#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	101591523	101591523	+	Silent	SNP	C	C	T	rs150618323		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr10:101591523C>T	ENST00000370449.4	+	22	3152	c.3039C>T	c.(3037-3039)acC>acT	p.T1013T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1013	ABC transmembrane type-1 2. {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)	p.T1013T(1)		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)	TCAATAGCACCGACTATCCAG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		20812	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											122.0	117.0	118.0					10																	101591523		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.3039C>T	10.37:g.101591523C>T			B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.T1013	ENST00000370449.4	37	c.3039	CCDS7484.1	10																																																																																			ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.458	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	133	0.00	0	C	NM_000392		101591523	101591523	+1	no_errors	ENST00000370449	ensembl	human	known	69_37n	silent	67	39.64	44	SNP	0.000	T
ATXN7	6314	genome.wustl.edu	37	3	63965739	63965739	+	Silent	SNP	A	A	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr3:63965739A>C	ENST00000295900.6	+	6	1198	c.648A>C	c.(646-648)tcA>tcC	p.S216S	ATXN7_ENST00000398590.3_Silent_p.S216S|ATXN7_ENST00000484332.1_Silent_p.S71S|ATXN7_ENST00000538065.1_Silent_p.S216S|ATXN7_ENST00000487717.1_Silent_p.S216S|ATXN7_ENST00000488239.1_3'UTR	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	216	Poly-Ser.|Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S216S(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCGCATCCTCATCAAGTTCCA	0.483																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											90.0	90.0	90.0					3																	63965739		1981	4176	6157	-	-	-	SO:0001819	synonymous_variant	0			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.648A>C	3.37:g.63965739A>C			B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	pfam_SCA7_dom	p.S216	ENST00000295900.6	37	c.648	CCDS43102.1	3																																																																																			ATXN7	-	NULL	ENSG00000163635		0.483	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	136	0.00	0	A	NM_000333		63965739	63965739	+1	no_errors	ENST00000398590	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.034	C
ATP6V1A	523	genome.wustl.edu	37	3	113507649	113507649	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr3:113507649G>C	ENST00000273398.3	+	7	914	c.806G>C	c.(805-807)aGt>aCt	p.S269T	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.S236T	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	269					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.S269T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	TATTCTAACAGTGATGTAATC	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	164.0	163.0					3																	113507649		2203	4300	6503	-	-	-	SO:0001583	missense	0			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.806G>C	3.37:g.113507649G>C	ENSP00000273398:p.Ser269Thr		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.S269T	ENST00000273398.3	37	c.806	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447295	0.63178	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	T;T	0.80393	-1.37;-1.37	5.61	4.74	0.60224	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.31157	0.91	0.80722	D	1	B	0.24823	0.112	B	0.37387	0.248	T	0.74408	-0.3675	10	0.51188	T	0.08	-16.3528	14.6966	0.69126	0.0699:0.0:0.9301:0.0	.	269	P38606	VATA_HUMAN	T	269;236	ENSP00000273398:S269T;ENSP00000439874:S236T	ENSP00000273398:S269T	S	+	2	0	ATP6V1A	114990339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.209000	0.95087	1.361000	0.45981	0.655000	0.94253	AGT	ATP6V1A	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu	ENSG00000114573		0.433	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1	218	0.00	0	G	NM_001690		113507649	113507649	+1	no_errors	ENST00000273398	ensembl	human	known	69_37n	missense	105	13.93	17	SNP	1.000	C
BACE1	23621	genome.wustl.edu	37	11	117164599	117164599	+	Silent	SNP	G	G	A	rs200662469		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:117164599G>A	ENST00000313005.6	-	4	1153	c.693C>T	c.(691-693)gtC>gtT	p.V231V	BACE1_ENST00000428381.2_Silent_p.V162V|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000510630.1_Silent_p.V106V|BACE1_ENST00000445823.2_Silent_p.V187V|BACE1_ENST00000392937.6_Silent_p.V131V|BACE1_ENST00000528053.1_Silent_p.V231V|BACE1_ENST00000513780.1_Silent_p.V206V	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	231					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.V231V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TGCTCCCTCCGACAGAGGCCA	0.572																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											87.0	73.0	77.0					11																	117164599		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.693C>T	11.37:g.117164599G>A			A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE1,prints_Pept_A1_BACE	p.R161W	ENST00000313005.6	37	c.481	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	G	8.854	0.945370	0.18356	.	.	ENSG00000186318	ENST00000530844;ENST00000504995	.	.	.	5.97	-9.84	0.00479	.	.	.	.	.	T	0.50000	0.1590	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61667	-0.7016	4	.	.	.	.	11.2774	0.49174	0.2377:0.4586:0.3038:0.0	.	.	.	.	W	101;161	.	.	R	-	1	2	BACE1	116669809	0.000000	0.05858	0.118000	0.21660	0.945000	0.59286	-2.893000	0.00708	-2.028000	0.00931	-0.794000	0.03295	CGG	BACE1	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE1	ENSG00000186318		0.572	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	HGNC	protein_coding	OTTHUMT00000361505.1	99	0.00	0	G			117164599	117164599	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000504995	ensembl	human	putative	69_37n	missense	24	59.32	35	SNP	0.102	A
BCL2L13	23786	genome.wustl.edu	37	22	18185061	18185061	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr22:18185061G>A	ENST00000317582.5	+	6	856	c.509G>A	c.(508-510)cGt>cAt	p.R170H	BCL2L13_ENST00000493680.1_Missense_Mutation_p.R170H|BCL2L13_ENST00000538149.1_Missense_Mutation_p.R46H|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_Missense_Mutation_p.R8H|BCL2L13_ENST00000543133.1_Missense_Mutation_p.R8H|BCL2L13_ENST00000399782.1_Missense_Mutation_p.R170H|BCL2L13_ENST00000355028.3_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	170				R -> L (in Ref. 8; AAF03602). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R170H(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTGACAAGACGTGGTCAAGAA	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											139.0	132.0	134.0					22																	18185061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.509G>A	22.37:g.18185061G>A	ENSP00000318883:p.Arg170His		B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.R170H	ENST00000317582.5	37	c.509	CCDS13746.1	22	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301322	0.81136	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612;ENST00000493680	T;T;T;T;T;T	0.11930	2.73;2.73;3.55;2.73;3.55;2.73	5.8	3.7	0.42460	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.239430	0.41605	D	0.000844	T	0.33000	0.0848	M	0.65975	2.015	0.36267	D	0.854951	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.87578	0.91;0.91;0.998	T	0.42447	-0.9451	10	0.87932	D	0	-2.8415	11.2088	0.48786	0.1468:0.0:0.8532:0.0	.	46;170;170	B7Z238;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	H	170;170;8;46;8;170	ENSP00000382682:R170H;ENSP00000318883:R170H;ENSP00000437667:R8H;ENSP00000441344:R46H;ENSP00000338932:R8H;ENSP00000434764:R170H	ENSP00000318883:R170H	R	+	2	0	BCL2L13	16565061	0.984000	0.35163	0.951000	0.38953	0.830000	0.47004	2.938000	0.48987	1.460000	0.47911	-0.150000	0.13652	CGT	BCL2L13	-	pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis	ENSG00000099968		0.438	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L13	HGNC	protein_coding	OTTHUMT00000316184.1	158	0.00	0	G	NM_015367		18185061	18185061	+1	no_errors	ENST00000317582	ensembl	human	known	69_37n	missense	36	52.00	39	SNP	0.953	A
MROH8	140699	genome.wustl.edu	37	20	35788533	35788533	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr20:35788533C>T	ENST00000400441.3	-	6	694	c.695G>A	c.(694-696)cGc>cAc	p.R232H	MROH8_ENST00000441008.2_Missense_Mutation_p.R218H|MROH8_ENST00000217333.8_Missense_Mutation_p.R147H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	152								p.R232H(1)									GACCTCCTGGCGCATGGAACT	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											40.0	44.0	42.0					20																	35788533		1987	4164	6151	-	-	-	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.695G>A	20.37:g.35788533C>T	ENSP00000383291:p.Arg232His		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R232H	ENST00000400441.3	37	c.695		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.81|11.81	1.749452|1.749452	0.30955|0.30955	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811;ENST00000400440|ENST00000441008;ENST00000400441;ENST00000217333;ENST00000434295;ENST00000422138	.|T;T;T	.|0.07444	.|3.19;3.19;3.19	5.51|5.51	0.944|0.944	0.19537|0.19537	.|.	.|0.547660	.|0.19208	.|N	.|0.120016	T|T	0.07999|0.07999	0.0200|0.0200	M|M	0.63843|0.63843	1.955|1.955	0.29274|0.29274	N|N	0.870467|0.870467	.|B;P;B	.|0.36647	.|0.071;0.563;0.116	.|B;B;B	.|0.30495	.|0.011;0.116;0.025	T|T	0.11665|0.11665	-1.0578|-1.0578	5|10	.|0.72032	.|D	.|0.01	-0.1873|-0.1873	6.4441|6.4441	0.21867|0.21867	0.4572:0.4579:0.0:0.0849|0.4572:0.4579:0.0:0.0849	.|.	.|232;152;242	.|E7ETR9;Q9H579;Q6PF12	.|.;CT132_HUMAN;.	T|H	259;263|218;232;147;2;2	.|ENSP00000392144:R218H;ENSP00000383291:R232H;ENSP00000217333:R147H	.|ENSP00000217333:R147H	A|R	-|-	1|2	0|0	C20orf132|C20orf132	35221947|35221947	0.078000|0.078000	0.21339|0.21339	1.000000|1.000000	0.80357|0.80357	0.148000|0.148000	0.21650|0.21650	-1.819000|-1.819000	0.01716|0.01716	0.337000|0.337000	0.23665|0.23665	0.655000|0.655000	0.94253|0.94253	GCC|CGC	C20orf132	-	superfamily_ARM-type_fold	ENSG00000101353		0.542	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		67	0.00	0	C	NM_152503		35788533	35788533	-1	no_errors	ENST00000400441	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	0.996	T
CASK	8573	genome.wustl.edu	37	X	41419042	41419042	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:41419042G>A	ENST00000378163.1	-	18	2201	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L	CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378154.1_Missense_Mutation_p.S576L|CASK_ENST00000421587.2_Missense_Mutation_p.S570L|CASK_ENST00000361962.4_Missense_Mutation_p.S576L|CASK_ENST00000442742.2_Missense_Mutation_p.S576L|CASK_ENST00000318588.9_Missense_Mutation_p.S576L|CASK_ENST00000378158.1_Missense_Mutation_p.S576L|CASK_ENST00000378166.4_Missense_Mutation_p.S576L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	576					calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.S576L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTCACAGGACGAAGACTGAGT	0.463																																					NSCLC(42;104 1086 3090 27189 35040)	dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	76.0	85.0					X																	41419042		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1727C>T	X.37:g.41419042G>A	ENSP00000367405:p.Ser576Leu		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.S576L	ENST00000378163.1	37	c.1727		X	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045627	0.55110	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T;T;T	0.68765	-0.34;-0.32;-0.32;-0.32;3.37;1.12;-0.32;-0.32;-0.35;-0.33	5.96	5.96	0.96718	Src homology-3 domain (1);PDZ/DHR/GLGF (1);	0.000000	0.48767	D	0.000162	T	0.50548	0.1622	N	0.08118	0	0.58432	D	0.999998	B;B;B;B;B	0.12013	0.001;0.005;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.0;0.0	T	0.41822	-0.9487	10	0.37606	T	0.19	.	19.3572	0.94420	0.0:0.0:1.0:0.0	.	570;576;576;576;191	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	L	570;576;576;576;191;43;576;576;576;576	ENSP00000400526:S570L;ENSP00000322727:S576L;ENSP00000354641:S576L;ENSP00000367405:S576L;ENSP00000367421:S191L;ENSP00000367410:S43L;ENSP00000367400:S576L;ENSP00000367408:S576L;ENSP00000398007:S576L;ENSP00000367396:S576L	ENSP00000322727:S576L	S	-	2	0	CASK	41303986	1.000000	0.71417	0.960000	0.40013	0.932000	0.56968	7.600000	0.82769	2.524000	0.85096	0.600000	0.82982	TCG	CASK	-	superfamily_SH3_domain,superfamily_PDZ	ENSG00000147044		0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	182	0.00	0	G	NM_003688		41419042	41419042	-1	no_errors	ENST00000378163	ensembl	human	known	69_37n	missense	78	37.60	47	SNP	0.998	A
CECR5	27440	genome.wustl.edu	37	22	17623996	17623996	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr22:17623996C>T	ENST00000336737.4	-	5	588	c.563G>A	c.(562-564)cGc>cAc	p.R188H	CECR5_ENST00000399852.3_Missense_Mutation_p.R51H|CECR5_ENST00000155674.5_Missense_Mutation_p.R158H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	188						mitochondrion (GO:0005739)		p.R188H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				ACCTTCAATGCGGGGGAAGTC	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											94.0	82.0	86.0					22																	17623996		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.563G>A	22.37:g.17623996C>T	ENSP00000337358:p.Arg188His		B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA	p.R188H	ENST00000336737.4	37	c.563	CCDS33595.1	22	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668350	0.29604	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.21734	1.99;1.99;1.99	5.62	4.6	0.57074	HAD-like domain (1);	0.619733	0.17270	N	0.180409	T	0.17704	0.0425	L	0.31476	0.935	0.22940	N	0.998538	B;B;B	0.23806	0.006;0.091;0.086	B;B;B	0.18263	0.008;0.021;0.016	T	0.13308	-1.0514	10	0.48119	T	0.1	-3.3938	14.6182	0.68565	0.0:0.1472:0.8528:0.0	.	158;51;188	Q9BXW7-2;A8MYZ9;Q9BXW7	.;.;CECR5_HUMAN	H	158;188;51	ENSP00000155674:R158H;ENSP00000337358:R188H;ENSP00000382745:R51H	ENSP00000155674:R158H	R	-	2	0	CECR5	16003996	0.997000	0.39634	0.914000	0.36105	0.328000	0.28507	2.175000	0.42491	1.386000	0.46466	-0.234000	0.12200	CGC	CECR5	-	superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA	ENSG00000069998		0.567	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CECR5	HGNC	protein_coding	OTTHUMT00000316100.1	89	0.00	0	C	NM_017829		17623996	17623996	-1	no_errors	ENST00000336737	ensembl	human	known	69_37n	missense	14	63.41	26	SNP	0.964	T
DNAH10	196385	genome.wustl.edu	37	12	124414242	124414242	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr12:124414242C>T	ENST00000409039.3	+	71	12219	c.12194C>T	c.(12193-12195)aCg>aTg	p.T4065M	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4065					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T4065M(1)|p.T2657M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGTACTTAACGAAAGCCTTC	0.507																																						dbGAP											2	Substitution - Missense(2)	breast(2)											48.0	46.0	46.0					12																	124414242		1886	4116	6002	-	-	-	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12194C>T	12.37:g.124414242C>T	ENSP00000386770:p.Thr4065Met		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.T4065M	ENST00000409039.3	37	c.12194	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828216	0.50845	.	.	ENSG00000197653	ENST00000409039	T	0.08896	3.04	5.06	5.06	0.68205	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.67625	2.065	0.80722	D	1	D	0.61697	0.99	P	0.61397	0.888	T	0.00749	-1.1582	10	0.72032	D	0.01	.	18.7829	0.91941	0.0:1.0:0.0:0.0	.	4065	Q8IVF4	DYH10_HUMAN	M	4065	ENSP00000386770:T4065M	ENSP00000386770:T4065M	T	+	2	0	DNAH10	122980195	0.998000	0.40836	0.313000	0.25210	0.127000	0.20565	3.815000	0.55651	2.519000	0.84933	0.655000	0.94253	ACG	DNAH10	-	pfam_Dynein_heavy	ENSG00000197653		0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	111	0.00	0	C			124414242	124414242	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	0.997	T
GAB1	2549	genome.wustl.edu	37	4	144380559	144380559	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr4:144380559T>C	ENST00000262994.4	+	7	1909	c.1607T>C	c.(1606-1608)aTa>aCa	p.I536T	GAB1_ENST00000262995.4_Missense_Mutation_p.I566T|GAB1_ENST00000505913.1_Missense_Mutation_p.I433T	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	536	Pro-rich.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.I566T(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CCTTTAGAAATAAAACCTTTG	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											143.0	158.0	153.0					4																	144380559		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1607T>C	4.37:g.144380559T>C	ENSP00000262994:p.Ile536Thr		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I566T	ENST00000262994.4	37	c.1697	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664623	0.88251	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.18174	2.5;2.23;2.23	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.26883	-1.0090	10	0.72032	D	0.01	-9.2855	16.3196	0.82941	0.0:0.0:0.0:1.0	.	536;566	Q13480;Q13480-2	GAB1_HUMAN;.	T	566;536;433	ENSP00000262995:I566T;ENSP00000262994:I536T;ENSP00000424554:I433T	ENSP00000262994:I536T	I	+	2	0	GAB1	144600009	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.665000	0.83852	2.248000	0.74166	0.459000	0.35465	ATA	GAB1	-	NULL	ENSG00000109458		0.363	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	196	0.00	0	T	NM_002039		144380559	144380559	+1	no_errors	ENST00000262995	ensembl	human	known	69_37n	missense	207	13.39	32	SNP	1.000	C
GET4	51608	genome.wustl.edu	37	7	930646	930646	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr7:930646C>T	ENST00000265857.3	+	5	642	c.548C>T	c.(547-549)tCc>tTc	p.S183F	GET4_ENST00000407192.1_Missense_Mutation_p.S130F	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	183					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)		p.S183F(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGAGTATTCCACGTCCCGC	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											132.0	114.0	120.0					7																	930646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.548C>T	7.37:g.930646C>T	ENSP00000265857:p.Ser183Phe		A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	pfam_UPF0363	p.S183F	ENST00000265857.3	37	c.548	CCDS5317.1	7	.	.	.	.	.	.	.	.	.	.	c	23.9	4.475266	0.84640	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000426056	.	.	.	5.11	5.11	0.69529	.	0.054687	0.85682	D	0.000000	T	0.69646	0.3134	M	0.78456	2.415	0.80722	D	1	P	0.43169	0.8	P	0.47864	0.559	T	0.67397	-0.5681	9	0.10636	T	0.68	-29.4357	18.5262	0.90973	0.0:1.0:0.0:0.0	.	183	Q7L5D6	GET4_HUMAN	F	183;137;130;144	.	ENSP00000265857:S183F	S	+	2	0	GET4	897172	1.000000	0.71417	0.913000	0.36048	0.567000	0.35839	7.483000	0.81158	2.397000	0.81536	0.486000	0.48141	TCC	GET4	-	pfam_UPF0363	ENSG00000239857		0.567	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GET4	HGNC	protein_coding	OTTHUMT00000231930.1	157	0.00	0	C	NM_015949		930646	930646	+1	no_errors	ENST00000265857	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	1.000	T
GPC6	10082	genome.wustl.edu	37	13	93879855	93879855	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr13:93879855A>T	ENST00000377047.4	+	1	761	c.146A>T	c.(145-147)tAc>tTc	p.Y49F		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	49					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Y49F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GACATCCCCTACCAGGAGATC	0.726											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											26.0	26.0	26.0					13																	93879855		2202	4296	6498	-	-	-	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.146A>T	13.37:g.93879855A>T	ENSP00000366246:p.Tyr49Phe	1301	A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.Y49F	ENST00000377047.4	37	c.146	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	A	9.580	1.123422	0.20959	.	.	ENSG00000183098	ENST00000377047	T	0.49432	0.78	5.36	4.17	0.49024	.	0.212567	0.30227	N	0.010109	T	0.36608	0.0973	L	0.36672	1.1	0.27449	N	0.953504	B;B	0.02656	0.0;0.0	B;B	0.12837	0.003;0.008	T	0.19976	-1.0289	10	0.27082	T	0.32	.	11.4503	0.50149	0.8649:0.0:0.0:0.1351	.	49;49	B4E2M1;Q9Y625	.;GPC6_HUMAN	F	49	ENSP00000366246:Y49F	ENSP00000366246:Y49F	Y	+	2	0	GPC6	92677856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.243000	0.32767	0.872000	0.35775	-0.301000	0.09380	TAC	GPC6	-	pfam_Glypican	ENSG00000183098		0.726	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	60	0.00	0	A	NM_005708		93879855	93879855	+1	no_errors	ENST00000377047	ensembl	human	known	69_37n	missense	14	57.58	19	SNP	1.000	T
GRIA3	2892	genome.wustl.edu	37	X	122536950	122536950	+	Splice_Site	SNP	G	G	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:122536950G>C	ENST00000371251.1	+	8	1237		c.e8+1		GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000264357.5_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371256.5_Splice_Site			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTCTCGAAAAGTAAGTAACCA	0.318																																						dbGAP											3	Unknown(3)	breast(3)											103.0	100.0	101.0					X																	122536950		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1185+1G>C	X.37:g.122536950G>C			D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Splice_Site	SNP	-	e8+1	ENST00000371251.1	37	c.1185+1	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590129	0.86851	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6583	0.88184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA3	122364631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.387000	0.81309	0.594000	0.82650	.	GRIA3	-	-	ENSG00000125675		0.318	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	162	0.00	0	G	NM_000828	Intron	122536950	122536950	+1	no_errors	ENST00000264357	ensembl	human	known	69_37n	splice_site	116	17.73	25	SNP	1.000	C
GRM7	2917	genome.wustl.edu	37	3	7728066	7728066	+	Intron	SNP	G	G	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr3:7728066G>C	ENST00000357716.4	+	9	2972				GRM7_ENST00000402647.2_Missense_Mutation_p.K907N|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000389336.4_Intron|GRM7_ENST00000486284.1_Missense_Mutation_p.K907N	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.K907N(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAGTAAGAAAGAGTGTACAAA	0.289																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	67.0	67.0					3																	7728066		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2698+6084G>C	3.37:g.7728066G>C			Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.K907N	ENST00000357716.4	37	c.2721	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351490	0.24512	.	.	ENSG00000196277	ENST00000486284;ENST00000402647	D;D	0.89415	-2.51;-2.51	5.5	2.3	0.28687	.	7739.210000	0.00166	N	0.000000	T	0.79741	0.4498	N	0.08118	0	0.29053	N	0.884394	B	0.30361	0.277	B	0.29785	0.107	T	0.69855	-0.5032	10	0.21014	T	0.42	.	9.8645	0.41134	0.262:0.0:0.738:0.0	.	907	Q14831-2	.	N	907	ENSP00000417536:K907N;ENSP00000384585:K907N	ENSP00000384585:K907N	K	+	3	2	GRM7	7703066	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.413000	0.34725	0.712000	0.32039	-0.380000	0.06706	AAG	GRM7	-	NULL	ENSG00000196277		0.289	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	137	0.00	0	G	NM_000844		7728066	7728066	+1	no_errors	ENST00000402647	ensembl	human	known	69_37n	missense	118	12.59	17	SNP	1.000	C
GUCY1A2	2977	genome.wustl.edu	37	11	106810893	106810893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:106810893C>A	ENST00000526355.2	-	4	967	c.499G>T	c.(499-501)Gag>Tag	p.E167*	GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E167*|GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E167*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	167					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.E167*(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TGAATTTCCTCAAACTTCAAA	0.323																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											34.0	39.0	37.0					11																	106810893		2099	4269	6368	-	-	-	SO:0001587	stop_gained	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.499G>T	11.37:g.106810893C>A	ENSP00000431245:p.Glu167*		A1L4C4|B7ZLT5	Nonsense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E167*	ENST00000526355.2	37	c.499	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.129309	0.98667	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.17	4.23	0.50019	.	0.158680	0.28301	U	0.015845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.4829	0.67594	0.0:0.852:0.148:0.0	.	.	.	.	X	167	.	ENSP00000282249:E167X	E	-	1	0	GUCY1A2	106316103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.771000	0.62318	1.111000	0.41721	0.591000	0.81541	GAG	GUCY1A2	-	pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000152402		0.323	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	17	0.00	0	C			106810893	106810893	-1	no_errors	ENST00000282249	ensembl	human	known	69_37n	nonsense	12	29.41	5	SNP	1.000	A
INPP4B	8821	genome.wustl.edu	37	4	143094874	143094874	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr4:143094874T>G	ENST00000513000.1	-	17	1703	c.1270A>C	c.(1270-1272)Ata>Cta	p.I424L	INPP4B_ENST00000509777.1_Missense_Mutation_p.I424L|INPP4B_ENST00000262992.4_Missense_Mutation_p.I424L|INPP4B_ENST00000308502.4_Missense_Mutation_p.I424L|INPP4B_ENST00000508116.1_Missense_Mutation_p.I424L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	424					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.I424L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGGGTTGCTATAAGAGGTTGT	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											324.0	306.0	312.0					4																	143094874		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1270A>C	4.37:g.143094874T>G	ENSP00000425487:p.Ile424Leu		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.I424L	ENST00000513000.1	37	c.1270	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954866	0.34471	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.56	0.109	0.14578	.	0.244651	0.45606	N	0.000355	T	0.14013	0.0339	L	0.59436	1.845	0.50813	D	0.999897	B;B	0.26744	0.158;0.017	B;B	0.24155	0.051;0.026	T	0.07177	-1.0786	10	0.33940	T	0.23	.	6.7063	0.23252	0.0:0.1897:0.117:0.6933	.	295;424	B7Z6T2;O15327	.;INP4B_HUMAN	L	424;424;424;295;424;424;239;239;424;295	ENSP00000425487:I424L;ENSP00000262992:I424L;ENSP00000308441:I424L;ENSP00000423954:I424L;ENSP00000422793:I424L;ENSP00000426207:I239L;ENSP00000427250:I424L;ENSP00000421065:I295L	ENSP00000262992:I424L	I	-	1	0	INPP4B	143314324	1.000000	0.71417	0.829000	0.32907	0.583000	0.36354	1.771000	0.38542	-0.102000	0.12197	-2.258000	0.00281	ATA	INPP4B	-	NULL	ENSG00000109452		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	584	0.00	0	T	NM_003866		143094874	143094874	-1	no_errors	ENST00000509777	ensembl	human	known	69_37n	missense	268	15.72	50	SNP	0.997	G
LECT1	11061	genome.wustl.edu	37	13	53298164	53298164	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr13:53298164C>T	ENST00000377962.3	-	4	514	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	LECT1_ENST00000448904.2_Missense_Mutation_p.A146T			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	146	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.A146T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTGGTCACGGCGCCCACCTCA	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											150.0	109.0	123.0					13																	53298164		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.436G>A	13.37:g.53298164C>T	ENSP00000367198:p.Ala146Thr		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.A146T	ENST00000377962.3	37	c.436	CCDS9437.1	13	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772677	0.31411	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.80123	-1.34;-1.34;-1.34	6.05	-0.907	0.10521	BRICHOS (2);	0.791166	0.12537	N	0.460246	T	0.68293	0.2985	L	0.50333	1.59	0.30285	N	0.790986	B;B	0.18863	0.007;0.031	B;B	0.14578	0.003;0.011	T	0.55023	-0.8205	10	0.11485	T	0.65	.	6.7227	0.23338	0.0:0.3899:0.129:0.4811	.	146;146	O75829-2;O75829	.;LECT1_HUMAN	T	146;146;68	ENSP00000388576:A146T;ENSP00000367198:A146T;ENSP00000396035:A68T	ENSP00000367198:A146T	A	-	1	0	LECT1	52196165	0.905000	0.30787	0.821000	0.32701	0.961000	0.63080	-0.083000	0.11286	-0.039000	0.13602	-0.302000	0.09304	GCC	LECT1	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	ENSG00000136110		0.483	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	122	0.00	0	C			53298164	53298164	-1	no_errors	ENST00000377962	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	0.732	T
MAP7D2	256714	genome.wustl.edu	37	X	20070998	20070998	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:20070998C>G	ENST00000379651.3	-	5	611	c.593G>C	c.(592-594)cGa>cCa	p.R198P	MAP7D2_ENST00000443379.3_Intron|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R154P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R198P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R91P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	198					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.R198P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCACTTGCCTCGGTCTGGGGA	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											187.0	154.0	165.0					X																	20070998		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.593G>C	X.37:g.20070998C>G	ENSP00000368972:p.Arg198Pro		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	pfam_E-MAP-115	p.R198P	ENST00000379651.3	37	c.593	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834358	0.50951	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000452324;ENST00000330274	T;T;T;T	0.11169	2.8;2.8;3.3;2.8	5.47	2.27	0.28462	.	0.089843	0.46145	D	0.000303	T	0.26048	0.0635	M	0.64170	1.965	0.33113	D	0.540729	D;D;D;D;D	0.89917	0.999;0.999;0.998;0.999;1.0	P;D;D;D;D	0.68943	0.899;0.929;0.95;0.914;0.961	T	0.33523	-0.9865	10	0.87932	D	0	-3.7347	11.2709	0.49138	0.0:0.7568:0.0:0.2432	.	154;198;231;198;91	C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	P	198;198;91;154;231	ENSP00000368972:R198P;ENSP00000368964:R198P;ENSP00000440691:R91P;ENSP00000413301:R154P	ENSP00000332677:R231P	R	-	2	0	MAP7D2	19980919	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.776000	0.38594	0.488000	0.27723	0.600000	0.82982	CGA	MAP7D2	-	NULL	ENSG00000184368		0.453	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	248	0.00	0	C	NM_152780		20070998	20070998	-1	no_errors	ENST00000379643	ensembl	human	known	69_37n	missense	155	12.43	22	SNP	1.000	G
MAGEB16	139604	genome.wustl.edu	37	X	35820494	35820494	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:35820494C>A	ENST00000399989.1	+	2	460	c.181C>A	c.(181-183)Cct>Act	p.P61T	MAGEB16_ENST00000399985.1_Missense_Mutation_p.P61T|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P93T|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P61T|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P61T	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	61								p.P228S(1)|p.P228T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAGAGAGTCCTCTTGAGGT	0.527																																						dbGAP											2	Substitution - Missense(2)	breast(1)|kidney(1)											47.0	45.0	46.0					X																	35820494		1956	4120	6076	-	-	-	SO:0001583	missense	0				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.181C>A	X.37:g.35820494C>A	ENSP00000382871:p.Pro61Thr		A8MU30	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P93T	ENST00000399989.1	37	c.277	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.361264	0.00214	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	3.13	-4.21	0.03812	Melanoma associated antigen, MAGE, N-terminal (1);	2.365020	0.01875	N	0.037498	T	0.02193	0.0068	N	0.04820	-0.15	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.31613	-0.9937	10	0.02654	T	1	.	0.1057	0.00052	0.2641:0.1709:0.2316:0.3333	.	61	A2A368	MAGBG_HUMAN	T	61;93;61;61;61	ENSP00000382870:P61T;ENSP00000382874:P93T;ENSP00000382869:P61T;ENSP00000382871:P61T;ENSP00000382867:P61T	ENSP00000382867:P61T	P	+	1	0	MAGEB16	35730415	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.679000	0.00838	-1.082000	0.03101	-2.341000	0.00245	CCT	MAGEB16	-	pfam_Melanoma_ass_antigen_N	ENSG00000189023		0.527	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	124	0.80	1	C			35820494	35820494	+1	no_errors	ENST00000399992	ensembl	human	known	69_37n	missense	49	47.31	44	SNP	0.000	A
MAX	4149	genome.wustl.edu	37	14	65569045	65569045	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr14:65569045C>T	ENST00000358664.4	-	1	143	c.13G>A	c.(13-15)Gat>Aat	p.D5N	MAX_ENST00000556443.1_Missense_Mutation_p.D5N|MAX_ENST00000246163.2_Missense_Mutation_p.D5N|MAX_ENST00000284165.6_Missense_Mutation_p.D5N|MAX_ENST00000556979.1_Missense_Mutation_p.D5N|MAX_ENST00000555419.1_Missense_Mutation_p.D5N|MAX_ENST00000358402.4_Missense_Mutation_p.D5N|MAX_ENST00000557277.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.D5N|MAX_ENST00000555932.1_Missense_Mutation_p.D5N|MAX_ENST00000341653.2_Missense_Mutation_p.D5N|MAX_ENST00000557746.1_Missense_Mutation_p.D5N	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	5					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.D5N(3)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TCGATGTCATCGTTATCGCTC	0.672																																						dbGAP											3	Substitution - Missense(3)	breast(3)											73.0	61.0	65.0					14																	65569045		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.13G>A	14.37:g.65569045C>T	ENSP00000351490:p.Asp5Asn		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.D5N	ENST00000358664.4	37	c.13	CCDS9771.1	14	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297046	0.81025	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000555932;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D;D	0.99607	-4.04;-4.36;-4.4;-4.53;-4.23;-6.27;-4.19;-4.26;-4.23;-3.87	4.91	3.06	0.35304	.	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	M	0.70595	2.14	0.47183	D	0.999347	B;D;D;P;P;D;D;D	0.89917	0.095;1.0;0.999;0.669;0.782;0.985;0.998;0.999	B;D;P;B;B;P;P;P	0.69479	0.02;0.964;0.895;0.106;0.258;0.707;0.808;0.879	D	0.99529	1.0960	10	0.87932	D	0	-4.8591	8.1556	0.31167	0.0:0.7542:0.1583:0.0875	.	5;5;5;5;5;5;5;5	G3V2N4;Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;.;MAX_HUMAN;.;.	N	5	ENSP00000342482:D5N;ENSP00000351175:D5N;ENSP00000284165:D5N;ENSP00000351490:D5N;ENSP00000452405:D5N;ENSP00000452378:D5N;ENSP00000452286:D5N;ENSP00000452197:D5N;ENSP00000450818:D5N;ENSP00000246163:D5N	ENSP00000246163:D5N	D	-	1	0	MAX	64638798	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.538000	0.67193	0.576000	0.29452	-0.237000	0.12165	GAT	MAX	-	NULL	ENSG00000125952		0.672	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	61	0.00	0	C	NM_197957		65569045	65569045	-1	no_errors	ENST00000358664	ensembl	human	known	69_37n	missense	7	65.00	13	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151945659	151945660	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr7:151945659_151945660insT	ENST00000262189.6	-	14	2077_2078	c.1859_1860insA	c.(1858-1860)tctfs	p.S620fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.S620fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	620					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N621fs*1(2)									CAACTTCATTAGAAATCTGTTT	0.307																																						dbGAP											2	Insertion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1859_1860insA	7.37:g.151945659_151945660insT	ENSP00000262189:p.Ser620fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.N621fs	ENST00000262189.6	37	c.1860_1859	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.307	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	35	0.00	0	-			151945659	151945660	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	21	58.00	29	INS	0.365:0.435	T
MRTO4	51154	genome.wustl.edu	37	1	19584466	19584466	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr1:19584466G>A	ENST00000330263.4	+	6	778	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	161					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A161T(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597																																					GBM(192;2418 3032 7540 48714)	dbGAP											1	Substitution - Missense(1)	breast(1)											30.0	35.0	33.0					1																	19584466		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.481G>A	1.37:g.19584466G>A	ENSP00000364320:p.Ala161Thr		B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0	p.A161T	ENST00000330263.4	37	c.481	CCDS191.1	1	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279836	0.10458	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	1.97	0.26223	.	0.139242	0.64402	N	0.000004	T	0.38931	0.1059	N	0.20574	0.59	0.52501	D	0.999956	B	0.13145	0.007	B	0.06405	0.002	T	0.11012	-1.0605	9	0.44086	T	0.13	-9.6924	9.8397	0.40991	0.1362:0.0:0.7458:0.118	.	161	Q9UKD2	MRT4_HUMAN	T	161	.	ENSP00000364320:A161T	A	+	1	0	MRTO4	19457053	0.997000	0.39634	0.724000	0.30704	0.002000	0.02628	2.484000	0.45242	0.114000	0.18032	-0.940000	0.02684	GCC	MRTO4	-	NULL	ENSG00000053372		0.597	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	HGNC	protein_coding	OTTHUMT00000007075.2	34	0.00	0	G	NM_016183		19584466	19584466	+1	no_errors	ENST00000330263	ensembl	human	known	69_37n	missense	6	62.50	10	SNP	0.898	A
MSN	4478	genome.wustl.edu	37	X	64957138	64957138	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:64957138G>A	ENST00000360270.5	+	10	1361	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	397					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E397K(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TCAAGAAGCTGAAGAGGCCAA	0.567			T	ALK	ALCL																																	dbGAP		Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	breast(1)											32.0	30.0	31.0					X																	64957138		2203	4300	6503	-	-	-	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1189G>A	X.37:g.64957138G>A	ENSP00000353408:p.Glu397Lys			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.E397K	ENST00000360270.5	37	c.1189	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.259449	0.95368	.	.	ENSG00000147065	ENST00000360270	D	0.82619	-1.63	5.49	5.49	0.81192	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	M	0.86953	2.85	0.80722	D	1	P	0.37731	0.607	P	0.49421	0.61	D	0.90602	0.4545	10	0.52906	T	0.07	.	16.8355	0.85956	0.0:0.0:1.0:0.0	.	397	P26038	MOES_HUMAN	K	397	ENSP00000353408:E397K	ENSP00000353408:E397K	E	+	1	0	MSN	64873863	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.756000	0.98918	2.294000	0.77228	0.594000	0.82650	GAA	MSN	-	pirsf_ERM,pfam_ERM_C	ENSG00000147065		0.567	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	54	0.00	0	G	NM_002444		64957138	64957138	+1	no_errors	ENST00000360270	ensembl	human	known	69_37n	missense	23	34.29	12	SNP	1.000	A
NID1	4811	genome.wustl.edu	37	1	236192956	236192956	+	Silent	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr1:236192956C>T	ENST00000264187.6	-	7	1714	c.1632G>A	c.(1630-1632)ggG>ggA	p.G544G	NID1_ENST00000366595.3_Silent_p.G544G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	544	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.G544G(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGGTCAGGTGCCCATGCTCAT	0.617																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											54.0	41.0	46.0					1																	236192956		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1632G>A	1.37:g.236192956C>T			Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.G544	ENST00000264187.6	37	c.1632	CCDS1608.1	1																																																																																			NID1	-	pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000116962		0.617	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	31	0.00	0	C	NM_002508		236192956	236192956	-1	no_errors	ENST00000264187	ensembl	human	known	69_37n	silent	4	55.56	5	SNP	0.789	T
NLRP7	199713	genome.wustl.edu	37	19	55449557	55449557	+	Missense_Mutation	SNP	G	G	A	rs147859947		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr19:55449557G>A	ENST00000590030.1	-	4	2024	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.R662C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R662C|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000446217.1_Missense_Mutation_p.R690C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R662C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	662							ATP binding (GO:0005524)	p.R662C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTCCAGAGGCGAAGAGAGCGA	0.498																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	105.0	106.0					19																	55449557		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1984C>T	19.37:g.55449557G>A	ENSP00000465520:p.Arg662Cys		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R690C	ENST00000590030.1	37	c.2068	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	G	4.265	0.048276	0.08243	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.55052	0.54;0.54	2.19	-4.38	0.03622	.	.	.	.	.	T	0.34077	0.0885	N	0.22421	0.69	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.06405	0.001;0.002;0.002	T	0.18304	-1.0341	9	0.54805	T	0.06	.	9.2485	0.37541	0.6449:0.0:0.3551:0.0	.	690;662;662	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	C	662;662;690;429	ENSP00000339491:R662C;ENSP00000414273:R690C	ENSP00000329568:R662C	R	-	1	0	NLRP7	60141369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.032000	0.12266	-1.363000	0.02164	-0.997000	0.02515	CGC	NLRP7	-	NULL	ENSG00000167634		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	68	0.00	0	G	NM_139176		55449557	55449557	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	missense	9	72.73	24	SNP	0.000	A
NLRP9	338321	genome.wustl.edu	37	19	56243942	56243942	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr19:56243942C>A	ENST00000332836.2	-	2	1282	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	419	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G419W(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCAGATAACCCATTCCTCCGG	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											88.0	90.0	89.0					19																	56243942		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1255G>T	19.37:g.56243942C>A	ENSP00000331857:p.Gly419Trp		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G419W	ENST00000332836.2	37	c.1255	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041300	0.35989	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.87179	-2.22	2.56	1.52	0.23074	.	.	.	.	.	D	0.93281	0.7859	M	0.90082	3.085	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83431	0.0038	9	0.87932	D	0	.	7.5827	0.27974	0.0:0.8638:0.0:0.1362	.	419	Q7RTR0	NALP9_HUMAN	W	419	ENSP00000331857:G419W	ENSP00000331857:G419W	G	-	1	0	NLRP9	60935754	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	0.138000	0.16016	0.678000	0.31325	0.644000	0.83932	GGG	NLRP9	-	NULL	ENSG00000185792		0.483	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	133	0.00	0	C	NM_176820		56243942	56243942	-1	no_errors	ENST00000332836	ensembl	human	known	69_37n	missense	52	18.75	12	SNP	0.006	A
NUP160	23279	genome.wustl.edu	37	11	47833684	47833684	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:47833684T>G	ENST00000378460.2	-	17	2219	c.2173A>C	c.(2173-2175)Agt>Cgt	p.S725R	NUP160_ENST00000528501.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.S611R|NUP160_ENST00000528071.1_Missense_Mutation_p.S611R|NUP160_ENST00000531016.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	725					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.S725R(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAACGAGTACTGGCGATTTTA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	110.0	112.0					11																	47833684		2201	4298	6499	-	-	-	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2173A>C	11.37:g.47833684T>G	ENSP00000367721:p.Ser725Arg		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.S725R	ENST00000378460.2	37	c.2173	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695974	0.30052	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.42900	1.53;0.96;0.96	5.21	4.07	0.47477	.	0.355148	0.33591	N	0.004749	T	0.21761	0.0524	N	0.14661	0.345	0.80722	D	1	B	0.24823	0.112	B	0.17722	0.019	T	0.07424	-1.0773	10	0.17369	T	0.5	.	8.5273	0.33313	0.0:0.1514:0.0:0.8486	.	725	Q12769	NU160_HUMAN	R	725;611;611	ENSP00000367721:S725R;ENSP00000433590:S611R;ENSP00000432367:S611R	ENSP00000367721:S725R	S	-	1	0	NUP160	47790260	0.872000	0.30054	0.993000	0.49108	0.943000	0.58893	1.052000	0.30429	1.957000	0.56846	0.482000	0.46254	AGT	NUP160	-	NULL	ENSG00000030066		0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	232	0.00	0	T	NM_015231		47833684	47833684	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	72	41.94	52	SNP	0.993	G
NPAS4	266743	genome.wustl.edu	37	11	66189989	66189989	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:66189989G>A	ENST00000311034.2	+	3	571	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	132	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R132H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCACTGTGCGCCAGCAACTC	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											149.0	127.0	134.0					11																	66189989		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.395G>A	11.37:g.66189989G>A	ENSP00000311196:p.Arg132His		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.R132H	ENST00000311034.2	37	c.395	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696651	0.68386	.	.	ENSG00000174576	ENST00000311034	T	0.19669	2.13	4.71	4.71	0.59529	PAS (2);	0.000000	0.56097	D	0.000024	T	0.25938	0.0632	M	0.70842	2.15	0.80722	D	1	P	0.47962	0.903	B	0.39094	0.29	T	0.19778	-1.0295	10	0.87932	D	0	-12.4868	15.1955	0.73084	0.0:0.0:1.0:0.0	.	132	Q8IUM7	NPAS4_HUMAN	H	132	ENSP00000311196:R132H	ENSP00000311196:R132H	R	+	2	0	NPAS4	65946565	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.636000	0.67848	2.440000	0.82611	0.563000	0.77884	CGC	NPAS4	-	smart_PAS,pfscan_PAS	ENSG00000174576		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	178	0.56	1	G	NM_178864		66189989	66189989	+1	no_errors	ENST00000311034	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	1.000	A
ODF2	4957	genome.wustl.edu	37	9	131246313	131246313	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr9:131246313C>T	ENST00000434106.3	+	11	1447	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	ODF2_ENST00000372791.3_Missense_Mutation_p.R343C|ODF2_ENST00000372807.5_Missense_Mutation_p.R357C|ODF2_ENST00000393533.2_Missense_Mutation_p.R362C|ODF2_ENST00000604420.1_Missense_Mutation_p.R362C|ODF2_ENST00000351030.3_Missense_Mutation_p.R357C|ODF2_ENST00000372814.3_Missense_Mutation_p.R406C|ODF2_ENST00000546203.1_Missense_Mutation_p.R343C|ODF2_ENST00000448249.3_Missense_Mutation_p.R281C|ODF2_ENST00000444119.2_Missense_Mutation_p.R338C|ODF2_ENST00000393527.3_Missense_Mutation_p.R338C	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	362					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.R338C(2)|p.R362C(1)|p.R406C(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TGAGAACAGTCGCCTGTGCAT	0.542																																						dbGAP											4	Substitution - Missense(4)	breast(3)|large_intestine(1)											92.0	85.0	87.0					9																	131246313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1084C>T	9.37:g.131246313C>T	ENSP00000403453:p.Arg362Cys		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.R362C	ENST00000434106.3	37	c.1084	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344427	0.61073	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;1.21;0.86;0.86;0.86	5.8	3.98	0.46160	.	0.093544	0.85682	D	0.000000	T	0.62816	0.2459	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999;1.0;0.999	T	0.64149	-0.6475	10	0.87932	D	0	-12.0641	11.3762	0.49730	0.0:0.8526:0.0:0.1474	.	343;357;281;296;362;406;357;343;362;338	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	C	362;406;357;362;338;281;343;343	ENSP00000377166:R362C;ENSP00000361901:R406C;ENSP00000342581:R357C;ENSP00000361882:R362C;ENSP00000307781:R338C;ENSP00000396687:R281C;ENSP00000437579:R343C;ENSP00000361877:R343C	ENSP00000307781:R338C	R	+	1	0	ODF2	130286134	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	4.617000	0.61204	0.816000	0.34421	-0.140000	0.14226	CGC	ODF2	-	NULL	ENSG00000136811		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	91	0.00	0	C			131246313	131246313	+1	no_errors	ENST00000372796	ensembl	human	known	69_37n	missense	31	20.00	8	SNP	1.000	T
OFD1	8481	genome.wustl.edu	37	X	13778585	13778585	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:13778585G>A	ENST00000340096.6	+	16	2333	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	OFD1_ENST00000380567.1_Missense_Mutation_p.S529N|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S629N	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	669	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.S669N(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCAGCAAAGAGCCCACCATCT	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											68.0	73.0	71.0					X																	13778585		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2006G>A	X.37:g.13778585G>A	ENSP00000344314:p.Ser669Asn		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.S669N	ENST00000340096.6	37	c.2006	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	15.36	2.811227	0.50527	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.95949	-3.86;-3.84;-1.73	5.67	0.0306	0.14168	.	0.700780	0.14756	N	0.300272	D	0.91250	0.7242	M	0.72118	2.19	0.09310	N	1	B;B;B;B;B	0.28783	0.222;0.11;0.063;0.063;0.11	B;B;B;B;B	0.28553	0.091;0.031;0.067;0.023;0.031	T	0.78745	-0.2084	10	0.18276	T	0.48	-0.2571	1.2584	0.01996	0.1633:0.3099:0.2243:0.3026	.	669;629;337;529;669	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	N	629;669;529	ENSP00000369923:S629N;ENSP00000344314:S669N;ENSP00000369941:S529N	ENSP00000344314:S669N	S	+	2	0	OFD1	13688506	0.009000	0.17119	0.000000	0.03702	0.764000	0.43329	0.264000	0.18497	-0.138000	0.11434	0.529000	0.55759	AGC	OFD1	-	NULL	ENSG00000046651		0.473	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	86	0.00	0	G	NM_003611		13778585	13778585	+1	no_errors	ENST00000340096	ensembl	human	known	69_37n	missense	39	45.07	32	SNP	0.001	A
OPLAH	26873	genome.wustl.edu	37	8	145107769	145107769	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr8:145107769G>C	ENST00000426825.1	-	22	3134	c.3053C>G	c.(3052-3054)cCg>cGg	p.P1018R	CTD-3065J16.6_ENST00000561181.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1018					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.P1018R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAACACCTCCGGCCCAGTGCC	0.682																																						dbGAP											1	Substitution - Missense(1)	breast(1)											24.0	30.0	28.0					8																	145107769		2007	4058	6065	-	-	-	SO:0001583	missense	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3053C>G	8.37:g.145107769G>C	ENSP00000475943:p.Pro1018Arg		A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8	.	.	.	.	.	.	.	.	.	.	G	3.566	-0.088640	0.07097	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.4	4.4	0.53042	.	0.344907	0.33959	N	0.004382	T	0.48169	0.1485	.	.	.	0.27983	N	0.93597	B	0.34349	0.45	B	0.39339	0.297	T	0.63761	-0.6564	7	0.52906	T	0.07	.	10.1444	0.42755	0.0:0.0:0.8001:0.1999	.	1018	O14841	OPLA_HUMAN	R	1018	.	ENSP00000412071:P1018R	P	-	2	0	OPLAH	145179757	1.000000	0.71417	0.030000	0.17652	0.041000	0.13682	3.688000	0.54699	2.151000	0.67156	0.549000	0.68633	CCG	OPLAH	-	-	ENSG00000178814		0.682	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		37	0.00	0	G	NM_017570		145107769	145107769	-1	no_errors	ENST00000426825	ensembl	human	known	69_37n	rna	38	17.39	8	SNP	0.505	C
OR2J1	442185	genome.wustl.edu	37	6	29069038	29069038	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr6:29069038G>A	ENST00000377171.3	+	1	653	c.319G>A	c.(319-321)Gca>Aca	p.A107T				Q9GZK6	OR2J1_HUMAN	olfactory receptor, family 2, subfamily J, member 1 (gene/pseudogene)	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A105T(1)		breast(1)|lung(6)	7						CTTTGTTCTCGCACTGGGAAC	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-	SO:0001583	missense	0					6p22.2-p21.31	2012-08-09	2011-08-30	2004-05-28	ENSG00000204702	ENSG00000204702		"""GPCR / Class A : Olfactory receptors"""	8259	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily J, member 1 pseudogene"", ""olfactory receptor, family 2, subfamily J, member 1"""	OR2J1P			Standard	NG_004683		Approved	OR6-5, hs6M1-4, dJ80I19.2		Q9GZK6	OTTHUMG00000031280	ENST00000377171.3:c.319G>A	6.37:g.29069038G>A	ENSP00000366376:p.Ala107Thr		A2AAS1|B0V1T2|Q9GZK1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A107T	ENST00000377171.3	37	c.319		6	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148429	0.37923	.	.	ENSG00000204702	ENST00000377171	T	0.02140	4.43	2.34	1.27	0.21489	.	.	.	.	.	T	0.00998	0.0033	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51212	-0.8734	6	0.38643	T	0.18	.	7.1423	0.25562	0.0:0.0:0.4377:0.5623	.	.	.	.	T	107	ENSP00000366376:A107T	ENSP00000366376:A107T	A	+	1	0	OR2J1	29177017	0.000000	0.05858	0.441000	0.26858	0.588000	0.36517	-0.391000	0.07323	1.305000	0.44909	0.586000	0.80456	GCA	OR2J1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204702		0.507	OR2J1-001	KNOWN	basic|appris_principal	protein_coding	OR2J1	HGNC	protein_coding	OTTHUMT00000076612.2	96	0.00	0	G	NG_004683		29069038	29069038	+1	no_errors	ENST00000377171	ensembl	human	known	69_37n	missense	104	12.61	15	SNP	0.002	A
OR5D13	390142	genome.wustl.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:55541605G>A	ENST00000361760.1	+	1	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGAAGATGCGATCTGCAAGT	0.423																																						dbGAP											3	Substitution - Missense(3)	large_intestine(1)|breast(1)|endometrium(1)											135.0	122.0	126.0					11																	55541605		2200	4296	6496	-	-	-	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.692G>A	11.37:g.55541605G>A	ENSP00000354800:p.Arg231Gln		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R231Q	ENST00000361760.1	37	c.692	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	G	6.694	0.496622	0.12762	.	.	ENSG00000198877	ENST00000361760	T	0.37915	1.17	3.82	-0.998	0.10212	GPCR, rhodopsin-like superfamily (1);	0.816593	0.09968	U	0.732586	T	0.17365	0.0417	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21109	-1.0255	10	0.36615	T	0.2	-1.989	4.7836	0.13215	0.134:0.38:0.3972:0.0887	.	231	Q8NGL4	OR5DD_HUMAN	Q	231	ENSP00000354800:R231Q	ENSP00000354800:R231Q	R	+	2	0	OR5D13	55298181	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-0.041000	0.13558	-2.100000	0.00362	CGA	OR5D13	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198877		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	194	0.00	0	G	NM_001001967		55541605	55541605	+1	no_errors	ENST00000361760	ensembl	human	known	69_37n	missense	78	36.59	45	SNP	0.000	A
OR7G2	390882	genome.wustl.edu	37	19	9213395	9213395	+	Silent	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr19:9213395C>T	ENST00000305456.2	-	1	587	c.588G>A	c.(586-588)ccG>ccA	p.P196P		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P196P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGAAGAAGAGCGGGATTTCCA	0.478																																					Esophageal Squamous(67;143 1448 28637 40648)	dbGAP											1	Substitution - coding silent(1)	breast(1)											99.0	86.0	90.0					19																	9213395		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.588G>A	19.37:g.9213395C>T			Q6IFJ4|Q96RA0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P196	ENST00000305456.2	37	c.588	CCDS32897.1	19																																																																																			OR7G2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170923		0.478	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G2	HGNC	protein_coding	OTTHUMT00000448994.1	101	0.00	0	C			9213395	9213395	-1	no_errors	ENST00000305456	ensembl	human	known	69_37n	silent	55	17.65	12	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	120	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	39	61.54	64	SNP	1.000	A
PLD2	5338	genome.wustl.edu	37	17	4722079	4722079	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr17:4722079C>T	ENST00000263088.6	+	21	2265	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	PLD2_ENST00000572940.1_Missense_Mutation_p.R712C	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	712	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.R712C(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACCCTGTGTCGTGGGGAGTA	0.612																																						dbGAP											2	Substitution - Missense(2)	breast(2)											83.0	91.0	88.0					17																	4722079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2134C>T	17.37:g.4722079C>T	ENSP00000263088:p.Arg712Cys		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.R712C	ENST00000263088.6	37	c.2134	CCDS11057.1	17	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695889	0.68386	.	.	ENSG00000129219	ENST00000263088	T	0.38077	1.16	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76550	-0.2918	10	0.87932	D	0	-9.1162	9.6322	0.39787	0.2083:0.7917:0.0:0.0	.	712;712	O14939-2;O14939	.;PLD2_HUMAN	C	712	ENSP00000263088:R712C	ENSP00000263088:R712C	R	+	1	0	PLD2	4669045	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.824000	0.27379	2.257000	0.74773	0.655000	0.94253	CGT	PLD2	-	pirsf_PLipase_D_euk	ENSG00000129219		0.612	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3	173	0.00	0	C	NM_002663		4722079	4722079	+1	no_errors	ENST00000263088	ensembl	human	known	69_37n	missense	33	65.62	63	SNP	1.000	T
RGS10	6001	genome.wustl.edu	37	10	121275051	121275051	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr10:121275051G>C	ENST00000369101.3	-	3	372	c.345C>G	c.(343-345)caC>caG	p.H115Q	RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Missense_Mutation_p.H123Q|RGS10_ENST00000392865.1_Missense_Mutation_p.H109Q			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	115	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H123Q(1)		breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACATCAGAGGGTGCGGTTCTT	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											186.0	154.0	165.0					10																	121275051		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.345C>G	10.37:g.121275051G>C	ENSP00000358097:p.His115Gln		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.H123Q	ENST00000369101.3	37	c.369		10	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121589	0.56613	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.01821	4.62;4.62;4.62	5.35	0.895	0.19247	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.06416	0.0165	L	0.60904	1.88	0.47308	D	0.999388	D;D;D	0.69078	0.997;0.993;0.994	D;D;D	0.80764	0.993;0.989;0.994	T	0.15292	-1.0442	10	0.44086	T	0.13	-16.3344	11.1238	0.48306	0.3037:0.0:0.6963:0.0	.	123;109;115	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	Q	109;123;115	ENSP00000376605:H109Q;ENSP00000358099:H123Q;ENSP00000358097:H115Q	ENSP00000358097:H115Q	H	-	3	2	RGS10	121265041	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	0.762000	0.26503	0.260000	0.21731	-0.391000	0.06502	CAC	RGS10	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000148908		0.507	RGS10-002	KNOWN	basic	protein_coding	RGS10	HGNC	protein_coding	OTTHUMT00000050655.1	257	0.00	0	G	NM_002925		121275051	121275051	-1	no_errors	ENST00000369103	ensembl	human	known	69_37n	missense	98	20.16	25	SNP	0.998	C
RHOXF2	84528	genome.wustl.edu	37	X	119293026	119293026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chrX:119293026C>A	ENST00000371388.3	+	2	375	c.185C>A	c.(184-186)tCg>tAg	p.S62*		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	62					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S62*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						AAGTTAAAGTCGGCAGGAGCC	0.562																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											4.0	5.0	4.0					X																	119293026		1403	2988	4391	-	-	-	SO:0001587	stop_gained	0				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.185C>A	X.37:g.119293026C>A	ENSP00000360441:p.Ser62*		Q9BR00	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S62*	ENST00000371388.3	37	c.185	CCDS14594.1	X	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281617	0.40394	.	.	ENSG00000131721	ENST00000371388	.	.	.	2.26	-4.52	0.03472	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-1.5233	1.5	0.02474	0.149:0.4252:0.2071:0.2187	.	.	.	.	X	62	.	ENSP00000360441:S62X	S	+	2	0	RHOXF2	119177054	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.750000	0.01822	-4.841000	0.00030	-2.905000	0.00092	TCG	RHOXF2	-	NULL	ENSG00000131721		0.562	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	HGNC	protein_coding	OTTHUMT00000411977.1	88	0.00	0	C	NM_032498		119293026	119293026	+1	no_errors	ENST00000371388	ensembl	human	known	69_37n	nonsense	27	46.00	23	SNP	0.000	A
RRP7B	91695	genome.wustl.edu	37	22	42973961	42973961	+	RNA	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr22:42973961C>T	ENST00000357802.2	-	0	260							Q9NSQ0	RRP7B_HUMAN	ribosomal RNA processing 7 homolog B (S. cerevisiae)																		GCAGGACAGGCTCTCCTGCTG	0.607																																						dbGAP											0																																										-	-	-			0					22q13.2	2011-05-25				ENSG00000182841			30454	pseudogene	pseudogene							Standard	NR_002184		Approved	dJ222E13.2	uc003bcs.3	Q9NSQ0			22.37:g.42973961C>T				RNA	SNP	-	NULL	ENST00000357802.2	37	NULL		22																																																																																			RRP7B	-	-	ENSG00000182841		0.607	RRP7B-001	KNOWN	basic|exp_conf	processed_transcript	RRP7B	HGNC	pseudogene	OTTHUMT00000320446.1	20	0.00	0	C	NM_170698		42973961	42973961	-1	no_errors	ENST00000357802	ensembl	human	known	69_37n	rna	1	85.71	6	SNP	0.631	T
RUSC1	23623	genome.wustl.edu	37	1	155295350	155295350	+	Intron	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr1:155295350G>A	ENST00000368352.5	+	6	1859				RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000462780.1_Intron|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368347.4_Intron|RUSC1_ENST00000368349.4_Intron|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Intron	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.?(3)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGCACCCCACGTTCTCAGGCT	0.677											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											3	Unknown(3)	breast(3)											39.0	45.0	43.0					1																	155295350		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1709-8G>A	1.37:g.155295350G>A		1769	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	RNA	SNP	-	NULL	ENST00000368352.5	37	NULL	CCDS41410.1	1																																																																																			RUSC1	-	-	ENSG00000160753		0.677	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUSC1	HGNC	protein_coding	OTTHUMT00000039071.1	63	0.00	0	G			155295350	155295350	+1	no_errors	ENST00000473331	ensembl	human	known	69_37n	rna	29	29.27	12	SNP	0.022	A
SGCZ	137868	genome.wustl.edu	37	8	14412342	14412342	+	Nonsense_Mutation	SNP	G	G	A	rs74754257		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr8:14412342G>A	ENST00000382080.1	-	2	848	c.133C>T	c.(133-135)Cga>Tga	p.R45*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.R32*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	32					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACCTCTTTCGCCATCCATAA	0.388																																						dbGAP											0													233.0	220.0	225.0					8																	14412342		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.133C>T	8.37:g.14412342G>A	ENSP00000371512:p.Arg45*		Q6REU0	Nonsense_Mutation	SNP	pfam_Sarcoglycan	p.R45*	ENST00000382080.1	37	c.133	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	G	45	11.935510	0.99619	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	.	.	.	5.39	4.4	0.53042	.	0.118074	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8703	0.70450	0.0:0.0:0.8192:0.1808	.	.	.	.	X	45;32	.	ENSP00000371512:R45X	R	-	1	2	SGCZ	14456713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.499000	0.45372	2.708000	0.92522	0.650000	0.86243	CGA	SGCZ	-	pfam_Sarcoglycan	ENSG00000185053		0.388	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	314	0.00	0	G	NM_139167		14412342	14412342	-1	no_errors	ENST00000382080	ensembl	human	known	69_37n	nonsense	51	58.20	71	SNP	1.000	A
SLAMF7	57823	genome.wustl.edu	37	1	160718252	160718252	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr1:160718252C>A	ENST00000368043.3	+	2	361	c.324C>A	c.(322-324)taC>taA	p.Y108*	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000359331.4_Nonsense_Mutation_p.Y108*|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000444090.2_Nonsense_Mutation_p.Y108*|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Nonsense_Mutation_p.Y108*	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	108	Ig-like V-type.				cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.Y108*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGGGATATACAGCTCATCAC	0.512																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											103.0	92.0	96.0					1																	160718252		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.324C>A	1.37:g.160718252C>A	ENSP00000357022:p.Tyr108*		A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.Y108*	ENST00000368043.3	37	c.324	CCDS1209.1	1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977902	0.34942	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	.	.	.	4.59	2.57	0.30868	.	0.898647	0.09737	N	0.762404	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6757	5.1156	0.14833	0.2043:0.6904:0.0:0.1053	.	.	.	.	X	108	.	.	Y	+	3	2	SLAMF7	158984876	0.009000	0.17119	0.020000	0.16555	0.014000	0.08584	1.143000	0.31553	1.276000	0.44395	0.557000	0.71058	TAC	SLAMF7	-	pfam_Ig_V-set	ENSG00000026751		0.512	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	HGNC	protein_coding	OTTHUMT00000060464.1	96	0.00	0	C	NM_021181		160718252	160718252	+1	no_errors	ENST00000368043	ensembl	human	known	69_37n	nonsense	56	13.85	9	SNP	0.004	A
SPTBN1	6711	genome.wustl.edu	37	2	54753679	54753679	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr2:54753679C>T	ENST00000356805.4	+	2	405	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	42	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.R42W(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCTTTTTGAGCGGTCCCGCAT	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											109.0	99.0	102.0					2																	54753679		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.124C>T	2.37:g.54753679C>T	ENSP00000349259:p.Arg42Trp		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R42W	ENST00000356805.4	37	c.124	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588461	0.86851	.	.	ENSG00000115306	ENST00000356805;ENST00000389980	T;T	0.27557	1.66;1.66	5.77	4.87	0.63330	Calponin homology domain (1);	0.200029	0.44285	D	0.000468	T	0.58250	0.2109	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64841	-0.6312	10	0.87932	D	0	.	13.3221	0.60438	0.4072:0.5928:0.0:0.0	.	42	Q01082	SPTB2_HUMAN	W	42	ENSP00000349259:R42W;ENSP00000374630:R42W	ENSP00000349259:R42W	R	+	1	2	SPTBN1	54607183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.401000	0.44513	1.378000	0.46305	0.650000	0.86243	CGG	SPTBN1	-	pirsf_Spectrin_bsu,superfamily_CH-domain	ENSG00000115306		0.532	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	97	0.00	0	C			54753679	54753679	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	1.000	T
TMC7	79905	genome.wustl.edu	37	16	19063095	19063095	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr16:19063095G>A	ENST00000304381.5	+	13	1958	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	TMC7_ENST00000569532.1_Missense_Mutation_p.G610R|TMC7_ENST00000421369.3_Missense_Mutation_p.G500R	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	610					ion transport (GO:0006811)	integral component of membrane (GO:0016021)		p.G610R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GTTGTTGATCGGGCTGTGTTT	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											261.0	239.0	246.0					16																	19063095		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1828G>A	16.37:g.19063095G>A	ENSP00000304710:p.Gly610Arg		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.G610R	ENST00000304381.5	37	c.1828	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756996	0.89843	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.73258	-0.65;-0.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	D	0.85514	0.1199	10	0.45353	T	0.12	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	610;610	Q7Z402;B3KSZ3	TMC7_HUMAN;.	R	610;500	ENSP00000304710:G610R;ENSP00000397081:G500R	ENSP00000304710:G610R	G	+	1	0	TMC7	18970596	1.000000	0.71417	0.877000	0.34402	0.755000	0.42902	8.782000	0.91809	2.634000	0.89283	0.655000	0.94253	GGG	TMC7	-	NULL	ENSG00000170537		0.433	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	309	0.00	0	G	NM_024847		19063095	19063095	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	missense	157	16.93	32	SNP	1.000	A
TMPRSS4	56649	genome.wustl.edu	37	11	117988053	117988053	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:117988053G>A	ENST00000437212.3	+	12	1400	c.1186G>A	c.(1186-1188)Gac>Aac	p.D396N	TMPRSS4_ENST00000522307.1_Missense_Mutation_p.D249N|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.D391N|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.D356N|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.D394N|TMPRSS4_ENST00000518413.2_3'UTR			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	396	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D396N(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GTACCAATCTGACCAGTGGCA	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											172.0	146.0	155.0					11																	117988053		2200	4296	6496	-	-	-	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"""Serine peptidases / Transmembrane"""	11878	protein-coding gene	gene with protein product	"""transmembrane serine protease 3"", ""membrane-type serine protease 2"", ""type II membrane serine protease"""	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1186G>A	11.37:g.117988053G>A	ENSP00000416037:p.Asp396Asn		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D396N	ENST00000437212.3	37	c.1186	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170044	0.57584	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.06	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.777035	0.11651	N	0.542743	T	0.46639	0.1403	N	0.16201	0.385	0.20873	N	0.999835	B;B;P;B;P	0.37594	0.095;0.352;0.601;0.452;0.496	B;B;B;P;B	0.46144	0.053;0.175;0.245;0.505;0.295	T	0.22417	-1.0217	10	0.08599	T	0.76	.	12.8846	0.58036	0.0825:0.0:0.9175:0.0	.	371;356;249;396;394	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	N	394;249;356;396;391	ENSP00000435184:D394N;ENSP00000428814:D249N;ENSP00000429209:D356N;ENSP00000416037:D396N;ENSP00000430547:D391N	ENSP00000416037:D396N	D	+	1	0	TMPRSS4	117493263	0.000000	0.05858	0.515000	0.27774	0.876000	0.50452	0.630000	0.24553	2.342000	0.79632	0.563000	0.77884	GAC	TMPRSS4	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000137648		0.602	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	162	0.00	0	G	NM_019894		117988053	117988053	+1	no_errors	ENST00000437212	ensembl	human	known	69_37n	missense	147	28.29	58	SNP	0.340	A
TP53	7157	genome.wustl.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr17:7577517A>C	ENST00000269305.4	-	7	953	c.764T>G	c.(763-765)aTc>aGc	p.I255S	TP53_ENST00000413465.2_Missense_Mutation_p.I255S|TP53_ENST00000455263.2_Missense_Mutation_p.I255S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.I255S|TP53_ENST00000359597.4_Missense_Mutation_p.I255S|TP53_ENST00000420246.2_Missense_Mutation_p.I255S	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		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.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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)	TTCCAGTGTGATGATGGTGAG	0.582		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"""	44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)											145.0	104.0	118.0					17																	7577517		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.764T>G	17.37:g.7577517A>C	ENSP00000269305:p.Ile255Ser		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.I255S	ENST00000269305.4	37	c.764	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251627	0.59212	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.99654	0.9872	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.994;0.999;1.0;1.0	D;P;D;D;D	0.87578	0.996;0.901;0.996;0.998;0.998	D	0.97461	1.0034	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	255;255;255;255;255;255;244;123	ENSP00000410739:I255S;ENSP00000352610:I255S;ENSP00000269305:I255S;ENSP00000398846:I255S;ENSP00000391127:I255S;ENSP00000391478:I255S;ENSP00000425104:I123S	ENSP00000269305:I255S	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	146	0.00	0	A	NM_000546		7577517	7577517	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	10	75.00	30	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179452261	179452261	+	Missense_Mutation	SNP	C	C	G	rs371286595		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr2:179452261C>G	ENST00000591111.1	-	256	59076	c.58852G>C	c.(58852-58854)Gta>Cta	p.V19618L	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V12194L|TTN_ENST00000342175.6_Missense_Mutation_p.V12386L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V21259L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12319L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V18691L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19618					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)	p.V12194L(1)|p.V12386L(1)|p.V12319L(1)|p.V18691L(1)|p.V18689L(1)		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)			CTGACATTTACGAATACAGCC	0.408																																						dbGAP											5	Substitution - Missense(5)	breast(5)											79.0	69.0	73.0					2																	179452261		1869	4093	5962	-	-	-	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.58852G>C	2.37:g.179452261C>G	ENSP00000465570:p.Val19618Leu		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.V18691L	ENST00000591111.1	37	c.56071		2	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266705	0.59540	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81631	0.4863	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.81642	-0.0840	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12194;12319;12386;19618	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	18691;12194;12386;12319;12192	ENSP00000343764:V18691L;ENSP00000434586:V12194L;ENSP00000340554:V12386L;ENSP00000352154:V12319L	ENSP00000340554:V12386L	V	-	1	0	TTN	179160507	1.000000	0.71417	0.971000	0.41717	0.973000	0.67179	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GTA	TTN	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	152	0.00	0	C	NM_133378		179452261	179452261	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	64	31.18	29	SNP	1.000	G
VPS36	51028	genome.wustl.edu	37	13	52990193	52990193	+	Silent	SNP	A	A	G			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr13:52990193A>G	ENST00000378060.4	-	13	1053	c.1026T>C	c.(1024-1026)ttT>ttC	p.F342F		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	342					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.F342F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CAAGCTTAGCAAACTCTTCTG	0.358																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											113.0	104.0	107.0					13																	52990193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.1026T>C	13.37:g.52990193A>G			A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	pfam_EAP30,pfam_VPS36_GLUE	p.F342	ENST00000378060.4	37	c.1026	CCDS9434.1	13																																																																																			VPS36	-	pfam_EAP30	ENSG00000136100		0.358	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3	128	0.00	0	A			52990193	52990193	-1	no_errors	ENST00000378060	ensembl	human	known	69_37n	silent	64	20.99	17	SNP	1.000	G
VWF	7450	genome.wustl.edu	37	12	6230460	6230460	+	Nonsense_Mutation	SNP	G	G	A	rs61753984		TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr12:6230460G>A	ENST00000261405.5	-	3	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	VWF_ENST00000545906.1_5'Flank|VWF_ENST00000572068.1_Nonsense_Mutation_p.R71*	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	34	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R34*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCTGCATCGGGCCGTGGAT	0.587																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)	GRCh37	CM061228	VWF	M	rs61753984						69.0	58.0	62.0					12																	6230460		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.100C>T	12.37:g.6230460G>A	ENSP00000261405:p.Arg34*		Q8TCE8|Q99806	Nonsense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R34*	ENST00000261405.5	37	c.100	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.924946	0.97940	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.49	4.57	0.56435	.	0.000000	0.35615	N	0.003090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.204	0.65724	0.0:0.0:0.8493:0.1507	.	.	.	.	X	34	.	ENSP00000261405:R34X	R	-	1	2	VWF	6100721	1.000000	0.71417	0.648000	0.29521	0.269000	0.26545	3.598000	0.54038	1.269000	0.44280	0.491000	0.48974	CGA	VWF	-	pirsf_VWF,smart_VWF_type-D	ENSG00000110799		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	93	0.00	0	G	NM_000552		6230460	6230460	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	nonsense	12	68.42	26	SNP	0.642	A
WDFY4	57705	genome.wustl.edu	37	10	50165257	50165257	+	Silent	SNP	C	C	T	rs143080919	byFrequency	TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr10:50165257C>T	ENST00000325239.5	+	51	8088	c.8061C>T	c.(8059-8061)gaC>gaT	p.D2687D	WDFY4_ENST00000465910.1_3'UTR|WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2687	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					integral component of membrane (GO:0016021)		p.D2687D(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						ACATGAGTGACGTCAGGGAGC	0.582													c|||	2	0.000399361	0.0008	0.0	5008	,	,		21286	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											85.0	93.0	90.0					10																	50165257		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8061C>T	10.37:g.50165257C>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1778C	ENST00000325239.5	37	c.5332	CCDS44385.1	10	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	c|c	8.999|8.999	0.979605|0.979605	0.18812|0.18812	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000312002|ENST00000265453	.|.	.|.	.|.	5.57|5.57	-5.59|-5.59	0.02505|0.02505	.|.	.|.	.|.	.|.	.|.	T|T	0.65291|0.65291	0.2677|0.2677	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.66658|0.66658	-0.5868|-0.5868	4|4	.|.	.|.	.|.	.|.	16.6939|16.6939	0.85329|0.85329	0.0:0.264:0.0:0.736|0.0:0.264:0.0:0.736	.|.	.|.	.|.	.|.	C|M	1778|774	.|.	.|.	R|T	+|+	1|2	0|0	WDFY4|WDFY4	49835263|49835263	0.001000|0.001000	0.12720|0.12720	0.780000|0.780000	0.31762|0.31762	0.990000|0.990000	0.78478|0.78478	-1.591000|-1.591000	0.02100|0.02100	-1.233000|-1.233000	0.02551|0.02551	-0.320000|-0.320000	0.08662|0.08662	CGT|ACG	WDFY4	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000128815		0.582	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		115	0.00	0	C	XM_033379		50165257	50165257	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000312002	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.421	T
ZFC3H1	196441	genome.wustl.edu	37	12	72027055	72027055	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr12:72027055G>C	ENST00000378743.3	-	13	3032	c.2674C>G	c.(2674-2676)Ctt>Gtt	p.L892V		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	892					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L892V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGTTCCTGAAGCTTCTTCAAA	0.303																																						dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	46.0	48.0					12																	72027055		1797	4048	5845	-	-	-	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2674C>G	12.37:g.72027055G>C	ENSP00000368017:p.Leu892Val		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.L892V	ENST00000378743.3	37	c.2674	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006533	0.35415	.	.	ENSG00000133858	ENST00000378743	T	0.42131	0.98	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000004	T	0.24353	0.0590	N	0.19112	0.55	0.80722	D	1	P	0.40083	0.702	B	0.28139	0.086	T	0.07328	-1.0778	10	0.27785	T	0.31	.	14.8228	0.70085	0.0:0.0:0.8555:0.1445	.	892	O60293	ZC3H1_HUMAN	V	892	ENSP00000368017:L892V	ENSP00000368017:L892V	L	-	1	0	ZFC3H1	70313322	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.134000	0.71689	2.326000	0.78906	0.460000	0.39030	CTT	ZFC3H1	-	NULL	ENSG00000133858		0.303	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	101	0.00	0	G	NM_144982		72027055	72027055	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	missense	150	10.71	18	SNP	1.000	C
ZP1	22917	genome.wustl.edu	37	11	60637860	60637860	+	Silent	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:60637860C>T	ENST00000278853.5	+	4	738	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	246	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.I246I(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCCTGCATCGTGAGAAGAA	0.562																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	62.0	64.0					11																	60637860		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.738C>T	11.37:g.60637860C>T				Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.I246	ENST00000278853.5	37	c.738	CCDS31572.1	11																																																																																			ZP1	-	superfamily_P_trefoil,smart_P_trefoil	ENSG00000149506		0.562	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1	82	0.00	0	C	NM_207341		60637860	60637860	+1	no_errors	ENST00000278853	ensembl	human	known	69_37n	silent	25	26.47	9	SNP	0.000	T
ZP1	22917	genome.wustl.edu	37	11	60640695	60640695	+	Silent	SNP	C	C	T			TCGA-A2-A0YT-01A-11D-A10G-09	TCGA-A2-A0YT-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	827c6a2f-fb1b-4845-9cb1-11013a16da3f	75eb756e-e38e-4f94-867e-b4eabdf71c79	g.chr11:60640695C>T	ENST00000278853.5	+	7	1173	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	391	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.F391F(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATCCATTTTCCCACCCCCAT	0.592																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											163.0	136.0	145.0					11																	60640695		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1173C>T	11.37:g.60640695C>T				Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.F391	ENST00000278853.5	37	c.1173	CCDS31572.1	11																																																																																			ZP1	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105	ENSG00000149506		0.592	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	HGNC	protein_coding	OTTHUMT00000396329.1	113	0.00	0	C	NM_207341		60640695	60640695	+1	no_errors	ENST00000278853	ensembl	human	known	69_37n	silent	42	44.00	33	SNP	0.012	T
