#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABL1	25	genome.wustl.edu	37	9	133759698	133759698	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr9:133759698G>A	ENST00000318560.5	+	11	2402	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	674					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGAGCCCTCCGGGAGTCCGGG	0.677			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													14.0	18.0	16.0					9																	133759698		2175	4235	6410	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2021G>A	9.37:g.133759698G>A	ENSP00000323315:p.Arg674Gln		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R693Q	ENST00000318560.5	37	c.2078	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	7.857	0.725337	0.15439	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.14516	2.5;2.5	3.43	3.43	0.39272	.	0.000000	0.43110	D	0.000606	T	0.08223	0.0205	L	0.44542	1.39	0.33172	D	0.548345	P;P	0.44090	0.826;0.826	B;B	0.36808	0.233;0.233	T	0.04855	-1.0922	10	0.08381	T	0.77	.	6.8106	0.23802	0.1247:0.0:0.8753:0.0	.	674;711	P00519;Q59FK4	ABL1_HUMAN;.	Q	489;693;674	ENSP00000361423:R693Q;ENSP00000323315:R674Q	ENSP00000323315:R674Q	R	+	2	0	ABL1	132749519	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.073000	0.57570	2.252000	0.74401	0.561000	0.74099	CGG	ABL1	-	NULL		0.677	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	G	NM_007313		133759698	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	1.000	A
AKR1E2	83592	genome.wustl.edu	37	10	4877913	4877913	+	Missense_Mutation	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:4877913G>T	ENST00000298375.7	+	4	442	c.371G>T	c.(370-372)tGc>tTc	p.C124F	AKR1E2_ENST00000532248.1_Missense_Mutation_p.C124F|AKR1E2_ENST00000334019.4_Missense_Mutation_p.C124F|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.C124F	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	124						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTTTCCTTCTGCCTCTCACAT	0.493																																					NSCLC(43;343 1097 20371 28813 45509)												0													111.0	86.0	94.0					10																	4877913		2203	4300	6503	SO:0001583	missense	83592			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.371G>T	10.37:g.4877913G>T	ENSP00000298375:p.Cys124Phe		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.C124F	ENST00000298375.7	37	c.371	CCDS31134.1	10	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020468	0.35606	.	.	ENSG00000165568	ENST00000462718;ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.30182	2.15;1.54;1.83;1.93;2.42	3.85	-1.85	0.07784	NADP-dependent oxidoreductase domain (3);	1.750800	0.03350	N	0.196015	T	0.14614	0.0353	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.22983	0.003;0.063;0.063;0.078;0.063	B;B;B;B;B	0.22880	0.026;0.025;0.025;0.042;0.025	T	0.22487	-1.0215	10	0.38643	T	0.18	.	7.0076	0.24846	0.0:0.2854:0.2733:0.4412	.	85;124;124;124;124	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	F	20;128;124;124;124;124	ENSP00000435436:C128F;ENSP00000298375:C124F;ENSP00000432947:C124F;ENSP00000335034:C124F;ENSP00000335603:C124F	ENSP00000298375:C124F	C	+	2	0	AKR1E2	4867913	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.220000	0.09215	-0.339000	0.08401	0.561000	0.74099	TGC	AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.493	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	G	NM_031436		4877913	+1	no_errors	ENST00000298375	ensembl	human	known	70_37	missense	SNP	0.000	T
ALOXE3	59344	genome.wustl.edu	37	17	8021319	8021319	+	5'UTR	SNP	A	A	G	rs202235772		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:8021319A>G	ENST00000448843.2	-	0	330				ALOXE3_ENST00000380149.1_Missense_Mutation_p.L153P|ALOXE3_ENST00000318227.3_Missense_Mutation_p.L129P	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3						arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GATGGGAAGGAGGAAGGGATG	0.662																																																	0													34.0	29.0	31.0					17																	8021319		2203	4300	6503	SO:0001623	5_prime_UTR_variant	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.-11T>C	17.37:g.8021319A>G			B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C	p.L129P	ENST00000448843.2	37	c.386	CCDS11130.1	17	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526848	0.27299	.	.	ENSG00000179148	ENST00000380149;ENST00000318227	T;T	0.73681	-0.77;-0.76	4.73	0.897	0.19258	.	0.992067	0.08179	N	0.985747	T	0.51075	0.1653	N	0.08118	0	0.09310	N	0.999998	B	0.11235	0.004	B	0.08055	0.003	T	0.42155	-0.9468	10	0.66056	D	0.02	-1.9163	2.9191	0.05762	0.451:0.244:0.305:0.0	.	129	B7Z3W0	.	P	153;129	ENSP00000369494:L153P;ENSP00000314879:L129P	ENSP00000314879:L129P	L	-	2	0	ALOXE3	7962044	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.101000	0.15251	0.164000	0.19529	0.459000	0.35465	CTC	ALOXE3	-	superfamily_Lipase_LipOase		0.662	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOXE3	HGNC	protein_coding	OTTHUMT00000441475.1	A			8021319	-1	no_errors	ENST00000318227	ensembl	human	known	70_37	missense	SNP	0.000	G
AMOTL1	154810	genome.wustl.edu	37	11	94587123	94587123	+	Missense_Mutation	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:94587123A>G	ENST00000433060.2	+	8	1961	c.1820A>G	c.(1819-1821)gAg>gGg	p.E607G	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.E557G	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	607					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCATATGTTGAGAAAGTTGAG	0.517																																																	0													42.0	45.0	44.0					11																	94587123		2015	4182	6197	SO:0001583	missense	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1820A>G	11.37:g.94587123A>G	ENSP00000387739:p.Glu607Gly		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E607G	ENST00000433060.2	37	c.1820	CCDS44712.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.19|18.19	3.568162|3.568162	0.65651|0.65651	.|.	.|.	ENSG00000166025|ENSG00000166025	ENST00000317829;ENST00000433060|ENST00000542840	T;T|.	0.28666|.	1.62;1.6|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Angiomotin, C-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|.	0.74329|.	0.3702|.	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.76071|.	0.987;0.98|.	T|.	0.75695|.	-0.3228|.	10|.	0.87932|.	D|.	0|.	-25.8426|-25.8426	14.8419|14.8419	0.70233|0.70233	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	557;607|.	Q8IY63-2;Q8IY63|.	.;AMOL1_HUMAN|.	G|W	557;607|612	ENSP00000320968:E557G;ENSP00000387739:E607G|.	ENSP00000320968:E557G|.	E|X	+|+	2|3	0|0	AMOTL1|AMOTL1	94226771|94226771	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.220000|0.220000	0.24768|0.24768	7.137000|7.137000	0.77295|0.77295	1.975000|1.975000	0.57531|0.57531	0.459000|0.459000	0.35465|0.35465	GAG|TGA	AMOTL1	-	pfam_Angiomotin_C,prints_Angiomotin		0.517	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	A	NM_130847		94587123	+1	no_errors	ENST00000433060	ensembl	human	known	70_37	missense	SNP	1.000	G
ANO4	121601	genome.wustl.edu	37	12	101493406	101493406	+	Missense_Mutation	SNP	C	C	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:101493406C>A	ENST00000392977.3	+	22	2267	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H	ANO4_ENST00000299222.9_Missense_Mutation_p.P206H|ANO4_ENST00000392979.3_Missense_Mutation_p.P651H|ANO4_ENST00000550015.1_Missense_Mutation_p.P206H			Q32M45	ANO4_HUMAN	anoctamin 4	686					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACATGGACCTGAAAGGAAA	0.363										HNSCC(74;0.22)																																							0													107.0	108.0	108.0					12																	101493406		2203	4300	6503	SO:0001583	missense	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2057C>A	12.37:g.101493406C>A	ENSP00000376703:p.Pro686His		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.P686H	ENST00000392977.3	37	c.2057		12	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262940	0.39995	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.59	5.59	0.84812	.	0.479691	0.22090	N	0.064765	T	0.49898	0.1584	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29571	0.003;0.103;0.249	B;B;B	0.32022	0.002;0.139;0.136	T	0.49799	-0.8901	10	0.48119	T	0.1	.	12.8711	0.57965	0.0:0.9256:0.0:0.0744	.	206;686;651	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	H	651;206;686;206	ENSP00000376705:P651H;ENSP00000299222:P206H;ENSP00000376703:P686H;ENSP00000450192:P206H	ENSP00000299222:P206H	P	+	2	0	ANO4	100017537	0.145000	0.22656	0.624000	0.29186	0.828000	0.46876	3.062000	0.49971	2.630000	0.89119	0.650000	0.86243	CCT	ANO4	-	pfam_Anoctamin		0.363	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	C	NM_178826		101493406	+1	no_errors	ENST00000392977	ensembl	human	known	70_37	missense	SNP	0.084	A
ANO7	50636	genome.wustl.edu	37	2	242149012	242149012	+	Missense_Mutation	SNP	C	C	T	rs375780942		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:242149012C>T	ENST00000274979.8	+	13	1586	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	ANO7_ENST00000402430.3_Missense_Mutation_p.R494C	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	495					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GAGCCGCGCGCGCCGCATGCT	0.677																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	46.0	50.0	49.0		1483	0.7	0.1	2		49	0,8600		0,0,4300	no	missense	ANO7	NM_001001891.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	495/934	242149012	1,13005	2203	4300	6503	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1483C>T	2.37:g.242149012C>T	ENSP00000274979:p.Arg495Cys		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.R495C	ENST00000274979.8	37	c.1483	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	C	9.488	1.100015	0.20552	2.27E-4	0.0	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.63096	-0.02;-0.02	3.09	0.724	0.18236	.	.	.	.	.	T	0.63343	0.2503	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	P	0.56916	0.809	T	0.51616	-0.8683	9	0.52906	T	0.07	.	4.7053	0.12846	0.5535:0.3228:0.0:0.1236	.	495	Q6IWH7	ANO7_HUMAN	C	495;494	ENSP00000274979:R495C;ENSP00000385418:R494C	ENSP00000274979:R495C	R	+	1	0	ANO7	241797685	0.000000	0.05858	0.130000	0.21974	0.290000	0.27261	-0.329000	0.07935	0.345000	0.23873	0.306000	0.20318	CGC	ANO7	-	pfam_Anoctamin		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	C	NM_001001891		242149012	+1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	0.017	T
ARFGEF2	10564	genome.wustl.edu	37	20	47591380	47591380	+	Silent	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:47591380G>T	ENST00000371917.4	+	13	1743	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	581					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCAAAGACCTGTATGTGAATC	0.537																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													118.0	101.0	107.0					20																	47591380		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1743G>T	20.37:g.47591380G>T			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L581	ENST00000371917.4	37	c.1743	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold		0.537	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47591380	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	silent	SNP	1.000	T
ARMC9	80210	genome.wustl.edu	37	2	232234743	232234743	+	3'UTR	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:232234743A>G	ENST00000483477.1	+	0	2340							Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9							extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ACCCAAGGCAAAGGCGTCAGT	0.632																																																	0																																										SO:0001624	3_prime_UTR_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000483477.1:c.*2337A>G	2.37:g.232234743A>G			Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	RNA	SNP	-	NULL	ENST00000483477.1	37	NULL		2	.	.	.	.	.	.	.	.	.	.	A	7.802	0.713757	0.15306	.	.	ENSG00000135931	ENST00000359743	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	5	0.39692	T	0.17	.	10.86	0.46821	1.0:0.0:0.0:0.0	.	.	.	.	E	779	.	ENSP00000352781:K779E	K	+	1	0	ARMC9	231942987	0.818000	0.29161	0.355000	0.25773	0.111000	0.19643	2.182000	0.42556	1.880000	0.54463	0.533000	0.62120	AAG	ARMC9	-	-		0.632	ARMC9-003	KNOWN	basic	processed_transcript	ARMC9	HGNC	protein_coding	OTTHUMT00000332953.2	A	NM_025139		232234743	+1	no_errors	ENST00000483477	ensembl	human	known	70_37	rna	SNP	0.652	G
ASTN1	460	genome.wustl.edu	37	1	176857336	176857336	+	Missense_Mutation	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:176857336A>G	ENST00000367654.3	-	18	3180	c.2969T>C	c.(2968-2970)tTg>tCg	p.L990S	ASTN1_ENST00000361833.2_Missense_Mutation_p.L982S|ASTN1_ENST00000367657.3_Missense_Mutation_p.L982S|ASTN1_ENST00000424564.2_Missense_Mutation_p.L982S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	990					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCCTCCTGCAAGAGCTGCAT	0.522																																																	0													80.0	71.0	74.0					1																	176857336		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2969T>C	1.37:g.176857336A>G	ENSP00000356626:p.Leu990Ser		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L990S	ENST00000367654.3	37	c.2969		1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245537	0.80024	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.48642	1.525	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.56372	-0.7990	10	0.87932	D	0	-15.0598	15.453	0.75290	1.0:0.0:0.0:0.0	.	982;982	O14525-2;B1AJS1	.;.	S	982;982;990;982;982	ENSP00000356629:L982S;ENSP00000354536:L982S;ENSP00000356626:L990S;ENSP00000395041:L982S	ENSP00000354536:L982S	L	-	2	0	ASTN1	175123959	1.000000	0.71417	0.983000	0.44433	0.800000	0.45204	8.789000	0.91839	2.128000	0.65567	0.477000	0.44152	TTG	ASTN1	-	smart_MACPF		0.522	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		A	NM_004319		176857336	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	G
ATF4P4	100127952	genome.wustl.edu	37	11	113660609	113660609	+	RNA	SNP	G	G	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:113660609G>C	ENST00000393544.2	+	0	657									activating transcription factor 4 pseudogene 4																		GAGCAGGTGAGTCAACTCCCG	0.612																																																	0																																												100127952					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660609G>C				RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-		0.612	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	G	NG_021835		113660609	+1	no_errors	ENST00000393544	ensembl	human	known	70_37	rna	SNP	1.000	C
ERMARD	55780	genome.wustl.edu	37	6	170162585	170162585	+	Silent	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:170162585T>C	ENST00000366773.3	+	9	951	c.918T>C	c.(916-918)ttT>ttC	p.F306F	ERMARD_ENST00000588451.1_Silent_p.F180F|ERMARD_ENST00000392095.4_Silent_p.F180F|ERMARD_ENST00000418781.3_Silent_p.F306F|ERMARD_ENST00000366772.2_Silent_p.F306F	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	306					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GGAATGTTTTTGCCACACTTA	0.383																																																	0													151.0	143.0	146.0					6																	170162585		2203	4300	6503	SO:0001819	synonymous_variant	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.918T>C	6.37:g.170162585T>C			B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	NULL	p.F306	ENST00000366773.3	37	c.918	CCDS34576.1	6																																																																																			C6orf70	-	NULL		0.383	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	T	NM_018341		170162585	+1	no_errors	ENST00000366773	ensembl	human	known	70_37	silent	SNP	0.741	C
CAPN14	440854	genome.wustl.edu	37	2	31423333	31423333	+	Missense_Mutation	SNP	C	C	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:31423333C>A	ENST00000403897.3	-	6	851	c.710G>T	c.(709-711)tGc>tTc	p.C237F	CAPN14_ENST00000444918.2_Missense_Mutation_p.C237F	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14	237	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						GTGGGTCTGGCAGCCAATGAG	0.582																																																	0													53.0	53.0	53.0					2																	31423333		692	1591	2283	SO:0001583	missense	440854			AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.710G>T	2.37:g.31423333C>A	ENSP00000385247:p.Cys237Phe		B3KRU9	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.C237F	ENST00000403897.3	37	c.710	CCDS46254.1	2	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847942	0.51164	.	.	ENSG00000214711	ENST00000444918;ENST00000403897	D;D	0.97850	-4.57;-4.57	3.84	3.84	0.44239	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.98896	0.9626	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99761	1.1021	10	0.87932	D	0	.	15.834	0.78782	0.0:1.0:0.0:0.0	.	237;61	A8MX76;A8MX76-2	CAN14_HUMAN;.	F	237	ENSP00000398670:C237F;ENSP00000385247:C237F	ENSP00000385247:C237F	C	-	2	0	CAPN14	31276837	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	6.793000	0.75130	1.710000	0.51325	0.558000	0.71614	TGC	CAPN14	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.582	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1	C	NM_001145122		31423333	-1	no_errors	ENST00000444918	ensembl	human	known	70_37	missense	SNP	1.000	A
CDCP1	64866	genome.wustl.edu	37	3	45132717	45132718	+	Missense_Mutation	DNP	GC	GC	AG	rs144886071	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:45132717_45132718GC>AG	ENST00000296129.1	-	7	2074_2075	c.1940_1941GC>CT	c.(1939-1941)aGC>aCT	p.S647T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	647						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCTGCTTGCCGCTCGTGGGGCT	0.554																																																	0																																										SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1940_1941delinsAG	3.37:g.45132717_45132718delinsAG	ENSP00000296129:p.Ser647Thr		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent|Missense_Mutation	SNP	superfamily_CUB	p.S647|p.S647T	ENST00000296129.1	37	c.1941|c.1940	CCDS2727.1	3																																																																																			CDCP1	-	NULL		0.554	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	G|C	NM_022842		45132717|45132718	-1	no_errors	ENST00000296129	ensembl	human	known	70_37	silent|missense	SNP	0.000|0.003	A|G
CDK10	8558	genome.wustl.edu	37	16	89757893	89757893	+	Missense_Mutation	SNP	G	G	A	rs373968493		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:89757893G>A	ENST00000353379.7	+	4	318	c.275G>A	c.(274-276)cGc>cAc	p.R92H	CDK10_ENST00000505473.1_Missense_Mutation_p.R21H|CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Missense_Mutation_p.R45H	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGCTGCTCCGCCTGCGTCAT	0.652																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4396		0,0,2198	64.0	60.0	62.0		62,62,62,275	4.8	0.7	16		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CDK10	NM_001098533.2,NM_001160367.1,NM_052987.3,NM_052988.4	29,29,29,29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	21/284,21/290,21/273,92/361	89757893	1,12995	2198	4300	6498	SO:0001583	missense	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.275G>A	16.37:g.89757893G>A	ENSP00000338673:p.Arg92His		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R92H	ENST00000353379.7	37	c.275	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324621	0.60634	0.0	1.16E-4	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.66638	-0.22;-0.22;-0.22	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.092747	0.64402	D	0.000001	T	0.66025	0.2748	N	0.20685	0.6	0.51767	D	0.999938	D;P;D;P;P;D;D	0.69078	0.991;0.951;0.972;0.853;0.941;0.997;0.985	P;P;P;B;P;D;P	0.65010	0.871;0.671;0.82;0.417;0.472;0.931;0.806	T	0.69359	-0.5166	10	0.72032	D	0.01	-26.4403	9.4111	0.38491	0.1359:0.0:0.8641:0.0	.	86;21;92;21;21;50;86	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2;B3KQJ3	.;.;CDK10_HUMAN;.;.;.;.	H	45;63;21;92	ENSP00000329957:R45H;ENSP00000424415:R21H;ENSP00000338673:R92H	ENSP00000329957:R45H	R	+	2	0	CDK10	88285394	1.000000	0.71417	0.696000	0.30242	0.023000	0.10783	4.260000	0.58835	2.245000	0.73994	0.491000	0.48974	CGC	CDK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.652	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	G			89757893	+1	no_errors	ENST00000353379	ensembl	human	known	70_37	missense	SNP	1.000	A
CHGB	1114	genome.wustl.edu	37	20	5904601	5904601	+	Missense_Mutation	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:5904601T>C	ENST00000378961.4	+	4	2015	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	604						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TATGACAGGGTGGCCCAACTG	0.537																																																	0													34.0	34.0	34.0					20																	5904601		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1811T>C	20.37:g.5904601T>C	ENSP00000368244:p.Val604Ala		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.V604A	ENST00000378961.4	37	c.1811	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262872	0.80358	.	.	ENSG00000089199	ENST00000378961	T	0.01705	4.68	5.79	5.79	0.91817	.	0.097022	0.45126	D	0.000384	T	0.09949	0.0244	M	0.71581	2.175	0.34429	D	0.69835	D	0.71674	0.998	D	0.72075	0.976	T	0.03121	-1.1070	10	0.66056	D	0.02	-29.502	16.1262	0.81397	0.0:0.0:0.0:1.0	.	604	P05060	SCG1_HUMAN	A	604	ENSP00000368244:V604A	ENSP00000368244:V604A	V	+	2	0	CHGB	5852601	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.480000	0.66820	2.203000	0.70933	0.459000	0.35465	GTG	CHGB	-	pfam_Granin		0.537	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	T	NM_001819		5904601	+1	no_errors	ENST00000378961	ensembl	human	known	70_37	missense	SNP	1.000	C
COL4A6	1288	genome.wustl.edu	37	X	107418434	107418434	+	Missense_Mutation	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:107418434T>C	ENST00000372216.4	-	30	2945	c.2845A>G	c.(2845-2847)Aat>Gat	p.N949D	COL4A6_ENST00000334504.7_Missense_Mutation_p.N948D|COL4A6_ENST00000538570.1_Missense_Mutation_p.N948D|COL4A6_ENST00000394872.2_Missense_Mutation_p.N949D|COL4A6_ENST00000545689.1_Missense_Mutation_p.N948D	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	949	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGCCCCGGATTGCCTCTGTCT	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													164.0	149.0	154.0					X																	107418434		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2845A>G	X.37:g.107418434T>C	ENSP00000361290:p.Asn949Asp		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.N949D	ENST00000372216.4	37	c.2845	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	T	6.715	0.500678	0.12822	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.08	2.22	0.28083	.	0.697709	0.12436	N	0.469093	T	0.78304	0.4262	N	0.02751	-0.505	0.09310	N	1	B;B;B;B	0.11235	0.002;0.003;0.004;0.002	B;B;B;B	0.17433	0.007;0.018;0.012;0.004	T	0.66176	-0.5989	10	0.02654	T	1	.	5.2734	0.15636	0.0:0.5829:0.1466:0.2705	.	948;948;949;948	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	D	949;948;949;948;948;948	ENSP00000361290:N949D;ENSP00000334733:N948D;ENSP00000378340:N949D;ENSP00000443707:N948D;ENSP00000445236:N948D	ENSP00000334733:N948D	N	-	1	0	COL4A6	107305090	0.000000	0.05858	0.001000	0.08648	0.729000	0.41735	-0.033000	0.12246	0.179000	0.19938	-0.293000	0.09583	AAT	COL4A6	-	pfam_Collagen		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	T			107418434	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.003	C
DMXL2	23312	genome.wustl.edu	37	15	51748511	51748511	+	Missense_Mutation	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:51748511T>C	ENST00000251076.5	-	37	8614	c.8327A>G	c.(8326-8328)cAa>cGa	p.Q2776R	RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q2140R|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2777R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2776						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTTACAGTATTGATGGACTGG	0.269																																																	0													66.0	72.0	70.0					15																	51748511		2196	4292	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8327A>G	15.37:g.51748511T>C	ENSP00000251076:p.Gln2776Arg		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2777R	ENST00000251076.5	37	c.8330	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	28.5	4.926758	0.92319	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.01246	5.11;5.11;5.11	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	N	0.25647	0.755	0.80722	D	1	D;P;D;P	0.63880	0.993;0.936;0.99;0.683	P;P;D;B	0.69824	0.852;0.885;0.966;0.305	T	0.56721	-0.7932	10	0.72032	D	0.01	.	15.3376	0.74269	0.0:0.0:0.0:1.0	.	2777;2140;2776;2777	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	R	2776;2777;2140;342	ENSP00000251076:Q2776R;ENSP00000441858:Q2777R;ENSP00000400855:Q2140R	ENSP00000251076:Q2776R	Q	-	2	0	DMXL2	49535803	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	5.694000	0.68272	2.194000	0.70268	0.533000	0.62120	CAA	DMXL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.269	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	T	NM_015263		51748511	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	C
DENND4A	10260	genome.wustl.edu	37	15	65994218	65994218	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:65994218C>T	ENST00000431932.2	-	18	2649	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	DENND4A_ENST00000443035.3_Missense_Mutation_p.R814H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	814					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CATAAGAATGCGGTAGCATAC	0.363																																																	0													129.0	126.0	127.0					15																	65994218		1897	4124	6021	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2441G>A	15.37:g.65994218C>T	ENSP00000396830:p.Arg814His		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.R814H	ENST00000431932.2	37	c.2441	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.163110	0.94727	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.10192	2.9;2.92	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53634	-0.8411	10	0.87932	D	0	.	19.0539	0.93055	0.0:1.0:0.0:0.0	.	814;814	E7EPL3;Q7Z401	.;MYCPP_HUMAN	H	814	ENSP00000391167:R814H;ENSP00000396830:R814H	ENSP00000396830:R814H	R	-	2	0	DENND4A	63781272	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.707000	0.84623	2.506000	0.84524	0.591000	0.81541	CGC	DENND4A	-	tigrfam_Pentatricopeptide_repeat		0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		65994218	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA6A	342096	genome.wustl.edu	37	15	74364978	74364978	+	Intron	SNP	G	G	A	rs373719469		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:74364978G>A	ENST00000290438.3	-	13	1542				RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A							Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						ttggcataacgACCAGCTGTT	0.552																																																	0																																										SO:0001627	intron_variant	0			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1501+104C>T	15.37:g.74364978G>A			A8K959|Q9NYA7	RNA	SNP	-	NULL	ENST00000290438.3	37	NULL	CCDS32290.1	15																																																																																			Metazoa_SRP	-	-		0.552	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000244612	RFAM	protein_coding	OTTHUMT00000421835.1	G	XM_292357		74364978	-1	no_errors	ENST00000479090	ensembl	human	novel	70_37	rna	SNP	0.001	A
LAIR1	3903	genome.wustl.edu	37	19	54864241	54864241	+	IGR	SNP	T	T	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:54864241T>A	ENST00000391742.2	-	0	1610				CTD-2587H19.1_ENST00000596234.1_lincRNA			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCACCTGAACTTCCTGGACTT	0.463																																																	0																																										SO:0001628	intergenic_variant	0			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545		19.37:g.54864241T>A				RNA	SNP	-	NULL	ENST00000391742.2	37	NULL	CCDS12891.1	19																																																																																			CTD-2587H19.1	-	-		0.463	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268802	Clone_based_vega_gene	protein_coding	OTTHUMT00000140506.1	T			54864241	-1	no_errors	ENST00000596234	ensembl	human	known	70_37	rna	SNP	0.000	A
ZSCAN16-AS1	100129195	genome.wustl.edu	37	6	28104731	28104731	+	lincRNA	SNP	G	G	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:28104731G>C	ENST00000565046.1	+	0	105				ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA																							AGAGAAATAAGGGACCTATTT	0.577																																																	0																																												0																															6.37:g.28104731G>C				Missense_Mutation	SNP	NULL	p.L46V	ENST00000565046.1	37	c.136		6																																																																																			AL358933.1	-	NULL		0.577	RP1-265C24.8-001	KNOWN	basic	lincRNA	ENSG00000269293	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000431260.1	G			28104731	-1	no_errors	ENST00000600652	ensembl	human	known	70_37	missense	SNP	0.004	C
ERBB4	2066	genome.wustl.edu	37	2	212530163	212530163	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:212530163C>T	ENST00000342788.4	-	15	2066	c.1756G>A	c.(1756-1758)Ggc>Agc	p.G586S	ERBB4_ENST00000436443.1_Missense_Mutation_p.G586S|ERBB4_ENST00000402597.1_Missense_Mutation_p.G586S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	586	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGTTTGGGCCATCTTTAAAA	0.423										TSP Lung(8;0.080)																																							0													115.0	105.0	108.0					2																	212530163		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1756G>A	2.37:g.212530163C>T	ENSP00000342235:p.Gly586Ser		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G586S	ENST00000342788.4	37	c.1756	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326959|4.326959	0.81690|0.81690	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	D;D;D|.	0.85773|.	-2.03;-2.03;-2.03|.	5.26|5.26	4.37|4.37	0.52481|0.52481	Growth factor, receptor (1);|.	0.139652|.	0.64402|.	D|.	0.000004|.	T|T	0.69602|0.69602	0.3129|0.3129	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.992;0.978;0.997;0.998;0.997|.	D;P;D;D;D|.	0.72982|.	0.946;0.806;0.979;0.968;0.929|.	T|T	0.68754|0.68754	-0.5325|-0.5325	10|5	0.54805|.	T|.	0.06|.	.|.	15.4963|15.4963	0.75653|0.75653	0.1396:0.8604:0.0:0.0|0.1396:0.8604:0.0:0.0	.|.	586;586;445;586;586|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	S|I	586|585	ENSP00000342235:G586S;ENSP00000403204:G586S;ENSP00000385565:G586S|.	ENSP00000342235:G586S|.	G|M	-|-	1|3	0|0	ERBB4|ERBB4	212238408|212238408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.770000|7.770000	0.85390|0.85390	1.331000|1.331000	0.45412|0.45412	0.655000|0.655000	0.94253|0.94253	GGC|ATG	ERBB4	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.423	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	C	NM_001042599		212530163	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO18	84893	genome.wustl.edu	37	10	5957376	5957376	+	Silent	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:5957376G>A	ENST00000362091.4	+	9	1522	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	FBXO18_ENST00000379999.5_Silent_p.K520K|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	469					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCACTGGGAAGACCTCAACGC	0.547																																																	0													84.0	62.0	70.0					10																	5957376		2203	4300	6503	SO:0001819	synonymous_variant	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1407G>A	10.37:g.5957376G>A			Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.K520	ENST00000362091.4	37	c.1560	CCDS7072.1	10																																																																																			FBXO18	-	NULL		0.547	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	G	NM_032807		5957376	+1	no_errors	ENST00000379999	ensembl	human	known	70_37	silent	SNP	1.000	A
FCRL1	115350	genome.wustl.edu	37	1	157768000	157768000	+	Silent	SNP	G	G	T	rs3811024	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:157768000G>T	ENST00000368176.3	-	8	1132	c.1065C>A	c.(1063-1065)acC>acA	p.T355T	FCRL1_ENST00000358292.3_Silent_p.T316T|FCRL1_ENST00000491942.1_Silent_p.T355T|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	355						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGTTGAGGTAGGTGAACTCTT	0.493																																					GBM(54;482 1003 11223 30131 35730)												0													116.0	111.0	112.0					1																	157768000		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1065C>A	1.37:g.157768000G>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T355	ENST00000368176.3	37	c.1065	CCDS1170.1	1																																																																																			FCRL1	-	NULL		0.493	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	G	NM_052938		157768000	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	silent	SNP	0.000	T
FER1L6	654463	genome.wustl.edu	37	8	125025691	125025691	+	Silent	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr8:125025691G>A	ENST00000522917.1	+	15	2048	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	FER1L6_ENST00000399018.1_Silent_p.V614V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	614						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAGAAGAAGTGAGAGAATTGA	0.443																																																	0													101.0	97.0	98.0					8																	125025691		1859	4105	5964	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1842G>A	8.37:g.125025691G>A				Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V614	ENST00000522917.1	37	c.1842	CCDS43767.1	8																																																																																			FER1L6	-	NULL		0.443	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	G	NM_001039112		125025691	+1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.966	A
FLNC	2318	genome.wustl.edu	37	7	128486419	128486419	+	Silent	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr7:128486419C>T	ENST00000325888.8	+	23	4290	c.4029C>T	c.(4027-4029)ggC>ggT	p.G1343G	FLNC_ENST00000346177.6_Silent_p.G1343G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1343					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCGAGTGGGCGTGACCGAGG	0.637																																																	0													51.0	62.0	58.0					7																	128486419		2121	4221	6342	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4029C>T	7.37:g.128486419C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1343	ENST00000325888.8	37	c.4029	CCDS43644.1	7																																																																																			FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128486419	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	silent	SNP	0.517	T
FREM3	166752	genome.wustl.edu	37	4	144621367	144621367	+	Silent	SNP	C	C	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:144621367C>A	ENST00000329798.5	-	1	461	c.462G>T	c.(460-462)ctG>ctT	p.L154L	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	154					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						GCGTGAAGGGCAGCACCAGAG	0.662																																																	0													20.0	30.0	27.0					4																	144621367		692	1591	2283	SO:0001819	synonymous_variant	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.462G>T	4.37:g.144621367C>A				Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L154	ENST00000329798.5	37	c.462	CCDS54808.1	4																																																																																			FREM3	-	NULL		0.662	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	C	XM_094074		144621367	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	silent	SNP	1.000	A
FRMPD2	143162	genome.wustl.edu	37	10	49392882	49392882	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:49392882G>A	ENST00000374201.3	-	19	2704	c.2402C>T	c.(2401-2403)cCt>cTt	p.P801L	FRMPD2_ENST00000407470.4_Missense_Mutation_p.P769L|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P776L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	801	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAAAATGCCAGGGTCAGCTTG	0.368																																																	0													82.0	80.0	81.0					10																	49392882		2203	4300	6503	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2402C>T	10.37:g.49392882G>A	ENSP00000363317:p.Pro801Leu		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.P801L	ENST00000374201.3	37	c.2402	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	G	5.697	0.313096	0.10789	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.27890	1.64;1.64;1.64	5.24	4.1	0.47936	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.08935	0.0221	N	0.01081	-1.03	0.39852	D	0.97325	B;B;B	0.14438	0.01;0.005;0.01	B;B;B	0.16722	0.016;0.005;0.016	T	0.28073	-1.0055	9	0.18276	T	0.48	.	5.1881	0.15195	0.2035:0.0:0.7965:0.0	.	776;801;769	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	801;776;769	ENSP00000363317:P801L;ENSP00000307079:P776L;ENSP00000384339:P769L	ENSP00000307079:P776L	P	-	2	0	FRMPD2	49062888	1.000000	0.71417	0.954000	0.39281	0.909000	0.53808	5.795000	0.69074	2.615000	0.88500	0.655000	0.94253	CCT	FRMPD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.368	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	G	NM_152428		49392882	-1	no_errors	ENST00000374201	ensembl	human	known	70_37	missense	SNP	0.993	A
FSIP2	401024	genome.wustl.edu	37	2	186668590	186668592	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	AGT	AGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:186668590_186668592delAGT	ENST00000424728.1	+	17	14557_14559	c.14557_14559delAGT	c.(14557-14559)agtdel	p.S4853del	FSIP2_ENST00000343098.5_In_Frame_Del_p.S4942del			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4853										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAAAAACAGAGTATGATTTCAG	0.261																																																	0																																										SO:0001651	inframe_deletion	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.14557_14559delAGT	2.37:g.186668590_186668592delAGT	ENSP00000401306:p.Ser4853del		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	In_Frame_Del	DEL	NULL	p.S4942in_frame_del	ENST00000424728.1	37	c.14824_14826		2																																																																																			FSIP2	-	NULL		0.261	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	AGT	NM_173651		186668592	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	in_frame_del	DEL	0.319:0.208:0.098	-
GDF5	8200	genome.wustl.edu	37	20	34025308	34025308	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:34025308G>A	ENST00000374372.1	-	3	904	c.401C>T	c.(400-402)cCc>cTc	p.P134L	GDF5_ENST00000374369.3_Missense_Mutation_p.P134L			P43026	GDF5_HUMAN	growth differentiation factor 5	134					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGCTTTTGGGGGTGCCTTGCC	0.667																																																	0													55.0	61.0	59.0					20																	34025308		2203	4300	6503	SO:0001583	missense	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.401C>T	20.37:g.34025308G>A	ENSP00000363492:p.Pro134Leu		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.P134L	ENST00000374372.1	37	c.401	CCDS13254.1	20	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220096	0.22373	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.79653	-1.29;-1.29	4.39	2.42	0.29668	.	0.949671	0.08724	N	0.903055	T	0.69097	0.3073	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58929	-0.7549	10	0.72032	D	0.01	.	9.9824	0.41821	0.1668:0.0:0.8332:0.0	.	134;134	F1T0J1;P43026	.;GDF5_HUMAN	L	134	ENSP00000363489:P134L;ENSP00000363492:P134L	ENSP00000363489:P134L	P	-	2	0	GDF5	33488722	0.985000	0.35326	0.907000	0.35723	0.645000	0.38454	3.330000	0.52068	0.472000	0.27344	0.313000	0.20887	CCC	GDF5	-	NULL		0.667	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	G			34025308	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	missense	SNP	0.267	A
GEMIN6	79833	genome.wustl.edu	37	2	39008896	39008896	+	Silent	SNP	C	C	T	rs200834111		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:39008896C>T	ENST00000281950.3	+	3	482	c.366C>T	c.(364-366)gaC>gaT	p.D122D	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	122					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				AACAGGGAGACGCTCCAAGGA	0.493													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18516	0.0		0.0	False		,,,				2504	0.0																0								T		1,4405	826.1+/-416.6	0,1,2202	85.0	81.0	82.0		366	-9.2	0.0	2		82	0,8600		0,0,4300	no	coding-synonymous	GEMIN6	NM_024775.9		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		122/168	39008896	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79833			AF453443	CCDS1799.1	2p22.1	2014-05-14			ENSG00000152147	ENSG00000152147			20044	protein-coding gene	gene with protein product		607006				11748230	Standard	NM_024775		Approved	FLJ23459	uc002rrc.3	Q8WXD5	OTTHUMG00000128588	ENST00000281950.3:c.366C>T	2.37:g.39008896C>T			B2RDP8|Q53SI5|Q8WVB4|Q9H5G6	Silent	SNP	pfam_Gemin6	p.D122	ENST00000281950.3	37	c.366	CCDS1799.1	2																																																																																			GEMIN6	-	pfam_Gemin6		0.493	GEMIN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN6	HGNC	protein_coding	OTTHUMT00000250441.3	C			39008896	+1	no_errors	ENST00000281950	ensembl	human	known	70_37	silent	SNP	0.000	T
GKAP1	80318	genome.wustl.edu	37	9	86421236	86421237	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr9:86421236_86421237TG>CT	ENST00000376371.2	-	3	596_597	c.196_197CA>AG	c.(196-198)CAa>AGa	p.Q66R	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q66R	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	66					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCACTCTGTTGCTGttccttc	0.371																																																	0																																										SO:0001583	missense	80318			BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.196_197delinsCT	9.37:g.86421236_86421237delinsCT	ENSP00000365550:p.Gln66Arg		Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	NULL	p.Q66R|p.Q66K	ENST00000376371.2	37	c.197|c.196	CCDS35049.1	9																																																																																			GKAP1	-	NULL		0.371	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	HGNC	protein_coding	OTTHUMT00000052839.2	T|G	NM_025211		86421236|86421237	-1	no_errors	ENST00000376371	ensembl	human	known	70_37	missense	SNP	1.000	C|T
GPR3	2827	genome.wustl.edu	37	1	27720959	27720959	+	Silent	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:27720959C>T	ENST00000374024.3	+	2	756	c.657C>T	c.(655-657)atC>atT	p.I219I		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	219					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGCCGCATCGTCTGCCGCC	0.587																																																	0													135.0	118.0	124.0					1																	27720959		2203	4300	6503	SO:0001819	synonymous_variant	2827			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.657C>T	1.37:g.27720959C>T			A8K570	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_GPCR_Rhodpsn	p.I219	ENST00000374024.3	37	c.657	CCDS303.1	1																																																																																			GPR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_orph_rcpt		0.587	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1	C	NM_005281		27720959	+1	no_errors	ENST00000374024	ensembl	human	known	70_37	silent	SNP	0.993	T
GRIN2A	2903	genome.wustl.edu	37	16	9857475	9857475	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:9857475C>T	ENST00000396573.2	-	14	4235	c.3926G>A	c.(3925-3927)cGg>cAg	p.R1309Q	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1309Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1309Q|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1309					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTTATGCTCCGGGAGGGCCT	0.498																																																	0													113.0	108.0	110.0					16																	9857475		2197	4300	6497	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3926G>A	16.37:g.9857475C>T	ENSP00000379818:p.Arg1309Gln		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R1309Q	ENST00000396573.2	37	c.3926	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711380	0.89112	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.46451	0.87;0.87;0.87	5.77	5.77	0.91146	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68375	-0.5425	9	.	.	.	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	1309	Q12879	NMDE1_HUMAN	Q	1309	ENSP00000379818:R1309Q;ENSP00000332549:R1309Q;ENSP00000379820:R1309Q	.	R	-	2	0	GRIN2A	9764976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.395000	0.79876	2.741000	0.93983	0.650000	0.86243	CGG	GRIN2A	-	pfam_NMDAR2_C		0.498	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	C			9857475	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	missense	SNP	1.000	T
GSTA2	2939	genome.wustl.edu	37	6	52617759	52617759	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:52617759C>T	ENST00000493422.1	-	5	462	c.307G>A	c.(307-309)Ggt>Agt	p.G103S		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	103	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Chloroquine(DB00608)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Vitamin E(DB00163)	ATCATTTCACCCAAATCTGCT	0.363																																																	0													166.0	155.0	159.0					6																	52617759		2203	4300	6503	SO:0001583	missense	2939			AL109918	CCDS4944.1	6p12.2	2012-06-21	2008-11-26		ENSG00000244067	ENSG00000244067	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4627	protein-coding gene	gene with protein product		138360	"""glutathione S-transferase A2"""	GST2			Standard	NM_000846		Approved		uc003pay.3	P09210	OTTHUMG00000016263	ENST00000493422.1:c.307G>A	6.37:g.52617759C>T	ENSP00000420168:p.Gly103Ser		Q12759|Q16491|Q9NTY6	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.G103S	ENST00000493422.1	37	c.307	CCDS4944.1	6	.	.	.	.	.	.	.	.	.	.	N	6.143	0.394656	0.11638	.	.	ENSG00000244067	ENST00000493422	T	0.11169	2.8	2.26	-4.51	0.03483	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.545720	0.03683	N	0.245918	T	0.02047	0.0064	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.40515	-0.9559	10	0.19147	T	0.46	.	3.5835	0.07962	0.2732:0.3903:0.0:0.3365	.	103	P09210	GSTA2_HUMAN	S	103	ENSP00000420168:G103S	ENSP00000420168:G103S	G	-	1	0	GSTA2	52725718	0.000000	0.05858	0.029000	0.17559	0.461000	0.32589	-0.246000	0.08878	-1.730000	0.01362	-0.864000	0.03007	GGT	GSTA2	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.363	GSTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA2	HGNC	protein_coding	OTTHUMT00000043589.1	C	NM_000846		52617759	-1	no_errors	ENST00000493422	ensembl	human	known	70_37	missense	SNP	0.037	T
HBS1L	10767	genome.wustl.edu	37	6	135358772	135358772	+	Intron	SNP	C	C	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:135358772C>A	ENST00000367837.5	-	4	637				HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367822.5_Missense_Mutation_p.D275Y|HBS1L_ENST00000367820.2_Intron|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367824.4_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AATGCAGAATCATCTTTGGAA	0.343																																																	0													53.0	41.0	45.0					6																	135358772		692	1591	2283	SO:0001627	intron_variant	10767			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+1938G>T	6.37:g.135358772C>A			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_DUF1916	p.D275Y	ENST00000367837.5	37	c.823	CCDS5173.1	6	.	.	.	.	.	.	.	.	.	.	C	9.566	1.119721	0.20877	.	.	ENSG00000112339	ENST00000367822	.	.	.	5.34	3.5	0.40072	.	.	.	.	.	T	0.34164	0.0888	.	.	.	0.26067	N	0.981271	D	0.54964	0.969	P	0.55999	0.789	T	0.26503	-1.0101	7	0.87932	D	0	.	4.5422	0.12064	0.0:0.5069:0.1541:0.339	.	275	Q9Y450-2	.	Y	275	.	ENSP00000356796:D275Y	D	-	1	0	HBS1L	135400465	0.996000	0.38824	0.127000	0.21898	0.594000	0.36715	0.567000	0.23608	0.579000	0.29504	0.650000	0.86243	GAT	HBS1L	-	NULL		0.343	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	C			135358772	-1	no_errors	ENST00000367822	ensembl	human	known	70_37	missense	SNP	0.030	A
HDX	139324	genome.wustl.edu	37	X	83724332	83724332	+	Silent	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:83724332T>C	ENST00000297977.5	-	3	510	c.399A>G	c.(397-399)gcA>gcG	p.A133A	HDX_ENST00000506585.2_Silent_p.A75A|HDX_ENST00000373177.2_Silent_p.A133A	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	133						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGATTTTATGTGCTTCTGTAA	0.378																																					Pancreas(53;231 1169 36156 43751 51139)												0													258.0	215.0	230.0					X																	83724332		2203	4300	6503	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.399A>G	X.37:g.83724332T>C			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.A133	ENST00000297977.5	37	c.399	CCDS35342.1	X																																																																																			HDX	-	NULL		0.378	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	T	NM_144657		83724332	-1	no_errors	ENST00000297977	ensembl	human	known	70_37	silent	SNP	0.946	C
HMCN1	83872	genome.wustl.edu	37	1	186050401	186050401	+	Missense_Mutation	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:186050401A>G	ENST00000271588.4	+	56	8891	c.8662A>G	c.(8662-8664)Aag>Gag	p.K2888E	HMCN1_ENST00000367492.2_Missense_Mutation_p.K2888E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2888	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGGTGAACAAGAGTGCACT	0.468																																																	0													167.0	159.0	162.0					1																	186050401		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8662A>G	1.37:g.186050401A>G	ENSP00000271588:p.Lys2888Glu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.K2888E	ENST00000271588.4	37	c.8662	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998782	0.35226	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64618	-0.11;-0.11	5.86	2.1	0.27182	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.228638	0.51477	D	0.000089	T	0.33789	0.0875	N	0.11131	0.1	0.43412	D	0.995553	B	0.28584	0.216	B	0.29353	0.101	T	0.26087	-1.0113	10	0.02654	T	1	.	8.2715	0.31846	0.5387:0.3955:0.0658:0.0	.	2888	Q96RW7	HMCN1_HUMAN	E	2888	ENSP00000271588:K2888E;ENSP00000356462:K2888E	ENSP00000271588:K2888E	K	+	1	0	HMCN1	184317024	1.000000	0.71417	0.177000	0.23020	0.918000	0.54935	2.101000	0.41787	0.095000	0.17434	0.533000	0.62120	AAG	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	A	NM_031935		186050401	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.999	G
HN1L	90861	genome.wustl.edu	37	16	1741844	1741844	+	Splice_Site	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:1741844G>A	ENST00000248098.3	+	3	251	c.194G>A	c.(193-195)gGg>gAg	p.G65E	HN1L_ENST00000562684.1_Splice_Site_p.G93E|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000382710.4_Splice_Site_p.G53E|HN1L_ENST00000382711.5_Splice_Site_p.G49E|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000561516.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	65						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GTTTCTGCAGGGGGTAAAGGA	0.582																																																	0													82.0	75.0	77.0					16																	1741844		2199	4300	6499	SO:0001630	splice_region_variant	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.194-1G>A	16.37:g.1741844G>A			B1AJY2|Q6EIC7	Missense_Mutation	SNP	NULL	p.G65E	ENST00000248098.3	37	c.194	CCDS10441.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021208	0.75275	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.53640	0.61;0.61	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.976;0.995;0.976	T	0.72293	-0.4336	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	53;93;65	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	E	65;93;65;53	ENSP00000248098:G65E;ENSP00000372157:G53E	.	G	+	2	0	HN1L	1681845	1.000000	0.71417	0.988000	0.46212	0.448000	0.32197	7.373000	0.79623	2.941000	0.99782	0.655000	0.94253	GGG	HN1L	-	NULL		0.582	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2	G	NM_144570	Missense_Mutation	1741844	+1	no_errors	ENST00000248098	ensembl	human	known	70_37	missense	SNP	0.999	A
HSPG2	3339	genome.wustl.edu	37	1	22169400	22169400	+	Missense_Mutation	SNP	G	G	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:22169400G>C	ENST00000374695.3	-	67	8852	c.8773C>G	c.(8773-8775)Cag>Gag	p.Q2925E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2925	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TAGATGGGCTGGGCCAGTCCT	0.642																																																	0													60.0	57.0	58.0					1																	22169400		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8773C>G	1.37:g.22169400G>C	ENSP00000363827:p.Gln2925Glu		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.Q2925E	ENST00000374695.3	37	c.8773	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	7.238	0.600762	0.13939	.	.	ENSG00000142798	ENST00000374695	T	0.41758	0.99	4.92	2.73	0.32206	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.565442	0.13684	N	0.370018	T	0.32436	0.0829	N	0.22421	0.69	0.25310	N	0.989209	P;P	0.36183	0.542;0.536	P;B	0.44921	0.464;0.253	T	0.13737	-1.0498	10	0.02654	T	1	.	12.651	0.56761	0.0:0.0:0.6932:0.3068	.	865;2925	Q59EG0;P98160	.;PGBM_HUMAN	E	2925	ENSP00000363827:Q2925E	ENSP00000363827:Q2925E	Q	-	1	0	HSPG2	22041987	0.098000	0.21812	1.000000	0.80357	0.981000	0.71138	1.624000	0.37018	1.015000	0.39444	0.462000	0.41574	CAG	HSPG2	-	pfscan_Ig-like		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22169400	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.995	C
HTR1D	3352	genome.wustl.edu	37	1	23519579	23519579	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:23519579C>A	ENST00000374619.1	-	1	1643	c.1134G>T	c.(1132-1134)taG>taT	p.*378Y	HTR1D_ENST00000314113.3_Nonstop_Mutation_p.*378Y	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	0					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCGAATAAGACTAGGAGGCCT	0.358																																																	0													47.0	48.0	48.0					1																	23519579		2201	4297	6498	SO:0001578	stop_lost	3352			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1134G>T	1.37:g.23519579C>A				Nonstop_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.*378Y	ENST00000374619.1	37	c.1134	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	C	7.552	0.662914	0.14710	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	.	.	.	5.55	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3523	0.26697	0.0:0.7311:0.0:0.2689	.	.	.	.	Y	378	.	.	X	-	3	2	HTR1D	23392166	.	.	0.985000	0.45067	0.880000	0.50808	.	.	1.285000	0.44548	0.650000	0.86243	TAG	HTR1D	-	NULL		0.358	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	C	NM_000864		23519579	-1	no_errors	ENST00000314113	ensembl	human	known	70_37	nonstop	SNP	0.396	A
HRNR	388697	genome.wustl.edu	37	1	152189237	152189237	+	Missense_Mutation	SNP	C	C	G	rs200543988	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:152189237C>G	ENST00000368801.2	-	3	4943	c.4868G>C	c.(4867-4869)aGc>aCc	p.S1623T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1623					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGCCACTGCTGGAAGACCG	0.617																																																	0													5.0	1.0	3.0					1																	152189237		494	616	1110	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.4868G>C	1.37:g.152189237C>G	ENSP00000357791:p.Ser1623Thr		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1623T	ENST00000368801.2	37	c.4868	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	7.019	0.558245	0.13436	.	.	ENSG00000197915	ENST00000368801	T	0.05199	3.48	4.35	-1.7	0.08159	.	.	.	.	.	T	0.01254	0.0041	L	0.48642	1.525	0.09310	N	1	B	0.30281	0.275	B	0.18263	0.021	T	0.46965	-0.9153	9	0.12766	T	0.61	.	6.3832	0.21546	0.0:0.3868:0.4467:0.1665	.	1623	Q86YZ3	HORN_HUMAN	T	1623	ENSP00000357791:S1623T	ENSP00000357791:S1623T	S	-	2	0	HRNR	150455861	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.035000	0.12205	-0.146000	0.11274	-0.241000	0.12123	AGC	HRNR	-	NULL		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152189237	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	G
IGF1R	3480	genome.wustl.edu	37	15	99465401	99465401	+	Silent	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr15:99465401C>T	ENST00000268035.6	+	11	2837	c.2226C>T	c.(2224-2226)gtC>gtT	p.V742V	IGF1R_ENST00000558762.1_Silent_p.V742V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	742	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGAGAGATGTCATGCAAGTGG	0.498																																																	0													86.0	82.0	84.0					15																	99465401		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2226C>T	15.37:g.99465401C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.V742	ENST00000268035.6	37	c.2226	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99465401	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	0.119	T
IGSF10	285313	genome.wustl.edu	37	3	151155402	151155402	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:151155402C>T	ENST00000282466.3	-	6	6946	c.6947G>A	c.(6946-6948)cGa>cAa	p.R2316Q	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2316	Ig-like C2-type 9.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTTCATTTCGGGCCACACA	0.418																																																	0													132.0	130.0	131.0					3																	151155402		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6947G>A	3.37:g.151155402C>T	ENSP00000282466:p.Arg2316Gln		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R2316Q	ENST00000282466.3	37	c.6947	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890995	0.72524	.	.	ENSG00000152580	ENST00000282466	T	0.66460	-0.21	5.77	1.92	0.25849	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315823	0.22779	N	0.055746	T	0.61515	0.2353	L	0.55743	1.74	0.44652	D	0.997637	D;B	0.54047	0.964;0.308	P;B	0.46796	0.527;0.089	T	0.55829	-0.8079	10	0.40728	T	0.16	.	7.5076	0.27553	0.0:0.6807:0.1203:0.199	.	2316;343	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	Q	2316	ENSP00000282466:R2316Q	ENSP00000282466:R2316Q	R	-	2	0	IGSF10	152638092	0.994000	0.37717	0.929000	0.37066	0.985000	0.73830	2.449000	0.44935	0.066000	0.16515	0.591000	0.81541	CGA	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151155402	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.999	T
KIAA1211	57482	genome.wustl.edu	37	4	57180592	57180592	+	Frame_Shift_Del	DEL	T	T	-	rs386674634		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:57180592delT	ENST00000504228.1	+	6	1029	c.924delT	c.(922-924)cgtfs	p.R308fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.R308fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.R301fs			Q6ZU35	K1211_HUMAN	KIAA1211	308	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAGGGAGCGTGAGGAGCGCG	0.736																																																	0													5.0	7.0	6.0					4																	57180592		1903	3760	5663	SO:0001589	frameshift_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.924delT	4.37:g.57180592delT	ENSP00000423366:p.Arg308fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	NULL	p.E309fs	ENST00000504228.1	37	c.924	CCDS43230.1	4																																																																																			KIAA1211	-	NULL		0.736	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	T	NM_020722		57180592	+1	no_errors	ENST00000504228	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
KIAA1211	57482	genome.wustl.edu	37	4	57180594	57180595	+	Frame_Shift_Ins	INS	-	-	G	rs386674634		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:57180594_57180595insG	ENST00000504228.1	+	6	1031_1032	c.926_927insG	c.(925-930)gaggagfs	p.E310fs	KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.E310fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.E303fs			Q6ZU35	K1211_HUMAN	KIAA1211	310	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGGAGCGTGAGGAGCGCGAGC	0.738																																																	0										304,3290		11,282,1504						1.2	0.0		dbSNP_130	7	660,6490		13,634,2928	no	frameshift	KIAA1211	NM_020722.1		24,916,4432	A1A1,A1R,RR		9.2308,8.4585,8.9724				964,9780				SO:0001589	frameshift_variant	57482			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.928dupG	4.37:g.57180596_57180596dupG	ENSP00000423366:p.Glu310fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Ins	INS	NULL	p.E310fs	ENST00000504228.1	37	c.926_927	CCDS43230.1	4																																																																																			KIAA1211	-	NULL		0.738	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	NM_020722		57180595	+1	no_errors	ENST00000504228	ensembl	human	known	70_37	frame_shift_ins	INS	0.011:0.002	G
LHX9	56956	genome.wustl.edu	37	1	197901077	197901077	+	IGR	SNP	A	A	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:197901077A>C	ENST00000367387.4	+	0	2503				LHX9_ENST00000367391.1_Missense_Mutation_p.Q313P|LHX9_ENST00000561173.1_Missense_Mutation_p.Q328P|LHX9_ENST00000367390.3_3'UTR|LHX9_ENST00000337020.2_Missense_Mutation_p.Q322P	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9						cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CATTACAGCCAAACATCCCGA	0.368																																																	0																																										SO:0001628	intergenic_variant	56956			AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656		1.37:g.197901077A>C			Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.Q328P	ENST00000367387.4	37	c.983	CCDS1393.1	1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758132	0.31137	.	.	ENSG00000143355	ENST00000367391;ENST00000337020	T;T	0.55052	0.61;0.54	6.07	6.07	0.98685	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	P	0.40066	0.701	B	0.41036	0.346	T	0.58200	-0.7678	8	0.66056	D	0.02	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	313	Q9NQ69-3	.	P	313;322	ENSP00000356361:Q313P;ENSP00000337969:Q322P	ENSP00000337969:Q322P	Q	+	2	0	LHX9	196167700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.330000	0.79161	0.477000	0.44152	CAA	LHX9	-	NULL		0.368	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX9	HGNC	protein_coding	OTTHUMT00000086547.2	A	NM_020204		197901077	+1	no_errors	ENST00000561173	ensembl	human	putative	70_37	missense	SNP	1.000	C
SPRN	503542	genome.wustl.edu	37	10	135271991	135271991	+	Intron	SNP	G	G	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:135271991G>C	ENST00000541506.1	-	2	141				RP11-108K14.4_ENST00000482993.2_RNA			Q5BIV9	SPRN_HUMAN	shadow of prion protein homolog (zebrafish)						protein import into nucleus (GO:0006606)	anchored component of membrane (GO:0031225)|cytosol (GO:0005829)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	nucleic acid binding (GO:0003676)						all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGAGCTGCAGTGTGGGGCGG	0.761																																																	0																																										SO:0001627	intron_variant	619207				CCDS53589.1	10q26.3	2011-02-09			ENSG00000203772	ENSG00000203772			16871	protein-coding gene	gene with protein product	"""hypothetical protein BC004409"""	610447				14527721	Standard	NM_001012508		Approved	Shadoo, Sprn, bA108K14.1, FLJ41197	uc001lnf.4	Q5BIV9	OTTHUMG00000019324	ENST00000541506.1:c.16-34790C>G	10.37:g.135271991G>C				Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.Q270H	ENST00000541506.1	37	c.810	CCDS53589.1	10	.	.	.	.	.	.	.	.	.	.	.	5.488	0.275074	0.10403	.	.	ENSG00000214279	ENST00000333815;ENST00000356567	.	.	.	4.58	-0.112	0.13572	.	2.267530	0.02146	N	0.057590	T	0.60117	0.2244	.	.	.	0.49582	D	0.999801	.	.	.	.	.	.	T	0.53676	-0.8405	6	0.62326	D	0.03	.	6.269	0.20943	0.1751:0.4608:0.3642:0.0	.	.	.	.	H	270;70	.	ENSP00000329303:Q270H	Q	+	3	2	RP11-108K14.4	135121981	0.002000	0.14202	0.378000	0.26068	0.084000	0.17831	-0.060000	0.11712	0.333000	0.23563	0.591000	0.81541	CAG	RP11-108K14.4	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.761	SPRN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC619207	Clone_based_vega_gene	protein_coding	OTTHUMT00000051175.2	G	NM_001012508		135271991	+1	no_errors	ENST00000333815	ensembl	human	putative	70_37	missense	SNP	0.337	C
LPHN3	23284	genome.wustl.edu	37	4	62761547	62761547	+	Missense_Mutation	SNP	C	C	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:62761547C>G	ENST00000514591.1	+	10	2007	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E	LPHN3_ENST00000506720.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000511324.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000507164.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000508946.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000545650.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000506746.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000514157.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000509896.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000508693.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000512091.2_Missense_Mutation_p.Q560E|LPHN3_ENST00000506700.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000507625.1_Missense_Mutation_p.Q628E|LPHN3_ENST00000514996.1_Missense_Mutation_p.Q560E|LPHN3_ENST00000504896.1_Missense_Mutation_p.Q560E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	560					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCATATAACACAGAAGGTAAA	0.378																																																	0													73.0	67.0	69.0					4																	62761547		1830	4083	5913	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1678C>G	4.37:g.62761547C>G	ENSP00000422533:p.Gln560Glu		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.Q628E	ENST00000514591.1	37	c.1882	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.818716|2.818716	0.50633|0.50633	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.09350|0.10005	2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99|2.92	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.123452|.	0.56097|.	D|.	0.000035|.	T|T	0.28001|0.28001	0.0690|0.0690	L|L	0.58810|0.58810	1.83|1.83	0.44282|0.44282	D|D	0.997148|0.997148	B;B|.	0.30584|.	0.286;0.242|.	B;B|.	0.35655|.	0.207;0.131|.	T|T	0.00066|0.00066	-1.2145|-1.2145	10|7	0.56958|0.72032	D|D	0.05|0.01	.|.	18.6247|18.6247	0.91333|0.91333	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	560;560|.	E9PE04;Q9HAR2-2|.	.;.|.	E|R	560;560;628;628;560;560;560;560;560;628;628;628;560;560;560;628;628;560|30	ENSP00000423388:Q560E;ENSP00000422533:Q560E;ENSP00000423787:Q628E;ENSP00000425033:Q628E;ENSP00000424120:Q560E;ENSP00000439831:Q560E;ENSP00000421476:Q628E;ENSP00000424030:Q628E;ENSP00000421372:Q628E;ENSP00000425201:Q560E;ENSP00000423434:Q560E;ENSP00000421627:Q560E;ENSP00000420931:Q628E;ENSP00000425884:Q628E;ENSP00000424258:Q560E|ENSP00000424402:T30R	ENSP00000280009:Q560E|ENSP00000424402:T30R	Q|T	+|+	1|2	0|0	LPHN3|LPHN3	62444142|62444142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.801000|4.801000	0.62532|0.62532	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	CAG|ACA	LPHN3	-	pfam_DUF3497		0.378	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	C			62761547	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	G
LYST	1130	genome.wustl.edu	37	1	235973634	235973634	+	Missense_Mutation	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:235973634G>T	ENST00000389794.3	-	5	658	c.484C>A	c.(484-486)Cag>Aag	p.Q162K	LYST_ENST00000536965.1_Missense_Mutation_p.Q162K|LYST_ENST00000389793.2_Missense_Mutation_p.Q162K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	162					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGGAGAGCTGTGTCTTTCTT	0.403																																																	0													150.0	146.0	148.0					1																	235973634		2203	4300	6503	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.484C>A	1.37:g.235973634G>T	ENSP00000374444:p.Gln162Lys		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q162K	ENST00000389794.3	37	c.484	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425608	0.62733	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.12984	2.63;2.63;2.63	5.62	5.62	0.85841	.	0.581042	0.18870	N	0.128864	T	0.15955	0.0384	L	0.56769	1.78	0.50171	D	0.999852	B;P	0.36162	0.3;0.54	B;B	0.30029	0.081;0.11	T	0.04242	-1.0966	10	0.27082	T	0.32	.	17.8482	0.88737	0.0:0.0:1.0:0.0	.	162;162	Q99698-3;Q99698	.;LYST_HUMAN	K	162	ENSP00000374444:Q162K;ENSP00000374443:Q162K;ENSP00000438315:Q162K	ENSP00000374443:Q162K	Q	-	1	0	LYST	234040257	1.000000	0.71417	0.980000	0.43619	0.966000	0.64601	9.102000	0.94226	2.656000	0.90262	0.563000	0.77884	CAG	LYST	-	NULL		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235973634	-1	no_errors	ENST00000389793	ensembl	human	known	70_37	missense	SNP	1.000	T
MAGEB1	4112	genome.wustl.edu	37	X	30269213	30269213	+	Silent	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:30269213G>A	ENST00000378981.3	+	4	924	c.603G>A	c.(601-603)ctG>ctA	p.L201L	MAGEB1_ENST00000397550.1_Silent_p.L201L|MAGEB1_ENST00000397548.2_Silent_p.L201L	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	201	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATGGGCTTCTGATGCCTCTCC	0.502																																																	0													87.0	65.0	72.0					X																	30269213		2202	4300	6502	SO:0001819	synonymous_variant	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.603G>A	X.37:g.30269213G>A			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L201	ENST00000378981.3	37	c.603	CCDS14222.1	X																																																																																			MAGEB1	-	pfam_MAGE,pfscan_MAGE		0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	G	NM_002363		30269213	+1	no_errors	ENST00000378981	ensembl	human	known	70_37	silent	SNP	0.046	A
MAGEE1	57692	genome.wustl.edu	37	X	75649283	75649283	+	Silent	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:75649283G>A	ENST00000361470.2	+	1	1238	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	320	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCACCTCCGTGCCGCCCACCC	0.711																																																	0													21.0	21.0	21.0					X																	75649283		2202	4296	6498	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.960G>A	X.37:g.75649283G>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V320	ENST00000361470.2	37	c.960	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.711	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649283	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.001	A
MAGEE1	57692	genome.wustl.edu	37	X	75649307	75649307	+	Silent	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:75649307G>A	ENST00000361470.2	+	1	1262	c.984G>A	c.(982-984)ctG>ctA	p.L328L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	328	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGGGGGACTGAGCACCTCCG	0.711																																																	0													21.0	21.0	21.0					X																	75649307		2200	4295	6495	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.984G>A	X.37:g.75649307G>A			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L328	ENST00000361470.2	37	c.984	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.711	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649307	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.000	A
KMT2D	8085	genome.wustl.edu	37	12	49439723	49439723	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:49439723G>A	ENST00000301067.7	-	18	4720	c.4721C>T	c.(4720-4722)cCc>cTc	p.P1574L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1574					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACCTTCATGGGCACCAGCTC	0.547																																																	0													71.0	81.0	78.0					12																	49439723		2024	4187	6211	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4721C>T	12.37:g.49439723G>A	ENSP00000301067:p.Pro1574Leu		O14687	Missense_Mutation	SNP	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_PHD-finger,pfscan_Znf_RING	p.P1574L	ENST00000301067.7	37	c.4721	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629447	0.46944	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	5.57	5.57	0.84162	Zinc finger, FYVE/PHD-type (1);	0.000000	0.38058	N	0.001838	T	0.78966	0.4367	N	0.20986	0.625	0.43317	D	0.995335	D	0.57257	0.979	P	0.52554	0.702	T	0.82086	-0.0631	10	0.87932	D	0	.	16.4738	0.84125	0.0:0.0:1.0:0.0	.	1574	O14686	MLL2_HUMAN	L	1574	ENSP00000301067:P1574L	ENSP00000301067:P1574L	P	-	2	0	MLL2	47725990	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.418000	0.66429	2.630000	0.89119	0.655000	0.94253	CCC	MLL2	-	superfamily_Znf_FYVE_PHD		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49439723	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	missense	SNP	0.999	A
MYH2	4620	genome.wustl.edu	37	17	10427875	10427875	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:10427875G>A	ENST00000245503.5	-	35	5467	c.5083C>T	c.(5083-5085)Cgg>Tgg	p.R1695W	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1695W|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1695					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGAGTGGCCCGCAGCTCCTCG	0.597																																																	0													89.0	85.0	86.0					17																	10427875		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5083C>T	17.37:g.10427875G>A	ENSP00000245503:p.Arg1695Trp		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1695W	ENST00000245503.5	37	c.5083	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196250	0.38806	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.31	-0.506	0.11989	Myosin tail (1);	0.000000	0.36002	U	0.002852	D	0.85483	0.5707	H	0.95712	3.71	0.46222	D	0.998937	B	0.11235	0.004	B	0.10450	0.005	T	0.82845	-0.0256	10	0.87932	D	0	.	16.5444	0.84410	0.0:0.0:0.3339:0.6661	.	1695	Q9UKX2	MYH2_HUMAN	W	1695	ENSP00000245503:R1695W;ENSP00000380367:R1695W	ENSP00000245503:R1695W	R	-	1	2	MYH2	10368600	0.997000	0.39634	0.995000	0.50966	0.990000	0.78478	0.775000	0.26689	-0.167000	0.10871	0.491000	0.48974	CGG	MYH2	-	pfam_Myosin_tail		0.597	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10427875	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	0.998	A
NAB2	4665	genome.wustl.edu	37	12	57488487	57488487	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:57488487G>A	ENST00000300131.3	+	7	1939	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.E457K	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	521					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTGGAGGCTGAGGCCAGCCG	0.637																																																	0													52.0	44.0	47.0					12																	57488487		2168	4226	6394	SO:0001583	missense	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.1561G>A	12.37:g.57488487G>A	ENSP00000300131:p.Glu521Lys		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.E521K	ENST00000300131.3	37	c.1561	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173100	0.78452	.	.	ENSG00000166886	ENST00000300131;ENST00000342556	.	.	.	4.08	4.08	0.47627	.	0.000000	0.37393	N	0.002118	T	0.45115	0.1326	N	0.14661	0.345	0.80722	D	1	P	0.46578	0.88	P	0.50270	0.636	T	0.52449	-0.8574	9	0.87932	D	0	-16.2696	12.1392	0.53989	0.0:0.0:1.0:0.0	.	521	Q15742	NAB2_HUMAN	K	521;457	.	ENSP00000300131:E521K	E	+	1	0	NAB2	55774754	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.361000	0.66092	2.003000	0.58678	0.491000	0.48974	GAG	NAB2	-	NULL		0.637	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	G	NM_005967		57488487	+1	no_errors	ENST00000300131	ensembl	human	known	70_37	missense	SNP	1.000	A
NAPSA	9476	genome.wustl.edu	37	19	50865026	50865026	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:50865026C>T	ENST00000253719.2	-	4	570	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	121					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGGATCAAATCGGTGGTGTAA	0.532																																																	0													115.0	104.0	108.0					19																	50865026		2203	4300	6503	SO:0001583	missense	9476			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.362G>A	19.37:g.50865026C>T	ENSP00000253719:p.Arg121Gln		Q8WWD9	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.R121Q	ENST00000253719.2	37	c.362	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	C	12.33	1.907027	0.33628	.	.	ENSG00000131400	ENST00000253719	T	0.57595	0.39	4.12	4.12	0.48240	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.108345	0.64402	D	0.000008	T	0.62624	0.2443	L	0.52573	1.65	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52366	-0.8585	10	0.59425	D	0.04	.	8.1835	0.31324	0.0:0.8853:0.0:0.1147	.	121	O96009	NAPSA_HUMAN	Q	121	ENSP00000253719:R121Q	ENSP00000253719:R121Q	R	-	2	0	NAPSA	55556838	0.000000	0.05858	0.223000	0.23860	0.010000	0.07245	0.234000	0.17930	1.997000	0.58415	0.484000	0.47621	CGA	NAPSA	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.532	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1	C	NM_004851		50865026	-1	no_errors	ENST00000253719	ensembl	human	known	70_37	missense	SNP	0.023	T
NAV3	89795	genome.wustl.edu	37	12	78515749	78515749	+	Missense_Mutation	SNP	C	C	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr12:78515749C>G	ENST00000397909.2	+	16	3952	c.3779C>G	c.(3778-3780)tCt>tGt	p.S1260C	NAV3_ENST00000536525.2_Missense_Mutation_p.S1260C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1260C|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1260	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGTGGCAAATCTGCCTCTGCA	0.458										HNSCC(70;0.22)																																							0													50.0	48.0	49.0					12																	78515749		1974	4173	6147	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3779C>G	12.37:g.78515749C>G	ENSP00000381007:p.Ser1260Cys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1260C	ENST00000397909.2	37	c.3779		12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298822	0.81025	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327	T;T;T	0.26957	1.7;1.7;1.7	6.06	6.06	0.98353	.	0.405716	0.17856	U	0.159684	T	0.27629	0.0679	N	0.22421	0.69	0.80722	D	1	P;P;P	0.41569	0.626;0.694;0.755	B;B;B	0.43331	0.289;0.302;0.416	T	0.03641	-1.1017	10	0.72032	D	0.01	-6.1049	20.6282	0.99521	0.0:1.0:0.0:0.0	.	1260;1260;1260	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	C	1260	ENSP00000446132:S1260C;ENSP00000381007:S1260C;ENSP00000228327:S1260C	ENSP00000228327:S1260C	S	+	2	0	NAV3	77039880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.705000	0.68355	2.871000	0.98454	0.655000	0.94253	TCT	NAV3	-	NULL		0.458	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78515749	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	G
NFE2L2	4780	genome.wustl.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	20	Substitution - Missense(20)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)											147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79K	ENST00000397062.3	37	c.235	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG	NFE2L2	-	NULL		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098810	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	T
NUDT12	83594	genome.wustl.edu	37	5	102895948	102895948	+	Start_Codon_SNP	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr5:102895948A>G	ENST00000230792.2	-	2	98	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NUDT12_ENST00000507423.1_Start_Codon_SNP_p.M1T	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	1					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TACAGAAGACATTTCTTCCTT	0.323																																																	0													60.0	59.0	59.0					5																	102895948		2202	4300	6502	SO:0001582	initiator_codon_variant	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.2T>C	5.37:g.102895948A>G	ENSP00000230792:p.Met1Thr		B3KUW2|Q8TAL7	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1T	ENST00000230792.2	37	c.2	CCDS4096.1	5	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324553	0.60634	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.22539	3.44;1.95	5.57	5.57	0.84162	.	0.148607	0.85682	D	0.000000	T	0.48822	0.1521	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.78314	0.991;0.84	T	0.53387	-0.8446	9	0.87932	D	0	-20.2479	15.7475	0.77958	1.0:0.0:0.0:0.0	.	1;1	E7EM93;Q9BQG2	.;NUD12_HUMAN	T	1	ENSP00000230792:M1T;ENSP00000424521:M1T	ENSP00000230792:M1T	M	-	2	0	NUDT12	102923847	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.343000	0.65976	2.102000	0.63906	0.528000	0.53228	ATG	NUDT12	-	NULL		0.323	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	HGNC	protein_coding	OTTHUMT00000250650.1	A	NM_031438	Missense_Mutation	102895948	-1	no_errors	ENST00000230792	ensembl	human	known	70_37	missense	SNP	1.000	G
OGT	8473	genome.wustl.edu	37	X	70779275	70779275	+	Splice_Site	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:70779275G>A	ENST00000373719.3	+	13	1978	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	OGT_ENST00000373701.3_Splice_Site_p.E577E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	587					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATAAATTTGAGGTAAGACTAG	0.413																																																	0													84.0	69.0	74.0					X																	70779275		2203	4300	6503	SO:0001630	splice_region_variant	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1761+1G>A	X.37:g.70779275G>A			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E587	ENST00000373719.3	37	c.1761	CCDS14414.1	X																																																																																			OGT	-	NULL		0.413	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	G	NM_003605, NM_181672	Silent	70779275	+1	no_errors	ENST00000373719	ensembl	human	known	70_37	silent	SNP	1.000	A
OR2C1	4993	genome.wustl.edu	37	16	3406533	3406533	+	Missense_Mutation	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr16:3406533T>C	ENST00000304936.2	+	1	645	c.593T>C	c.(592-594)gTg>gCg	p.V198A		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	198					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AACCAGGCTGTGCTCAATGGT	0.562																																																	0													129.0	102.0	111.0					16																	3406533		2197	4300	6497	SO:0001583	missense	4993			AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.593T>C	16.37:g.3406533T>C	ENSP00000307726:p.Val198Ala		A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V198A	ENST00000304936.2	37	c.593	CCDS10502.1	16	.	.	.	.	.	.	.	.	.	.	t	3.303	-0.142444	0.06669	.	.	ENSG00000168158	ENST00000304936	T	0.38077	1.16	4.81	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.450432	0.16372	N	0.217284	T	0.28797	0.0714	L	0.28458	0.855	0.26381	N	0.976739	B	0.25809	0.135	B	0.35688	0.208	T	0.29058	-1.0024	10	0.23302	T	0.38	.	8.9159	0.35581	0.0:0.0:0.3704:0.6296	.	198	O95371	OR2C1_HUMAN	A	198	ENSP00000307726:V198A	ENSP00000307726:V198A	V	+	2	0	OR2C1	3346534	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	0.351000	0.20096	0.823000	0.34589	0.416000	0.27883	GTG	OR2C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.562	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C1	HGNC	protein_coding	OTTHUMT00000206993.3	T			3406533	+1	no_errors	ENST00000304936	ensembl	human	known	70_37	missense	SNP	0.954	C
OR5D14	219436	genome.wustl.edu	37	11	55563530	55563530	+	Missense_Mutation	SNP	C	C	T	rs200387718		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:55563530C>T	ENST00000335605.1	+	1	499	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTATGCTCTCCGGTTAAACTT	0.493																																																	0													185.0	184.0	184.0					11																	55563530		2200	4296	6496	SO:0001583	missense	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.499C>T	11.37:g.55563530C>T	ENSP00000334456:p.Arg167Trp		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R167W	ENST00000335605.1	37	c.499	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	11.07	1.530943	0.27387	.	.	ENSG00000186113	ENST00000335605	T	0.00188	8.59	4.95	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.876997	0.09429	N	0.803313	T	0.00384	0.0012	M	0.69358	2.11	0.09310	N	1	D	0.56746	0.977	P	0.55303	0.773	T	0.54827	-0.8235	10	0.87932	D	0	0.5794	12.3418	0.55099	0.5681:0.4319:0.0:0.0	.	167	Q8NGL3	OR5DE_HUMAN	W	167	ENSP00000334456:R167W	ENSP00000334456:R167W	R	+	1	2	OR5D14	55320106	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.832000	0.04400	0.442000	0.26555	0.551000	0.68910	CGG	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	C	NM_001004735		55563530	+1	no_errors	ENST00000335605	ensembl	human	known	70_37	missense	SNP	0.001	T
OSBPL9	114883	genome.wustl.edu	37	1	52238276	52238276	+	Splice_Site	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:52238276G>A	ENST00000428468.1	+	14	1053		c.e14-1		OSBPL9_ENST00000531828.1_Splice_Site|OSBPL9_ENST00000462759.1_Splice_Site|OSBPL9_ENST00000371710.3_Splice_Site|OSBPL9_ENST00000337809.4_Splice_Site|OSBPL9_ENST00000361556.5_Splice_Site|OSBPL9_ENST00000371714.1_Splice_Site|OSBPL9_ENST00000530544.1_Splice_Site|OSBPL9_ENST00000435686.2_Splice_Site|OSBPL9_ENST00000453295.1_Splice_Site|OSBPL9_ENST00000447887.1_Splice_Site|OSBPL9_ENST00000486942.1_Splice_Site			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTTTATTTTAGACCTGTTTGA	0.408																																																	0													150.0	142.0	144.0					1																	52238276		2203	4300	6503	SO:0001630	splice_region_variant	114883			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1052-1G>A	1.37:g.52238276G>A			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Splice_Site	SNP	-	e14-1	ENST00000428468.1	37	c.1106-1	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082289	0.20309	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	.	.	.	4.77	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3946	0.67003	0.0:0.0:0.8512:0.1488	.	.	.	.	.	-1	.	.	.	+	.	.	OSBPL9	52010864	1.000000	0.71417	0.999000	0.59377	0.067000	0.16453	9.221000	0.95188	1.218000	0.43458	-0.188000	0.12872	.	OSBPL9	-	-		0.408	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	G		Intron	52238276	+1	no_errors	ENST00000371710	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PDHA2	5161	genome.wustl.edu	37	4	96762259	96762259	+	Missense_Mutation	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:96762259G>T	ENST00000295266.4	+	1	1021	c.958G>T	c.(958-960)Gat>Tat	p.D320Y		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	320					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AATTCTCCAAGATAGAATGGT	0.418																																																	0													77.0	77.0	77.0					4																	96762259		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.958G>T	4.37:g.96762259G>T	ENSP00000295266:p.Asp320Tyr		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.D320Y	ENST00000295266.4	37	c.958	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062371	0.36373	.	.	ENSG00000163114	ENST00000295266	D	0.97455	-4.39	4.91	3.18	0.36537	Dehydrogenase, E1 component (1);	0.155857	0.56097	D	0.000038	D	0.98074	0.9365	M	0.85373	2.75	0.58432	D	0.999998	D	0.76494	0.999	D	0.72625	0.978	D	0.97873	1.0287	10	0.87932	D	0	-23.3849	9.4318	0.38615	0.1749:0.0:0.8251:0.0	.	320	P29803	ODPAT_HUMAN	Y	320	ENSP00000295266:D320Y	ENSP00000295266:D320Y	D	+	1	0	PDHA2	96981282	1.000000	0.71417	0.018000	0.16275	0.306000	0.27790	4.922000	0.63404	0.785000	0.33685	0.467000	0.42956	GAT	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.418	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	G			96762259	+1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	0.967	T
PGLYRP2	114770	genome.wustl.edu	37	19	15580365	15580365	+	Intron	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:15580365G>A	ENST00000340880.4	-	4	2122				PGLYRP2_ENST00000292609.4_Silent_p.A573A	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2						defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGCTGTTACAGGCAGGGGGCA	0.677																																																	0													18.0	21.0	20.0					19																	15580365		692	1591	2283	SO:0001627	intron_variant	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1641+77C>T	19.37:g.15580365G>A			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.A573	ENST00000340880.4	37	c.1719	CCDS12330.2	19																																																																																			PGLYRP2	-	NULL		0.677	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	G	NM_052890		15580365	-1	no_errors	ENST00000292609	ensembl	human	known	70_37	silent	SNP	0.031	A
PIK3CA	5290	genome.wustl.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106			G -> V (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity).		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.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAACCAGTAGGCAACCGTGAA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	12	Substitution - Missense(7)|Deletion - In frame(4)|Complex - deletion inframe(1)	lung(4)|large_intestine(3)|breast(3)|endometrium(2)											90.0	86.0	87.0					3																	178916930		1825	4072	5897	SO:0001583	missense	5290				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.317G>T	3.37:g.178916930G>T	ENSP00000263967:p.Gly106Val		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.G106V	ENST00000263967.3	37	c.317	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216426	0.79352	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74421	0.67;-0.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86624	0.1881	9	.	.	.	-7.432	19.4271	0.94746	0.0:0.0:1.0:0.0	.	106	P42336	PK3CA_HUMAN	V	106	ENSP00000263967:G106V;ENSP00000417479:G106V	.	G	+	2	0	PIK3CA	180399624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.563000	0.82314	2.584000	0.87258	0.555000	0.69702	GGC	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178916930	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	T
PLXDC2	84898	genome.wustl.edu	37	10	20506461	20506461	+	Missense_Mutation	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr10:20506461G>T	ENST00000377252.4	+	11	2070	c.1229G>T	c.(1228-1230)aGa>aTa	p.R410I	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.R361I	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	410	Thr-rich.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACTACCACCAGAAGAGCAGTG	0.438																																																	0													107.0	96.0	99.0					10																	20506461		2203	4300	6503	SO:0001583	missense	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1229G>T	10.37:g.20506461G>T	ENSP00000366460:p.Arg410Ile		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.R410I	ENST00000377252.4	37	c.1229	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715760	0.48622	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.36340	1.26;1.26	5.37	3.49	0.39957	.	0.314525	0.38663	N	0.001604	T	0.33760	0.0874	L	0.35414	1.06	0.51482	D	0.999921	D;P	0.53151	0.958;0.93	P;P	0.51135	0.66;0.459	T	0.01635	-1.1307	10	0.35671	T	0.21	.	9.7992	0.40753	0.1469:0.0:0.8531:0.0	.	361;410	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	I	410;361;273;396	ENSP00000366460:R410I;ENSP00000366450:R361I	ENSP00000366446:R273I	R	+	2	0	PLXDC2	20546467	0.257000	0.24022	1.000000	0.80357	0.390000	0.30446	0.781000	0.26774	2.531000	0.85337	0.563000	0.77884	AGA	PLXDC2	-	NULL		0.438	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	G	NM_032812		20506461	+1	no_errors	ENST00000377252	ensembl	human	known	70_37	missense	SNP	0.976	T
PPIL6	285755	genome.wustl.edu	37	6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:109752404C>T	ENST00000521072.2	-	3	956	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_ENST00000424445.2_Missense_Mutation_p.A94T|PPIL6_ENST00000524031.1_5'UTR|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000440797.2_Missense_Mutation_p.A126T	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	126					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393																																																	0													110.0	112.0	111.0					6																	109752404		2203	4300	6503	SO:0001583	missense	285755				CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.376G>A	6.37:g.109752404C>T	ENSP00000427929:p.Ala126Thr		A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.A126T	ENST00000521072.2	37	c.376	CCDS5074.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.036105|4.036105	0.75617|0.75617	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.31247|.	2.08;2.06;2.07;1.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71879|0.71879	0.3392|0.3392	M|M	0.77820|0.77820	2.39|2.39	0.54753|0.54753	D|D	0.999987|0.999987	D;D;D|.	0.63880|.	0.987;0.993;0.987|.	P;P;P|.	0.46320|.	0.512;0.512;0.512|.	T|T	0.72839|0.72839	-0.4171|-0.4171	10|5	0.59425|.	D|.	0.04|.	-15.54|-15.54	17.6308|17.6308	0.88106|0.88106	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	126;94;126|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	T|H	94;126;126;83|65;73	ENSP00000407731:A94T;ENSP00000392257:A126T;ENSP00000427929:A126T;ENSP00000411731:A83T|.	ENSP00000411731:A83T|.	A|R	-|-	1|2	0|0	PPIL6|PPIL6	109859097|109859097	0.998000|0.998000	0.40836|0.40836	0.106000|0.106000	0.21319|0.21319	0.012000|0.012000	0.07955|0.07955	4.021000|4.021000	0.57196|0.57196	2.441000|2.441000	0.82636|0.82636	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PPIL6	-	NULL		0.393	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	HGNC	protein_coding	OTTHUMT00000089003.4	C			109752404	-1	no_errors	ENST00000521072	ensembl	human	known	70_37	missense	SNP	0.976	T
PRMT5	10419	genome.wustl.edu	37	14	23398532	23398532	+	Silent	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr14:23398532G>A	ENST00000324366.8	-	1	262	c.39C>T	c.(37-39)cgC>cgT	p.R13R	PRMT5_ENST00000397441.2_5'UTR|PRMT5_ENST00000397440.4_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000553897.1_Silent_p.R13R|PRMT5_ENST00000216350.8_5'UTR|PRMT5-AS1_ENST00000595662.1_RNA|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	13	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CGCTGGACACGCGGCTCCCAC	0.622																																																	0													41.0	34.0	37.0					14																	23398532		2203	4300	6503	SO:0001819	synonymous_variant	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.39C>T	14.37:g.23398532G>A			A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Silent	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.R13	ENST00000324366.8	37	c.39	CCDS9579.1	14																																																																																			PRMT5	-	pirsf_Arg_MeTrfase_PRMT5		0.622	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	G			23398532	-1	no_errors	ENST00000324366	ensembl	human	known	70_37	silent	SNP	1.000	A
PSTPIP2	9050	genome.wustl.edu	37	18	43579406	43579406	+	Missense_Mutation	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr18:43579406T>C	ENST00000409746.5	-	7	583	c.512A>G	c.(511-513)gAa>gGa	p.E171G	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.E171G	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	171						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GGGTACCTTTTCTTGTTGCTT	0.468																																																	0													173.0	174.0	174.0					18																	43579406		2203	4300	6503	SO:0001583	missense	9050				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.512A>G	18.37:g.43579406T>C	ENSP00000387261:p.Glu171Gly			Missense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.E171G	ENST00000409746.5	37	c.512	CCDS32820.2	18	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912823	0.72983	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.54866	0.55	5.23	5.23	0.72850	.	0.104953	0.64402	D	0.000005	T	0.75087	0.3802	M	0.88640	2.97	0.49798	D	0.999821	D;D	0.76494	0.999;0.997	D;P	0.65987	0.94;0.907	T	0.80937	-0.1159	10	0.87932	D	0	-14.5185	14.3817	0.66916	0.0:0.0:0.0:1.0	.	171;171	Q9H939-2;Q9H939	.;PPIP2_HUMAN	G	171	ENSP00000387261:E171G	ENSP00000353189:E171G	E	-	2	0	PSTPIP2	41833404	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.843000	0.69424	2.105000	0.64084	0.402000	0.26972	GAA	PSTPIP2	-	NULL		0.468	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1	T			43579406	-1	no_errors	ENST00000409746	ensembl	human	known	70_37	missense	SNP	1.000	C
PTH2R	5746	genome.wustl.edu	37	2	209358187	209358187	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:209358187C>T	ENST00000272847.2	+	13	1669	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	486					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CAGCAGACAGCCTGACAGCCA	0.577																																																	0													67.0	53.0	58.0					2																	209358187		2203	4300	6503	SO:0001583	missense	5746			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1456C>T	2.37:g.209358187C>T	ENSP00000272847:p.Pro486Ser		Q8N429	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P486S	ENST00000272847.2	37	c.1456	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579166	0.00879	.	.	ENSG00000144407	ENST00000272847	T	0.61742	0.08	5.64	1.42	0.22433	.	0.458627	0.16091	U	0.230057	T	0.41213	0.1149	L	0.43152	1.355	0.25084	N	0.990901	B;B	0.16396	0.009;0.017	B;B	0.12837	0.008;0.002	T	0.20140	-1.0284	9	.	.	.	.	3.0489	0.06162	0.2904:0.3749:0.2514:0.0833	.	375;486	B4DFN8;P49190	.;PTH2R_HUMAN	S	486	ENSP00000272847:P486S	.	P	+	1	0	PTH2R	209066432	0.000000	0.05858	0.014000	0.15608	0.019000	0.09904	-0.035000	0.12205	0.271000	0.22005	-0.216000	0.12614	CCT	PTH2R	-	NULL		0.577	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2	C	NM_005048		209358187	+1	no_errors	ENST00000272847	ensembl	human	known	70_37	missense	SNP	0.807	T
RANBP17	64901	genome.wustl.edu	37	5	170722906	170722906	+	Silent	SNP	A	A	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr5:170722906A>C	ENST00000523189.1	+	27	3222	c.3058A>C	c.(3058-3060)Aga>Cga	p.R1020R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1020					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTGAACTGAGAGCAAGTTT	0.532			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													129.0	123.0	125.0					5																	170722906		2203	4300	6503	SO:0001819	synonymous_variant	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3058A>C	5.37:g.170722906A>C			Q8IU74	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R1020	ENST00000523189.1	37	c.3058	CCDS34287.1	5																																																																																			RANBP17	-	NULL		0.532	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	A	NM_022897		170722906	+1	no_errors	ENST00000523189	ensembl	human	known	70_37	silent	SNP	1.000	C
RPGR	6103	genome.wustl.edu	37	X	38145271	38145272	+	Intron	INS	-	-	CCC			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chrX:38145271_38145272insCCC	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_In_Frame_Ins_p.993_994insG|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ttcttccccttcctcctcttcc	0.609																																																	0									,	22,3370		0,22,0,1474,400					,	-0.6	0.0			12	50,5822		2,31,15,2183,1425	no	coding,intron	RPGR	NM_001034853.1,NM_000328.2	,	2,53,15,3657,1825	A1A1,A1R,A1,RR,R		0.8515,0.6486,0.7772	,	,		72,9192				SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1074->GGG	X.37:g.38145271_38145272insCCC			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	In_Frame_Ins	INS	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.994in_frame_insG	ENST00000339363.3	37	c.2981_2980		X																																																																																			RPGR	-	NULL		0.609	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		-	NM_000328		38145272	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	in_frame_ins	INS	0.060:0.135	CCC
SCARF1	8578	genome.wustl.edu	37	17	1540334	1540334	+	Missense_Mutation	SNP	C	C	T	rs369633804		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:1540334C>T	ENST00000263071.4	-	9	1436	c.1387G>A	c.(1387-1389)Gtg>Atg	p.V463M	SCARF1_ENST00000571272.1_Missense_Mutation_p.V463M|SCARF1_ENST00000348987.3_Missense_Mutation_p.V377M	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	463					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATCCTGGACACGGTAGCTCCA	0.632																																																	0									MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	79.0	65.0	70.0		1387,1387,1129	1.0	0.1	17		70	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	SCARF1	NM_003693.2,NM_145350.1,NM_145352.2	21,21,21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	463/831,463/570,377/745	1540334	2,13004	2203	4300	6503	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1387G>A	17.37:g.1540334C>T	ENSP00000263071:p.Val463Met		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.V463M	ENST00000263071.4	37	c.1387	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	C	5.669	0.308023	0.10733	0.0	2.33E-4	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T	0.35421	1.31;1.31	5.48	1.02	0.19986	.	0.820776	0.10251	N	0.697193	T	0.15219	0.0367	N	0.21142	0.635	0.09310	N	1	B;P;P	0.38280	0.414;0.552;0.625	B;B;B	0.24155	0.051;0.037;0.034	T	0.13926	-1.0491	10	0.27082	T	0.32	-0.0265	1.2129	0.01908	0.289:0.3133:0.2377:0.1601	.	377;463;463	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	M	463;377;463	ENSP00000263071:V463M;ENSP00000323964:V377M	ENSP00000263071:V463M	V	-	1	0	SCARF1	1487084	0.000000	0.05858	0.096000	0.21009	0.247000	0.25773	-0.499000	0.06413	-0.043000	0.13513	0.556000	0.70494	GTG	SCARF1	-	NULL		0.632	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	C	NM_003693		1540334	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	0.052	T
RUNDC1	146923	genome.wustl.edu	37	17	41142345	41142345	+	Missense_Mutation	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr17:41142345A>G	ENST00000361677.1	+	4	880	c.868A>G	c.(868-870)Agc>Ggc	p.S290G		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	290										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGAAGTGGGAAGCCCCTTGCA	0.463																																																	0													87.0	91.0	90.0					17																	41142345		2203	4300	6503	SO:0001583	missense	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.868A>G	17.37:g.41142345A>G	ENSP00000354622:p.Ser290Gly		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.S290G	ENST00000361677.1	37	c.868	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214865	0.39102	.	.	ENSG00000198863	ENST00000361677	T	0.18810	2.19	5.21	5.21	0.72293	.	0.102279	0.64402	D	0.000003	T	0.18173	0.0436	L	0.38531	1.155	0.42859	D	0.994102	B	0.02656	0.0	B	0.06405	0.002	T	0.02901	-1.1096	10	0.40728	T	0.16	-14.8997	12.9469	0.58376	1.0:0.0:0.0:0.0	.	290	Q96C34	RUND1_HUMAN	G	290	ENSP00000354622:S290G	ENSP00000354622:S290G	S	+	1	0	RUNDC1	38395871	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.685000	0.61693	2.177000	0.69029	0.460000	0.39030	AGC	RUNDC1	-	NULL		0.463	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	A	NM_173079		41142345	+1	no_errors	ENST00000361677	ensembl	human	known	70_37	missense	SNP	1.000	G
SERPINA9	327657	genome.wustl.edu	37	14	94945595	94945595	+	5'UTR	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr14:94945595C>T	ENST00000539349.1	-	0	431				SERPINA9_ENST00000546329.1_5'Flank			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ttccaggtcccatgcagaact	0.458																																																	0													106.0	94.0	98.0					14																	94945595		692	1591	2283	SO:0001623	5_prime_UTR_variant	327657			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000539349.1:c.-149G>A	14.37:g.94945595C>T			B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	RNA	SNP	-	NULL	ENST00000539349.1	37	NULL		14																																																																																			SERPINA9	-	-		0.458	SERPINA9-007	PUTATIVE	basic	processed_transcript	SERPINA9	HGNC	protein_coding	OTTHUMT00000395804.1	C	NM_175739		94945595	-1	no_errors	ENST00000539349	ensembl	human	putative	70_37	rna	SNP	0.000	T
SHANK3	85358	genome.wustl.edu	37	22	51117841	51117841	+	Silent	SNP	T	T	C	rs202089750	byFrequency	TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr22:51117841T>C	ENST00000414786.2	+	7	1097	c.870T>C	c.(868-870)tgT>tgC	p.C290C	SHANK3_ENST00000262795.3_Silent_p.C290C|SHANK3_ENST00000445220.2_Silent_p.C290C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	290					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.C290C(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGCACATCTGTGCCCTCTACA	0.602																																																	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)											39.0	47.0	44.0					22																	51117841		2197	4296	6493	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.870T>C	22.37:g.51117841T>C			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.C290	ENST00000414786.2	37	c.870		22																																																																																			SHANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.602	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	T	NM_001080420		51117841	+1	no_errors	ENST00000262795	ensembl	human	known	70_37	silent	SNP	1.000	C
SIGLEC1	6614	genome.wustl.edu	37	20	3677954	3677954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:3677954G>A	ENST00000344754.4	-	9	2157	c.2158C>T	c.(2158-2160)Cag>Tag	p.Q720*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Q720*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	720	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGCCCTCCTGAAGTGTGTGT	0.637																																																	0													80.0	74.0	76.0					20																	3677954		2203	4300	6503	SO:0001587	stop_gained	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2158C>T	20.37:g.3677954G>A	ENSP00000341141:p.Gln720*		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q720*	ENST00000344754.4	37	c.2158	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.174054	0.94807	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	.	.	.	5.31	0.719	0.18208	.	2.898460	0.01241	N	0.008602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	2.8044	0.05423	0.0906:0.1522:0.4092:0.348	.	.	.	.	X	720	.	ENSP00000202578:Q720X	Q	-	1	0	SIGLEC1	3625954	0.028000	0.19301	0.001000	0.08648	0.063000	0.16089	1.113000	0.31184	0.352000	0.24053	0.561000	0.74099	CAG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	G	NM_023068		3677954	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	nonsense	SNP	0.001	A
SLC24A3	57419	genome.wustl.edu	37	20	19666001	19666001	+	Silent	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:19666001C>T	ENST00000328041.6	+	12	1517	c.1320C>T	c.(1318-1320)acC>acT	p.T440T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	440					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATTCGACACCCCCTGTAAGA	0.448																																																	0													138.0	123.0	128.0					20																	19666001		2203	4300	6503	SO:0001819	synonymous_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1320C>T	20.37:g.19666001C>T			B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.T440	ENST00000328041.6	37	c.1320	CCDS13140.1	20																																																																																			SLC24A3	-	tigrfam_K/Na/Ca-exchanger		0.448	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19666001	+1	no_errors	ENST00000328041	ensembl	human	known	70_37	silent	SNP	0.995	T
STXBP5	134957	genome.wustl.edu	37	6	147680232	147680232	+	Missense_Mutation	SNP	A	A	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:147680232A>G	ENST00000321680.6	+	23	2318	c.2318A>G	c.(2317-2319)aAc>aGc	p.N773S	STXBP5_ENST00000367481.3_Missense_Mutation_p.N737S|STXBP5_ENST00000367480.3_Missense_Mutation_p.N720S|STXBP5_ENST00000179882.6_Missense_Mutation_p.N428S	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	773					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTAAAGGATAACTCCTTTAGC	0.343																																																	0													64.0	65.0	65.0					6																	147680232		2203	4300	6503	SO:0001583	missense	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2318A>G	6.37:g.147680232A>G	ENSP00000321826:p.Asn773Ser		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.N773S	ENST00000321680.6	37	c.2318	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347827	0.41599	.	.	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.47	5.47	0.80525	.	0.045027	0.85682	D	0.000000	T	0.12305	0.0299	L	0.48362	1.52	0.58432	D	0.999998	B;B;B	0.26081	0.141;0.108;0.108	B;B;B	0.22753	0.041;0.027;0.025	T	0.04946	-1.0916	10	0.22109	T	0.4	.	15.5559	0.76192	1.0:0.0:0.0:0.0	.	737;773;428	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	S	112;737;773;720;428;97	ENSP00000356451:N737S;ENSP00000321826:N773S;ENSP00000356450:N720S;ENSP00000179882:N428S;ENSP00000376112:N97S	ENSP00000179882:N428S	N	+	2	0	STXBP5	147721925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.905000	0.69893	2.078000	0.62432	0.533000	0.62120	AAC	STXBP5	-	NULL		0.343	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	A			147680232	+1	no_errors	ENST00000321680	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNDIG1	79953	genome.wustl.edu	37	20	24523867	24523867	+	Missense_Mutation	SNP	C	C	T	rs199777977		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr20:24523867C>T	ENST00000376862.3	+	2	767	c.134C>T	c.(133-135)gCg>gTg	p.A45V		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	45					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GTTTACCCAGCGCCCCAGTAC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17083	0.0		0.001	False		,,,				2504	0.0																0								C	VAL/ALA	0,4406		0,0,2203	58.0	63.0	62.0		134	4.8	0.8	20		62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SYNDIG1	NM_024893.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	45/259	24523867	1,13005	2203	4300	6503	SO:0001583	missense	79953			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.134C>T	20.37:g.24523867C>T	ENSP00000366058:p.Ala45Val		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.A45V	ENST00000376862.3	37	c.134	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513948	0.44763	0.0	1.16E-4	ENSG00000101463	ENST00000376862	D	0.91011	-2.77	5.72	4.76	0.60689	.	0.467618	0.23364	N	0.048981	D	0.84410	0.5466	L	0.47716	1.5	0.38885	D	0.956991	P	0.40144	0.704	B	0.31869	0.137	D	0.83558	0.0105	10	0.39692	T	0.17	-15.8547	9.8976	0.41329	0.0:0.9018:0.0:0.0982	.	45	Q9H7V2	SYNG1_HUMAN	V	45	ENSP00000366058:A45V	ENSP00000366058:A45V	A	+	2	0	SYNDIG1	24471867	0.658000	0.27402	0.828000	0.32881	0.638000	0.38207	3.789000	0.55454	1.359000	0.45940	0.655000	0.94253	GCG	SYNDIG1	-	NULL		0.582	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	C	NM_024893		24523867	+1	no_errors	ENST00000376862	ensembl	human	known	70_37	missense	SNP	0.691	T
SYNE1	23345	genome.wustl.edu	37	6	152510392	152510392	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr6:152510392G>A	ENST00000367255.5	-	128	23897	c.23296C>T	c.(23296-23298)Cac>Tac	p.H7766Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.H7378Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H7695Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2290Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H7766Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H7695Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7766					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTACCTGGTGGCATAGTTCT	0.448										HNSCC(10;0.0054)																																							0													118.0	109.0	112.0					6																	152510392		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23296C>T	6.37:g.152510392G>A	ENSP00000356224:p.His7766Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H7766Y	ENST00000367255.5	37	c.23296	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103734	0.37145	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.99	5.99	0.97316	.	0.097957	0.44902	D	0.000410	T	0.60170	0.2248	M	0.82630	2.6	0.58432	D	0.999999	D;D;D;D	0.61697	0.97;0.97;0.99;0.983	P;P;D;P	0.68192	0.904;0.904;0.956;0.904	T	0.62129	-0.6919	10	0.62326	D	0.03	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	7766;7766;7695;7695	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	Y	7766;412;7695;7766;7695;7378;2290;688	ENSP00000356224:H7766Y;ENSP00000356226:H412Y;ENSP00000396024:H7695Y;ENSP00000265368:H7766Y;ENSP00000390975:H7695Y;ENSP00000341887:H7378Y;ENSP00000349276:H2290Y;ENSP00000356220:H688Y	ENSP00000265368:H7766Y	H	-	1	0	SYNE1	152552085	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.929000	0.87595	2.840000	0.97914	0.655000	0.94253	CAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152510392	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	A
TCEB3B	51224	genome.wustl.edu	37	18	44561176	44561176	+	Missense_Mutation	SNP	C	C	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr18:44561176C>G	ENST00000332567.4	-	1	812	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	154					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CACTTTCTCTCAGCTCTGGGC	0.662																																																	0													52.0	60.0	57.0					18																	44561176		2203	4300	6503	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.460G>C	18.37:g.44561176C>G	ENSP00000331302:p.Glu154Gln		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.E154Q	ENST00000332567.4	37	c.460	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	4.390	0.071911	0.08436	.	.	ENSG00000206181	ENST00000332567	T	0.09163	3.01	2.33	-4.65	0.03339	.	2.005960	0.02809	U	0.124071	T	0.07999	0.0200	L	0.33485	1.01	0.09310	N	1	B	0.21071	0.051	B	0.14578	0.011	T	0.27640	-1.0068	10	0.21540	T	0.41	-1.6045	6.2844	0.21025	0.0:0.3452:0.4509:0.204	.	154	Q8IYF1	ELOA2_HUMAN	Q	154	ENSP00000331302:E154Q	ENSP00000331302:E154Q	E	-	1	0	TCEB3B	42815174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.798000	0.04565	-2.238000	0.00712	-1.962000	0.00476	GAG	TCEB3B	-	NULL		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	C	NM_016427		44561176	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	missense	SNP	0.000	G
THSD7A	221981	genome.wustl.edu	37	7	11419307	11419307	+	Missense_Mutation	SNP	C	C	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr7:11419307C>T	ENST00000423059.4	-	25	4791	c.4540G>A	c.(4540-4542)Gac>Aac	p.D1514N	AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1514					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAAGACCTGTCGGCATCAGGC	0.468										HNSCC(18;0.044)																																							0													74.0	74.0	74.0					7																	11419307		2001	4159	6160	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4540G>A	7.37:g.11419307C>T	ENSP00000406482:p.Asp1514Asn			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.D1514N	ENST00000423059.4	37	c.4540	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276968	0.59758	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58210	0.35	5.73	5.73	0.89815	.	0.042253	0.85682	D	0.000000	T	0.48077	0.1480	L	0.46157	1.445	0.54753	D	0.999983	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.007	T	0.42816	-0.9429	10	0.12430	T	0.62	.	19.8978	0.96973	0.0:1.0:0.0:0.0	.	1514;1514	Q9UPZ6;C9JL67	THS7A_HUMAN;.	N	1514	ENSP00000406482:D1514N	ENSP00000262042:D1514N	D	-	1	0	THSD7A	11385832	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	2.082000	0.41605	2.703000	0.92315	0.557000	0.71058	GAC	THSD7A	-	NULL		0.468	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11419307	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM80	283232	genome.wustl.edu	37	11	695769	695769	+	Missense_Mutation	SNP	G	G	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr11:695769G>C	ENST00000608174.1	+	1	154	c.17G>C	c.(16-18)cGa>cCa	p.R6P	TMEM80_ENST00000397512.3_Missense_Mutation_p.R6P|TMEM80_ENST00000397510.3_Missense_Mutation_p.R54P|DEAF1_ENST00000338675.6_5'Flank|DEAF1_ENST00000382409.3_5'Flank	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGAGCGCGAGCGCGCGGG	0.766																																																	0													1.0	1.0	1.0					11																	695769		665	1854	2519	SO:0001583	missense	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.17G>C	11.37:g.695769G>C	ENSP00000476563:p.Arg6Pro		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.R6P	ENST00000608174.1	37	c.17	CCDS41587.1	11	.	.	.	.	.	.	.	.	.	.	G	6.526	0.465282	0.12402	.	.	ENSG00000177042	ENST00000397510;ENST00000397512	D;D	0.91945	-2.94;-1.8	1.31	0.276	0.15663	.	.	.	.	.	T	0.79793	0.4507	N	0.08118	0	0.18873	N	0.999983	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.66204	-0.5982	9	0.31617	T	0.26	.	5.1349	0.14930	0.0:0.3781:0.6219:0.0	.	6;6	Q96HE8-2;Q96HE8	.;TMM80_HUMAN	P	6	ENSP00000380646:R6P;ENSP00000380648:R6P	ENSP00000380646:R6P	R	+	2	0	TMEM80	685769	0.000000	0.05858	0.008000	0.14137	0.216000	0.24613	-0.063000	0.11655	0.086000	0.17137	0.462000	0.41574	CGA	TMEM80	-	NULL		0.766	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	G	NM_174940		695769	+1	no_errors	ENST00000397510	ensembl	human	known	70_37	missense	SNP	0.009	C
TRAK1	22906	genome.wustl.edu	37	3	42251577	42251578	+	Intron	INS	-	-	GGA	rs10634555|rs35624871		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE|TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					GBM(44;195 884 22595 31865 41850)												1	Deletion - In frame(1)	kidney(1)																																								SO:0001627	intron_variant	22906				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.634in_frame_insE	ENST00000327628.5	37	c.1889_1890	CCDS43072.1	3																																																																																			TRAK1	-	NULL		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	NM_014965		42251578	+1	no_errors	ENST00000341421	ensembl	human	known	70_37	in_frame_ins	INS	0.010:0.044	GGA
TRIOBP	11078	genome.wustl.edu	37	22	38151132	38151132	+	Missense_Mutation	SNP	G	G	A			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr22:38151132G>A	ENST00000406386.3	+	14	5767	c.5512G>A	c.(5512-5514)Gac>Aac	p.D1838N	TRIOBP_ENST00000403663.2_Missense_Mutation_p.D125N|TRIOBP_ENST00000407319.2_Missense_Mutation_p.D125N	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1838	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGGTGAGATCGACCTGCGTTC	0.637																																																	0													71.0	52.0	58.0					22																	38151132		2203	4300	6503	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5512G>A	22.37:g.38151132G>A	ENSP00000384312:p.Asp1838Asn		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1838N	ENST00000406386.3	37	c.5512	CCDS43015.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.183467|5.183467	0.94885|0.94885	.|.	.|.	ENSG00000100106|ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857|ENST00000428075	T;T;T;T;T;T|.	0.75704|.	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.61299|0.61299	0.2336|0.2336	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.976;0.99;0.997|.	T|T	0.58393|0.58393	-0.7644|-0.7644	9|5	0.42905|.	T|.	0.14|.	.|.	17.8134|17.8134	0.88623|0.88623	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	125;125;1838|.	F8W6V6;F2Z2W0;Q9H2D6|.	.;.;TARA_HUMAN|.	N|Q	1838;125;125;84;54;54|78	ENSP00000384312:D1838N;ENSP00000383913:D125N;ENSP00000386026:D125N;ENSP00000396946:D84N;ENSP00000407542:D54N;ENSP00000387881:D54N|.	ENSP00000386026:D125N|.	D|R	+|+	1|2	0|0	TRIOBP|TRIOBP	36481078|36481078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.363000|9.363000	0.97131|0.97131	2.182000|2.182000	0.69389|0.69389	0.655000|0.655000	0.94253|0.94253	GAC|CGA	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.637	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38151132	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179430904	179430904	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:179430904delT	ENST00000591111.1	-	276	75256	c.75032delA	c.(75031-75033)aacfs	p.N25011fs	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.N26652fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.N17587fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.N17779fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.N24084fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.N17712fs			Q8WZ42	TITIN_HUMAN	titin	25011	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTATCACAGTTATCTATTGA	0.398																																																	0													129.0	126.0	127.0					2																	179430904		1862	4095	5957	SO:0001589	frameshift_variant	7273			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.75032delA	2.37:g.179430904delT	ENSP00000465570:p.Asn25011fs		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	Frame_Shift_Del	DEL	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.N24084fs	ENST00000591111.1	37	c.72251		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179430904	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179584117	179584117	+	Silent	SNP	G	G	T			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr2:179584117G>T	ENST00000591111.1	-	81	23273	c.23049C>A	c.(23047-23049)gcC>gcA	p.A7683A	TTN_ENST00000589042.1_Silent_p.A8000A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A6756A|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13227	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAACTGAGGCCCCCAGGA	0.502																																																	0													85.0	88.0	87.0					2																	179584117		1898	4115	6013	SO:0001819	synonymous_variant	7273			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.23049C>A	2.37:g.179584117G>T			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	Silent	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.A6756	ENST00000591111.1	37	c.20268		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179584117	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.002	T
WRN	7486	genome.wustl.edu	37	8	30969312	30969312	+	Missense_Mutation	SNP	C	C	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr8:30969312C>G	ENST00000298139.5	+	19	2519	c.2270C>G	c.(2269-2271)aCa>aGa	p.T757R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	757	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTGTCAAAACAAGGTAAGGA	0.328			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0													55.0	56.0	56.0					8																	30969312		2203	4300	6503	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2270C>G	8.37:g.30969312C>G	ENSP00000298139:p.Thr757Arg		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.T757R	ENST00000298139.5	37	c.2270	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	C	4.309	0.056552	0.08291	.	.	ENSG00000165392	ENST00000298139	T	0.04502	3.61	5.15	5.15	0.70609	Helicase, C-terminal (1);	0.339568	0.29253	N	0.012686	T	0.03608	0.0103	N	0.24115	0.695	0.23751	N	0.996948	B;B	0.33022	0.394;0.394	B;B	0.30401	0.115;0.115	T	0.43637	-0.9379	10	0.33141	T	0.24	-5.6709	8.6864	0.34240	0.2729:0.5871:0.14:0.0	.	167;757	Q59F09;Q14191	.;WRN_HUMAN	R	757	ENSP00000298139:T757R	ENSP00000298139:T757R	T	+	2	0	WRN	31088854	0.995000	0.38212	0.729000	0.30791	0.237000	0.25408	2.237000	0.43061	2.394000	0.81467	0.557000	0.71058	ACA	WRN	-	pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ		0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	C			30969312	+1	no_errors	ENST00000298139	ensembl	human	known	70_37	missense	SNP	0.884	G
ZDHHC11	79844	genome.wustl.edu	37	5	710972	710973	+	3'UTR	DEL	GA	GA	-			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr5:710972_710973delGA	ENST00000424784.2	-	0	1957_1958				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCAGTACTGTGAGCTCCCATTT	0.525																																																	0																																										SO:0001624	3_prime_UTR_variant	653082			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.*717TC>-	5.37:g.710972_710973delGA			Q6UWR9	RNA	DEL	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			ZDHHC11B	-	-		0.525	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		GA	NM_024786		710973	-1	no_errors	ENST00000522356	ensembl	human	known	70_37	rna	DEL	0.714:0.115	-
ZFP28	140612	genome.wustl.edu	37	19	57065086	57065086	+	Missense_Mutation	SNP	T	T	G			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:57065086T>G	ENST00000301318.3	+	8	1003	c.932T>G	c.(931-933)tTt>tGt	p.F311C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CAGGAATTATTTCCAAAGCAA	0.398																																					Ovarian(124;554 1662 19430 21141 52494)												0													69.0	64.0	66.0					19																	57065086		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.932T>G	19.37:g.57065086T>G	ENSP00000301318:p.Phe311Cys		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F311C	ENST00000301318.3	37	c.932	CCDS12946.1	19	.	.	.	.	.	.	.	.	.	.	T	10.58	1.388738	0.25118	.	.	ENSG00000196867	ENST00000301318	T	0.04917	3.53	4.82	3.76	0.43208	.	0.699408	0.12536	N	0.460353	T	0.07593	0.0191	L	0.32530	0.975	0.20403	N	0.999901	D	0.58620	0.983	P	0.46975	0.533	T	0.32052	-0.9921	10	0.39692	T	0.17	.	8.7847	0.34814	0.1689:0.0:0.0:0.8311	.	311	Q8NHY6	ZFP28_HUMAN	C	311	ENSP00000301318:F311C	ENSP00000301318:F311C	F	+	2	0	ZFP28	61756898	0.000000	0.05858	0.427000	0.26684	0.823000	0.46562	-0.254000	0.08781	0.806000	0.34183	0.533000	0.62120	TTT	ZFP28	-	NULL		0.398	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	T	NM_020828		57065086	+1	no_errors	ENST00000301318	ensembl	human	known	70_37	missense	SNP	0.028	G
ZNF277	11179	genome.wustl.edu	37	7	111846792	111846792	+	Frame_Shift_Del	DEL	G	G	-	rs375891848		TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr7:111846792delG	ENST00000361822.3	+	1	150	c.21delG	c.(19-21)cagfs	p.Q7fs	ZNF277_ENST00000450657.1_Frame_Shift_Del_p.Q7fs|ZNF277_ENST00000421043.1_Frame_Shift_Del_p.Q7fs|DOCK4_ENST00000428084.1_5'Flank|DOCK4_ENST00000476846.1_5'Flank|DOCK4_ENST00000437633.1_5'Flank	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	7					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCAAGACCCAGGGGGCTGTCG	0.652																																																	0													30.0	33.0	32.0					7																	111846792		2203	4300	6503	SO:0001589	frameshift_variant	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.21delG	7.37:g.111846792delG	ENSP00000354501:p.Gln7fs		Q75MZ2|Q75MZ3|Q8WY14	Frame_Shift_Del	DEL	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A9fs	ENST00000361822.3	37	c.21	CCDS5755.2	7																																																																																			ZNF277	-	NULL		0.652	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	G	NM_021994		111846792	+1	no_errors	ENST00000361822	ensembl	human	known	70_37	frame_shift_del	DEL	0.920	-
ZNF595	152687	genome.wustl.edu	37	4	60294	60294	+	Nonstop_Mutation	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr4:60294T>C	ENST00000526473.2	+	4	450	c.277T>C	c.(277-279)Taa>Caa	p.*93Q	ZNF595_ENST00000339368.6_Intron|ZNF595_ENST00000509152.2_Intron			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TTATCGCTTATAATGGGCTGC	0.343																																																	0																																										SO:0001578	stop_lost	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000526473.2:c.277T>C	4.37:g.60294T>C	ENSP00000437878:p.*93Glnext*?			Nonstop_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.*93Q	ENST00000526473.2	37	c.277		4	.	.	.	.	.	.	.	.	.	.	T	2.376	-0.343224	0.05243	.	.	ENSG00000197701	ENST00000526473	.	.	.	0.835	-1.67	0.08238	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2251	0.10577	0.0:0.5012:0.0:0.4988	.	.	.	.	Q	93	.	.	X	+	1	0	ZNF595	50294	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.795000	0.26972	-0.723000	0.04915	-0.415000	0.06103	TAA	ZNF595	-	NULL		0.343	ZNF595-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF595	HGNC	protein_coding		T	NM_182524		60294	+1	no_errors	ENST00000526473	ensembl	human	known	70_37	nonstop	SNP	0.000	C
ZNF702P	79986	genome.wustl.edu	37	19	53473389	53473389	+	RNA	SNP	T	T	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr19:53473389T>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CAGTATGAATTGCCTTGTGAA	0.388																																																	0													75.0	65.0	68.0					19																	53473389		692	1591	2283			79986																															19.37:g.53473389T>C				RNA	SNP	-	NULL	ENST00000600068.1	37	NULL		19																																																																																			ZNF702P	-	-		0.388	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ZNF702P	HGNC	processed_transcript	OTTHUMT00000463881.1	T			53473389	-1	no_errors	ENST00000270443	ensembl	human	known	70_37	rna	SNP	0.155	C
ZRANB2	9406	genome.wustl.edu	37	1	71535038	71535038	+	Missense_Mutation	SNP	A	A	C			TCGA-HG-A2PA-01A-11D-A20U-09	TCGA-HG-A2PA-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c0459ab-a4c1-470b-9548-f3ee12a7d7aa	c8202693-7be4-42e2-92cc-0cb1899696e4	g.chr1:71535038A>C	ENST00000370920.3	-	8	992	c.691T>G	c.(691-693)Tca>Gca	p.S231A	MIR186_ENST00000384988.1_RNA|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000477096.1_5'Flank|ZRANB2_ENST00000254821.6_Missense_Mutation_p.S231A|ZRANB2-AS1_ENST00000426999.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	231	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAACTTCTTGAACGGGACCTG	0.413																																																	0													96.0	96.0	96.0					1																	71535038		2203	4300	6503	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.691T>G	1.37:g.71535038A>C	ENSP00000359958:p.Ser231Ala		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.S231A	ENST00000370920.3	37	c.691	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031551	0.54790	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.66099	-0.19;-0.17	5.6	4.41	0.53225	.	0.056549	0.64402	D	0.000001	T	0.29716	0.0742	L	0.32530	0.975	0.51482	D	0.999928	B;B	0.15473	0.003;0.013	B;B	0.20955	0.008;0.032	T	0.13442	-1.0509	10	0.11182	T	0.66	.	10.8648	0.46849	0.8591:0.0:0.0:0.1409	.	231;231	O95218;O95218-2	ZRAB2_HUMAN;.	A	231	ENSP00000359958:S231A;ENSP00000254821:S231A	ENSP00000254821:S231A	S	-	1	0	ZRANB2	71307626	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.444000	0.73452	2.132000	0.65825	0.377000	0.23210	TCA	ZRANB2	-	pirsf_UCP037956_Znf_RanB2		0.413	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	A	NM_203350		71535038	-1	no_errors	ENST00000370920	ensembl	human	known	70_37	missense	SNP	1.000	C
