#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_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
TTN	7273	genome.wustl.edu	37	2	179427807	179427807	+	Silent	SNP	C	C	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:179427807C>T	ENST00000591111.1	-	276	78353	c.78129G>A	c.(78127-78129)gtG>gtA	p.V26043V	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V27684V|TTN_ENST00000460472.2_Silent_p.V18619V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V18811V|TTN_ENST00000342992.6_Silent_p.V25116V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V18744V			Q8WZ42	TITIN_HUMAN	titin	26043	Ig-like 126.				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)			GCAGAACGACCACCTTTCTGA	0.483																																																	0								ENSG00000155657						187.0	183.0	185.0					2																	179427807		1952	4148	6100	TTN	SO:0001819	synonymous_variant	0			-	HGNC	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.78129G>A	2.37:g.179427807C>T		Somatic	0	57	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	20	62.96	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	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom	p.V25116	ENST00000591111.1	37	c.75348		2																																																																																			-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179427807	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	SNP	0.295	T
CALCR	799	genome.wustl.edu	37	7	93055785	93055785	+	Silent	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:93055785G>A	ENST00000394441.1	-	13	1623	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	CALCR_ENST00000426151.1_Silent_p.G436G|CALCR_ENST00000359558.2_Silent_p.G470G|CALCR_ENST00000360249.4_Silent_p.G452G|CALCR_ENST00000421592.1_Silent_p.G452G	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	470					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGGGATGTCGCCAGCCTCCG	0.572																																																	0								ENSG00000004948						110.0	109.0	109.0					7																	93055785		2203	4300	6503	CALCR	SO:0001819	synonymous_variant	0			-	HGNC	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1308C>T	7.37:g.93055785G>A		Somatic	0	35	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	25	47.92	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	NA	NA	NA	NA	NA	NA	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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.G470	ENST00000394441.1	37	c.1410	CCDS5631.1	7																																																																																			-	prints_GPCR_2_calcitonin_rcpt		0.572	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	G	NM_001742	-		93055785	-1	no_errors	ENST00000359558	ensembl	human	known	74_37	silent	SNP	0.000	A
SORCS2	57537	genome.wustl.edu	37	4	7640055	7640055	+	Splice_Site	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:7640055G>T	ENST00000507866.2	+	4	758	c.649G>T	c.(649-651)Gtc>Ttc	p.V217F	SORCS2_ENST00000329016.9_Splice_Site_p.V45F|SORCS2_ENST00000511199.1_3'UTR	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	217					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGTTTCAGGTCATCCTTGT	0.612																																																	0								ENSG00000184985						110.0	112.0	111.0					4																	7640055		2078	4210	6288	SORCS2	SO:0001630	splice_region_variant	0			-	HGNC	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.649-1G>T	4.37:g.7640055G>T		Somatic	0	48	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q9P2L7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.V217F	ENST00000507866.2	37	c.649	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912354	0.17907	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.35236	1.32;1.32	4.28	1.81	0.25067	VPS10 (1);	1.116690	0.06882	N	0.802791	T	0.29749	0.0743	L	0.43152	1.355	0.80722	D	1	B;B	0.15930	0.003;0.015	B;B	0.11329	0.004;0.006	T	0.05419	-1.0886	9	.	.	.	.	6.9107	0.24333	0.8048:0.0:0.1952:0.0	.	45;217	B5MED8;Q96PQ0	.;SORC2_HUMAN	F	217;45	ENSP00000422185:V217F;ENSP00000329124:V45F	.	V	+	1	0	SORCS2	7690955	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	3.538000	0.53597	0.088000	0.17205	-0.471000	0.05019	GTC	-	smart_VPS10		0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	protein_coding	OTTHUMT00000358685.4	G	NM_020777	-	Missense_Mutation	7640055	+1	no_errors	ENST00000507866	ensembl	human	known	74_37	missense	SNP	1.000	T
ESYT1	23344	genome.wustl.edu	37	12	56522182	56522182	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:56522182delC	ENST00000394048.5	+	1	343	c.79delC	c.(79-81)cccfs	p.P28fs	ESYT1_ENST00000541590.1_Frame_Shift_Del_p.P28fs|ESYT1_ENST00000267113.4_Frame_Shift_Del_p.P28fs|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	28					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CACTGACCAGCCCCCCGCTGC	0.697																																																	0								ENSG00000139641						37.0	40.0	39.0					12																	56522182		2200	4299	6499	ESYT1	SO:0001589	frameshift_variant	0				HGNC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.79delC	12.37:g.56522182delC	ENSP00000377612:p.Pro28fs	Somatic	0	80	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.A29fs	ENST00000394048.5	37	c.79	CCDS8904.1	12																																																																																			-	NULL		0.697	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	protein_coding	OTTHUMT00000407906.1	C	NM_015292			56522182	+1	no_errors	ENST00000267113	ensembl	human	known	74_37	frame_shift_del	DEL	0.130	-
ASXL2	55252	genome.wustl.edu	37	2	25966165	25966165	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:25966165G>A	ENST00000435504.4	-	13	3334	c.3041C>T	c.(3040-3042)cCa>cTa	p.P1014L	ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.P986L|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1014					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGTAGCTGGATGGGACTG	0.532																																																	0								ENSG00000143970						60.0	63.0	62.0					2																	25966165		1962	4166	6128	ASXL2	SO:0001583	missense	0			-	HGNC			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3041C>T	2.37:g.25966165G>A	ENSP00000391447:p.Pro1014Leu	Somatic	0	71	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	36	49.30	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Znf_FYVE_PHD	p.P1014L	ENST00000435504.4	37	c.3041		2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.057432	0.00390	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.16597	2.33;2.33	6.07	1.7	0.24286	.	0.492413	0.22881	N	0.054519	T	0.09113	0.0225	N	0.16656	0.425	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.23511	-1.0186	10	0.87932	D	0	-1.8346	4.9635	0.14078	0.3668:0.1543:0.4788:0.0	.	1014	Q76L83	ASXL2_HUMAN	L	1014;986	ENSP00000391447:P1014L;ENSP00000337250:P986L	ENSP00000337250:P986L	P	-	2	0	ASXL2	25819669	0.001000	0.12720	0.042000	0.18584	0.019000	0.09904	1.088000	0.30877	0.429000	0.26202	-0.176000	0.13171	CCA	-	NULL		0.532	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	protein_coding	OTTHUMT00000325593.3	G	NM_018263	-		25966165	-1	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	SNP	0.000	A
GAB4	128954	genome.wustl.edu	37	22	17447244	17447244	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr22:17447244G>A	ENST00000400588.1	-	6	1141	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	345										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCCCACAAGCGTTCTTCCTGG	0.517																																																	0								ENSG00000215568						24.0	26.0	26.0					22																	17447244		1979	4185	6164	GAB4	SO:0001583	missense	0			-	HGNC	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1034C>T	22.37:g.17447244G>A	ENSP00000383431:p.Thr345Met	Somatic	0	39	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	0	100.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T345M	ENST00000400588.1	37	c.1034	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	G	9.047	0.991016	0.18966	.	.	ENSG00000215568	ENST00000400588	T	0.17054	2.3	2.96	2.96	0.34315	.	0.664569	0.15254	N	0.272190	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	D	0.54047	0.964	B	0.34452	0.183	T	0.19516	-1.0303	10	0.46703	T	0.11	.	12.0813	0.53671	0.0:0.0:1.0:0.0	.	345	Q2WGN9	GAB4_HUMAN	M	345	ENSP00000383431:T345M	ENSP00000383431:T345M	T	-	2	0	GAB4	15827244	0.384000	0.25164	0.002000	0.10522	0.001000	0.01503	3.224000	0.51238	1.582000	0.49881	0.411000	0.27672	ACG	-	NULL		0.517	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	protein_coding	OTTHUMT00000315426.1	G	XM_372882	-		17447244	-1	no_errors	ENST00000400588	ensembl	human	known	74_37	missense	SNP	0.233	A
FNIP2	57600	genome.wustl.edu	37	4	159790439	159790439	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:159790439delA	ENST00000264433.6	+	13	2726	c.2651delA	c.(2650-2652)gaafs	p.E884fs	FNIP2_ENST00000379346.3_Frame_Shift_Del_p.E907fs	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	884	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCAGGACTGAAGGAGACATT	0.597																																																	0								ENSG00000052795						29.0	32.0	31.0					4																	159790439		2074	4208	6282	FNIP2	SO:0001589	frameshift_variant	0				HGNC	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2651delA	4.37:g.159790439delA	ENSP00000264433:p.Glu884fs	Somatic	0	48	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	Q05DC3|Q96I31|Q9H994	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.G908fs	ENST00000264433.6	37	c.2720	CCDS47155.1	4																																																																																			-	NULL		0.597	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	protein_coding	OTTHUMT00000366602.1	A	NM_020840			159790439	+1	no_errors	ENST00000379346	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
TPTE2P1	646405	genome.wustl.edu	37	13	25542555	25542559	+	RNA	DEL	CCCCT	CCCCT	-	rs368929722|rs372402245	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	CCCCT	CCCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr13:25542555_25542559delCCCCT	ENST00000429698.1	-	0	66_70							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		aatccccctacccctagggctgagg	0.556														917	0.183107	0.1536	0.1412	5008	,	,		18891	0.0823		0.2137	False		,,,				2504	0.3252																0								ENSG00000253771																																			TPTE2P1			0				HGNC			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25542555_25542559delCCCCT		Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KST4|B4DMH9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000429698.1	37	NULL		13																																																																																			-	-		0.556	TPTE2P1-003	KNOWN	basic	processed_transcript	TPTE2P1	pseudogene	OTTHUMT00000044206.1	CCCCT				25542559	-1	no_errors	ENST00000381871	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000	-
ACVR1	90	genome.wustl.edu	37	2	158634770	158634770	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:158634770G>T	ENST00000263640.3	-	5	845	c.416C>A	c.(415-417)gCc>gAc	p.A139D	ACVR1_ENST00000410057.2_Missense_Mutation_p.A139D|ACVR1_ENST00000409283.2_Missense_Mutation_p.A139D|ACVR1_ENST00000434821.1_Missense_Mutation_p.A139D|ACVR1_ENST00000487456.1_5'UTR	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	139					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAGCAGGCAGGCTAAAAGACA	0.498																																																	0								ENSG00000115170						103.0	103.0	103.0					2																	158634770		2203	4300	6503	ACVR1	SO:0001583	missense	0			-	HGNC		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.416C>A	2.37:g.158634770G>T	ENSP00000263640:p.Ala139Asp	Somatic	0	57	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.A139D	ENST00000263640.3	37	c.416	CCDS2206.1	2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785262	0.49997	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.95	3.91	0.45181	.	0.231983	0.44097	D	0.000489	T	0.70002	0.3174	N	0.08118	0	0.46416	D	0.999037	B	0.32101	0.356	B	0.32090	0.14	T	0.68454	-0.5404	10	0.51188	T	0.08	.	3.8773	0.09062	0.1904:0.2321:0.5775:0.0	.	139	Q04771	ACVR1_HUMAN	D	139	ENSP00000263640:A139D;ENSP00000387273:A139D;ENSP00000405004:A139D;ENSP00000387127:A139D	ENSP00000263640:A139D	A	-	2	0	ACVR1	158343016	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.957000	0.49137	2.825000	0.97269	0.655000	0.94253	GCC	-	NULL		0.498	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	protein_coding	OTTHUMT00000254927.1	G	NM_001105	-		158634770	-1	no_errors	ENST00000263640	ensembl	human	known	74_37	missense	SNP	0.980	T
DCLRE1A	9937	genome.wustl.edu	37	10	115608781	115608796	+	Frame_Shift_Del	DEL	CTCCTACATTAGATGA	CTCCTACATTAGATGA	-	rs539091187|rs550338406|rs571779693	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	CTCCTACATTAGATGA	CTCCTACATTAGATGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:115608781_115608796delCTCCTACATTAGATGA	ENST00000361384.2	-	2	2985_3000	c.2068_2083delTCATCTAATGTAGGAG	c.(2068-2085)tcatctaatgtaggaggafs	p.SSNVGG690fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.SSNVGG690fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	690					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTCTTGATCCTCCTACATTAGATGACTCTGGGATT	0.352								Other identified genes with known or suspected DNA repair function																																									0								ENSG00000198924																																			DCLRE1A	SO:0001589	frameshift_variant	0				HGNC		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2068_2083delTCATCTAATGTAGGAG	10.37:g.115608781_115608796delCTCCTACATTAGATGA	ENSP00000355185:p.Ser690fs	Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DRMBL	p.S690fs	ENST00000361384.2	37	c.2083_2068	CCDS7584.1	10																																																																																			-	NULL		0.352	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	protein_coding	OTTHUMT00000050444.1	CTCCTACATTAGATGA	NM_014881			115608796	-1	no_errors	ENST00000361384	ensembl	human	known	74_37	frame_shift_del	DEL	0.633:0.630:0.691:0.807:0.800:0.633:0.529:0.443:0.034:0.005:0.003:0.001:0.000:0.006:0.095:0.131	-
LYNX1	66004	genome.wustl.edu	37	8	143846466	143846466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr8:143846466delT	ENST00000335822.5	-	4	874	c.247delA	c.(247-249)accfs	p.T84fs	LYNX1_ENST00000317543.7_Frame_Shift_Del_p.T50fs|LYNX1_ENST00000523332.1_3'UTR|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	84	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTGGCAGTGGTGACACAGTGG	0.627																																																	0								ENSG00000180155						63.0	47.0	52.0					8																	143846466		2203	4300	6503	LYNX1	SO:0001589	frameshift_variant	0				HGNC	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.247delA	8.37:g.143846466delT	ENSP00000337950:p.Thr84fs	Somatic	0	49	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	D3DWI7|G3XAC2|Q86SR0	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_LY6_UPAR	p.T83fs	ENST00000335822.5	37	c.247	CCDS34951.1	8																																																																																			-	pfam_LY6_UPAR		0.627	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	protein_coding	OTTHUMT00000379786.3	T	NM_177476			143846466	-1	no_errors	ENST00000335822	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
KCNT1	57582	genome.wustl.edu	37	9	138662218	138662218	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:138662218G>A	ENST00000263604.3	+	17	1637	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H	KCNT1_ENST00000298480.5_Missense_Mutation_p.R565H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R565H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R546H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R520H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R526H|KCNT1_ENST00000490355.2_Missense_Mutation_p.R546H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R532H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	546	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TACCACATCCGCATGGGTGAC	0.652																																																	0								ENSG00000107147						104.0	81.0	89.0					9																	138662218		2203	4300	6503	KCNT1	SO:0001583	missense	0			-	HGNC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1637G>A	9.37:g.138662218G>A	ENSP00000263604:p.Arg546His	Somatic	0	53	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R565H	ENST00000263604.3	37	c.1694		9	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273568	0.59649	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.48	3.5	0.40072	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.57536	1.79	0.80722	D	1	P;D;P;B	0.55172	0.888;0.97;0.838;0.416	B;P;B;B	0.54372	0.363;0.75;0.248;0.189	T	0.36817	-0.9732	10	0.15066	T	0.55	-32.4157	12.2319	0.54492	0.0:0.0:0.8293:0.1707	.	532;565;520;546	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	520;565;565;526;532;546;546;546	ENSP00000417851:R520H;ENSP00000298480:R565H;ENSP00000360822:R565H;ENSP00000263604:R546H	ENSP00000263604:R546H	R	+	2	0	KCNT1	137802039	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.557000	0.60782	2.043000	0.60533	0.585000	0.79938	CGC	-	pfam_K_chnl_Ca-activ_BK_asu		0.652	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	protein_coding		G	NM_020822	-		138662218	+1	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	SNP	1.000	A
MSH3	4437	genome.wustl.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	CCCCCAGCT	CCCCCAGCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)												0								ENSG00000113318		,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				MSH3	SO:0001651	inframe_deletion	0				HGNC	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del	Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.PAP67in_frame_del	ENST00000265081.6	37	c.196_204	CCDS34195.1	5																																																																																			-	NULL		0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	protein_coding	OTTHUMT00000369471.1	CCCCCAGCT	NM_002439			79950750	+1	no_errors	ENST00000265081	ensembl	human	known	74_37	in_frame_del	DEL	0.890:0.802:0.715:0.628:0.541:0.455:0.369:0.282:0.196	-
ZNF592	9640	genome.wustl.edu	37	15	85327731	85327731	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr15:85327731C>T	ENST00000560079.2	+	4	2113	c.1825C>T	c.(1825-1827)Cgg>Tgg	p.R609W	ZNF592_ENST00000299927.3_Missense_Mutation_p.R609W	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	609					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTATGGCCGGCGGAGCGTCCA	0.602																																																	0								ENSG00000166716						101.0	94.0	96.0					15																	85327731		2203	4299	6502	ZNF592	SO:0001583	missense	0			-	HGNC	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1825C>T	15.37:g.85327731C>T	ENSP00000452877:p.Arg609Trp	Somatic	0	20	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	11	45.00	Q2M1T2|Q504Y9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R609W	ENST00000560079.2	37	c.1825	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960763	0.53400	.	.	ENSG00000166716	ENST00000299927	T	0.60920	0.15	5.36	4.41	0.53225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.051684	0.85682	D	0.000000	T	0.67021	0.2849	L	0.39397	1.21	0.50813	D	0.999892	D	0.89917	1.0	D	0.97110	1.0	T	0.68842	-0.5302	10	0.87932	D	0	-20.5984	13.3875	0.60803	0.157:0.843:0.0:0.0	.	609	Q92610	ZN592_HUMAN	W	609	ENSP00000299927:R609W	ENSP00000299927:R609W	R	+	1	2	ZNF592	83128735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.301000	0.33447	2.774000	0.95407	0.655000	0.94253	CGG	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	protein_coding	OTTHUMT00000418779.2	C	NM_014630	-		85327731	+1	no_errors	ENST00000299927	ensembl	human	known	74_37	missense	SNP	1.000	T
TOR4A	54863	genome.wustl.edu	37	9	140174330	140174330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:140174330C>T	ENST00000357503.2	+	2	1385	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	397					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										CCTGGCCGCGCAGCTCAGCTT	0.672																																																	0								ENSG00000198113						10.0	12.0	11.0					9																	140174330		2178	4284	6462	TOR4A	SO:0001587	stop_gained	0			-	HGNC	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.1189C>T	9.37:g.140174330C>T	ENSP00000350102:p.Gln397*	Somatic	0	17	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A2BFA4	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q397*	ENST00000357503.2	37	c.1189	CCDS7041.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.845381	0.97016	.	.	ENSG00000198113	ENST00000357503	.	.	.	4.68	4.68	0.58851	.	0.058003	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-1.4681	16.1331	0.81458	0.0:1.0:0.0:0.0	.	.	.	.	X	397	.	ENSP00000350102:Q397X	Q	+	1	0	C9orf167	139294151	1.000000	0.71417	0.920000	0.36463	0.289000	0.27227	3.849000	0.55910	2.101000	0.63845	0.561000	0.74099	CAG	-	NULL		0.672	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	protein_coding	OTTHUMT00000254711.1	C	NM_017723	-		140174330	+1	no_errors	ENST00000357503	ensembl	human	known	74_37	nonsense	SNP	0.994	T
SLC35A5	55032	genome.wustl.edu	37	3	112300122	112300122	+	Silent	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:112300122G>A	ENST00000492406.1	+	6	1441	c.1158G>A	c.(1156-1158)agG>agA	p.R386R	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	386					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						ACGCACCTAGGCAAGAAAGGA	0.453																																																	0								ENSG00000138459						46.0	51.0	49.0					3																	112300122		2188	4251	6439	SLC35A5	SO:0001819	synonymous_variant	0			-	HGNC	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1158G>A	3.37:g.112300122G>A		Somatic	0	48	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	27	42.55	D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nuc_sug_transpt,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom	p.G229D	ENST00000492406.1	37	c.686	CCDS2967.1	3																																																																																			-	NULL		0.453	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35A5	protein_coding	OTTHUMT00000354184.1	G	NM_017945	-		112300122	+1	no_errors	ENST00000261034	ensembl	human	known	74_37	missense	SNP	0.792	A
VPS13A	23230	genome.wustl.edu	37	9	79891096	79891096	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:79891096C>A	ENST00000360280.3	+	26	3043	c.2783C>A	c.(2782-2784)gCc>gAc	p.A928D	VPS13A_ENST00000376636.3_Missense_Mutation_p.A928D|VPS13A_ENST00000376634.4_Missense_Mutation_p.A928D|VPS13A_ENST00000357409.5_Missense_Mutation_p.A928D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	928					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAGCAAATGCCTTTTTGAAA	0.318																																																	0								ENSG00000197969						88.0	89.0	88.0					9																	79891096		2203	4300	6503	VPS13A	SO:0001583	missense	0			-	HGNC	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2783C>A	9.37:g.79891096C>A	ENSP00000353422:p.Ala928Asp	Somatic	0	193	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	87	108	44.62	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A928D	ENST00000360280.3	37	c.2783	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073424	0.76415	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.04	5.13	0.70059	.	0.172300	0.51477	D	0.000087	T	0.37919	0.1021	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.76494	0.991;0.99;0.999;0.999	D;P;D;D	0.70016	0.937;0.761;0.967;0.967	T	0.09707	-1.0662	10	0.35671	T	0.21	.	9.5906	0.39543	0.0:0.7817:0.1438:0.0746	.	928;928;928;928	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	D	928	ENSP00000365821:A928D;ENSP00000365823:A928D;ENSP00000353422:A928D;ENSP00000349985:A928D	ENSP00000349985:A928D	A	+	2	0	VPS13A	79080916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.579000	0.46059	1.528000	0.49103	0.563000	0.77884	GCC	-	NULL		0.318	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	protein_coding	OTTHUMT00000052753.2	C	NM_015186	-		79891096	+1	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	SNP	1.000	A
DUSP13	51207	genome.wustl.edu	37	10	76865463	76865463	+	Missense_Mutation	SNP	C	C	T	rs373934068		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:76865463C>T	ENST00000491677.2	-	3	585	c.43G>A	c.(43-45)Gct>Act	p.A15T	DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_Silent_p.R177R	NM_001007271.1	NP_001007272.1	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	0					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCTGGTCCAGCCTGCAGAGCT	0.677																																					NSCLC(174;1655 2059 12324 40663 42963)												0								ENSG00000079393	C	,,	0,4060		0,0,2030	9.0	13.0	12.0		531,,	3.9	1.0	10		12	1,8311		0,1,4155	no	coding-synonymous,intron,intron	DUSP13	NM_001007271.1,NM_001007272.1,NM_001007273.1	,,	0,1,6185	TT,TC,CC		0.012,0.0,0.0081	,,	177/189,,	76865463	1,12371	2030	4156	6186	DUSP13	SO:0001583	missense	0			-	HGNC	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000491677.2:c.43G>A	10.37:g.76865463C>T	ENSP00000436312:p.Ala15Thr	Somatic	0	48	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	20	48.72	A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.A15T	ENST00000491677.2	37	c.43		10	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209533	0.58343	0.0	1.2E-4	ENSG00000079393	ENST00000491677	T	0.06218	3.33	4.81	3.9	0.45041	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02646	-1.1129	6	0.87932	D	0	.	4.2963	0.10902	0.1822:0.632:0.0:0.1858	.	.	.	.	T	15	ENSP00000436312:A15T	ENSP00000436312:A15T	A	-	1	0	DUSP13	76535469	0.001000	0.12720	1.000000	0.80357	0.957000	0.61999	-0.114000	0.10757	1.232000	0.43678	0.462000	0.41574	GCT	-	NULL		0.677	DUSP13-201	KNOWN	basic|appris_candidate_longest	protein_coding	DUSP13	protein_coding		C		-		76865463	-1	no_errors	ENST00000491677	ensembl	human	known	74_37	missense	SNP	0.998	T
CNGA3	1261	genome.wustl.edu	37	2	99012444	99012444	+	Missense_Mutation	SNP	C	C	A	rs149802213	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:99012444C>A	ENST00000272602.2	+	7	850	c.811C>A	c.(811-813)Cca>Aca	p.P271T	CNGA3_ENST00000393504.1_Missense_Mutation_p.P271T|CNGA3_ENST00000436404.2_Missense_Mutation_p.P253T|CNGA3_ENST00000409937.1_Missense_Mutation_p.P275T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	271					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CACAAACTACCCAGAAGTGAG	0.517																																																	0								ENSG00000144191						94.0	85.0	88.0					2																	99012444		2203	4300	6503	CNGA3	SO:0001583	missense	0			-	HGNC	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.811C>A	2.37:g.99012444C>A	ENSP00000272602:p.Pro271Thr	Somatic	0	55	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P271T	ENST00000272602.2	37	c.811	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080271	0.76528	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55	5.42	5.42	0.78866	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.85542	2.76	0.80722	D	1	P;P;P	0.52577	0.621;0.616;0.954	P;P;P	0.57152	0.688;0.574;0.814	D	0.99136	1.0854	10	0.66056	D	0.02	.	18.154	0.89686	0.0:1.0:0.0:0.0	.	275;253;271	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	T	271;253;271;275	ENSP00000377140:P271T;ENSP00000410070:P253T;ENSP00000272602:P271T;ENSP00000386761:P275T	ENSP00000272602:P271T	P	+	1	0	CNGA3	98378876	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.320000	0.79064	2.826000	0.97356	0.563000	0.77884	CCA	-	pfam_Ion_trans_dom		0.517	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	C	NM_001298	-		99012444	+1	no_errors	ENST00000272602	ensembl	human	known	74_37	missense	SNP	1.000	A
DDI1	414301	genome.wustl.edu	37	11	103908420	103908420	+	Silent	SNP	T	T	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:103908420T>C	ENST00000302259.3	+	1	1113	c.870T>C	c.(868-870)gcT>gcC	p.A290A	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	290							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTGGGGTTGCTAAAGGAGTGG	0.502																																																	0								ENSG00000170967						112.0	104.0	107.0					11																	103908420		2202	4299	6501	DDI1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.870T>C	11.37:g.103908420T>C		Somatic	0	22	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	16	40.74	Q7Z4U6|Q8WTS3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.A290	ENST00000302259.3	37	c.870	CCDS31660.1	11																																																																																			-	pfam_Peptidase_aspartic_DDI1-type,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom		0.502	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	protein_coding	OTTHUMT00000387326.1	T	NM_001001711	-		103908420	+1	no_errors	ENST00000302259	ensembl	human	known	74_37	silent	SNP	0.928	C
KIF21A	55605	genome.wustl.edu	37	12	39727019	39727019	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:39727019C>T	ENST00000361418.5	-	18	2497	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K	KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.E815K|KIF21A_ENST00000395670.3_Missense_Mutation_p.E828K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E815K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	828					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTACCTCTTCAGTTTTGCGA	0.348																																																	0								ENSG00000139116						243.0	241.0	242.0					12																	39727019		2203	4300	6503	KIF21A	SO:0001583	missense	0			-	HGNC	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2482G>A	12.37:g.39727019C>T	ENSP00000354878:p.Glu828Lys	Somatic	0	74	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	375	405	48.08	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.E828K	ENST00000361418.5	37	c.2482	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665753	0.88251	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.38	5.38	0.77491	.	0.000000	0.51477	D	0.000083	T	0.36331	0.0963	M	0.77486	2.375	0.80722	D	1	B;P;P;P	0.51057	0.287;0.658;0.461;0.941	B;B;B;P	0.51170	0.085;0.196;0.164;0.661	T	0.17048	-1.0382	10	0.54805	T	0.06	.	19.1305	0.93404	0.0:1.0:0.0:0.0	.	815;828;815;828	F5H219;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;KI21A_HUMAN;.;.	K	815;828;828;815;828	ENSP00000354851:E815K;ENSP00000379029:E828K;ENSP00000445606:E815K;ENSP00000354878:E828K	ENSP00000344501:E828K	E	-	1	0	KIF21A	38013286	1.000000	0.71417	0.955000	0.39395	0.945000	0.59286	7.138000	0.77305	2.531000	0.85337	0.557000	0.71058	GAA	-	NULL		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	protein_coding	OTTHUMT00000403581.1	C	NM_017641	-		39727019	-1	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	SNP	1.000	T
ITPR1	3708	genome.wustl.edu	37	3	4853082	4853082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:4853082delT	ENST00000443694.2	+	53	7361	c.7361delT	c.(7360-7362)cttfs	p.L2454fs	ITPR1_ENST00000456211.2_Frame_Shift_Del_p.L2406fs|ITPR1_ENST00000544951.1_Frame_Shift_Del_p.L432fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.L2421fs|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.L2454fs|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.L2454fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.L2421fs|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_5'Flank			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2469					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GTGGGCTATCTTTTCTTCAAG	0.428																																																	0								ENSG00000150995						141.0	141.0	141.0					3																	4853082		1965	4147	6112	ITPR1	SO:0001589	frameshift_variant	0				HGNC	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7361delT	3.37:g.4853082delT	ENSP00000401671:p.Leu2454fs	Somatic	0	92	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	59	41.00	E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F2455fs	ENST00000443694.2	37	c.7361	CCDS54551.1	3																																																																																			-	pfam_Ion_trans_dom		0.428	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	T	NM_002222			4853082	+1	no_errors	ENST00000302640	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TATATATATACACGTGTATATATATACACGTGTA	rs11276625|rs74710373	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:183520323_183520324insTATATATATACACGTGTATATATATACACGTGTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332																																																	0								ENSG00000216166																																			AC131160.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TATATATATACACGTGTATATATATACACGTGTA	3.37:g.183520323_183520324insTATATATATACACGTGTATATATATACACGTGTA		Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			-	-		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	protein_coding	OTTHUMT00000346507.2	-	NM_018023			183520324	-1	no_errors	ENST00000401347	ensembl	human	novel	74_37	rna	INS	0.000:0.000	TATATATATACACGTGTATATATATACACGTGTA
USP20	10868	genome.wustl.edu	37	9	132637674	132637674	+	Missense_Mutation	SNP	G	G	A	rs368117192		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:132637674G>A	ENST00000315480.4	+	20	2292	c.2134G>A	c.(2134-2136)Gtg>Atg	p.V712M	USP20_ENST00000372429.3_Missense_Mutation_p.V712M|USP20_ENST00000358355.1_Missense_Mutation_p.V712M			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	712	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCGGTTCTACGTGTCCCGCGA	0.667																																																	0								ENSG00000136878	G	MET/VAL,MET/VAL,MET/VAL	2,4138		0,2,2068	38.0	47.0	44.0		2134,2134,2134	4.3	1.0	9		44	0,8418		0,0,4209	no	missense,missense,missense	USP20	NM_001008563.3,NM_001110303.2,NM_006676.6	21,21,21	0,2,6277	AA,AG,GG		0.0,0.0483,0.0159	possibly-damaging,possibly-damaging,possibly-damaging	712/915,712/915,712/915	132637674	2,12556	2070	4209	6279	USP20	SO:0001583	missense	0			-	HGNC	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2134G>A	9.37:g.132637674G>A	ENSP00000313811:p.Val712Met	Somatic	0	69	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	22	50.00	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.V712M	ENST00000315480.4	37	c.2134	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375539	0.61735	4.83E-4	0.0	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.23552	1.9;1.9;1.9	5.33	4.32	0.51571	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.268996	0.35378	N	0.003257	T	0.22399	0.0540	M	0.64170	1.965	0.47476	D	0.999433	P	0.43662	0.814	B	0.36719	0.231	T	0.04811	-1.0925	10	0.87932	D	0	.	6.6632	0.23027	0.2745:0.0:0.7255:0.0	.	712	Q9Y2K6	UBP20_HUMAN	M	712	ENSP00000361506:V712M;ENSP00000313811:V712M;ENSP00000351122:V712M	ENSP00000313811:V712M	V	+	1	0	USP20	131677495	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.114000	0.71560	2.495000	0.84180	0.561000	0.74099	GTG	-	smart_Pept_C19_DUSP		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	protein_coding	OTTHUMT00000054604.2	G		-		132637674	+1	no_errors	ENST00000315480	ensembl	human	known	74_37	missense	SNP	1.000	A
MAGEC3	139081	genome.wustl.edu	37	X	140983153	140983153	+	Silent	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chrX:140983153G>A	ENST00000298296.1	+	5	1008	c.1008G>A	c.(1006-1008)agG>agA	p.R336R	MAGEC3_ENST00000409007.1_5'Flank|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Silent_p.R88R|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_5'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	336	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACTCAGGTCAGCAGAGG	0.577																																																	0								ENSG00000165509						122.0	107.0	112.0					X																	140983153		2202	4300	6502	MAGEC3	SO:0001819	synonymous_variant	0			-	HGNC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1008G>A	X.37:g.140983153G>A		Somatic	0	84	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	32	52.24	Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MAGE,pfscan_MAGE	p.R336	ENST00000298296.1	37	c.1008	CCDS14676.1	X																																																																																			-	NULL		0.577	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	protein_coding	OTTHUMT00000058606.1	G	NM_138702	-		140983153	+1	no_errors	ENST00000298296	ensembl	human	known	74_37	silent	SNP	0.006	A
NAPA	8775	genome.wustl.edu	37	19	48003950	48003950	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:48003950G>T	ENST00000263354.3	-	3	534	c.235C>A	c.(235-237)Cac>Aac	p.H79N	NAPA_ENST00000593785.1_5'UTR|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Intron	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	79					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTGCGTCGTGCTTGCTCTGG	0.642																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						65.0	52.0	56.0					19																	48003950		2203	4300	6503	NAPA	SO:0001583	missense	0			-	HGNC	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.235C>A	19.37:g.48003950G>T	ENSP00000263354:p.His79Asn	Somatic	0	33	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	prints_NSF_attach	p.H79N	ENST00000263354.3	37	c.235	CCDS12702.1	19	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793623	0.70452	.	.	ENSG00000105402	ENST00000263354	T	0.29655	1.56	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.69463	2.115	0.80722	D	1	D	0.60160	0.987	D	0.65684	0.937	T	0.57093	-0.7870	10	0.72032	D	0.01	-21.9661	16.4832	0.84163	0.0:0.0:1.0:0.0	.	79	P54920	SNAA_HUMAN	N	79	ENSP00000263354:H79N	ENSP00000263354:H79N	H	-	1	0	NAPA	52695762	1.000000	0.71417	0.985000	0.45067	0.361000	0.29550	9.259000	0.95561	2.399000	0.81585	0.462000	0.41574	CAC	-	NULL		0.642	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		48003950	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	missense	SNP	1.000	T
ENPP5	59084	genome.wustl.edu	37	6	46135503	46135503	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr6:46135503C>G	ENST00000371383.2	-	3	757	c.497G>C	c.(496-498)aGa>aCa	p.R166T	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.R166T					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTTGGCAACTCTATCTTCAAA	0.423																																																	0								ENSG00000112796						99.0	110.0	106.0					6																	46135503		2203	4300	6503	ENPP5	SO:0001583	missense	0			-	HGNC	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.497G>C	6.37:g.46135503C>G	ENSP00000360436:p.Arg166Thr	Somatic	0	32	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R166T	ENST00000371383.2	37	c.497	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497789	0.85069	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.74421	-0.84;-0.84	5.33	5.33	0.75918	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	H	0.96889	3.9	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93347	0.6715	10	0.87932	D	0	-23.681	19.4129	0.94683	0.0:1.0:0.0:0.0	.	166;166	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	T	166	ENSP00000360436:R166T;ENSP00000230565:R166T	ENSP00000230565:R166T	R	-	2	0	ENPP5	46243462	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.409000	0.80053	2.652000	0.90054	0.655000	0.94253	AGA	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.423	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	protein_coding	OTTHUMT00000040779.2	C		-		46135503	-1	no_errors	ENST00000230565	ensembl	human	known	74_37	missense	SNP	1.000	G
PXN	5829	genome.wustl.edu	37	12	120653747	120653747	+	Intron	DEL	G	G	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:120653747delG	ENST00000228307.7	-	7	973				PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000397506.3_Frame_Shift_Del_p.Q37fs|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000538144.1_Intron|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin						activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCTGGGCCTGGGGGCTGGAA	0.627																																																	0								ENSG00000089159						21.0	23.0	23.0					12																	120653747		875	1990	2865	PXN	SO:0001627	intron_variant	0				HGNC	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.832-283C>-	12.37:g.120653747delG		Somatic	0	48	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q37fs	ENST00000228307.7	37	c.109	CCDS44997.1	12																																																																																			-	NULL		0.627	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	protein_coding	OTTHUMT00000402679.4	G	NM_002859			120653747	-1	no_errors	ENST00000397506	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
PGS1	9489	genome.wustl.edu	37	17	76374748	76374749	+	Start_Codon_Ins	INS	-	-	GGCGGTGGC			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:76374748_76374749insGGCGGTGGC	ENST00000262764.6	+	0	28_29				PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CGAGTCTCCATGGCGGTGGCGG	0.738																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000087157																																			PGS1	SO:0001582	initiator_codon_variant	0				HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.3_11dupGGCGGTGGC	17.37:g.76374749_76374757dupGGCGGTGGC		Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.5in_frame_insAVA	ENST00000262764.6	37	c.2_3	CCDS42391.1	17																																																																																			-	NULL		0.738	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	protein_coding	OTTHUMT00000437301.1	-	NM_024419			76374749	+1	no_errors	ENST00000262764	ensembl	human	known	74_37	in_frame_ins	INS	1.000:1.000	GGCGGTGGC
HPGD	3248	genome.wustl.edu	37	4	175429244	175429244	+	Intron	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:175429244G>A	ENST00000296522.6	-	4	868				HPGD_ENST00000504433.1_Missense_Mutation_p.A171V|HPGD_ENST00000422112.2_Intron|HPGD_ENST00000296521.7_Intron|HPGD_ENST00000510901.1_Intron|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000541923.1_Intron	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)						arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|ductus arteriosus closure (GO:0097070)|female pregnancy (GO:0007565)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|ovulation (GO:0030728)|parturition (GO:0007567)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|thrombin receptor signaling pathway (GO:0070493)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|catalytic activity (GO:0003824)|NAD binding (GO:0051287)|NAD+ binding (GO:0070403)|prostaglandin E receptor activity (GO:0004957)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)		aaggaatccagcagttctaaa	0.483																																																	0								ENSG00000164120																																			HPGD	SO:0001627	intron_variant	0			-	HGNC		CCDS3821.1, CCDS54821.1, CCDS58933.1, CCDS58934.1, CCDS58935.1	4q34-q35	2011-09-14			ENSG00000164120	ENSG00000164120	1.1.1.141	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	5154	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 36C, member 1"""	601688				19027726	Standard	NM_000860		Approved	SDR36C1	uc003itu.3	P15428	OTTHUMG00000160772	ENST00000296522.6:c.421+602C>T	4.37:g.175429244G>A		Somatic	0	124	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	5	90.74	B4DTA4|B4DU74|B4DV57|D3DP43|E7EV11|O00749|Q06F08|Q12998	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR	p.A171V	ENST00000296522.6	37	c.512	CCDS3821.1	4	.	.	.	.	.	.	.	.	.	.	G	6.226	0.409904	0.11812	.	.	ENSG00000164120	ENST00000504433	T	0.74002	-0.8	3.57	-0.389	0.12455	.	.	.	.	.	T	0.53481	0.1799	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34625	-0.9821	8	0.33940	T	0.23	.	1.1748	0.01833	0.1727:0.4397:0.1754:0.2122	.	171	E9PBZ2	.	V	171	ENSP00000420892:A171V	ENSP00000420892:A171V	A	-	2	0	HPGD	175665819	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.117000	0.10708	-0.110000	0.12022	-1.096000	0.02151	GCT	-	NULL		0.483	HPGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGD	protein_coding	OTTHUMT00000362228.3	G		-		175429244	-1	no_errors	ENST00000504433	ensembl	human	putative	74_37	missense	SNP	0.000	A
C6	729	genome.wustl.edu	37	5	41195968	41195968	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr5:41195968C>G	ENST00000263413.3	-	5	777	c.513G>C	c.(511-513)agG>agC	p.R171S	C6_ENST00000337836.5_Missense_Mutation_p.R171S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	171	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCCACAGTCCCTTTCATCTG	0.423																																																	0								ENSG00000039537						251.0	221.0	231.0					5																	41195968		2203	4300	6503	C6	SO:0001583	missense	0			-	HGNC	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.513G>C	5.37:g.41195968C>G	ENSP00000263413:p.Arg171Ser	Somatic	0	78	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	41	46.75		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.R171S	ENST00000263413.3	37	c.513	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227587	0.58668	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.95238	-3.65;-3.65	5.65	3.86	0.44501	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.080957	0.85682	D	0.000000	D	0.94272	0.8160	L	0.41236	1.265	0.43207	D	0.995061	D	0.62365	0.991	D	0.63957	0.92	D	0.92148	0.5726	10	0.38643	T	0.18	-11.8919	9.6617	0.39958	0.0:0.7708:0.0:0.2292	.	171	P13671	CO6_HUMAN	S	171	ENSP00000338861:R171S;ENSP00000263413:R171S	ENSP00000263413:R171S	R	-	3	2	C6	41231725	0.352000	0.24895	0.648000	0.29521	0.828000	0.46876	0.809000	0.27168	0.729000	0.32403	-0.142000	0.14014	AGG	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.423	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	protein_coding	OTTHUMT00000211592.1	C		-		41195968	-1	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	SNP	0.622	G
COL5A3	50509	genome.wustl.edu	37	19	10089586	10089586	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:10089586T>C	ENST00000264828.3	-	40	3030	c.2945A>G	c.(2944-2946)aAa>aGa	p.K982R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	982	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGGCCCCCTTTGGGGCCGGG	0.617																																																	0								ENSG00000080573						11.0	13.0	13.0					19																	10089586		2195	4288	6483	COL5A3	SO:0001583	missense	0			-	HGNC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2945A>G	19.37:g.10089586T>C	ENSP00000264828:p.Lys982Arg	Somatic	0	83	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	45	50.00	Q9NZQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K982R	ENST00000264828.3	37	c.2945	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	t	0.011	-1.697069	0.00725	.	.	ENSG00000080573	ENST00000264828	D	0.94232	-3.38	4.58	2.14	0.27477	.	0.339243	0.26578	U	0.023588	T	0.78065	0.4225	N	0.05574	-0.02	0.22253	N	0.999251	B	0.02656	0.0	B	0.04013	0.001	T	0.64373	-0.6423	10	0.02654	T	1	.	2.3218	0.04212	0.0:0.2676:0.2943:0.4381	.	982	P25940	CO5A3_HUMAN	R	982	ENSP00000264828:K982R	ENSP00000264828:K982R	K	-	2	0	COL5A3	9950586	0.694000	0.27738	0.455000	0.27031	0.020000	0.10135	2.453000	0.44970	0.569000	0.29329	0.370000	0.22315	AAA	-	NULL		0.617	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	T	NM_015719	-		10089586	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.906	C
TTC17	55761	genome.wustl.edu	37	11	43513714	43513714	+	Splice_Site	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:43513714G>T	ENST00000039989.4	+	23	3308		c.e23+1			NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17						actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGTGGCAATGGTGAGATGGGG	0.483																																																	0								ENSG00000052841						188.0	145.0	159.0					11																	43513714		2203	4300	6503	TTC17	SO:0001630	splice_region_variant	0			-	HGNC	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3294+1G>T	11.37:g.43513714G>T		Somatic	0	32	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	G3XAB3|Q8NEC0	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e23+1	ENST00000039989.4	37	c.3294+1	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464934	0.43839	.	.	ENSG00000052841	ENST00000039989;ENST00000418561	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8183	0.88642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC17	43470290	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.496000	0.97967	2.631000	0.89168	0.655000	0.94253	.	-	-		0.483	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	protein_coding	OTTHUMT00000389577.2	G	NM_018259	-	Intron	43513714	+1	no_errors	ENST00000039989	ensembl	human	known	74_37	splice_site	SNP	1.000	T
LRRC8B	23507	genome.wustl.edu	37	1	90050305	90050305	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:90050305A>C	ENST00000330947.2	+	5	2456	c.2096A>C	c.(2095-2097)cAg>cCg	p.Q699P	LRRC8B_ENST00000358200.4_Missense_Mutation_p.Q699P|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.Q699P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	699					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GAAGAAATCCAGTATCTGAGT	0.348																																																	0								ENSG00000197147						75.0	73.0	74.0					1																	90050305		2203	4300	6503	LRRC8B	SO:0001583	missense	0			-	HGNC	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2096A>C	1.37:g.90050305A>C	ENSP00000332674:p.Gln699Pro	Somatic	0	13	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q699P	ENST00000330947.2	37	c.2096	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657937	0.47467	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.58940	0.3;0.3;0.3	5.39	5.39	0.77823	.	0.182760	0.38720	N	0.001587	T	0.33118	0.0852	L	0.28192	0.835	0.39360	D	0.965903	D	0.55385	0.971	P	0.46026	0.501	T	0.19778	-1.0295	9	.	.	.	.	10.4578	0.44561	0.9171:0.0:0.0829:0.0	.	699	Q6P9F7	LRC8B_HUMAN	P	699	ENSP00000332674:Q699P;ENSP00000350933:Q699P;ENSP00000400704:Q699P	.	Q	+	2	0	LRRC8B	89822893	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.333000	0.59285	2.165000	0.68154	0.459000	0.35465	CAG	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.348	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	protein_coding	OTTHUMT00000028008.1	A	NM_015350	-		90050305	+1	no_errors	ENST00000330947	ensembl	human	known	74_37	missense	SNP	1.000	C
NTM	50863	genome.wustl.edu	37	11	132205623	132205624	+	3'UTR	INS	-	-	T	rs111313978		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:132205623_132205624insT	ENST00000374786.1	+	0	2097_2098				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TACCGTTAAACTTTTTTTTTTT	0.292																																																	0								ENSG00000182667																																			NTM	SO:0001624	3_prime_UTR_variant	0				HGNC	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*584->T	11.37:g.132205634_132205634dupT		Somatic	0	35	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A0MTT2|Q6UXJ3|Q86VJ9	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			-	-		0.292	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	protein_coding	OTTHUMT00000141937.1	-	NM_016522			132205624	+1	no_errors	ENST00000474900	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
XKR8	55113	genome.wustl.edu	37	1	28293381	28293381	+	Silent	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:28293381C>A	ENST00000373884.5	+	3	1466	c.858C>A	c.(856-858)atC>atA	p.I286I		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	286					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCCGGGCCATCATCCACTTCG	0.642																																																	0								ENSG00000158156						33.0	33.0	33.0					1																	28293381		2203	4299	6502	XKR8	SO:0001819	synonymous_variant	0			-	HGNC	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.858C>A	1.37:g.28293381C>A		Somatic	0	55	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	24	53.85		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Transport_prot_XK	p.I286	ENST00000373884.5	37	c.858	CCDS315.1	1																																																																																			-	pfam_Transport_prot_XK		0.642	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	protein_coding	OTTHUMT00000011175.1	C	NM_018053	-		28293381	+1	no_errors	ENST00000373884	ensembl	human	known	74_37	silent	SNP	0.999	A
NUTM2B	729262	genome.wustl.edu	37	10	81471859	81471859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:81471859C>A	ENST00000429828.1	+	7	2638	c.2255C>A	c.(2254-2256)tCa>tAa	p.S752*	RP11-119F19.2_ENST00000601369.1_RNA|NUTM2B_ENST00000372321.1_Intron|RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000448135.1_Intron	NM_001278495.1	NP_001265424.1	A6NNL0	NTM2B_HUMAN	NUT family member 2B	752																	GCTCAGGGGTCAAGTGAGGAG	0.647																																																	0								ENSG00000188199																																			NUTM2B	SO:0001587	stop_gained	0			-	HGNC		CCDS60574.1	10q22.3	2014-08-13	2013-03-14	2013-03-14	ENSG00000188199	ENSG00000188199			23445	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member B"""	FAM22B			Standard	NM_001278495		Approved	bA119F19.1		A6NNL0	OTTHUMG00000018572	ENST00000429828.1:c.2255C>A	10.37:g.81471859C>A	ENSP00000394623:p.Ser752*	Somatic	0	142	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	112	16.42	A6NM73	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S752*	ENST00000429828.1	37	c.2255		10	.	.	.	.	.	.	.	.	.	.	c	16.22	3.062601	0.55432	.	.	ENSG00000188199	ENST00000429828;ENST00000342531	.	.	.	1.33	0.306	0.15806	.	2.683430	0.00819	N	0.001574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	5.2918	0.15731	0.0:0.6318:0.3682:0.0	.	.	.	.	X	752;495	.	ENSP00000344811:S495X	S	+	2	0	FAM22B	81141865	0.000000	0.05858	0.005000	0.12908	0.141000	0.21300	-0.517000	0.06275	0.123000	0.18342	0.064000	0.15345	TCA	-	NULL		0.647	NUTM2B-201	KNOWN	basic|appris_principal	protein_coding	NUTM2B	protein_coding		C	NG_012780	-		81471859	+1	no_errors	ENST00000429828	ensembl	human	known	74_37	nonsense	SNP	0.006	A
HR	55806	genome.wustl.edu	37	8	21977962	21977965	+	Frame_Shift_Del	DEL	GCTT	GCTT	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	GCTT	GCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr8:21977962_21977965delGCTT	ENST00000381418.4	-	12	4146_4149	c.2666_2669delAAGC	c.(2665-2670)gaagctfs	p.EA889fs	HR_ENST00000312841.8_Frame_Shift_Del_p.EA889fs	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	889					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGCCCCAAGAGCTTCTGTCCCCCA	0.632																																																	0								ENSG00000168453																																			HR	SO:0001589	frameshift_variant	0				HGNC	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2666_2669delAAGC	8.37:g.21977962_21977965delGCTT	ENSP00000370826:p.Glu889fs	Somatic	0	38	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	Q6GS30|Q96H33|Q9NPE1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E889fs	ENST00000381418.4	37	c.2669_2666	CCDS6022.1	8																																																																																			-	NULL		0.632	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	protein_coding	OTTHUMT00000214213.1	GCTT				21977965	-1	no_errors	ENST00000381418	ensembl	human	known	74_37	frame_shift_del	DEL	0.757:0.809:0.811:0.884	-
MUC16	94025	genome.wustl.edu	37	19	9064310	9064310	+	Frame_Shift_Del	DEL	G	G	-	rs558504850	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:9064310delG	ENST00000397910.4	-	3	23339	c.23136delC	c.(23134-23136)cccfs	p.P7712fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7714	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGGGGAGAGGGGGGGATAT	0.532																																																	0								ENSG00000181143						95.0	96.0	96.0					19																	9064310		2026	4175	6201	MUC16	SO:0001589	frameshift_variant	0				HGNC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23136delC	19.37:g.9064310delG	ENSP00000381008:p.Pro7712fs	Somatic	0	26	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S7713fs	ENST00000397910.4	37	c.23136	CCDS54212.1	19																																																																																			-	NULL		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690			9064310	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
ZBTB7A	51341	genome.wustl.edu	37	19	4048115	4048115	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr19:4048115G>A	ENST00000322357.4	-	3	1668	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R464C	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	464					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTAGGGGCGCAGGCCCGTG	0.657																																																	0								ENSG00000178951						67.0	61.0	63.0					19																	4048115		2203	4300	6503	ZBTB7A	SO:0001583	missense	0			-	HGNC	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1390C>T	19.37:g.4048115G>A	ENSP00000323670:p.Arg464Cys	Somatic	0	70	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R464C	ENST00000322357.4	37	c.1390	CCDS12119.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979621	0.74360	.	.	ENSG00000178951	ENST00000322357	T	0.20463	2.07	4.0	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000002	T	0.47432	0.1445	M	0.80982	2.52	0.54753	D	0.999988	D	0.89917	1.0	D	0.79784	0.993	T	0.55075	-0.8197	10	0.87932	D	0	.	13.6099	0.62071	0.0:0.0:1.0:0.0	.	464	O95365	ZBT7A_HUMAN	C	464	ENSP00000323670:R464C	ENSP00000323670:R464C	R	-	1	0	ZBTB7A	3999115	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.328000	0.65887	1.785000	0.52413	0.549000	0.68633	CGC	-	pfscan_Znf_C2H2		0.657	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	protein_coding	OTTHUMT00000457621.2	G	NM_015898	-		4048115	-1	no_errors	ENST00000322357	ensembl	human	known	74_37	missense	SNP	1.000	A
DDB2	1643	genome.wustl.edu	37	11	47236754	47236754	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:47236754A>G	ENST00000256996.4	+	1	262	c.67A>G	c.(67-69)Agg>Ggg	p.R23G	DDB2_ENST00000378601.3_Missense_Mutation_p.R23G|DDB2_ENST00000378600.3_Missense_Mutation_p.R23G|DDB2_ENST00000378603.3_Missense_Mutation_p.R23G	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	23					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CAGGAACAAGAGGAGCAGGAG	0.572			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0								ENSG00000134574						136.0	148.0	144.0					11																	47236754		2201	4298	6499	DDB2	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	-	HGNC		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.67A>G	11.37:g.47236754A>G	ENSP00000256996:p.Arg23Gly	Somatic	0	54	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	29	47.27	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R23G	ENST00000256996.4	37	c.67	CCDS7927.1	11	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907287	0.52333	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600;ENST00000378601	T;T;T;T	0.79749	-0.85;-0.47;-1.3;0.59	3.76	2.59	0.31030	.	0.288817	0.35772	N	0.002986	T	0.66458	0.2791	L	0.36672	1.1	0.28593	N	0.909547	B;P;B	0.36909	0.253;0.573;0.164	B;B;B	0.33521	0.06;0.165;0.027	T	0.58188	-0.7680	10	0.30854	T	0.27	-16.4641	7.0857	0.25255	0.7685:0.2315:0.0:0.0	.	23;23;23	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	G	23	ENSP00000256996:R23G;ENSP00000367866:R23G;ENSP00000367863:R23G;ENSP00000367864:R23G	ENSP00000256996:R23G	R	+	1	2	DDB2	47193330	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	2.041000	0.41213	0.763000	0.33175	0.533000	0.62120	AGG	-	NULL		0.572	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	protein_coding		A	NM_000107	-		47236754	+1	no_errors	ENST00000256996	ensembl	human	known	74_37	missense	SNP	0.979	G
DDHD1	80821	genome.wustl.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0								ENSG00000100523																																			DDHD1	SO:0001652	inframe_insertion	0				HGNC	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup	Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_DDHD,pfscan_DDHD	p.112in_frame_insGG	ENST00000323669.5	37	c.337_336	CCDS53895.1	14																																																																																			-	NULL		0.703	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	protein_coding	OTTHUMT00000276901.1	-				53619481	-1	no_errors	ENST00000323669	ensembl	human	known	74_37	in_frame_ins	INS	0.234:0.997	GCCGCC
PRPF3	9129	genome.wustl.edu	37	1	150315720	150315728	+	Intron	DEL	AAAAAATAT	AAAAAATAT	-	rs374394798|rs587654594|rs200239014|rs56047090|rs140732761|rs149908445|rs58514816|rs56860451|rs66790680	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	AAAAAATAT	AAAAAATAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:150315720_150315728delAAAAAATAT	ENST00000324862.6	+	10	1447				PRPF3_ENST00000467329.1_Intron|PRPF3_ENST00000543398.1_Intron|PRPF3_ENST00000414970.2_Intron	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3						mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		agagaaaaaaaaaaaaTATATATATATAT	0.407																																					Ovarian(168;1070 2670 5178 20729)												0								ENSG00000117360																																			PRPF3	SO:0001627	intron_variant	0				HGNC	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1283-57AAAAAATAT>-	1.37:g.150315720_150315728delAAAAAATAT		Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DSY9|O43446|Q5VT54	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000324862.6	37	NULL	CCDS951.1	1																																																																																			-	-		0.407	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	protein_coding	OTTHUMT00000035836.1	AAAAAATAT	NM_004698			150315728	+1	no_errors	ENST00000493553	ensembl	human	known	74_37	rna	DEL	0.001:0.001:0.000:0.001:0.000:0.001:0.001:0.002:0.004	-
TMEM127	55654	genome.wustl.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																																	0								ENSG00000135956																																			TMEM127	SO:0001651	inframe_deletion	0				HGNC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del	Somatic	0	38	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	D3DXH0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.Q160in_frame_del	ENST00000258439.3	37	c.482_480	CCDS2018.1	2																																																																																			-	NULL		0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM127	protein_coding	OTTHUMT00000252845.3	TGC	NM_017849			96919783	-1	no_errors	ENST00000258439	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.977	-
SCNN1G	6340	genome.wustl.edu	37	16	23200982	23200982	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr16:23200982G>T	ENST00000300061.2	+	3	751	c.608G>T	c.(607-609)gGa>gTa	p.G203V		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	203					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAAGTGGTGGGATTCCAACTG	0.527																																																	0								ENSG00000166828						140.0	139.0	139.0					16																	23200982		2197	4300	6497	SCNN1G	SO:0001583	missense	0			-	HGNC	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.608G>T	16.37:g.23200982G>T	ENSP00000300061:p.Gly203Val	Somatic	0	45	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	23	47.73	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.G203V	ENST00000300061.2	37	c.608	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555235	0.65425	.	.	ENSG00000166828	ENST00000300061	T	0.76968	-1.06	5.75	5.75	0.90469	.	0.071824	0.56097	N	0.000021	D	0.89406	0.6706	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90530	0.4495	10	0.87932	D	0	-10.6745	17.1001	0.86647	0.0:0.0:1.0:0.0	.	203	P51170	SCNNG_HUMAN	V	203	ENSP00000300061:G203V	ENSP00000300061:G203V	G	+	2	0	SCNN1G	23108483	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	6.144000	0.71762	2.721000	0.93114	0.511000	0.50034	GGA	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.527	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	protein_coding	OTTHUMT00000254496.1	G	NM_001039	-		23200982	+1	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	SNP	1.000	T
ATXN7L1	222255	genome.wustl.edu	37	7	105254802	105254804	+	In_Frame_Del	DEL	GAG	GAG	-	rs150182467		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:105254802_105254804delGAG	ENST00000419735.3	-	10	2022_2024	c.1977_1979delCTC	c.(1975-1980)tcctct>tct	p.659_660SS>S	ATXN7L1_ENST00000388807.4_In_Frame_Del_p.319_320SS>S|ATXN7L1_ENST00000477775.1_In_Frame_Del_p.535_536SS>S	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	659	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CTGCAaggaagaggaggaggagg	0.517																																																	0								ENSG00000146776																																			ATXN7L1	SO:0001651	inframe_deletion	0				HGNC	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1977_1979delCTC	7.37:g.105254811_105254813delGAG	ENSP00000410759:p.Ser661del	Somatic	0	32	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	A4D0Q2|B4DTS1|Q8N2T0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SCA7_dom	p.S661in_frame_del	ENST00000419735.3	37	c.1979_1977	CCDS47682.1	7																																																																																			-	NULL		0.517	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	protein_coding	OTTHUMT00000349037.2	GAG				105254804	-1	no_errors	ENST00000419735	ensembl	human	known	74_37	in_frame_del	DEL	0.098:0.098:0.097	-
NUTM1	256646	genome.wustl.edu	37	15	34640626	34640626	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr15:34640626delT	ENST00000333756.4	+	2	628	c.473delT	c.(472-474)cttfs	p.L158fs	NUTM1_ENST00000537011.1_Frame_Shift_Del_p.L186fs|NUTM1_ENST00000438749.3_Frame_Shift_Del_p.L176fs	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	158	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTCCAGGCCTTCCGCCTCAG	0.592																																																	0								ENSG00000184507						50.0	43.0	45.0					15																	34640626		2201	4298	6499	NUTM1	SO:0001589	frameshift_variant	0				HGNC	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.473delT	15.37:g.34640626delT	ENSP00000329448:p.Leu158fs	Somatic	0	30	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.P159fs	ENST00000333756.4	37	c.473	CCDS32190.1	15																																																																																			-	NULL		0.592	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	protein_coding	OTTHUMT00000418026.1	T	NM_175741			34640626	+1	no_errors	ENST00000333756	ensembl	human	known	74_37	frame_shift_del	DEL	0.018	-
EXOSC8	11340	genome.wustl.edu	37	13	37580294	37580294	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr13:37580294delA	ENST00000389704.3	+	7	652	c.387delA	c.(385-387)ggafs	p.G129fs		NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	129					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TTTCTCCAGGAAAGGTAAGAG	0.323																																																	0								ENSG00000120699						51.0	52.0	52.0					13																	37580294		2197	4295	6492	EXOSC8	SO:0001589	frameshift_variant	0				HGNC	AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.387delA	13.37:g.37580294delA	ENSP00000374354:p.Gly129fs	Somatic	0	107	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	55	41.49	O43480|Q5TBA5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.K130fs	ENST00000389704.3	37	c.387	CCDS31958.1	13																																																																																			-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.323	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	protein_coding	OTTHUMT00000044535.2	A	NM_181503			37580294	+1	no_errors	ENST00000389704	ensembl	human	known	74_37	frame_shift_del	DEL	0.870	-
TMEM97	27346	genome.wustl.edu	37	17	26653806	26653807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:26653806_26653807insA	ENST00000226230.6	+	3	663_664	c.518_519insA	c.(517-522)agaaaafs	p.RK173fs	TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.RK66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.RK66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GAAGAGAAAAGAAAAAAAAAAT	0.441																																																	1	Deletion - Frameshift(1)	lung(1)						ENSG00000109084																																			TMEM97	SO:0001589	frameshift_variant	0				HGNC	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.528dupA	17.37:g.26653816_26653816dupA	ENSP00000226230:p.Arg173fs	Somatic	0	23	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	B4DS02|Q07823	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97	p.K177fs	ENST00000226230.6	37	c.518_519	CCDS11226.2	17																																																																																			-	NULL		0.441	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM97	protein_coding	OTTHUMT00000255675.2	-	NM_014573			26653807	+1	no_errors	ENST00000226230	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A
ESYT1	23344	genome.wustl.edu	37	12	56522184	56522184	+	Silent	SNP	C	C	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:56522184C>G	ENST00000394048.5	+	1	345	c.81C>G	c.(79-81)ccC>ccG	p.P27P	ESYT1_ENST00000541590.1_Silent_p.P27P|ESYT1_ENST00000267113.4_Silent_p.P27P|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	27					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACCAGCCCCCCGCTGCTC	0.697																																																	0								ENSG00000139641						38.0	41.0	40.0					12																	56522184		2200	4299	6499	ESYT1	SO:0001819	synonymous_variant	0			-	HGNC	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.81C>G	12.37:g.56522184C>G		Somatic	0	76	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	40	40.30	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.P27	ENST00000394048.5	37	c.81	CCDS8904.1	12																																																																																			-	NULL		0.697	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	protein_coding	OTTHUMT00000407906.1	C	NM_015292	-		56522184	+1	no_errors	ENST00000267113	ensembl	human	known	74_37	silent	SNP	0.807	G
FAM104A	84923	genome.wustl.edu	37	17	71205859	71205861	+	In_Frame_Del	DEL	TGC	TGC	-	rs141426163	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	TGC	TGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:71205859_71205861delTGC	ENST00000403627.3	-	3	428_430	c.368_370delGCA	c.(367-372)agcatc>atc	p.S123del	FAM104A_ENST00000583024.1_In_Frame_Del_p.A96del|FAM104A_ENST00000580032.1_In_Frame_Del_p.S33del|FAM104A_ENST00000405159.3_In_Frame_Del_p.S144del|FAM104A_ENST00000581110.1_In_Frame_Del_p.A90del|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	123	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGGCTATTGAtgctgctgctgct	0.596																																																	0								ENSG00000133193																																			FAM104A	SO:0001651	inframe_deletion	0				HGNC	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.368_370delGCA	17.37:g.71205868_71205870delTGC	ENSP00000384648:p.Ser123del	Somatic	0	42	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B4E339	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.S144in_frame_del	ENST00000403627.3	37	c.433_431	CCDS11693.2	17																																																																																			-	NULL		0.596	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	protein_coding	OTTHUMT00000318935.1	TGC	NM_032837			71205861	-1	no_errors	ENST00000405159	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
CAD	790	genome.wustl.edu	37	2	27464970	27464970	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:27464970delC	ENST00000403525.1	+	38	6030	c.5886delC	c.(5884-5886)cacfs	p.H1962fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.H2025fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCCGGCACCCCCAGCCTG	0.617																																																	0								ENSG00000084774						27.0	26.0	27.0					2																	27464970		2203	4298	6501	CAD	SO:0001589	frameshift_variant	0				HGNC	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5886delC	2.37:g.27464970delC	ENSP00000384510:p.His1962fs	Somatic	0	22	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.Q2027fs	ENST00000403525.1	37	c.6075		2																																																																																			-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	C				27464970	+1	no_errors	ENST00000264705	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
POU4F2	5458	genome.wustl.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	GGCGGCGGC	GGCGGCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																																	0								ENSG00000151615																																			POU4F2	SO:0001651	inframe_deletion	0				HGNC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del	Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.GGG59in_frame_del	ENST00000281321.3	37	c.166_174	CCDS34074.1	4																																																																																			-	NULL		0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	protein_coding	OTTHUMT00000367020.1	GGCGGCGGC	NM_004575			147560466	+1	no_errors	ENST00000281321	ensembl	human	known	74_37	in_frame_del	DEL	0.992:0.990:0.987:0.986:0.984:0.983:0.983:0.983:0.983	-
TMEM194B	100131211	genome.wustl.edu	37	2	191379397	191379397	+	Silent	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:191379397G>A	ENST00000409150.3	-	7	801	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_001142645.1	NP_001136117.1	A6NFY4	T194B_HUMAN	transmembrane protein 194B	245						integral component of membrane (GO:0016021)											CAACTATCAAGACATAGCCTG	0.398																																																	0								ENSG00000189362						79.0	73.0	75.0					2																	191379397		692	1591	2283	TMEM194B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46476.1	2q32.2	2008-06-10			ENSG00000189362	ENSG00000189362			33700	protein-coding gene	gene with protein product							Standard	NM_001142645		Approved		uc010zgf.2	A6NFY4	OTTHUMG00000154454	ENST00000409150.3:c.735C>T	2.37:g.191379397G>A		Somatic	0	67	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	46	41.03	B4DYG6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TMEM194	p.S138F	ENST00000409150.3	37	c.413	CCDS46476.1	2																																																																																			-	NULL		0.398	TMEM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194B	protein_coding	OTTHUMT00000335299.1	G	XM_001723498	-		191379397	-1	no_errors	ENST00000414176	ensembl	human	known	74_37	missense	SNP	0.000	A
RIMS2	9699	genome.wustl.edu	37	8	104863873	104863878	+	Intron	DEL	ACACAC	ACACAC	-	rs56306101|rs10529078|rs369439768|rs59712615	byFrequency	TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	ACACAC	ACACAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr8:104863873_104863878delACACAC	ENST00000507740.1	+	1	358				RIMS2_ENST00000522174.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|AP001572.1_ENST00000401294.1_RNA	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AATGCTATGTacacacacacacacac	0.359										HNSCC(12;0.0054)																																							0								ENSG00000216113																																			AP001572.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.122+32016ACACAC>-	8.37:g.104863879_104863884delACACAC		Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000507740.1	37	NULL	CCDS43761.1	8																																																																																			-	-		0.359	RIMS2-005	NOVEL	basic|CCDS	protein_coding	ENSG00000216113	protein_coding	OTTHUMT00000367215.1	ACACAC	NM_001100117			104863878	+1	no_errors	ENST00000401294	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000	-
ANKRD18B	441459	genome.wustl.edu	37	9	33566231	33566231	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:33566231G>A	ENST00000290943.6	+	13	2385	c.2289G>A	c.(2287-2289)atG>atA	p.M763I		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	763										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						ATGATCTTATGGCCGAGAAGG	0.323																																																	0								ENSG00000230453																																			ANKRD18B	SO:0001583	missense	0			-	HGNC			9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.2289G>A	9.37:g.33566231G>A	ENSP00000290943:p.Met763Ile	Somatic	0	139	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	68	76	47.22		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M763I	ENST00000290943.6	37	c.2289		9	.	.	.	.	.	.	.	.	.	.	g	2.274	-0.366262	0.05069	.	.	ENSG00000230453	ENST00000290943;ENST00000357927	T;T	0.26810	1.71;3.16	1.64	0.18	0.15068	.	.	.	.	.	T	0.18257	0.0438	.	.	.	0.21105	N	0.999784	.	.	.	.	.	.	T	0.28681	-1.0036	5	0.33141	T	0.24	.	3.4674	0.07554	0.7631:0.0:0.2369:0.0	.	.	.	.	I	763;144	ENSP00000290943:M763I;ENSP00000350607:M144I	ENSP00000290943:M763I	M	+	3	0	ANKRD18B	33556231	0.024000	0.19004	0.025000	0.17156	0.003000	0.03518	0.421000	0.21280	0.091000	0.17302	-0.691000	0.03719	ATG	-	NULL		0.323	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	protein_coding	OTTHUMT00000313729.2	G	XM_001718334	-		33566231	+1	no_errors	ENST00000290943	ensembl	human	known	74_37	missense	SNP	0.054	A
SLC4A4	8671	genome.wustl.edu	37	4	72332163	72332163	+	Silent	SNP	C	C	T	rs373128647		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:72332163C>T	ENST00000264485.5	+	13	1617	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	SLC4A4_ENST00000512686.1_Silent_p.G456G|SLC4A4_ENST00000425175.1_Silent_p.G500G|SLC4A4_ENST00000351898.6_Silent_p.G500G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Silent_p.G456G	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	500					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.G500G(1)|p.G456G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TATTTTAGGGCGTGTTGGAGA	0.413																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000080493	C	,,	0,4406		0,0,2203	161.0	157.0	158.0		1500,1500,1368	-2.5	1.0	4		158	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC4A4	NM_001098484.2,NM_001134742.1,NM_003759.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	500/1080,500/1095,456/1036	72332163	1,13005	2203	4300	6503	SLC4A4	SO:0001819	synonymous_variant	0			-	HGNC	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1500C>T	4.37:g.72332163C>T		Somatic	0	79	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	41	35.94	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.G500	ENST00000264485.5	37	c.1500	CCDS43236.1	4																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	protein_coding	OTTHUMT00000362090.1	C	NM_003759	-		72332163	+1	no_errors	ENST00000425175	ensembl	human	known	74_37	silent	SNP	0.754	T
COL4A3	1285	genome.wustl.edu	37	2	228122337	228122337	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:228122337G>T	ENST00000396578.3	+	18	1168	c.1006G>T	c.(1006-1008)Ggc>Tgc	p.G336C	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	336	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGGGACATTGGCCCTCCAGG	0.353																																																	0								ENSG00000169031						144.0	135.0	138.0					2																	228122337		1861	4090	5951	COL4A3	SO:0001583	missense	0			-	HGNC		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1006G>T	2.37:g.228122337G>T	ENSP00000379823:p.Gly336Cys	Somatic	0	109	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	6	89.29	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G336C	ENST00000396578.3	37	c.1006	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126521	0.56721	.	.	ENSG00000169031	ENST00000396578	D	0.99637	-6.29	5.96	5.96	0.96718	.	.	.	.	.	D	0.99789	0.9911	H	0.97291	3.975	0.47994	D	0.999567	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.988;0.988;0.988;0.993	D	0.97222	0.9878	9	0.87932	D	0	.	15.9124	0.79482	0.0:0.0:1.0:0.0	.	336;336;336;336	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	C	336	ENSP00000379823:G336C	ENSP00000379823:G336C	G	+	1	0	COL4A3	227830581	1.000000	0.71417	0.969000	0.41365	0.386000	0.30323	5.591000	0.67536	2.824000	0.97209	0.655000	0.94253	GGC	-	pfam_Collagen		0.353	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	protein_coding	OTTHUMT00000331409.2	G	NM_000091	-		228122337	+1	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	SNP	0.988	T
GPR101	83550	genome.wustl.edu	37	X	136113605	136113605	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chrX:136113605C>A	ENST00000298110.1	-	1	228	c.229G>T	c.(229-231)Gac>Tac	p.D77Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGCAGCAGGTCGGTGACGAGG	0.607																																																	0								ENSG00000165370						57.0	55.0	56.0					X																	136113605		2203	4300	6503	GPR101	SO:0001583	missense	0			-	HGNC	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.229G>T	X.37:g.136113605C>A	ENSP00000298110:p.Asp77Tyr	Somatic	0	53	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	35	39.66	Q5JSM8|Q8NG93	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.D77Y	ENST00000298110.1	37	c.229	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938638	0.73557	.	.	ENSG00000165370	ENST00000298110	D	0.88896	-2.44	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.95544	0.8552	M	0.92738	3.34	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96569	0.9421	9	0.87932	D	0	-26.4374	14.4369	0.67287	0.0:1.0:0.0:0.0	.	77	Q96P66	GP101_HUMAN	Y	77	ENSP00000298110:D77Y	ENSP00000298110:D77Y	D	-	1	0	GPR101	135941271	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.555000	0.67301	1.985000	0.57927	0.544000	0.68410	GAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	protein_coding	OTTHUMT00000058519.1	C		-		136113605	-1	no_errors	ENST00000298110	ensembl	human	known	74_37	missense	SNP	0.999	A
GLCCI1	113263	genome.wustl.edu	37	7	8099754	8099754	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:8099754C>A	ENST00000223145.5	+	5	1399	c.842C>A	c.(841-843)cCa>cAa	p.P281Q	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	281						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GTTCCTATGCCACTGTCAAAT	0.358																																																	0								ENSG00000106415						129.0	119.0	122.0					7																	8099754		2203	4300	6503	GLCCI1	SO:0001583	missense	0			-	HGNC	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.842C>A	7.37:g.8099754C>A	ENSP00000223145:p.Pro281Gln	Somatic	0	92	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	56	78	41.79	A4D103|Q96FD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P281Q	ENST00000223145.5	37	c.842	CCDS34601.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233501	0.79688	.	.	ENSG00000106415	ENST00000223145;ENST00000414914	.	.	.	5.14	5.14	0.70334	.	0.159595	0.56097	D	0.000030	T	0.72669	0.3489	M	0.64170	1.965	0.58432	D	0.999999	D	0.56521	0.976	P	0.54060	0.741	T	0.74957	-0.3487	9	0.62326	D	0.03	-29.1835	19.5458	0.95297	0.0:1.0:0.0:0.0	.	281	Q86VQ1	GLCI1_HUMAN	Q	281;139	.	ENSP00000223145:P281Q	P	+	2	0	GLCCI1	8066279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.081000	0.64444	2.788000	0.95919	0.585000	0.79938	CCA	-	NULL		0.358	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	protein_coding	OTTHUMT00000324672.1	C	NM_138426	-		8099754	+1	no_errors	ENST00000223145	ensembl	human	known	74_37	missense	SNP	1.000	A
RABGAP1	23637	genome.wustl.edu	37	9	125827752	125827753	+	Intron	INS	-	-	A	rs372161397|rs3214358|rs374713384		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr9:125827752_125827753insA	ENST00000373647.4	+	14	2042				RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TATTTCATGTCAAAAAAAAAAA	0.347																																																	0								ENSG00000011454																																			RABGAP1	SO:0001627	intron_variant	0				HGNC	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1908+12->A	9.37:g.125827763_125827763dupA		Somatic	0	41	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	59	9.23	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.K576fs	ENST00000373647.4	37	c.1716_1717	CCDS6848.2	9																																																																																			-	pfscan_Rab-GTPase-TBC_dom		0.347	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	protein_coding	OTTHUMT00000053976.3	-	NM_012197			125827753	+1	no_errors	ENST00000456584	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	A
LMNA	4000	genome.wustl.edu	37	1	156084886	156084886	+	Silent	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:156084886G>T	ENST00000368300.4	+	1	389	c.177G>T	c.(175-177)ctG>ctT	p.L59L	LMNA_ENST00000368301.2_Silent_p.L59L|LMNA_ENST00000361308.4_Silent_p.L59L|LMNA_ENST00000368299.3_Silent_p.L59L|LMNA_ENST00000347559.2_Silent_p.L59L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	59	Coil 1A.|Interaction with MLIP.|Rod.		L -> R (in CMDHH). {ECO:0000269|PubMed:17150192, ECO:0000269|PubMed:19283854}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACGCAGGGCTGCGCCTTCGCA	0.647									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0								ENSG00000160789						35.0	30.0	31.0					1																	156084886		2193	4296	6489	LMNA	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	-	HGNC	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.177G>T	1.37:g.156084886G>T		Somatic	0	32	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.L59	ENST00000368300.4	37	c.177	CCDS1129.1	1																																																																																			-	pfam_IF,superfamily_Prefoldin		0.647	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	protein_coding	OTTHUMT00000039200.2	G	NM_170707	-		156084886	+1	no_errors	ENST00000368300	ensembl	human	known	74_37	silent	SNP	1.000	T
PCDH7	5099	genome.wustl.edu	37	4	30725638	30725638	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:30725638T>C	ENST00000361762.2	+	1	3602	c.2594T>C	c.(2593-2595)aTa>aCa	p.I865T	PCDH7_ENST00000543491.1_Missense_Mutation_p.I865T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	865					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACCCAGGATATAGCTGGTGAC	0.433																																																	0								ENSG00000169851						90.0	89.0	89.0					4																	30725638		2203	4300	6503	PCDH7	SO:0001583	missense	0			-	HGNC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2594T>C	4.37:g.30725638T>C	ENSP00000355243:p.Ile865Thr	Somatic	0	37	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I865T	ENST00000361762.2	37	c.2594	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722216	0.48728	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.39592	1.07;1.07	4.96	4.96	0.65561	Protocadherin (1);	.	.	.	.	T	0.59998	0.2235	L	0.56769	1.78	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	T	0.59423	-0.7457	9	0.41790	T	0.15	.	14.7983	0.69894	0.0:0.0:0.0:1.0	.	865;818;865	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	T	865;865;818	ENSP00000355243:I865T;ENSP00000441802:I865T	ENSP00000330302:I818T	I	+	2	0	PCDH7	30334736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.084000	0.62774	0.533000	0.62120	ATA	-	pfam_Protocadherin		0.433	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	protein_coding	OTTHUMT00000360366.1	T	NM_032457, NM_002589	-		30725638	+1	no_errors	ENST00000543491	ensembl	human	known	74_37	missense	SNP	1.000	C
MAP2K1	5604	genome.wustl.edu	37	15	66784398	66784398	+	3'UTR	DEL	A	A	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr15:66784398delA	ENST00000307102.5	+	0	3158				CTD-3185P2.2_ENST00000602360.1_RNA|SNAPC5_ENST00000563480.2_Intron|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000395589.2_Intron	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GACATTAAGCAATGGTTTCCC	0.522																																																	0								ENSG00000261351																																			CTD-3185P2.1	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.*1445A>-	15.37:g.66784398delA		Somatic	0	66	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	25	43.18		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000307102.5	37	NULL	CCDS10216.1	15																																																																																			-	-		0.522	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261351	protein_coding	OTTHUMT00000256906.4	A				66784398	-1	no_errors	ENST00000565387	ensembl	human	known	74_37	rna	DEL	0.002	-
PDE3B	5140	genome.wustl.edu	37	11	14891166	14891166	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:14891166A>C	ENST00000282096.4	+	16	3652	c.3299A>C	c.(3298-3300)gAt>gCt	p.D1100A	PDE3B_ENST00000455098.2_Missense_Mutation_p.D1049A	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	1100					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CCTCAAGCAGATGAGATTCAG	0.428																																																	0								ENSG00000152270						100.0	100.0	100.0					11																	14891166		2200	4294	6494	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.3299A>C	11.37:g.14891166A>C	ENSP00000282096:p.Asp1100Ala	Somatic	0	63	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	29	53.97	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.D1100A	ENST00000282096.4	37	c.3299	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298419	0.60195	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.67171	-0.25;-0.17	6.03	4.87	0.63330	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.498735	0.21716	N	0.070186	T	0.65154	0.2664	M	0.72894	2.215	0.46356	D	0.999004	P;P	0.42871	0.792;0.657	B;B	0.37650	0.255;0.255	T	0.72228	-0.4354	10	0.72032	D	0.01	.	13.5498	0.61726	0.8707:0.1293:0.0:0.0	.	1049;1100	B7ZM37;Q13370	.;PDE3B_HUMAN	A	1100;1049	ENSP00000282096:D1100A;ENSP00000388644:D1049A	ENSP00000282096:D1100A	D	+	2	0	PDE3B	14847742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.135000	0.77276	2.313000	0.78055	0.455000	0.32223	GAT	-	NULL		0.428	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	A	NM_000922	-		14891166	+1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	1.000	C
R3HDM1	23518	genome.wustl.edu	37	2	136437847	136437860	+	Frame_Shift_Del	DEL	GCCTGTTTACTATA	GCCTGTTTACTATA	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	GCCTGTTTACTATA	GCCTGTTTACTATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr2:136437847_136437860delGCCTGTTTACTATA	ENST00000264160.4	+	20	2677_2690	c.2307_2320delGCCTGTTTACTATA	c.(2305-2322)atgcctgtttactatagtfs	p.PVYYS770fs	R3HDM1_ENST00000410054.1_Frame_Shift_Del_p.PVYYS715fs|R3HDM1_ENST00000409606.1_Frame_Shift_Del_p.PVYYS771fs|R3HDM1_ENST00000329971.3_Frame_Shift_Del_p.PVYYS641fs|R3HDM1_ENST00000409478.1_Frame_Shift_Del_p.PVYYS642fs	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	770							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CAACAGGAATGCCTGTTTACTATAGTGTCATTCC	0.416																																																	0								ENSG00000048991																																			R3HDM1	SO:0001589	frameshift_variant	0				HGNC	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2307_2320delGCCTGTTTACTATA	2.37:g.136437847_136437860delGCCTGTTTACTATA	ENSP00000264160:p.Pro770fs	Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P770fs	ENST00000264160.4	37	c.2307_2320	CCDS2177.1	2																																																																																			-	NULL		0.416	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	GCCTGTTTACTATA	NM_015361			136437860	+1	no_errors	ENST00000264160	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
LBP	3929	genome.wustl.edu	37	20	36977952	36977952	+	Splice_Site	DEL	G	G	-	rs147682433		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr20:36977952delG	ENST00000217407.2	+	2	287	c.126delG	c.(124-126)gcg>gc	p.A43fs		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	43					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCACAGCGGCCCAGGAGG	0.627																																																	0								ENSG00000129988						23.0	22.0	23.0					20																	36977952		2203	4299	6502	LBP	SO:0001630	splice_region_variant	0				HGNC		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.125-1G>-	20.37:g.36977952delG		Somatic	0	9	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	B2R938|O43438|Q92672|Q9H403|Q9UD66	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.A43fs	ENST00000217407.2	37	c.126	CCDS13304.1	20																																																																																			-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.627	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBP	protein_coding	OTTHUMT00000079174.2	G	NM_004139		Frame_Shift_Del	36977952	+1	no_errors	ENST00000217407	ensembl	human	known	74_37	frame_shift_del	DEL	0.870	-
GLCCI1	113263	genome.wustl.edu	37	7	8099753	8099753	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:8099753C>A	ENST00000223145.5	+	5	1398	c.841C>A	c.(841-843)Cca>Aca	p.P281T	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	281						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGTTCCTATGCCACTGTCAAA	0.358																																																	0								ENSG00000106415						128.0	118.0	122.0					7																	8099753		2203	4300	6503	GLCCI1	SO:0001583	missense	0			-	HGNC	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.841C>A	7.37:g.8099753C>A	ENSP00000223145:p.Pro281Thr	Somatic	0	91	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	77	41.22	A4D103|Q96FD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P281T	ENST00000223145.5	37	c.841	CCDS34601.1	7	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897540	0.91962	.	.	ENSG00000106415	ENST00000223145;ENST00000414914	.	.	.	5.14	5.14	0.70334	.	0.159595	0.56097	D	0.000030	T	0.77671	0.4165	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.78663	-0.2116	9	0.66056	D	0.02	-29.1835	19.5458	0.95297	0.0:1.0:0.0:0.0	.	281	Q86VQ1	GLCI1_HUMAN	T	281;139	.	ENSP00000223145:P281T	P	+	1	0	GLCCI1	8066278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.817000	0.75252	2.788000	0.95919	0.585000	0.79938	CCA	-	NULL		0.358	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCCI1	protein_coding	OTTHUMT00000324672.1	C	NM_138426	-		8099753	+1	no_errors	ENST00000223145	ensembl	human	known	74_37	missense	SNP	1.000	A
SMARCA5	8467	genome.wustl.edu	37	4	144481091	144481091	+	IGR	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr4:144481091C>A	ENST00000283131.3	+	0	7923				GUSBP5_ENST00000510805.1_RNA	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCTTTGACACCGACATCAGTA	0.597																																																	0								ENSG00000236296						122.0	120.0	120.0					4																	144481091		692	1591	2283	GUSBP5	SO:0001628	intergenic_variant	0			-	HGNC	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474		4.37:g.144481091C>A		Somatic	0	57	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000283131.3	37	NULL	CCDS3761.1	4																																																																																			-	-		0.597	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSBP5	protein_coding	OTTHUMT00000365077.3	C		-		144481091	+1	no_errors	ENST00000509369	ensembl	human	known	74_37	rna	SNP	0.593	A
DNTT	1791	genome.wustl.edu	37	10	98064414	98064414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:98064414G>T	ENST00000371174.2	+	1	262	c.160G>T	c.(160-162)Gag>Tag	p.E54*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.E54*|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	54	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTTCCTCATGGAGCTGGCCCG	0.478																																																	0								ENSG00000107447						38.0	45.0	43.0					10																	98064414		2203	4300	6503	DNTT	SO:0001587	stop_gained	0			-	HGNC	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.160G>T	10.37:g.98064414G>T	ENSP00000360216:p.Glu54*	Somatic	0	31	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.E54*	ENST00000371174.2	37	c.160	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.929029	0.97940	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.9	5.9	0.94986	.	0.305262	0.39834	N	0.001246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-5.6016	17.776	0.88508	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000360216:E54X	E	+	1	0	DNTT	98054404	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.626000	0.61269	2.806000	0.96561	0.655000	0.94253	GAG	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu		0.478	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	protein_coding	OTTHUMT00000049607.1	G	NM_004088	-		98064414	+1	no_errors	ENST00000371174	ensembl	human	known	74_37	nonsense	SNP	1.000	T
POM121L2	94026	genome.wustl.edu	37	6	27278578	27278578	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr6:27278578C>A	ENST00000444565.1	-	1	1371	c.1372G>T	c.(1372-1374)Gac>Tac	p.D458Y	POM121L2_ENST00000377451.2_Missense_Mutation_p.D394Y	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	458	Pro-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						GGCTTTGAGTCTGGAGAGGTG	0.587																																																	0								ENSG00000158553						84.0	90.0	88.0					6																	27278578		692	1591	2283	POM121L2	SO:0001583	missense	0			-	HGNC	AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.1372G>T	6.37:g.27278578C>A	ENSP00000392726:p.Asp458Tyr	Somatic	0	43	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	C9J1I7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D458Y	ENST00000444565.1	37	c.1372	CCDS59497.1	6	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677014	0.47886	.	.	ENSG00000158553	ENST00000377451;ENST00000444565	T;T	0.19532	2.15;2.14	4.34	3.47	0.39725	.	.	.	.	.	T	0.24122	0.0584	M	0.75777	2.31	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.05084	-1.0907	9	0.34782	T	0.22	.	8.9207	0.35610	0.0:0.8919:0.0:0.1081	.	458	C9J1I7	.	Y	394;458	ENSP00000366671:D394Y;ENSP00000392726:D458Y	ENSP00000366671:D394Y	D	-	1	0	POM121L2	27386557	0.003000	0.15002	0.002000	0.10522	0.184000	0.23303	0.919000	0.28692	1.132000	0.42129	0.561000	0.74099	GAC	-	NULL		0.587	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L2	protein_coding	OTTHUMT00000040143.2	C	NM_033482	-		27278578	-1	no_errors	ENST00000444565	ensembl	human	known	74_37	missense	SNP	0.005	A
DYNC2H1	79659	genome.wustl.edu	37	11	103025517	103025517	+	Silent	SNP	A	A	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:103025517A>G	ENST00000375735.2	+	24	3696	c.3552A>G	c.(3550-3552)caA>caG	p.Q1184Q	DYNC2H1_ENST00000398093.3_Silent_p.Q1184Q|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1184	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAAATTACAATCAGAGGTTG	0.303																																																	0								ENSG00000187240						50.0	45.0	47.0					11																	103025517		1815	4060	5875	DYNC2H1	SO:0001819	synonymous_variant	0			-	HGNC	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3552A>G	11.37:g.103025517A>G		Somatic	0	84	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	59	45.87	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q1184	ENST00000375735.2	37	c.3552	CCDS53701.1	11																																																																																			-	pfam_Dynein_heavy_dom-2		0.303	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	A	XM_370652	-		103025517	+1	no_errors	ENST00000398093	ensembl	human	known	74_37	silent	SNP	0.995	G
LCE4A	199834	genome.wustl.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	TGTGGT	TGTGGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																																	0								ENSG00000187170																																			LCE4A	SO:0001651	inframe_deletion	0				HGNC	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del	Somatic	NA	NA	NA		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q14D97	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.GC49in_frame_del	ENST00000368777.1	37	c.142_147	CCDS1022.1	1																																																																																			-	NULL		0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE4A	protein_coding	OTTHUMT00000040048.1	TGTGGT	NM_178356			152681698	+1	no_errors	ENST00000335535	ensembl	human	known	74_37	in_frame_del	DEL	0.057:0.261:0.001:0.000:0.002:0.000	-
STYK1	55359	genome.wustl.edu	37	12	10772806	10772806	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:10772806T>G	ENST00000075503.3	-	11	1726	c.1206A>C	c.(1204-1206)gaA>gaC	p.E402D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	402						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTGCATACAGTTCAGGTACCA	0.502										HNSCC(73;0.22)																																							0								ENSG00000060140						184.0	175.0	178.0					12																	10772806		2203	4300	6503	STYK1	SO:0001583	missense	0			-	HGNC	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1206A>C	12.37:g.10772806T>G	ENSP00000075503:p.Glu402Asp	Somatic	0	18	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	2	88.89	B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E402D	ENST00000075503.3	37	c.1206	CCDS8629.1	12	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903236	0.52333	.	.	ENSG00000060140	ENST00000075503	T	0.78816	-1.21	4.96	-6.26	0.02033	Protein kinase-like domain (1);	0.276103	0.29730	N	0.011357	T	0.60431	0.2268	L	0.41824	1.3	0.37866	D	0.929881	B	0.25390	0.125	B	0.22753	0.041	T	0.26155	-1.0111	10	0.59425	D	0.04	-4.1553	7.7231	0.28744	0.0:0.4083:0.3736:0.218	.	402	Q6J9G0	STYK1_HUMAN	D	402	ENSP00000075503:E402D	ENSP00000075503:E402D	E	-	3	2	STYK1	10664073	0.278000	0.24230	0.961000	0.40146	0.986000	0.74619	-0.913000	0.04042	-0.725000	0.04901	0.460000	0.39030	GAA	-	superfamily_Kinase-like_dom		0.502	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	protein_coding	OTTHUMT00000399622.1	T	NM_018423	-		10772806	-1	no_errors	ENST00000075503	ensembl	human	known	74_37	missense	SNP	0.642	G
SCCPDH	51097	genome.wustl.edu	37	1	246890241	246890241	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:246890241G>T	ENST00000366510.3	+	2	614	c.238G>T	c.(238-240)Gct>Tct	p.A80S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	80						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGATATTGCTAATCCAGC	0.383																																																	0								ENSG00000143653						145.0	127.0	133.0					1																	246890241		2203	4300	6503	SCCPDH	SO:0001583	missense	0			-	HGNC		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.238G>T	1.37:g.246890241G>T	ENSP00000355467:p.Ala80Ser	Somatic	0	57	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	Q8TAR0|Q9Y363	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Saccharopine_DH/HSpermid_syn	p.A80S	ENST00000366510.3	37	c.238	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	G	1.417	-0.574047	0.03882	.	.	ENSG00000143653	ENST00000366510	T	0.40756	1.02	6.17	0.935	0.19483	.	0.624103	0.17849	N	0.159937	T	0.12732	0.0309	N	0.03983	-0.305	0.09310	N	0.99999	B	0.02656	0.0	B	0.10450	0.005	T	0.27434	-1.0074	10	0.02654	T	1	.	2.3502	0.04281	0.5187:0.2365:0.131:0.1138	.	80	Q8NBX0	SCPDL_HUMAN	S	80	ENSP00000355467:A80S	ENSP00000355467:A80S	A	+	1	0	SCCPDH	244956864	0.003000	0.15002	0.486000	0.27416	0.739000	0.42172	0.777000	0.26718	0.172000	0.19760	-1.087000	0.02190	GCT	-	pfam_Saccharopine_DH/HSpermid_syn		0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	protein_coding	OTTHUMT00000096902.2	G	NM_016002	-		246890241	+1	no_errors	ENST00000366510	ensembl	human	known	74_37	missense	SNP	0.330	T
ADAM21P1	145241	genome.wustl.edu	37	14	70713492	70713492	+	RNA	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr14:70713492G>T	ENST00000530196.1	-	0	1026					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ATGAACGTATGTGCAGCACCA	0.383																																																	0								ENSG00000235812																																			ADAM21P1			0			-	HGNC			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713492G>T		Somatic	0	76	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	57	35.23		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			-	-		0.383	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	pseudogene	OTTHUMT00000390451.1	G	NG_002467	-		70713492	-1	no_errors	ENST00000530196	ensembl	human	known	74_37	rna	SNP	0.369	T
TP53I13	90313	genome.wustl.edu	37	17	27899271	27899271	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:27899271G>A	ENST00000301057.7	+	6	740	c.625G>A	c.(625-627)Gct>Act	p.A209T	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	209						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GAGGCTGCGGGCTGCCCTTGG	0.662																																																	0								ENSG00000167543						19.0	23.0	21.0					17																	27899271		2034	4173	6207	TP53I13	SO:0001583	missense	0			-	HGNC	AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.625G>A	17.37:g.27899271G>A	ENSP00000301057:p.Ala209Thr	Somatic	0	35	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q7L5U3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A209T	ENST00000301057.7	37	c.625	CCDS42289.1	17	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000684	0.93227	.	.	ENSG00000167543	ENST00000301057	.	.	.	3.94	3.94	0.45596	.	0.091443	0.41605	D	0.000858	T	0.69360	0.3102	M	0.68317	2.08	0.34183	D	0.67115	D	0.76494	0.999	D	0.71414	0.973	T	0.74219	-0.3736	9	0.26408	T	0.33	-10.0604	11.6787	0.51444	0.0:0.0:1.0:0.0	.	209	Q8NBR0	P5I13_HUMAN	T	209	.	ENSP00000301057:A209T	A	+	1	0	TP53I13	24923397	0.994000	0.37717	0.987000	0.45799	0.419000	0.31324	5.424000	0.66464	2.199000	0.70637	0.462000	0.41574	GCT	-	NULL		0.662	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I13	protein_coding	OTTHUMT00000447804.2	G	NM_138349	-		27899271	+1	no_errors	ENST00000301057	ensembl	human	known	74_37	missense	SNP	0.997	A
PCDHA6	56142	genome.wustl.edu	37	5	140208442	140208442	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr5:140208442G>C	ENST00000529310.1	+	1	880	c.766G>C	c.(766-768)Gac>Cac	p.D256H	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D256H	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAAATGCAGACAACGGAAC	0.438																																																	0								ENSG00000081842						90.0	85.0	87.0					5																	140208442		2203	4300	6503	PCDHA6	SO:0001583	missense	0			-	HGNC	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.766G>C	5.37:g.140208442G>C	ENSP00000433378:p.Asp256His	Somatic	0	92	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	58	43.81	O75283|Q9NRT8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D256H	ENST00000529310.1	37	c.766	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	1.731	-0.494228	0.04322	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.01887	4.58;4.58	3.7	1.65	0.23941	Cadherin (4);Cadherin-like (1);	1.513640	0.05183	U	0.501775	T	0.04318	0.0119	L	0.58510	1.815	0.09310	N	1	B;B;B	0.13594	0.004;0.008;0.001	B;B;B	0.22601	0.004;0.04;0.001	T	0.42749	-0.9433	10	0.87932	D	0	.	8.4005	0.32583	0.0:0.1444:0.572:0.2836	.	256;256;256	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	H	256	ENSP00000433378:D256H;ENSP00000434113:D256H	ENSP00000434113:D256H	D	+	1	0	PCDHA6	140188626	0.000000	0.05858	0.006000	0.13384	0.273000	0.26683	-0.715000	0.04997	0.861000	0.35504	0.313000	0.20887	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin		0.438	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	G	NM_018909	-		140208442	+1	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	SNP	0.000	C
FEZF2	55079	genome.wustl.edu	37	3	62358026	62358026	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr3:62358026T>C	ENST00000283268.3	-	2	812	c.518A>G	c.(517-519)aAc>aGc	p.N173S	FEZF2_ENST00000475839.1_Missense_Mutation_p.N173S|FEZF2_ENST00000486811.1_Missense_Mutation_p.N173S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	173					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GTCCAGGTAGTTGAAGTAGTA	0.706																																					NSCLC(170;1772 2053 12525 15604 23984)												0								ENSG00000153266						16.0	23.0	20.0					3																	62358026		2202	4283	6485	FEZF2	SO:0001583	missense	0			-	HGNC	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.518A>G	3.37:g.62358026T>C	ENSP00000283268:p.Asn173Ser	Somatic	0	44	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N173S	ENST00000283268.3	37	c.518	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150282	0.57151	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.08634	3.07;3.07;3.07	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	M	0.72894	2.215	0.58432	D	0.999998	B	0.19583	0.037	B	0.15870	0.014	T	0.01553	-1.1326	10	0.66056	D	0.02	-21.4248	14.6274	0.68632	0.0:0.0:0.0:1.0	.	173	Q8TBJ5	FEZF2_HUMAN	S	173	ENSP00000418589:N173S;ENSP00000283268:N173S;ENSP00000418804:N173S	ENSP00000283268:N173S	N	-	2	0	FEZF2	62333066	.	.	1.000000	0.80357	0.997000	0.91878	.	.	1.953000	0.56701	0.454000	0.30748	AAC	-	NULL		0.706	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	protein_coding	OTTHUMT00000351813.1	T	NM_018008	-		62358026	-1	no_errors	ENST00000283268	ensembl	human	known	74_37	missense	SNP	1.000	C
MCM7	4176	genome.wustl.edu	37	7	99695466	99695466	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr7:99695466G>T	ENST00000303887.5	-	8	1621	c.976C>A	c.(976-978)Caa>Aaa	p.Q326K	MCM7_ENST00000354230.3_Missense_Mutation_p.Q150K|MCM7_ENST00000343023.6_Missense_Mutation_p.Q326K	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	326					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTGCAATTTGCCTCAGCTCC	0.502																																																	0								ENSG00000166508						135.0	125.0	129.0					7																	99695466		2203	4300	6503	MCM7	SO:0001583	missense	0			-	HGNC		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.976C>A	7.37:g.99695466G>T	ENSP00000307288:p.Gln326Lys	Somatic	0	63	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4	p.Q326K	ENST00000303887.5	37	c.976	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	G	9.438	1.087420	0.20390	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T;T	0.09445	2.98;3.44;3.44	4.7	4.7	0.59300	.	0.547830	0.19842	N	0.104826	T	0.07908	0.0198	N	0.17278	0.47	0.39046	D	0.96023	B	0.12630	0.006	B	0.19666	0.026	T	0.31779	-0.9931	10	0.18276	T	0.48	-11.2198	15.2095	0.73209	0.0:0.0:1.0:0.0	.	326	P33993	MCM7_HUMAN	K	326;326;263;219;150	ENSP00000344006:Q326K;ENSP00000307288:Q326K;ENSP00000346171:Q150K	ENSP00000307288:Q326K	Q	-	1	0	MCM7	99533402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.333000	0.65917	2.453000	0.82957	0.561000	0.74099	CAA	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase		0.502	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	protein_coding	OTTHUMT00000336534.3	G		-		99695466	-1	no_errors	ENST00000303887	ensembl	human	known	74_37	missense	SNP	1.000	T
PFKFB3	5209	genome.wustl.edu	37	10	6255641	6255641	+	Silent	SNP	C	C	A	rs146319524		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr10:6255641C>A	ENST00000379775.4	+	2	462	c.132C>A	c.(130-132)ccC>ccA	p.P44P	PFKFB3_ENST00000379782.3_Silent_p.P44P|PFKFB3_ENST00000360521.2_Silent_p.P44P|PFKFB3_ENST00000379789.4_Silent_p.P24P|PFKFB3_ENST00000540253.1_Silent_p.P58P|PFKFB3_ENST00000379785.1_Silent_p.P44P|PFKFB3_ENST00000536985.1_Silent_p.P24P|PFKFB3_ENST00000317350.4_Silent_p.P44P	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	44	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGGGCCTCCCCGCCCGGGGCA	0.597																																																	0								ENSG00000170525						156.0	132.0	140.0					10																	6255641		2203	4300	6503	PFKFB3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.132C>A	10.37:g.6255641C>A		Somatic	0	35	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.P58	ENST00000379775.4	37	c.174	CCDS7078.1	10																																																																																			-	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.597	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	protein_coding	OTTHUMT00000046647.1	C		-		6255641	+1	no_errors	ENST00000540253	ensembl	human	known	74_37	silent	SNP	0.002	A
TSPAN19	144448	genome.wustl.edu	37	12	85409741	85409741	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr12:85409741T>A	ENST00000532498.2	-	8	684	c.604A>T	c.(604-606)Aat>Tat	p.N202Y	TSPAN19_ENST00000547403.2_5'Flank	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	202						integral component of membrane (GO:0016021)				ovary(1)	1						CTGATTTTATTTTCACAACCC	0.284																																																	0								ENSG00000231738						36.0	34.0	35.0					12																	85409741		1778	4017	5795	TSPAN19	SO:0001583	missense	0			-	HGNC		CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.604A>T	12.37:g.85409741T>A	ENSP00000433816:p.Asn202Tyr	Somatic	0	102	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	409	1361	23.09		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.N202Y	ENST00000532498.2	37	c.604	CCDS44949.1	12	.	.	.	.	.	.	.	.	.	.	T	7.948	0.744308	0.15710	.	.	ENSG00000231738	ENST00000532498	T	0.79554	-1.28	4.06	-2.39	0.06602	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.68979	0.3060	N	0.14661	0.345	0.09310	N	0.999998	D	0.55385	0.971	P	0.52109	0.69	T	0.60791	-0.7193	9	0.66056	D	0.02	.	4.2716	0.10789	0.1912:0.4547:0.0:0.3541	.	202	P0C672	TSN19_HUMAN	Y	202	ENSP00000433816:N202Y	ENSP00000433816:N202Y	N	-	1	0	TSPAN19	83933872	0.728000	0.28080	0.404000	0.26397	0.019000	0.09904	-0.141000	0.10327	-0.330000	0.08514	-0.262000	0.10625	AAT	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.284	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN19	protein_coding	OTTHUMT00000388240.2	T	NM_001100917	-		85409741	-1	no_errors	ENST00000532498	ensembl	human	known	74_37	missense	SNP	0.449	A
PARVB	29780	genome.wustl.edu	37	22	44514977	44514977	+	Silent	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr22:44514977G>T	ENST00000338758.7	+	4	396	c.333G>T	c.(331-333)ctG>ctT	p.L111L	PARVB_ENST00000404989.1_Silent_p.L74L|PARVB_ENST00000406477.3_Silent_p.L144L	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	111	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGAAGCAGCTGGAGGAAGACC	0.602																																																	0								ENSG00000188677						194.0	166.0	175.0					22																	44514977		2203	4300	6503	PARVB	SO:0001819	synonymous_variant	0			-	HGNC	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.333G>T	22.37:g.44514977G>T		Somatic	0	50	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.L144	ENST00000338758.7	37	c.432	CCDS14056.1	22																																																																																			-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.602	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319518.2	G	NM_001003828	-		44514977	+1	no_errors	ENST00000406477	ensembl	human	known	74_37	silent	SNP	1.000	T
CCDC68	80323	genome.wustl.edu	37	18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr18:52604167C>T	ENST00000591504.1	-	6	642	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_ENST00000337363.4_Missense_Mutation_p.G123E|CCDC68_ENST00000432185.1_Missense_Mutation_p.G123E	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418																																																	0								ENSG00000166510						121.0	106.0	111.0					18																	52604167		2203	4300	6503	CCDC68	SO:0001583	missense	0			-	HGNC		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.368G>A	18.37:g.52604167C>T	ENSP00000466690:p.Gly123Glu	Somatic	0	59	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	40	43.66	B2R9I3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Prefoldin	p.G123E	ENST00000591504.1	37	c.368	CCDS11959.1	18	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449933	0.84101	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.39997	1.05;1.05	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000008	T	0.63510	0.2517	M	0.73598	2.24	0.45541	D	0.998494	D	0.89917	1.0	D	0.97110	1.0	T	0.57154	-0.7860	10	0.20519	T	0.43	-28.4592	16.7359	0.85447	0.0:1.0:0.0:0.0	.	123	Q9H2F9	CCD68_HUMAN	E	123	ENSP00000337209:G123E;ENSP00000413406:G123E	ENSP00000337209:G123E	G	-	2	0	CCDC68	50755165	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.102000	0.57776	2.775000	0.95449	0.650000	0.86243	GGA	-	NULL		0.418	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC68	protein_coding	OTTHUMT00000256006.1	C	NM_025214	-		52604167	-1	no_errors	ENST00000337363	ensembl	human	known	74_37	missense	SNP	1.000	T
EXOC7	23265	genome.wustl.edu	37	17	74093906	74093906	+	Missense_Mutation	SNP	C	C	T	rs576699784		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr17:74093906C>T	ENST00000335146.7	-	5	664	c.611G>A	c.(610-612)cGc>cAc	p.R204H	EXOC7_ENST00000332065.5_Missense_Mutation_p.R204H|EXOC7_ENST00000589210.1_Missense_Mutation_p.R204H|EXOC7_ENST00000405575.4_Missense_Mutation_p.R204H|EXOC7_ENST00000467929.2_Missense_Mutation_p.R163H|EXOC7_ENST00000607838.1_Missense_Mutation_p.R204H|EXOC7_ENST00000411744.2_Missense_Mutation_p.R204H			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	204					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CACCAGCCAGCGGGAGATGCG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18338	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000182473						66.0	58.0	61.0					17																	74093906		2203	4300	6503	EXOC7	SO:0001583	missense	0			-	HGNC	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.611G>A	17.37:g.74093906C>T	ENSP00000334100:p.Arg204His	Somatic	0	35	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.R204H	ENST00000335146.7	37	c.611	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814587	0.70912	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.99	4.0	0.46444	Cullin repeat-like-containing domain (1);	0.310593	0.35495	N	0.003176	T	0.29976	0.0750	N	0.08118	0	0.80722	D	1	P;B;P;P;D;B;P;B	0.53745	0.507;0.032;0.702;0.685;0.962;0.002;0.95;0.003	B;B;B;B;B;B;B;B	0.43728	0.237;0.016;0.131;0.237;0.291;0.001;0.429;0.003	T	0.12656	-1.0539	9	0.39692	T	0.17	-11.161	12.9993	0.58666	0.1615:0.8385:0.0:0.0	.	204;204;163;163;204;204;204;204	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	H	204;124;204;204;204;163;204;204;89	.	ENSP00000333806:R204H	R	-	2	0	EXOC7	71605501	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.702000	0.37836	1.292000	0.44672	0.563000	0.77884	CGC	-	superfamily_Cullin_repeat-like_dom		0.557	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	protein_coding	OTTHUMT00000319768.2	C	NM_015219	-		74093906	-1	no_errors	ENST00000335146	ensembl	human	known	74_37	missense	SNP	1.000	T
DDX27	55661	genome.wustl.edu	37	20	47852789	47852789	+	Intron	SNP	T	T	G			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr20:47852789T>G	ENST00000371764.4	+	13	1611				DDX27_ENST00000484427.1_Intron|ZNFX1_ENST00000469991.1_5'Flank	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTATCTTCCTTGGACTTTTG	0.498																																																	0								ENSG00000124228						123.0	108.0	113.0					20																	47852789		2203	4300	6503	DDX27	SO:0001627	intron_variant	0			-	HGNC	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1602+21T>G	20.37:g.47852789T>G		Somatic	0	69	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	32	50.00	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000371764.4	37	NULL	CCDS13416.1	20																																																																																			-	-		0.498	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	protein_coding	OTTHUMT00000080485.1	T		-		47852789	+1	no_errors	ENST00000471144	ensembl	human	known	74_37	rna	SNP	0.003	G
RP11-782C8.2	0	genome.wustl.edu	37	1	143210640	143210640	+	lincRNA	SNP	C	C	T	rs369337495		TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr1:143210640C>T	ENST00000412204.2	-	0	430				RP11-782C8.1_ENST00000438000.1_lincRNA																							CCCTGAATTACAACAAACTCA	0.269																																																	0								ENSG00000232274																																			RP11-782C8.2			0			-	Clone_based_vega_gene																													1.37:g.143210640C>T		Somatic	0	18	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			-	-		0.269	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	lincRNA	OTTHUMT00000037567.2	C		-		143210640	-1	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	SNP	0.011	T
MUC6	4588	genome.wustl.edu	37	11	1025278	1025278	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:1025278G>T	ENST00000421673.2	-	23	2939	c.2889C>A	c.(2887-2889)agC>agA	p.S963R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	963	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACGACAAGGCTCAGCGCAC	0.652																																																	0								ENSG00000184956						83.0	94.0	90.0					11																	1025278		2145	4231	6376	MUC6	SO:0001583	missense	0			-	HGNC	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2889C>A	11.37:g.1025278G>T	ENSP00000406861:p.Ser963Arg	Somatic	0	37	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S963R	ENST00000421673.2	37	c.2889	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	G	4.222	0.039961	0.08148	.	.	ENSG00000184956	ENST00000421673	T	0.60424	0.19	4.34	1.31	0.21738	von Willebrand factor, type D domain (3);	1.008240	0.08011	U	0.990286	T	0.39989	0.1099	N	0.25426	0.745	0.09310	N	0.999998	P	0.43287	0.802	B	0.37601	0.254	T	0.17137	-1.0379	10	0.27082	T	0.32	.	7.3891	0.26899	0.2856:0.0:0.7144:0.0	.	963	Q6W4X9	MUC6_HUMAN	R	963	ENSP00000406861:S963R	ENSP00000406861:S963R	S	-	3	2	MUC6	1015278	0.994000	0.37717	0.011000	0.14972	0.005000	0.04900	1.040000	0.30278	0.387000	0.25024	0.556000	0.70494	AGC	-	pfam_VWF_type-D,smart_VWF_type-D		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	G	XM_290540	-		1025278	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	SNP	0.390	T
TMEM217	221468	genome.wustl.edu	37	6	37186252	37186252	+	Silent	SNP	C	C	A			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr6:37186252C>A	ENST00000336655.2	-	2	594	c.555G>T	c.(553-555)tcG>tcT	p.S185S	TMEM217_ENST00000356757.2_Silent_p.S185S|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	185						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						tgaacccACTCGAAATTGATA	0.478																																																	0								ENSG00000172738						52.0	55.0	54.0					6																	37186252		2203	4299	6502	TMEM217	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.555G>T	6.37:g.37186252C>A		Somatic	0	40	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	24	54.72	Q8TC54	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S185	ENST00000336655.2	37	c.555	CCDS4831.1	6																																																																																			-	NULL		0.478	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM217	protein_coding	OTTHUMT00000357542.1	C	NM_145316	-		37186252	-1	no_errors	ENST00000336655	ensembl	human	known	74_37	silent	SNP	0.001	A
CDH22	64405	genome.wustl.edu	37	20	44815523	44815523	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr20:44815523G>T	ENST00000372262.3	-	8	1887	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	CDH22_ENST00000537909.1_Missense_Mutation_p.P496H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	496	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGTTCTGGGGGATTGTCGTT	0.587																																																	0								ENSG00000149654						233.0	209.0	217.0					20																	44815523		2203	4300	6503	CDH22	SO:0001583	missense	0			-	HGNC	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1487C>A	20.37:g.44815523G>T	ENSP00000361336:p.Pro496His	Somatic	0	42	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B9EGK7|O43205	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P496H	ENST00000372262.3	37	c.1487	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862848	0.71949	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.61040	0.14;0.14	4.12	4.12	0.48240	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.200069	0.43747	D	0.000531	T	0.64338	0.2589	M	0.80422	2.495	0.53688	D	0.99997	P	0.46020	0.871	B	0.43916	0.436	T	0.74194	-0.3744	10	0.87932	D	0	.	15.5603	0.76240	0.0:0.0:1.0:0.0	.	496	Q9UJ99	CAD22_HUMAN	H	496	ENSP00000361336:P496H;ENSP00000437790:P496H	ENSP00000361336:P496H	P	-	2	0	CDH22	44248930	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.722000	0.84778	2.151000	0.67156	0.442000	0.29010	CCC	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	protein_coding	OTTHUMT00000080491.1	G	NM_021248	-		44815523	-1	no_errors	ENST00000372262	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM111B	374393	genome.wustl.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-AB2H-01A-11D-A38Z-09	TCGA-DX-AB2H-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d85c9a-bd66-46f7-b1c3-9554056923aa	d6e07cf0-90ff-4c30-a9f5-733751378913	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																																	3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(2)|ovary(1)						ENSG00000189057																																			FAM111B	SO:0001589	frameshift_variant	0				HGNC	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs	Somatic	0	52	0.00		0.7584819870290329	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	B4E2G2|Q6P661	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	superfamily_Trypsin-like_Pept_dom	p.K272fs	ENST00000343597.3	37	c.807	CCDS7972.1	11																																																																																			-	NULL		0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	protein_coding	OTTHUMT00000393974.1	A	NM_198947			58892377	+1	no_errors	ENST00000343597	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
