	ensembl	human	known	69_37n	silent	33	25.00	11	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77616868	77616868	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr8:77616868C>T	ENST00000521891.2	+	2	993	c.545C>T	c.(544-546)tCt>tTt	p.S182F	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S182F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S182F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S182F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTCTGCTTCTGCACCTATG	0.488										HNSCC(33;0.089)																												dbGAP											0													68.0	67.0	68.0					8																	77616868		1993	4170	6163	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.545C>T	8.37:g.77616868C>T	ENSP00000430497:p.Ser182Phe		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S182F	ENST00000521891.2	37	c.545	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824481	0.16678	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.42	5.42	0.78866	.	0.164591	0.28671	U	0.014536	T	0.36026	0.0952	N	0.14661	0.345	0.43076	D	0.994723	B;P;P;P	0.41569	0.38;0.514;0.514;0.755	B;B;B;P	0.48141	0.123;0.244;0.244;0.568	T	0.32052	-0.9921	10	0.72032	D	0.01	.	19.416	0.94700	0.0:1.0:0.0:0.0	.	182;182;182;182	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	F	182	ENSP00000430497:S182F;ENSP00000399605:S182F;ENSP00000050961:S182F;ENSP00000430848:S182F	ENSP00000050961:S182F	S	+	2	0	ZFHX4	77779423	1.000000	0.71417	0.833000	0.33012	0.997000	0.91878	5.912000	0.69948	2.821000	0.97095	0.650000	0.86243	TCT	ZFHX4	-	NULL	ENSG00000091656		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	95	0.00	0	C	NM_024721		77616868	77616868	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.998	T
ZFHX4	79776	genome.wustl.edu	37	8	77776717	77776717	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr8:77776717T>A	ENST00000521891.2	+	11	11215	c.10767T>A	c.(10765-10767)gaT>gaA	p.D3589E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3563E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3540E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3544E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGACTTAGATAATTCTTTGG	0.453										HNSCC(33;0.089)																												dbGAP											0													49.0	48.0	48.0					8																	77776717		1981	4178	6159	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10767T>A	8.37:g.77776717T>A	ENSP00000430497:p.Asp3589Glu		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.D3589E	ENST00000521891.2	37	c.10767	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202103	0.38905	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50277	0.75;0.79;0.77;0.76	4.6	4.6	0.57074	.	0.000000	0.45867	U	0.000325	T	0.59074	0.2167	L	0.57536	1.79	0.51012	D	0.999909	D	0.61697	0.99	P	0.58928	0.848	T	0.57688	-0.7768	10	0.33940	T	0.23	.	14.4505	0.67382	0.0:0.0:0.0:1.0	.	3544	Q86UP3-4	.	E	3589;3573;3544;3540;3563	ENSP00000430497:D3589E;ENSP00000399605:D3544E;ENSP00000050961:D3540E;ENSP00000430848:D3563E	ENSP00000050961:D3540E	D	+	3	2	ZFHX4	77939272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.680000	0.68168	2.064000	0.61679	0.528000	0.53228	GAT	ZFHX4	-	NULL	ENSG00000091656		0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	67	0.00	0	T	NM_024721		77776717	77776717	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	71	10.13	8	SNP	1.000	A
ZNF532	55205	genome.wustl.edu	37	18	56587811	56587811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0YH-01A-11D-A10G-09	TCGA-A2-A0YH-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	e5558a39-eab2-4216-ba88-b63c2de48b01	b5036146-9005-41b6-ad70-1906a7c6c8c7	g.chr18:56587811delG	ENST00000336078.4	+	4	3068	c.2292delG	c.(2290-2292)cagfs	p.Q764fs	ZNF532_ENST00000591083.1_Frame_Shift_Del_p.Q764fs|ZNF532_ENST00000591230.1_Frame_Shift_Del_p.Q764fs|ZNF532_ENST00000589288.1_Frame_Shift_Del_p.Q764fs|ZNF532_ENST00000591808.1_Frame_Shift_Del_p.Q764fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	764					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(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGTCTTCCAGGACGAGACAT	0.453																																						dbGAP											0													73.0	68.0	70.0					18																	56587811		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2292delG	18.37:g.56587811delG	ENSP00000338217:p.Gln764fs		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D765fs	ENST00000336078.4	37	c.2292	CCDS11969.1	18																																																																																			ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000074657		0.453	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	53	0.00	0	G	NM_018181		56587811	56587811	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	1.000	-
