#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
IK	3550	genome.wustl.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																																	0								ENSG00000113141																																			IK	SO:0001589	frameshift_variant	0				HGNC	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs	Somatic	0	50	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q6IPD8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RED_N,pfam_RED_C	p.R93fs	ENST00000417647.2	37	c.268_269	CCDS47280.1	5																																																																																			-	pfam_RED_N		0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	IK	protein_coding	OTTHUMT00000372897.1	GA	NM_006083			140032594	+1	no_errors	ENST00000417647	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-
MOK	5891	genome.wustl.edu	37	14	102718302	102718303	+	Frame_Shift_Ins	INS	-	-	T	rs145834415	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:102718302_102718303insT	ENST00000361847.2	-	5	544_545	c.313_314insA	c.(313-315)attfs	p.I105fs	MOK_ENST00000524214.1_Frame_Shift_Ins_p.I75fs|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Frame_Shift_Ins_p.I105fs	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										ATAGTGCATAATTTTTTTTTCT	0.322																																																	0								ENSG00000080823																																			MOK	SO:0001589	frameshift_variant	0				HGNC	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.314dupA	14.37:g.102718311_102718311dupT	ENSP00000355304:p.Ile105fs	Somatic	0	34	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I105fs	ENST00000361847.2	37	c.314_313	CCDS9971.1	14																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.322	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	protein_coding	OTTHUMT00000380848.3	-				102718303	-1	no_errors	ENST00000361847	ensembl	human	known	74_37	frame_shift_ins	INS	0.044:0.007	T
TBL1Y	90665	genome.wustl.edu	37	Y	6938362	6938362	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrY:6938362G>T	ENST00000383032.1	+	9	1230	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.A195S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.A195S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TGATTTGCTAGCCTCTGGGTA	0.567																																																	0								ENSG00000092377						73.0	73.0	73.0					Y																	6938362		599	1944	2543	TBL1Y	SO:0001583	missense	0			-	HGNC	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.583G>T	Y.37:g.6938362G>T	ENSP00000372499:p.Ala195Ser	Somatic	0	63	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A1L4B3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A195S	ENST00000383032.1	37	c.583	CCDS14779.1	Y																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.567	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1Y	protein_coding	OTTHUMT00000085360.1	G	NM_033284	-		6938362	+1	no_errors	ENST00000346432	ensembl	human	known	74_37	missense	SNP	1.000	T
PBLD	64081	genome.wustl.edu	37	10	70056109	70056109	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:70056109delC	ENST00000358769.2	-	4	399	c.197delG	c.(196-198)ggafs	p.G66fs	PBLD_ENST00000336578.1_Frame_Shift_Del_p.G33fs|PBLD_ENST00000495025.2_Frame_Shift_Del_p.G66fs|PBLD_ENST00000432941.1_Frame_Shift_Del_p.G66fs|PBLD_ENST00000309049.4_Frame_Shift_Del_p.G66fs	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	66					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCATCTCAGTCCAAAGCAGGA	0.453																																																	0								ENSG00000108187						46.0	46.0	46.0					10																	70056109		2203	4300	6503	PBLD	SO:0001589	frameshift_variant	0				HGNC	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.197delG	10.37:g.70056109delC	ENSP00000351619:p.Gly66fs	Somatic	0	44	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	A8MZJ3|C9JIM0|Q9HCC2	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.G66fs	ENST00000358769.2	37	c.197	CCDS7277.2	10																																																																																			-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.453	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	protein_coding	OTTHUMT00000048314.1	C	NM_022129			70056109	-1	no_errors	ENST00000309049	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
DOCK7	85440	genome.wustl.edu	37	1	63009394	63009394	+	Missense_Mutation	SNP	C	C	G	rs376417713		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:63009394C>G	ENST00000340370.5	-	23	2806	c.2789G>C	c.(2788-2790)cGt>cCt	p.R930P	DOCK7_ENST00000251157.5_Missense_Mutation_p.R961P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	961					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CGAAGACATACGATTACAACT	0.398																																																	0								ENSG00000116641						134.0	122.0	126.0					1																	63009394		2203	4300	6503	DOCK7	SO:0001583	missense	0			-	HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2789G>C	1.37:g.63009394C>G	ENSP00000340742:p.Arg930Pro	Somatic	0	68	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	50	10.71	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.R961P	ENST00000340370.5	37	c.2882	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684541	0.68157	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.24723	1.84;1.84	5.3	5.3	0.74995	.	0.059391	0.64402	D	0.000001	T	0.42268	0.1195	L	0.53249	1.67	0.80722	D	1	D;P;D;D;P	0.59767	0.963;0.881;0.986;0.986;0.923	P;B;P;P;P	0.55824	0.614;0.408;0.785;0.706;0.479	T	0.08597	-1.0714	10	0.44086	T	0.13	.	19.136	0.93428	0.0:1.0:0.0:0.0	.	961;930;930;930;961	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	P	961;961;930	ENSP00000251157:R961P;ENSP00000340742:R930P	ENSP00000251157:R961P	R	-	2	0	DOCK7	62781982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.754000	0.94517	0.650000	0.86243	CGT	-	NULL		0.398	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	C	NM_033407	-		63009394	-1	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	SNP	1.000	G
KLC3	147700	genome.wustl.edu	37	19	45849840	45849840	+	Missense_Mutation	SNP	G	G	T	rs368201163		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr19:45849840G>T	ENST00000391946.2	+	3	399	c.297G>T	c.(295-297)gaG>gaT	p.E99D	KLC3_ENST00000470402.1_Missense_Mutation_p.E113D|KLC3_ENST00000585434.1_Missense_Mutation_p.E99D	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	99					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GTGCACTGGAGGCAGAGAAGC	0.716																																																	0								ENSG00000104892						6.0	9.0	8.0					19																	45849840		1884	3874	5758	KLC3	SO:0001583	missense	0			-	HGNC	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.297G>T	19.37:g.45849840G>T	ENSP00000375810:p.Glu99Asp	Somatic	0	26	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	4	80.00	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E113D	ENST00000391946.2	37	c.339	CCDS12660.2	19	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925470	0.73213	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	T;T	0.48522	0.81;0.81	3.77	3.77	0.43336	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000002	T	0.52709	0.1751	N	0.25485	0.75	0.58432	D	0.999998	D;D;D	0.67145	0.99;0.996;0.992	D;D;D	0.77004	0.98;0.986;0.989	T	0.49399	-0.8944	10	0.32370	T	0.25	-12.4471	13.4628	0.61237	0.0:0.0:1.0:0.0	.	99;113;99	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	D	99;113	ENSP00000375810:E99D;ENSP00000436019:E113D	ENSP00000375810:E99D	E	+	3	2	KLC3	50541680	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.126000	0.42026	2.113000	0.64589	0.455000	0.32223	GAG	-	pfam_Rabaptin_Rab5-bd_dom		0.716	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	protein_coding	OTTHUMT00000289776.1	G	NM_145275	-		45849840	+1	no_errors	ENST00000470402	ensembl	human	known	74_37	missense	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32407760	32407760	+	Missense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrX:32407760C>T	ENST00000357033.4	-	32	4582	c.4376G>A	c.(4375-4377)cGa>cAa	p.R1459Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1455Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1459	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGGAATAATCGAAACTTCAT	0.348																																																	0								ENSG00000198947						104.0	92.0	96.0					X																	32407760		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4376G>A	X.37:g.32407760C>T	ENSP00000354923:p.Arg1459Gln	Somatic	0	35	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	0	100.00	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R1459Q	ENST00000357033.4	37	c.4376	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140583	0.56936	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.15256	2.44;2.44	5.67	4.81	0.61882	.	0.000000	0.31519	U	0.007510	T	0.14917	0.0360	L	0.35723	1.085	0.80722	D	1	D;P;P;P;P	0.55800	0.973;0.73;0.954;0.954;0.954	B;B;B;B;B	0.43950	0.437;0.181;0.253;0.253;0.253	T	0.04650	-1.0936	10	0.10636	T	0.68	.	13.938	0.64036	0.0:0.9251:0.0:0.0749	.	1451;1459;1455;118;115	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	1451;118;115;1455;1459;1459;1336	ENSP00000367948:R1455Q;ENSP00000354923:R1459Q	ENSP00000354923:R1459Q	R	-	2	0	DMD	32317681	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.850000	0.69473	1.157000	0.42530	0.594000	0.82650	CGA	-	pirsf_Dystrophin/utrophin		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	C	NM_004006	-		32407760	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	T
ELMO1	9844	genome.wustl.edu	37	7	37354520	37354520	+	Silent	SNP	A	A	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:37354520A>T	ENST00000310758.4	-	4	773	c.126T>A	c.(124-126)tcT>tcA	p.S42S	ELMO1_ENST00000442504.1_Silent_p.S42S|ELMO1_ENST00000448602.1_Silent_p.S42S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	42					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTTGGCAAGAGACCACCTTA	0.343																																																	0								ENSG00000155849						90.0	86.0	87.0					7																	37354520		2203	4300	6503	ELMO1	SO:0001819	synonymous_variant	0			-	HGNC	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.126T>A	7.37:g.37354520A>T		Somatic	0	45	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S42	ENST00000310758.4	37	c.126	CCDS5449.1	7																																																																																			-	NULL		0.343	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	protein_coding	OTTHUMT00000219830.4	A	NM_130442	-		37354520	-1	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	SNP	0.981	T
ERC2	26059	genome.wustl.edu	37	3	55542496	55542496	+	3'UTR	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:55542496T>C	ENST00000288221.6	-	0	5977				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCCCACTGGTAGTTTCCAGG	0.363																																																	0								ENSG00000187672																																			ERC2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*2848A>G	3.37:g.55542496T>C		Somatic	0	34	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q2T9F6|Q86TK4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			-	-		0.363	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	protein_coding	OTTHUMT00000350884.2	T	NM_015576	-		55542496	-1	no_errors	ENST00000486496	ensembl	human	known	74_37	rna	SNP	1.000	C
SORBS2	8470	genome.wustl.edu	37	4	186544640	186544642	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	TGG	TGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:186544640_186544642delTGG	ENST00000284776.7	-	13	2438_2440	c.1929_1931delCCA	c.(1927-1932)caccat>cat	p.643_644HH>H	SORBS2_ENST00000418609.1_In_Frame_Del_p.547_548HH>H|SORBS2_ENST00000431808.1_In_Frame_Del_p.643_644HH>H|SORBS2_ENST00000355634.5_In_Frame_Del_p.743_744HH>H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	643	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		gtggtggtgatggtggtggtggt	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)												0								ENSG00000154556																																			SORBS2	SO:0001651	inframe_deletion	0				HGNC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1929_1931delCCA	4.37:g.186544649_186544651delTGG	ENSP00000284776:p.His650del	Somatic	0	33	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.H647in_frame_del	ENST00000284776.7	37	c.1931_1929	CCDS3845.1	4																																																																																			-	NULL		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	TGG	NM_003603			186544642	-1	no_errors	ENST00000284776	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.997	-
CENPE	1062	genome.wustl.edu	37	4	104070553	104070553	+	Missense_Mutation	SNP	G	G	C	rs75617708		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:104070553G>C	ENST00000265148.3	-	27	3498	c.3409C>G	c.(3409-3411)Caa>Gaa	p.Q1137E	CENPE_ENST00000380026.3_Missense_Mutation_p.Q1112E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1137					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTTCTTGGAGTTGCTGG	0.294																																																	0								ENSG00000138778						41.0	40.0	40.0					4																	104070553		2202	4289	6491	CENPE	SO:0001583	missense	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3409C>G	4.37:g.104070553G>C	ENSP00000265148:p.Gln1137Glu	Somatic	0	49	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1137E	ENST00000265148.3	37	c.3409	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872614	0.17322	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.68624	-0.34;-0.34	4.0	2.16	0.27623	.	.	.	.	.	T	0.59101	0.2169	L	0.60455	1.87	0.33166	D	0.547603	B;P	0.39391	0.041;0.671	B;B	0.38712	0.019;0.28	T	0.61734	-0.7002	9	0.20519	T	0.43	.	10.1788	0.42955	0.0:0.368:0.632:0.0	.	1112;1137	Q02224-3;Q02224	.;CENPE_HUMAN	E	1137;1137;1112	ENSP00000265148:Q1137E;ENSP00000369365:Q1112E	ENSP00000265148:Q1137E	Q	-	1	0	CENPE	104290002	0.156000	0.22821	0.992000	0.48379	0.997000	0.91878	0.751000	0.26348	0.399000	0.25367	0.591000	0.81541	CAA	-	NULL		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		G		-		104070553	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	SNP	0.998	C
C9orf89	84270	genome.wustl.edu	37	9	95858556	95858578	+	5'UTR	DEL	GCGGCTGACCGAGGGGCGGACGC	GCGGCTGACCGAGGGGCGGACGC	-	rs552969977|rs571338687|rs181987489	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	GCGGCTGACCGAGGGGCGGACGC	GCGGCTGACCGAGGGGCGGACGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:95858556_95858578delGCGGCTGACCGAGGGGCGGACGC	ENST00000375464.2	+	0	57_79				RP11-274J16.5_ENST00000428958.1_RNA	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89						negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GGTGGACCGGGCGGCTGACCGAGGGGCGGACGCGCGGCGGGGC	0.771														7	0.00139776	0.0	0.0014	5008	,	,		8455	0.0		0.005	False		,,,				2504	0.001																0								ENSG00000165233			8,1228		3,2,613						0.4	0.0		dbSNP_131	2	53,2601		18,17,1292	no	utr-5	C9orf89	NM_032310.3		21,19,1905	A1A1,A1R,RR		1.997,0.6472,1.5681				61,3829				C9orf89	SO:0001623	5_prime_UTR_variant	0				HGNC	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.-50GCGGCTGACCGAGGGGCGGACGC>-	9.37:g.95858556_95858578delGCGGCTGACCGAGGGGCGGACGC		Somatic	NA	NA	NA		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5BJH8|Q9BSY2	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000375464.2	37	NULL	CCDS6702.2	9																																																																																			-	-		0.771	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf89	protein_coding	OTTHUMT00000053128.1	GCGGCTGACCGAGGGGCGGACGC	NM_032310			95858578	+1	no_errors	ENST00000466929	ensembl	human	known	74_37	rna	DEL	0.003:0.004:0.035:0.032:0.046:0.041:0.061:0.056:0.031:0.001:0.000:0.001:0.005:0.013:0.011:0.008:0.007:0.004:0.005:0.000:0.000:0.000:0.000	-
KAT6A	7994	genome.wustl.edu	37	8	41801450	41801450	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:41801450G>T	ENST00000396930.3	-	14	2587	c.2044C>A	c.(2044-2046)Ccg>Acg	p.P682T	KAT6A_ENST00000265713.2_Missense_Mutation_p.P682T|KAT6A_ENST00000485568.1_Missense_Mutation_p.P682T|KAT6A_ENST00000406337.1_Missense_Mutation_p.P682T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	682	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCAGATAACGGTTTCTCTGGA	0.393																																																	0								ENSG00000083168						119.0	102.0	108.0					8																	41801450		2203	4300	6503	KAT6A	SO:0001583	missense	0			-	HGNC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2044C>A	8.37:g.41801450G>T	ENSP00000380136:p.Pro682Thr	Somatic	0	62	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q76L81	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P682T	ENST00000396930.3	37	c.2044	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906399	0.52333	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	D;D;D;D	0.97688	-2.56;-2.56;-2.56;-4.49	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.97491	4.015	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.98635	1.0673	10	0.87932	D	0	-14.0835	20.3931	0.98965	0.0:0.0:1.0:0.0	.	682;682	A5PLL3;Q92794	.;KAT6A_HUMAN	T	682;682;682;262;682	ENSP00000265713:P682T;ENSP00000385888:P682T;ENSP00000380136:P682T;ENSP00000430606:P682T	ENSP00000265713:P682T	P	-	1	0	KAT6A	41920607	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	CCG	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase		0.393	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	protein_coding	OTTHUMT00000318163.1	G	NM_006766	-		41801450	-1	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	SNP	1.000	T
GCN1L1	10985	genome.wustl.edu	37	12	120569000	120569000	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:120569000T>C	ENST00000300648.6	-	55	7564	c.7552A>G	c.(7552-7554)Acg>Gcg	p.T2518A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2518					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTCCGCCGTGGCACTGCTC	0.592																																																	0								ENSG00000089154						74.0	79.0	78.0					12																	120569000		2113	4216	6329	GCN1L1	SO:0001583	missense	0			-	HGNC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7552A>G	12.37:g.120569000T>C	ENSP00000300648:p.Thr2518Ala	Somatic	0	64	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T2518A	ENST00000300648.6	37	c.7552	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	5.235	0.228807	0.09916	.	.	ENSG00000089154	ENST00000300648	T	0.32515	1.45	5.04	0.283	0.15696	Armadillo-type fold (1);	0.500789	0.20576	N	0.089633	T	0.13884	0.0336	N	0.24115	0.695	0.42596	D	0.993267	B	0.02656	0.0	B	0.01281	0.0	T	0.21586	-1.0241	10	0.06757	T	0.87	-0.9807	5.8908	0.18911	0.0:0.4311:0.1465:0.4224	.	2518	Q92616	GCN1L_HUMAN	A	2518	ENSP00000300648:T2518A	ENSP00000300648:T2518A	T	-	1	0	GCN1L1	119053383	0.584000	0.26766	0.885000	0.34714	0.854000	0.48673	0.749000	0.26320	0.085000	0.17107	0.528000	0.53228	ACG	-	superfamily_ARM-type_fold		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	T		-		120569000	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	SNP	0.978	C
GALK1	2584	genome.wustl.edu	37	17	73759480	73759480	+	Silent	SNP	T	T	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:73759480T>G	ENST00000588479.1	-	3	970	c.396A>C	c.(394-396)tcA>tcC	p.S132S	GALK1_ENST00000225614.2_Silent_p.S132S|GALK1_ENST00000437911.1_Silent_p.S162S			P51570	GALK1_HUMAN	galactokinase 1	132					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGGGGCACTGAGCTGACCA	0.642																																																	0								ENSG00000108479						33.0	26.0	28.0					17																	73759480		2203	4300	6503	GALK1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.396A>C	17.37:g.73759480T>G		Somatic	0	78	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	57	27.85	B2RC07|B4E1G6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase	p.S162	ENST00000588479.1	37	c.486	CCDS11728.1	17																																																																																			-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase		0.642	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	GALK1	protein_coding	OTTHUMT00000448430.1	T		-		73759480	-1	no_errors	ENST00000437911	ensembl	human	known	74_37	silent	SNP	0.994	G
HAX1	10456	genome.wustl.edu	37	1	154245819	154245819	+	Missense_Mutation	SNP	G	G	T	rs541476988		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:154245819G>T	ENST00000328703.7	+	2	274	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	HAX1_ENST00000483970.2_Missense_Mutation_p.D21Y|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	21	Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCCACAGAGATCCCTTTTT	0.498									Kostmann syndrome																																								0								ENSG00000143575						71.0	71.0	71.0					1																	154245819		2203	4300	6503	HAX1	SO:0001583	missense	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	-	HGNC	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.61G>T	1.37:g.154245819G>T	ENSP00000329002:p.Asp21Tyr	Somatic	0	41	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_HS1--assoc_X-1	p.D21Y	ENST00000328703.7	37	c.61	CCDS1064.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402139	0.83230	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.46063	0.88;0.88;0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65709	-0.6102	10	0.87932	D	0	-18.0087	16.6433	0.85138	0.0:0.0:1.0:0.0	.	21;21	O00165-2;O00165	.;HAX1_HUMAN	Y	21	ENSP00000329002:D21Y;ENSP00000435088:D21Y;ENSP00000394920:D21Y	ENSP00000329002:D21Y	D	+	1	0	HAX1	152512443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.910000	0.63321	2.776000	0.95493	0.655000	0.94253	GAT	-	pirsf_HS1--assoc_X-1		0.498	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	protein_coding	OTTHUMT00000087650.1	G	NM_006118	-		154245819	+1	no_errors	ENST00000483970	ensembl	human	known	74_37	missense	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	128817029	128817029	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:128817029G>T	ENST00000280333.6	+	13	1303	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	398					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCCGAAAAGAGTTTCCGCATT	0.443																																																	0								ENSG00000150760						71.0	72.0	72.0					10																	128817029		1891	4108	5999	DOCK1	SO:0001583	missense	0			-	HGNC	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1194G>T	10.37:g.128817029G>T	ENSP00000280333:p.Glu398Asp	Somatic	0	60	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A9Z1Z5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.E398D	ENST00000280333.6	37	c.1194		10	.	.	.	.	.	.	.	.	.	.	G	4.961	0.178581	0.09443	.	.	ENSG00000150760	ENST00000280333	T	0.04275	3.66	4.32	1.21	0.21127	.	0.054079	0.64402	D	0.000001	T	0.03220	0.0094	N	0.21545	0.675	0.41534	D	0.988472	B;B	0.09022	0.002;0.0	B;B	0.17979	0.02;0.002	T	0.48864	-0.8997	10	0.19590	T	0.45	.	8.2955	0.31982	0.4257:0.0:0.5743:0.0	.	398;398	B2RUU3;Q14185	.;DOCK1_HUMAN	D	398	ENSP00000280333:E398D	ENSP00000280333:E398D	E	+	3	2	DOCK1	128707019	0.983000	0.35010	0.993000	0.49108	0.969000	0.65631	0.177000	0.16801	0.402000	0.25451	0.557000	0.71058	GAG	-	NULL		0.443	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	protein_coding	OTTHUMT00000050979.2	G	NM_001380	-		128817029	+1	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	SNP	0.997	T
NUDT17	200035	genome.wustl.edu	37	1	145588455	145588455	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:145588455G>T	ENST00000334513.5	-	4	429	c.418C>A	c.(418-420)Ctt>Att	p.L140I	NUDT17_ENST00000444015.2_5'UTR	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	140	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGTTCTCGAAGCCCTCCGTCC	0.587											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000186364						65.0	66.0	66.0					1																	145588455		2203	4300	6503	NUDT17	SO:0001583	missense	0			-	HGNC	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.418C>A	1.37:g.145588455G>T	ENSP00000334437:p.Leu140Ile	Somatic	0	53	0.00	1695	0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L140I	ENST00000334513.5	37	c.418	CCDS30830.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.624|9.624	1.134572|1.134572	0.21123|0.21123	.|.	.|.	ENSG00000186364|ENSG00000186364	ENST00000444015|ENST00000334513	.|T	.|0.08546	.|3.08	4.27|4.27	2.34|2.34	0.29019|0.29019	.|NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	.|0.076921	.|0.51477	.|D	.|0.000096	T|T	0.03520|0.03520	0.0101|0.0101	N|N	0.21194|0.21194	0.64|0.64	0.09310|0.09310	N|N	1|1	.|D	.|0.57257	.|0.979	.|P	.|0.53689	.|0.732	T|T	0.35549|0.35549	-0.9784|-0.9784	5|10	.|0.46703	.|T	.|0.11	-3.0538|-3.0538	6.9616|6.9616	0.24599|0.24599	0.2176:0.0:0.7824:0.0|0.2176:0.0:0.7824:0.0	.|.	.|140	.|P0C025	.|NUD17_HUMAN	D|I	33|140	.|ENSP00000334437:L140I	.|ENSP00000334437:L140I	A|L	-|-	2|1	0|0	NUDT17|NUDT17	144299812|144299812	0.996000|0.996000	0.38824|0.38824	0.036000|0.036000	0.18154|0.18154	0.005000|0.005000	0.04900|0.04900	3.997000|3.997000	0.57016|0.57016	0.412000|0.412000	0.25729|0.25729	-0.140000|-0.140000	0.14226|0.14226	GCT|CTT	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.587	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT17	protein_coding	OTTHUMT00000038541.3	G	XM_496395	-		145588455	-1	no_errors	ENST00000334513	ensembl	human	known	74_37	missense	SNP	0.064	T
MTMR12	54545	genome.wustl.edu	37	5	32312936	32312936	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:32312936delC	ENST00000382142.3	-	1	179	c.9delG	c.(7-9)gggfs	p.G3fs	MTMR12_ENST00000264934.5_Frame_Shift_Del_p.G3fs|MTMR12_ENST00000280285.5_Frame_Shift_Del_p.G3fs	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	3						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTACTCCTTTCCCCAGCATAC	0.746																																																	0								ENSG00000150712						20.0	21.0	21.0					5																	32312936		2158	4239	6397	MTMR12	SO:0001589	frameshift_variant	0				HGNC	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.9delG	5.37:g.32312936delC	ENSP00000371577:p.Gly3fs	Somatic	0	19	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Myotubularin_assoc	p.G5fs	ENST00000382142.3	37	c.9	CCDS34138.1	5																																																																																			-	NULL		0.746	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	protein_coding	OTTHUMT00000366579.1	C	NM_019061			32312936	-1	no_errors	ENST00000382142	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
CYP3A4	1576	genome.wustl.edu	37	7	99361514	99361514	+	Missense_Mutation	SNP	T	T	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:99361514T>G	ENST00000336411.2	-	10	1173	c.990A>C	c.(988-990)aaA>aaC	p.K330N	CYP3A4_ENST00000354593.2_Missense_Mutation_p.K180N|RP11-757A13.1_ENST00000608397.1_RNA	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	330					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CCTCCTGCAGTTTCTGCTGGA	0.453																																																	0								ENSG00000160868						73.0	66.0	68.0					7																	99361514		2203	4300	6503	CYP3A4	SO:0001583	missense	0			-	HGNC	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.990A>C	7.37:g.99361514T>G	ENSP00000337915:p.Lys330Asn	Somatic	0	113	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	68	8.00	P05184|Q16757|Q9UK50	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.K330N	ENST00000336411.2	37	c.990	CCDS5674.1	7	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333348	0.60853	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.73258	-0.73;-0.73	4.62	-0.696	0.11287	.	0.046546	0.85682	D	0.000000	T	0.73799	0.3633	M	0.90542	3.125	0.49051	D	0.999748	P;P;P;P;P	0.49253	0.808;0.85;0.921;0.921;0.921	B;P;P;P;P	0.45506	0.366;0.483;0.468;0.468;0.468	T	0.73275	-0.4034	10	0.72032	D	0.01	.	8.1909	0.31368	0.0:0.3879:0.0:0.6121	.	180;257;330;330;330	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	N	180;330	ENSP00000346607:K180N;ENSP00000337915:K330N	ENSP00000337915:K330N	K	-	3	2	CYP3A4	99199450	0.021000	0.18746	0.970000	0.41538	0.932000	0.56968	-0.737000	0.04877	-0.398000	0.07679	0.459000	0.35465	AAA	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.453	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A4	protein_coding	OTTHUMT00000345059.1	T		-		99361514	-1	no_errors	ENST00000336411	ensembl	human	known	74_37	missense	SNP	0.993	G
UROD	7389	genome.wustl.edu	37	1	45479716	45479716	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:45479716G>T	ENST00000246337.4	+	6	729	c.610G>T	c.(610-612)Gta>Tta	p.V204L	UROD_ENST00000494399.1_3'UTR|HECTD3_ENST00000372172.4_5'Flank	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	204					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCCATATCTGGTAGGACAAGT	0.547									Porphyria Cutanea Tarda, Type II																																								0								ENSG00000126088						82.0	86.0	85.0					1																	45479716		2203	4300	6503	UROD	SO:0001583	missense	0	Familial Cancer Database	PCT-II	-	HGNC	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.610G>T	1.37:g.45479716G>T	ENSP00000246337:p.Val204Leu	Somatic	0	44	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	32	8.57	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE	p.V204L	ENST00000246337.4	37	c.610	CCDS518.1	1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621545	0.28889	.	.	ENSG00000126088	ENST00000246337;ENST00000434478;ENST00000372135	D;D	0.94092	-3.35;-3.35	5.22	3.34	0.38264	Uroporphyrinogen decarboxylase (URO-D) (1);	0.187983	0.47093	D	0.000246	D	0.87521	0.6198	N	0.25201	0.72	0.38685	D	0.952634	B;B	0.13145	0.007;0.0	B;B	0.24269	0.052;0.001	T	0.82701	-0.0327	10	0.45353	T	0.12	-17.0029	11.0846	0.48080	0.1394:0.0:0.8606:0.0	.	148;204	B4DEM5;P06132	.;DCUP_HUMAN	L	204;183;183	ENSP00000246337:V204L;ENSP00000404489:V183L	ENSP00000246337:V204L	V	+	1	0	UROD	45252303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.356000	0.44116	0.769000	0.33313	0.650000	0.86243	GTA	-	pfam_Uroporphyrinogen_deCOase,tigrfam_Uroporphyrinogen_deCO2ase_HemE		0.547	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	protein_coding	OTTHUMT00000024803.1	G	NM_000374	-		45479716	+1	no_errors	ENST00000246337	ensembl	human	known	74_37	missense	SNP	1.000	T
MORC1	27136	genome.wustl.edu	37	3	108698399	108698399	+	Missense_Mutation	SNP	C	C	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:108698399C>G	ENST00000483760.1	-	23	2420	c.2377G>C	c.(2377-2379)Gtc>Ctc	p.V793L	MORC1_ENST00000232603.5_Missense_Mutation_p.V814L					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTTCCTTGACAGGTGTGCTT	0.403																																																	0								ENSG00000114487						118.0	121.0	120.0					3																	108698399		2203	4300	6503	MORC1	SO:0001583	missense	0			-	HGNC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2377G>C	3.37:g.108698399C>G	ENSP00000417282:p.Val793Leu	Somatic	0	39	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.V814L	ENST00000483760.1	37	c.2440		3	.	.	.	.	.	.	.	.	.	.	C	6.889	0.533432	0.13188	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.08634	3.13;3.07	5.29	2.52	0.30459	.	1.066770	0.07389	N	0.888805	T	0.06142	0.0159	L	0.32530	0.975	0.09310	N	0.999991	P;P	0.37441	0.595;0.595	B;B	0.31016	0.123;0.123	T	0.41233	-0.9520	10	0.18276	T	0.48	-2.9732	7.3776	0.26837	0.0:0.7302:0.0:0.2698	.	793;814	E7ERX1;Q86VD1	.;MORC1_HUMAN	L	814;793	ENSP00000232603:V814L;ENSP00000417282:V793L	ENSP00000232603:V814L	V	-	1	0	MORC1	110181089	0.002000	0.14202	0.227000	0.23927	0.089000	0.18198	-0.258000	0.08733	0.374000	0.24650	0.655000	0.94253	GTC	-	NULL		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	C		-		108698399	-1	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	SNP	0.331	G
KLHL21	9903	genome.wustl.edu	37	1	6659372	6659372	+	Missense_Mutation	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:6659372C>A	ENST00000377658.4	-	2	1213	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	KLHL21_ENST00000467612.1_Missense_Mutation_p.A21S|KLHL21_ENST00000377663.3_Missense_Mutation_p.A388S|KLHL21_ENST00000463043.1_Missense_Mutation_p.A21S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	388					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGTCGGCGGCCACCACGTAC	0.642																																																	0								ENSG00000162413						111.0	101.0	105.0					1																	6659372		2203	4300	6503	KLHL21	SO:0001583	missense	0			-	HGNC	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1162G>T	1.37:g.6659372C>A	ENSP00000366886:p.Ala388Ser	Somatic	0	15	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A388S	ENST00000377658.4	37	c.1162	CCDS30575.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959829	0.74016	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.78003	-1.14;-1.14	5.14	5.14	0.70334	Galactose oxidase, beta-propeller (1);	0.050572	0.85682	D	0.000000	T	0.77491	0.4138	L	0.33245	0.995	0.80722	D	1	B;D	0.55385	0.058;0.971	B;P	0.50934	0.056;0.654	T	0.80854	-0.1196	10	0.87932	D	0	.	17.9782	0.89132	0.0:1.0:0.0:0.0	.	388;388	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	S	388	ENSP00000366886:A388S;ENSP00000366891:A388S	ENSP00000366886:A388S	A	-	1	0	KLHL21	6581959	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	7.818000	0.86416	2.557000	0.86248	0.655000	0.94253	GCC	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.642	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL21	protein_coding	OTTHUMT00000004188.1	C	NM_014851	-		6659372	-1	no_errors	ENST00000377658	ensembl	human	known	74_37	missense	SNP	1.000	A
TMA16	55319	genome.wustl.edu	37	4	164415938	164415938	+	5'UTR	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:164415938C>T	ENST00000358572.5	+	0	326				TMA16_ENST00000513272.1_5'UTR|TMA16_ENST00000513134.1_5'UTR|TMA16_ENST00000508268.1_5'UTR|TMA16_ENST00000511562.1_3'UTR	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)							nucleus (GO:0005634)											TGCTCCGTGGCCACGAGGACG	0.662																																																	0								ENSG00000198498						54.0	64.0	60.0					4																	164415938		2095	4217	6312	TMA16	SO:0001623	5_prime_UTR_variant	0			-	HGNC		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.-16C>T	4.37:g.164415938C>T		Somatic	0	119	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50	Q0P6E4|Q0P6J1|Q9NUR7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000358572.5	37	NULL	CCDS43278.1	4																																																																																			-	-		0.662	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMA16	protein_coding	OTTHUMT00000365208.1	C	NM_018352	-		164415938	+1	no_errors	ENST00000511562	ensembl	human	known	74_37	rna	SNP	0.002	T
DHH	50846	genome.wustl.edu	37	12	49488079	49488079	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:49488079G>T	ENST00000266991.2	-	1	523	c.217C>A	c.(217-219)Cgc>Agc	p.R73S	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	73					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						TCCCGGAAGCGCTCGGAGCCC	0.652																																																	0								ENSG00000139549						71.0	69.0	70.0					12																	49488079		2203	4300	6503	DHH	SO:0001583	missense	0			-	HGNC	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.217C>A	12.37:g.49488079G>T	ENSP00000266991:p.Arg73Ser	Somatic	0	32	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q15794	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.R73S	ENST00000266991.2	37	c.217	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	g	23.3	4.402951	0.83230	.	.	ENSG00000139549	ENST00000266991	D	0.99488	-6.0	5.44	5.44	0.79542	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.054750	0.64402	D	0.000001	D	0.99432	0.9799	M	0.89968	3.075	0.47308	D	0.999385	D	0.64830	0.994	P	0.57620	0.824	D	0.98452	1.0592	10	0.87932	D	0	-11.3725	13.1172	0.59307	0.0:0.0:0.8395:0.1605	.	73	O43323	DHH_HUMAN	S	73	ENSP00000266991:R73S	ENSP00000266991:R73S	R	-	1	0	DHH	47774346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.703000	0.37846	2.570000	0.86706	0.552000	0.68991	CGC	-	pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog		0.652	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	protein_coding	OTTHUMT00000408973.1	G	NM_021044	-		49488079	-1	no_errors	ENST00000266991	ensembl	human	known	74_37	missense	SNP	1.000	T
PLD4	122618	genome.wustl.edu	37	14	105398613	105398613	+	Silent	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:105398613G>T	ENST00000392593.4	+	10	1410	c.1242G>T	c.(1240-1242)ccG>ccT	p.P414P	PLD4_ENST00000553861.1_5'UTR|PLD4_ENST00000540372.1_Silent_p.P421P	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	414					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			TCATCGTGCCGGTGGGGAACC	0.622																																																	0								ENSG00000166428						47.0	53.0	51.0					14																	105398613		2101	4215	6316	PLD4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1242G>T	14.37:g.105398613G>T		Somatic	0	107	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	57	8.06	Q6UWD2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.P414	ENST00000392593.4	37	c.1242	CCDS9995.2	14																																																																																			-	NULL		0.622	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	protein_coding	OTTHUMT00000291348.2	G	NM_138790	-		105398613	+1	no_errors	ENST00000392593	ensembl	human	known	74_37	silent	SNP	0.017	T
KCNH8	131096	genome.wustl.edu	37	3	19492831	19492831	+	Missense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:19492831C>T	ENST00000328405.2	+	10	2026	c.1760C>T	c.(1759-1761)gCc>gTc	p.A587V	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	587					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCTTTGCAGGCCATCTACTTT	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)												0								ENSG00000183960						89.0	91.0	90.0					3																	19492831		2203	4300	6503	KCNH8	SO:0001583	missense	0			-	HGNC	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1760C>T	3.37:g.19492831C>T	ENSP00000328813:p.Ala587Val	Somatic	0	63	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.A587V	ENST00000328405.2	37	c.1760	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.653038	0.96724	.	.	ENSG00000183960	ENST00000328405	D	0.92699	-3.09	5.68	5.68	0.88126	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.31392	U	0.007734	D	0.96185	0.8756	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95571	0.8638	9	.	.	.	.	19.7897	0.96452	0.0:1.0:0.0:0.0	.	587	Q96L42	KCNH8_HUMAN	V	587	ENSP00000328813:A587V	.	A	+	2	0	KCNH8	19467835	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.694000	0.91930	0.467000	0.42956	GCC	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	C	NM_144633	-		19492831	+1	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	SNP	1.000	T
BNIP3L	665	genome.wustl.edu	37	8	26240684	26240686	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	ACA	ACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:26240684_26240686delACA	ENST00000380629.2	+	1	271_273	c.38_40delACA	c.(37-42)cacaac>cac	p.N18del	BNIP3L_ENST00000523515.1_5'Flank|SDAD1P1_ENST00000519902.1_RNA|BNIP3L_ENST00000520409.1_5'Flank	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	18					defense response to virus (GO:0051607)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		CCGCCCCTGCACAACAACAACAA	0.655																																																	0								ENSG00000104765																																			BNIP3L	SO:0001651	inframe_deletion	0				HGNC	AB004788	CCDS6050.1	8p21	2014-05-13	2002-08-29		ENSG00000104765	ENSG00000104765			1085	protein-coding gene	gene with protein product		605368	"""BCL2/adenovirus E1B 19kD-interacting protein 3-like"""			9523198, 9973195	Standard	NM_004331		Approved	Nix, BNIP3a	uc003xex.1	O60238	OTTHUMG00000099433	ENST00000380629.2:c.38_40delACA	8.37:g.26240693_26240695delACA	ENSP00000370003:p.Asn18del	Somatic	0	33	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B0AZS9|Q5JW63|Q8NF87	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_BNIP3	p.N17in_frame_del	ENST00000380629.2	37	c.38_40	CCDS6050.1	8																																																																																			-	NULL		0.655	BNIP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3L	protein_coding	OTTHUMT00000216895.1	ACA	NM_004331			26240686	+1	no_errors	ENST00000380629	ensembl	human	known	74_37	in_frame_del	DEL	0.999:1.000:1.000	-
SAMM50	25813	genome.wustl.edu	37	22	44395249	44395249	+	IGR	SNP	G	G	T	rs372081118		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr22:44395249G>T	ENST00000350028.4	+	0	1717				PARVB_ENST00000406477.3_Missense_Mutation_p.R10I	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GATCACCAAAGAGGAGAGAAA	0.363																																																	0								ENSG00000188677						66.0	62.0	63.0					22																	44395249		1829	4092	5921	PARVB	SO:0001628	intergenic_variant	0			-	HGNC	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557		22.37:g.44395249G>T		Somatic	0	77	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R10I	ENST00000350028.4	37	c.29	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539353	0.27475	.	.	ENSG00000188677	ENST00000406477	T	0.36340	1.26	2.15	-2.79	0.05841	.	.	.	.	.	T	0.19565	0.0470	N	0.22421	0.69	0.09310	N	1	B	0.27068	0.167	B	0.24848	0.056	T	0.22347	-1.0219	9	0.87932	D	0	.	3.3491	0.07146	0.4401:0.214:0.3459:0.0	.	10	Q9HBI1-2	.	I	10	ENSP00000384515:R10I	ENSP00000384515:R10I	R	+	2	0	PARVB	42726582	0.043000	0.20138	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	-0.622000	0.05626	-0.903000	0.02851	AGA	-	NULL		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000318898.2	G	NM_015380	-		44395249	+1	no_errors	ENST00000406477	ensembl	human	known	74_37	missense	SNP	0.000	T
CTNNA3	29119	genome.wustl.edu	37	10	68139076	68139076	+	Silent	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:68139076G>T	ENST00000433211.2	-	12	1740	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	CTNNA3_ENST00000373744.4_Silent_p.I522I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTAAGGCTATGATACACTTGT	0.423																																																	0								ENSG00000183230						121.0	122.0	121.0					10																	68139076		2203	4300	6503	CTNNA3	SO:0001819	synonymous_variant	0			-	HGNC	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1566C>A	10.37:g.68139076G>T		Somatic	0	57	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.I522	ENST00000433211.2	37	c.1566	CCDS7269.1	10																																																																																			-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.423	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	G	NM_013266	-		68139076	-1	no_errors	ENST00000373744	ensembl	human	known	74_37	silent	SNP	1.000	T
DOCK7	85440	genome.wustl.edu	37	1	62941103	62941104	+	Intron	INS	-	-	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:62941103_62941104insA	ENST00000340370.5	-	46	5886				DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000489185.1_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ACTGAAATTAGAAAAAAAAAAG	0.257																																																	0								ENSG00000116641																																			DOCK7	SO:0001627	intron_variant	0				HGNC		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5869-81->T	1.37:g.62941113_62941113dupA		Somatic	0	11	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000340370.5	37	NULL	CCDS30734.1	1																																																																																			-	-		0.257	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	protein_coding	OTTHUMT00000036806.1	-	NM_033407			62941104	-1	no_errors	ENST00000467758	ensembl	human	known	74_37	rna	INS	0.000:0.057	A
INHBA	3624	genome.wustl.edu	37	7	41729855	41729855	+	Missense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:41729855C>T	ENST00000242208.4	-	3	920	c.674G>A	c.(673-675)aGc>aAc	p.S225N	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.S225N	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	225					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|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)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTGGATGCTGCTGGAGACAGG	0.592										TSP Lung(11;0.080)																																							0								ENSG00000122641						55.0	53.0	54.0					7																	41729855		2203	4300	6503	INHBA	SO:0001583	missense	0			-	HGNC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.674G>A	7.37:g.41729855C>T	ENSP00000242208:p.Ser225Asn	Somatic	0	65	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	Q14599	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.S225N	ENST00000242208.4	37	c.674	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	15.16	2.751289	0.49257	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.66280	-0.2;-0.2	6.06	5.18	0.71444	Transforming growth factor-beta, N-terminal (1);	0.381502	0.34555	N	0.003875	T	0.52289	0.1725	L	0.29908	0.895	0.37559	D	0.918993	B	0.12013	0.005	B	0.15484	0.013	T	0.53975	-0.8362	10	0.52906	T	0.07	-20.8215	15.235	0.73422	0.0:0.9329:0.0:0.0671	.	225	P08476	INHBA_HUMAN	N	225	ENSP00000242208:S225N;ENSP00000397197:S225N	ENSP00000242208:S225N	S	-	2	0	INHBA	41696380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.172000	0.42463	1.565000	0.49641	0.655000	0.94253	AGC	-	pfam_TGF-b_N		0.592	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	protein_coding	OTTHUMT00000250793.1	C		-		41729855	-1	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	SNP	1.000	T
PCDHB8	56128	genome.wustl.edu	37	5	140559053	140559053	+	Missense_Mutation	SNP	G	G	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:140559053G>C	ENST00000239444.2	+	1	1683	c.1438G>C	c.(1438-1440)Gac>Cac	p.D480H	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACAGAGACTCGGGCAC	0.657																																																	0								ENSG00000120322						82.0	128.0	112.0					5																	140559053		2202	4295	6497	PCDHB8	SO:0001583	missense	0			-	HGNC	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1438G>C	5.37:g.140559053G>C	ENSP00000239444:p.Asp480His	Somatic	0	651	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	423	11.30	B9EGV1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D480H	ENST00000239444.2	37	c.1438	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891035	0.72524	.	.	ENSG00000120322	ENST00000239444	T	0.74632	-0.86	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92358	0.7575	H	0.99555	4.625	0.51012	D	0.999903	D	0.89917	1.0	D	0.97110	1.0	D	0.95988	0.8983	9	0.87932	D	0	.	16.2834	0.82708	0.0:0.0:1.0:0.0	.	480	Q9UN66	PCDB8_HUMAN	H	480	ENSP00000239444:D480H	ENSP00000239444:D480H	D	+	1	0	PCDHB8	140539237	1.000000	0.71417	0.406000	0.26421	0.848000	0.48234	9.393000	0.97256	1.915000	0.55452	0.298000	0.19748	GAC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	protein_coding	OTTHUMT00000251816.2	G	NM_019120	-		140559053	+1	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	SNP	1.000	C
SSH3	54961	genome.wustl.edu	37	11	67075389	67075389	+	Silent	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:67075389G>A	ENST00000308127.4	+	8	1042	c.864G>A	c.(862-864)ctG>ctA	p.L288L	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.L288L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	288					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCAGTGACCTGGAGAGTGTCA	0.622																																																	0								ENSG00000172830						76.0	74.0	75.0					11																	67075389		2200	4295	6495	SSH3	SO:0001819	synonymous_variant	0			-	HGNC	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.864G>A	11.37:g.67075389G>A		Somatic	0	64	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	91	9.00	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L288	ENST00000308127.4	37	c.864	CCDS8157.1	11																																																																																			-	pfam_DEK_C		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	protein_coding	OTTHUMT00000393167.1	G	NM_018276	-		67075389	+1	no_errors	ENST00000308127	ensembl	human	known	74_37	silent	SNP	1.000	A
BAZ2B	29994	genome.wustl.edu	37	2	160373040	160373041	+	Intron	DEL	CT	CT	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:160373040_160373041delCT	ENST00000392783.2	-	3	494				BAZ2B_ENST00000355831.2_Intron|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000483316.1_Intron|BAZ2B_ENST00000392782.1_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTAACACAACCTCTCTCTCTCT	0.356																																																	0								ENSG00000123636																																			BAZ2B	SO:0001627	intron_variant	0				HGNC	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2-37808AG>-	2.37:g.160373050_160373051delCT		Somatic	0	37	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000392783.2	37	NULL	CCDS2209.2	2																																																																																			-	-		0.356	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	protein_coding	OTTHUMT00000255037.2	CT				160373041	-1	no_errors	ENST00000482503	ensembl	human	known	74_37	rna	DEL	0.999:1.000	-
HSP90AA4P	3323	genome.wustl.edu	37	4	190395838	190395839	+	RNA	INS	-	-	A	rs70944383|rs550334233|rs77759523	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:190395838_190395839insA	ENST00000378770.1	+	0	830_831							Q58FG1	HS904_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)										aaaaacgaaacaaaaaaaaaaC	0.396													|||unknown(HR)	671	0.133986	0.1392	0.1369	5008	,	,		21828	0.0417		0.2326	False		,,,				2504	0.1186																0								ENSG00000205100																																			HSP90AA4P			0				HGNC			4q35.2	2011-04-15	2011-04-15	2006-02-24	ENSG00000205100	ENSG00000205100			5255	pseudogene	pseudogene			"""heat shock 90kD protein 1, alpha-like 2"", ""heat shock 90kDa protein 1, alpha-like 2"""	HSPCAL2		1740332, 16269234	Standard	NG_003014		Approved			Q58FG1	OTTHUMG00000160204		4.37:g.190395848_190395848dupA		Somatic	0	62	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378770.1	37	NULL		4																																																																																			-	-		0.396	HSP90AA4P-002	KNOWN	basic	processed_transcript	HSP90AA4P	pseudogene	OTTHUMT00000359634.1	-	NG_003014			190395839	+1	no_errors	ENST00000378770	ensembl	human	known	74_37	rna	INS	0.000:0.000	A
LINC01446	401337	genome.wustl.edu	37	7	53879286	53879286	+	lincRNA	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:53879286G>T	ENST00000380970.2	-	0	338					NR_038371.1																						GAGTTAGAGAGTGGtagtgaa	0.532																																																	0								ENSG00000205628																																			GS1-179L18.1			0			-	Clone_based_vega_gene																													7.37:g.53879286G>T		Somatic	0	74	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000380970.2	37	NULL		7																																																																																			-	-		0.532	GS1-179L18.1-001	KNOWN	basic	lincRNA	FLJ45974	lincRNA	OTTHUMT00000342819.1	G		-		53879286	-1	no_errors	ENST00000380970	ensembl	human	known	74_37	rna	SNP	0.003	T
PLCH1	23007	genome.wustl.edu	37	3	155199795	155199795	+	Silent	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:155199795G>T	ENST00000340059.7	-	23	4043	c.4044C>A	c.(4042-4044)ccC>ccA	p.P1348P	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.P1310P|PLCH1_ENST00000334686.6_Silent_p.P1310P|PLCH1_ENST00000414191.1_Silent_p.P1310P|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1348					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACAGAGAGTGGGATCAGCTA	0.468																																																	0								ENSG00000114805						45.0	49.0	48.0					3																	155199795		2203	4300	6503	PLCH1	SO:0001819	synonymous_variant	0			-	HGNC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4044C>A	3.37:g.155199795G>T		Somatic	0	41	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.P1348	ENST00000340059.7	37	c.4044	CCDS46939.1	3																																																																																			-	NULL		0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	protein_coding	OTTHUMT00000351125.1	G	NM_014996	-		155199795	-1	no_errors	ENST00000340059	ensembl	human	known	74_37	silent	SNP	0.000	T
MGST1	4257	genome.wustl.edu	37	12	16516913	16516913	+	Missense_Mutation	SNP	G	G	A	rs11555873		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:16516913G>A	ENST00000396209.1	+	4	549	c.406G>A	c.(406-408)Gtt>Att	p.V136I	MGST1_ENST00000396210.3_Missense_Mutation_p.V136I|MGST1_ENST00000010404.2_Missense_Mutation_p.V136I|MGST1_ENST00000396207.1_Missense_Mutation_p.V136I|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000540056.1_3'UTR	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	136					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	GAGTTTTTTTGTTGGATATGG	0.413																																																	0								ENSG00000008394	G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	170.0	159.0	163.0		406,406,406,406	-2.1	0.6	12	dbSNP_120	163	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	MGST1	NM_020300.3,NM_145764.1,NM_145791.1,NM_145792.1	29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	136/156,136/156,136/156,136/156	16516913	1,13005	2203	4300	6503	MGST1	SO:0001583	missense	0			-	HGNC	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.406G>A	12.37:g.16516913G>A	ENSP00000379512:p.Val136Ile	Somatic	0	125	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K533|G5EA53	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Membr-assoc_MAPEG	p.V136I	ENST00000396209.1	37	c.406	CCDS8677.1	12	.	.	.	.	.	.	.	.	.	.	G	4.536	0.099489	0.08681	0.0	1.16E-4	ENSG00000008394	ENST00000010404;ENST00000543076;ENST00000396210;ENST00000396209;ENST00000396207	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.33	-2.09	0.07232	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.838598	0.10980	N	0.612773	T	0.35770	0.0943	N	0.26092	0.79	0.19575	N	0.999964	B	0.02656	0.0	B	0.11329	0.006	T	0.31558	-0.9939	10	0.07482	T	0.82	-24.3334	8.6247	0.33881	0.4179:0.0954:0.4867:0.0	.	136	P10620	MGST1_HUMAN	I	136;100;136;136;136	ENSP00000010404:V136I;ENSP00000442767:V100I;ENSP00000379513:V136I;ENSP00000379512:V136I;ENSP00000379510:V136I	ENSP00000010404:V136I	V	+	1	0	MGST1	16408180	0.021000	0.18746	0.616000	0.29078	0.053000	0.15095	-0.019000	0.12546	-0.598000	0.05806	-0.797000	0.03246	GTT	-	pfam_Membr-assoc_MAPEG		0.413	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST1	protein_coding	OTTHUMT00000401189.1	G	NM_145791	-		16516913	+1	no_errors	ENST00000010404	ensembl	human	known	74_37	missense	SNP	0.312	A
PQLC2L	152078	genome.wustl.edu	37	3	157318113	157318113	+	3'UTR	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:157318113C>T	ENST00000449199.2	+	0	575				C3orf55_ENST00000426338.2_Silent_p.Y115Y|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN												breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			CTGGGTATTACAGTTGTTTAT	0.343																																																	0								ENSG00000174899						95.0	84.0	87.0					3																	157318113		692	1591	2283	C3orf55	SO:0001624	3_prime_UTR_variant	0			-	HGNC																												ENST00000449199.2:c.*26C>T	3.37:g.157318113C>T		Somatic	0	64	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	29	50.00	C9JP04|C9JXB5|Q8N6Q6	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Y115	ENST00000449199.2	37	c.345	CCDS46943.1	3																																																																																			-	NULL		0.343	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	protein_coding	OTTHUMT00000352018.1	C		-		157318113	+1	no_errors	ENST00000426338	ensembl	human	known	74_37	silent	SNP	0.000	T
NTM	50863	genome.wustl.edu	37	11	132205624	132205624	+	3'UTR	DEL	T	T	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:132205624delT	ENST00000374786.1	+	0	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						ACCGTTAAACTTTTTTTTTTT	0.294																																																	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.*584T>-	11.37:g.132205624delT		Somatic	0	34	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			-	-		0.294	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	protein_coding	OTTHUMT00000141937.1	T	NM_016522			132205624	+1	no_errors	ENST00000474900	ensembl	human	known	74_37	rna	DEL	0.000	-
LMF2	91289	genome.wustl.edu	37	22	50942780	50942780	+	Silent	SNP	A	A	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr22:50942780A>C	ENST00000474879.2	-	12	1722	c.1707T>G	c.(1705-1707)ccT>ccG	p.P569P	LMF2_ENST00000380796.3_Silent_p.P456P|LMF2_ENST00000216080.5_Silent_p.P544P|LMF2_ENST00000505981.1_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	569						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGCTCCCCAGGCTGGGAGA	0.687																																																	0								ENSG00000100258						56.0	50.0	52.0					22																	50942780		2201	4300	6501	LMF2	SO:0001819	synonymous_variant	0			-	HGNC	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1707T>G	22.37:g.50942780A>C		Somatic	0	165	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	45	64	40.54	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_LMF	p.P569	ENST00000474879.2	37	c.1707	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	A	3.273	-0.148792	0.06627	.	.	ENSG00000100258	ENST00000487499	.	.	.	5.87	-1.7	0.08159	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39292	-0.9621	4	.	.	.	-15.9744	5.539	0.17028	0.4544:0.2532:0.2924:0.0	.	.	.	.	G	576	.	.	W	-	1	0	LMF2	49289646	0.359000	0.24955	0.916000	0.36221	0.010000	0.07245	0.204000	0.17335	-0.409000	0.07553	-0.242000	0.12053	TGG	-	pfam_LMF		0.687	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	protein_coding	OTTHUMT00000316833.2	A	NM_033200	-		50942780	-1	no_errors	ENST00000474879	ensembl	human	known	74_37	silent	SNP	0.927	C
MYH7	4625	genome.wustl.edu	37	14	23898537	23898537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:23898537G>T	ENST00000355349.3	-	13	1320	c.1158C>A	c.(1156-1158)taC>taA	p.Y386*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	386	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCCCATGAGGTAGGCAGACT	0.562																																																	0								ENSG00000092054						85.0	74.0	78.0					14																	23898537		2203	4300	6503	MYH7	SO:0001587	stop_gained	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1158C>A	14.37:g.23898537G>T	ENSP00000347507:p.Tyr386*	Somatic	0	35	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y386*	ENST00000355349.3	37	c.1158	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	g	38	6.722127	0.97788	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	4.04	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5476	0.50702	0.088:0.0:0.912:0.0	.	.	.	.	X	386	.	ENSP00000347507:Y386X	Y	-	3	2	MYH7	22968377	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.825000	0.48096	0.902000	0.36520	0.455000	0.32223	TAC	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	G	NM_000257	-		23898537	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	nonsense	SNP	1.000	T
DCAF12L2	340578	genome.wustl.edu	37	X	125299630	125299630	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrX:125299630T>C	ENST00000360028.2	-	1	304	c.278A>G	c.(277-279)gAc>gGc	p.D93G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.D93G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	93										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTGCCCAGGTCCAGCTGGCG	0.677																																																	0								ENSG00000198354						49.0	45.0	46.0					X																	125299630		2203	4300	6503	DCAF12L2	SO:0001583	missense	0			-	HGNC	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.278A>G	X.37:g.125299630T>C	ENSP00000353128:p.Asp93Gly	Somatic	0	46	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	B2RN42	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.D93G	ENST00000360028.2	37	c.278	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	t	6.087	0.384372	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.32023	1.47;1.47	3.28	-0.877	0.10621	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.16471	0.0396	L	0.29908	0.895	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.31558	-0.9939	9	0.17369	T	0.5	.	3.5739	0.07927	0.2289:0.0:0.2542:0.5169	.	93	Q5VW00	DC122_HUMAN	G	93	ENSP00000441489:D93G;ENSP00000353128:D93G	ENSP00000353128:D93G	D	-	2	0	DCAF12L2	125127311	0.968000	0.33430	0.028000	0.17463	0.838000	0.47535	2.173000	0.42472	-0.358000	0.08162	0.237000	0.17872	GAC	-	superfamily_WD40_repeat_dom		0.677	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	protein_coding	OTTHUMT00000058181.1	T	NM_001013628	-		125299630	-1	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	SNP	0.382	C
KIF23	9493	genome.wustl.edu	37	15	69706766	69706766	+	5'UTR	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr15:69706766G>A	ENST00000260363.4	+	0	79				KIF23_ENST00000352331.4_5'UTR|RP11-253M7.1_ENST00000560539.1_RNA|KIF23_ENST00000395392.2_5'UTR|KIF23_ENST00000559279.1_5'UTR|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CCAGCCAGCCGTCCCGCATGC	0.687																																																	0								ENSG00000259426						9.0	10.0	10.0					15																	69706766		2170	4265	6435	RP11-253M7.1	SO:0001623	5_prime_UTR_variant	0			-	Clone_based_vega_gene	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.-39G>A	15.37:g.69706766G>A		Somatic	0	37	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	Q8WVP0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000260363.4	37	NULL	CCDS32278.1	15																																																																																			-	-		0.687	KIF23-201	KNOWN	basic|CCDS	protein_coding	ENSG00000259426	protein_coding		G		-		69706766	-1	no_errors	ENST00000558617	ensembl	human	known	74_37	rna	SNP	0.050	A
PTP4A1	7803	genome.wustl.edu	37	6	64286413	64286413	+	5'UTR	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr6:64286413C>T	ENST00000370651.3	+	0	781				PTP4A1_ENST00000578299.1_Missense_Mutation_p.H38Y|PTP4A1_ENST00000370650.2_5'UTR|PTP4A1_ENST00000473334.1_3'UTR	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1						cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CCAGGCACAGCACGACCTCTA	0.438																																					Pancreas(91;1019 1502 28028 38110 51645)												0								ENSG00000112245																																			PTP4A1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.-373C>T	6.37:g.64286413C>T		Somatic	0	49	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	17	39.29	B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.H38Y	ENST00000370651.3	37	c.112	CCDS4965.1	6																																																																																			-	NULL		0.438	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A1	protein_coding	OTTHUMT00000041083.2	C		-		64286413	+1	no_errors	ENST00000578299	ensembl	human	putative	74_37	missense	SNP	1.000	T
PCDHB4	56131	genome.wustl.edu	37	5	140503455	140503455	+	Silent	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:140503455C>A	ENST00000194152.1	+	1	1875	c.1875C>A	c.(1873-1875)acC>acA	p.T625T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGCGCACCGCCAGGCTGC	0.697																																																	0								ENSG00000081818						27.0	27.0	27.0					5																	140503455		1988	3984	5972	PCDHB4	SO:0001819	synonymous_variant	0			-	HGNC	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1875C>A	5.37:g.140503455C>A		Somatic	0	185	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	110	15.38	Q4V761	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T625	ENST00000194152.1	37	c.1875	CCDS4246.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	C	NM_018938	-		140503455	+1	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	SNP	0.002	A
SMARCA2	6595	genome.wustl.edu	37	9	2104085	2104085	+	Missense_Mutation	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:2104085C>A	ENST00000382203.1	+	23	3417	c.3208C>A	c.(3208-3210)Ctg>Atg	p.L1070M	SMARCA2_ENST00000357248.2_Missense_Mutation_p.L1070M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L1070M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L1070M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1070	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCACCGAGTGCTGCTTTTCTG	0.458																																																	0								ENSG00000080503						233.0	210.0	218.0					9																	2104085		2203	4300	6503	SMARCA2	SO:0001583	missense	0			-	HGNC	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3208C>A	9.37:g.2104085C>A	ENSP00000371638:p.Leu1070Met	Somatic	0	82	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	23	64.62	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L1070M	ENST00000382203.1	37	c.3208	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460818	0.84317	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.69	3.83	0.44106	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000012	D	0.93877	0.8041	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.998	D;D;D	0.85130	0.927;0.997;0.994	D	0.94828	0.7993	10	0.72032	D	0.01	-22.1844	12.6625	0.56822	0.0:0.8789:0.0:0.1211	.	671;1070;1070	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	M	1070	ENSP00000265773:L1070M;ENSP00000349788:L1070M;ENSP00000371638:L1070M;ENSP00000371629:L1070M	ENSP00000265773:L1070M	L	+	1	2	SMARCA2	2094085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.984000	0.56923	2.683000	0.91414	0.563000	0.77884	CTG	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.458	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	C	NM_003070	-		2104085	+1	no_errors	ENST00000349721	ensembl	human	known	74_37	missense	SNP	1.000	A
LHFPL4	375323	genome.wustl.edu	37	3	9594382	9594384	+	5'UTR	DEL	CGG	CGG	-	rs569344244|rs545721976	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	CGG	CGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:9594382_9594384delCGG	ENST00000287585.6	-	0	265_267				LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					gaggcggggccggcggcggcggc	0.764																																																	0								ENSG00000156959																																			LHFPL4	SO:0001623	5_prime_UTR_variant	0				HGNC	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.-21CCG>-	3.37:g.9594391_9594393delCGG		Somatic	0	27	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	A1L383|A4D0Q5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000287585.6	37	NULL	CCDS33691.1	3																																																																																			-	-		0.764	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	protein_coding	OTTHUMT00000338298.1	CGG	NM_198560			9594384	-1	no_errors	ENST00000498277	ensembl	human	known	74_37	rna	DEL	1.000:1.000:1.000	-
DNER	92737	genome.wustl.edu	37	2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-	rs376000556	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																																	0								ENSG00000187957																																			DNER	SO:0001651	inframe_deletion	0				HGNC	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del	Somatic	0	40	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	protein_coding	OTTHUMT00000331902.1	GCT	NM_139072			230456535	-1	no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	DEL	0.003:0.004:0.006	-
TMEM52B	120939	genome.wustl.edu	37	12	10335160	10335160	+	Silent	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:10335160G>A	ENST00000381923.2	+	3	470	c.66G>A	c.(64-66)acG>acA	p.T22T	TMEM52B_ENST00000536952.1_Silent_p.T22T|TMEM52B_ENST00000298530.3_Intron			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	22						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TTTCTGGGACGAGATGTGAGG	0.438																																																	0								ENSG00000165685																																			TMEM52B	SO:0001819	synonymous_variant	0			-	HGNC	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.66G>A	12.37:g.10335160G>A		Somatic	0	42	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	Q96NA7	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T22	ENST00000381923.2	37	c.66		12																																																																																			-	NULL		0.438	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	protein_coding	OTTHUMT00000399645.1	G	NM_153022	-		10335160	+1	no_errors	ENST00000381923	ensembl	human	known	74_37	silent	SNP	0.240	A
HEATR3	55027	genome.wustl.edu	37	16	50134332	50134333	+	Intron	DEL	GA	GA	-	rs538463128		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr16:50134332_50134333delGA	ENST00000299192.7	+	13	1934				HEATR3_ENST00000285767.4_Intron|RP11-429P3.5_ENST00000566770.1_RNA|RNY4P3_ENST00000365254.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3											cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTAGAAATGGGAGAAGAACTGT	0.351																																																	0								ENSG00000260381																																			RP11-429P3.5	SO:0001627	intron_variant	0				Clone_based_vega_gene	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1743+48GA>-	16.37:g.50134334_50134335delGA		Somatic	0	48	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	12	14.29	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000299192.7	37	NULL	CCDS10739.1	16																																																																																			-	-		0.351	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927250	protein_coding	OTTHUMT00000256880.2	GA	NM_182922			50134333	-1	no_errors	ENST00000566770	ensembl	human	known	74_37	rna	DEL	0.000:0.000	-
SSPO	23145	genome.wustl.edu	37	7	149477175	149477175	+	RNA	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:149477175C>T	ENST00000378016.2	+	0	1352							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGCCTGTGCCAGGCGGCAC	0.652																																																	0								ENSG00000197558						20.0	22.0	21.0					7																	149477175		2032	4173	6205	SSPO			0			-	HGNC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149477175C>T		Somatic	0	58	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	Q76B61	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			-	-		0.652	SSPO-202	KNOWN	basic	processed_transcript	SSPO	processed_transcript		C		-		149477175	+1	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	SNP	1.000	T
TESPA1	9840	genome.wustl.edu	37	12	55360979	55360979	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:55360979G>T	ENST00000449076.1	-	5	430	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TESPA1_ENST00000316577.8_Missense_Mutation_p.L100M|TESPA1_ENST00000524622.1_De_novo_Start_InFrame|TESPA1_ENST00000531122.1_De_novo_Start_InFrame|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_De_novo_Start_InFrame	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	100					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TCCGCTCCCAGGGTCAAGTCA	0.468																																																	0								ENSG00000135426						70.0	69.0	70.0					12																	55360979		1953	4143	6096	TESPA1	SO:0001583	missense	0			-	HGNC	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.298C>A	12.37:g.55360979G>T	ENSP00000400892:p.Leu100Met	Somatic	0	45	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L100M	ENST00000449076.1	37	c.298	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612063	0.66672	.	.	ENSG00000135426	ENST00000449076;ENST00000316577	T;T	0.73363	-0.74;-0.74	4.94	4.03	0.46877	.	.	.	.	.	D	0.82300	0.5007	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83355	-0.0001	9	0.72032	D	0.01	.	11.956	0.52981	0.0917:0.0:0.9083:0.0	.	100	A2RU30	K0748_HUMAN	M	100	ENSP00000400892:L100M;ENSP00000312679:L100M	ENSP00000312679:L100M	L	-	1	2	KIAA0748	53647246	1.000000	0.71417	0.706000	0.30403	0.904000	0.53231	4.641000	0.61375	2.462000	0.83206	0.650000	0.86243	CTG	-	NULL		0.468	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	protein_coding	OTTHUMT00000383822.1	G	NM_001098815	-		55360979	-1	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	SNP	0.945	T
MARVELD2	153562	genome.wustl.edu	37	5	68716207	68716207	+	Missense_Mutation	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:68716207C>A	ENST00000325631.5	+	2	1069	c.995C>A	c.(994-996)gCa>gAa	p.A332E	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	332	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCAGTGAATGCAGTGTTCTGC	0.428																																																	0								ENSG00000152939						83.0	67.0	72.0					5																	68716207		2203	4300	6503	MARVELD2	SO:0001583	missense	0			-	HGNC	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.995C>A	5.37:g.68716207C>A	ENSP00000323264:p.Ala332Glu	Somatic	0	50	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.A332E	ENST00000325631.5	37	c.995	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999127	0.54147	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803	T;T;T	0.25414	1.8;1.8;1.8	5.59	5.59	0.84812	Marvel (1);MARVEL-like domain (1);	0.104267	0.64402	D	0.000004	T	0.43055	0.1230	L	0.57536	1.79	0.80722	D	1	D;P;D	0.59357	0.985;0.719;0.975	P;B;P	0.54889	0.678;0.44;0.763	T	0.29852	-0.9998	10	0.87932	D	0	-8.8816	18.3685	0.90399	0.0:1.0:0.0:0.0	.	332;332;332	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	E	332	ENSP00000323264:A332E;ENSP00000396244:A332E;ENSP00000423490:A332E	ENSP00000282886:A332E	A	+	2	0	MARVELD2	68751963	1.000000	0.71417	0.044000	0.18714	0.331000	0.28603	3.918000	0.56432	2.639000	0.89480	0.655000	0.94253	GCA	-	pfam_Marvel		0.428	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	protein_coding	OTTHUMT00000369583.1	C	NM_144724	-		68716207	+1	no_errors	ENST00000325631	ensembl	human	known	74_37	missense	SNP	0.841	A
COL4A4	1286	genome.wustl.edu	37	2	227872807	227872807	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:227872807T>C	ENST00000396625.3	-	47	4943	c.4736A>G	c.(4735-4737)cAc>cGc	p.H1579R	COL4A4_ENST00000329662.7_Missense_Mutation_p.H1576R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1579	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTCCTGGCTGTGCACCGCCAC	0.652																																																	0								ENSG00000081052						27.0	32.0	30.0					2																	227872807		1981	4154	6135	COL4A4	SO:0001583	missense	0			-	HGNC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4736A>G	2.37:g.227872807T>C	ENSP00000379866:p.His1579Arg	Somatic	0	84	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A8MTZ1|Q53RW9|Q53S42|Q53WR1	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.H1579R	ENST00000396625.3	37	c.4736	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162281	0.78226	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94497	-3.44;-3.44	5.91	5.91	0.95273	C-type lectin fold (1);	.	.	.	.	D	0.98289	0.9433	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99402	1.0928	9	0.62326	D	0.03	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	1579	P53420	CO4A4_HUMAN	R	1579;1576	ENSP00000379866:H1579R;ENSP00000328553:H1576R	ENSP00000328553:H1576R	H	-	2	0	COL4A4	227581051	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	8.035000	0.88872	2.254000	0.74563	0.533000	0.62120	CAC	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC		0.652	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	T	NM_000092	-		227872807	-1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	SNP	1.000	C
GLIPR1L1	256710	genome.wustl.edu	37	12	75728541	75728541	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:75728541G>T	ENST00000378695.4	+	1	123	c.33G>T	c.(31-33)tgG>tgT	p.W11C	GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.W11C|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	11					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						GTTGTTTATGGATCTTGGGTC	0.498											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000173401						142.0	138.0	139.0					12																	75728541		2203	4300	6503	GLIPR1L1	SO:0001583	missense	0			-	HGNC	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.33G>T	12.37:g.75728541G>T	ENSP00000367967:p.Trp11Cys	Somatic	0	78	0.00	1162	0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	136	21.84	Q96L06	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.W11C	ENST00000378695.4	37	c.33		12	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097339	0.56075	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.08458	3.12;3.09	4.81	4.81	0.61882	CAP domain (1);	0.000000	0.64402	D	0.000001	T	0.18718	0.0449	L	0.36672	1.1	0.53005	D	0.999966	D;D	0.76494	0.999;0.999	P;D	0.66847	0.894;0.947	T	0.00728	-1.1591	10	0.51188	T	0.08	.	14.7828	0.69779	0.0:0.0:1.0:0.0	.	11;11	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	C	11	ENSP00000367967:W11C;ENSP00000310770:W11C	ENSP00000310770:W11C	W	+	3	0	GLIPR1L1	74014808	0.998000	0.40836	0.587000	0.28692	0.028000	0.11728	3.171000	0.50824	2.225000	0.72522	0.563000	0.77884	TGG	-	NULL		0.498	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	protein_coding	OTTHUMT00000405714.1	G	NM_152779	-		75728541	+1	no_errors	ENST00000378695	ensembl	human	known	74_37	missense	SNP	0.964	T
PIPSL	266971	genome.wustl.edu	37	10	95719666	95719666	+	RNA	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:95719666G>A	ENST00000480546.1	-	0	1631					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ACTCACTGTTGTCCACACTTG	0.507																																																	0								ENSG00000180764																																			PIPSL			0			-	HGNC	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719666G>A		Somatic	0	106	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	52	25.35	Q6NUK8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			-	-		0.507	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	pseudogene	OTTHUMT00000351483.1	G	NR_002319	-		95719666	-1	no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	SNP	1.000	A
MRGPRG-AS1	283303	genome.wustl.edu	37	11	3243183	3243183	+	RNA	SNP	C	C	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:3243183C>G	ENST00000420873.2	+	0	645				MRGPRG-AS1_ENST00000434798.1_RNA|MRGPRG-AS1_ENST00000541883.1_RNA			Q2M3A8	MRAS1_HUMAN	MRGPRG antisense RNA 1																		CTCGAGGTCACCGTCCAGGCC	0.617																																																	0								ENSG00000236301																																			MRGPRG-AS1			0			-	HGNC	AK097749		11p15.4	2012-10-12	2012-08-15	2012-08-10	ENSG00000236301	ENSG00000236301		"""Long non-coding RNAs"""	26691	non-coding RNA	RNA, long non-coding			"""chromosome 11 open reading frame 36"", ""MRGPRG antisense RNA 1 (non-protein coding)"""	C11orf36			Standard	NR_027138		Approved	FLJ36102, HSD-40	uc001lxo.2	Q2M3A8	OTTHUMG00000011707		11.37:g.3243183C>G		Somatic	0	85	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	42	38.24	Q6TF48|Q8N7R8|Q8N9X7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000420873.2	37	NULL		11	.	.	.	.	.	.	.	.	.	.	c	6.860	0.527923	0.13127	.	.	ENSG00000236301	ENST00000434798;ENST00000420873;ENST00000541883	.	.	.	0.822	0.822	0.18806	.	.	.	.	.	T	0.20740	0.0499	.	.	.	0.09310	N	1	P	0.34934	0.476	B	0.23275	0.045	T	0.17623	-1.0363	7	0.87932	D	0	.	4.9441	0.13980	0.0:1.0:0.0:0.0	.	81	Q2M3A8	CK036_HUMAN	A	81	.	ENSP00000436553:P81A	P	+	1	0	C11orf36	3199759	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.675000	0.25232	0.713000	0.32060	0.462000	0.41574	CCG	-	-		0.617	MRGPRG-AS1-002	KNOWN	alternative_5_UTR|basic	antisense	MRGPRG-AS1	antisense	OTTHUMT00000032345.2	C	NR_027138	-		3243183	+1	no_errors	ENST00000420873	ensembl	human	known	74_37	rna	SNP	0.001	G
PABPC3	5042	genome.wustl.edu	37	13	25671937	25671937	+	Missense_Mutation	SNP	T	T	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr13:25671937T>A	ENST00000281589.3	+	1	1638	c.1601T>A	c.(1600-1602)gTa>gAa	p.V534E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	534					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCTGTTCATGTACAAGGTCAG	0.483																																																	0								ENSG00000151846						99.0	91.0	94.0					13																	25671937		2203	4300	6503	PABPC3	SO:0001583	missense	0			-	HGNC	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1601T>A	13.37:g.25671937T>A	ENSP00000281589:p.Val534Glu	Somatic	0	95	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	14	65.91	Q8NHV0|Q9H086	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.V534E	ENST00000281589.3	37	c.1601	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	T	5.791	0.330283	0.10956	.	.	ENSG00000151846	ENST00000281589	T	0.46063	0.88	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.40385	U	0.001109	T	0.35278	0.0926	M	0.78456	2.415	0.50039	D	0.999841	B	0.10296	0.003	B	0.15052	0.012	T	0.10405	-1.0631	10	0.11794	T	0.64	.	5.8995	0.18957	0.0:0.0:0.0:1.0	.	534	Q9H361	PABP3_HUMAN	E	534	ENSP00000281589:V534E	ENSP00000281589:V534E	V	+	2	0	PABPC3	24569937	1.000000	0.71417	0.989000	0.46669	0.057000	0.15508	5.455000	0.66658	0.632000	0.30432	0.260000	0.18958	GTA	-	superfamily_PABP_HYD,tigrfam_PABP_1234		0.483	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	protein_coding	OTTHUMT00000044220.2	T	NM_030979	-		25671937	+1	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	SNP	1.000	A
ADIRF	10974	genome.wustl.edu	37	10	88728253	88728253	+	5'UTR	SNP	C	C	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:88728253C>G	ENST00000372013.3	+	0	305				RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000440490.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|ADIRF-AS1_ENST00000609111.1_RNA|ADIRF-AS1_ENST00000418273.2_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor						cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TGGGCAGGATCCAACGTCGCT	0.672																																																	0								ENSG00000272734						30.0	27.0	28.0					10																	88728253		2198	4300	6498	ADIRF-AS1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"""adipose specific 2"", ""adipose most abundant gene transcript 2"", ""adipogenesis factor rich in obesity"""		"""chromosome 10 open reading frame 116"""	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.-49C>G	10.37:g.88728253C>G		Somatic	0	73	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	31	29.55		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372013.3	37	NULL	CCDS7381.1	10																																																																																			-	-		0.672	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIRF-AS1	protein_coding	OTTHUMT00000049194.1	C	NM_006829	-		88728253	-1	no_errors	ENST00000609111	ensembl	human	known	74_37	rna	SNP	0.009	G
SSH3	54961	genome.wustl.edu	37	11	67075390	67075390	+	Missense_Mutation	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:67075390G>A	ENST00000308127.4	+	8	1043	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Missense_Mutation_p.E289K	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	289					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CAGTGACCTGGAGAGTGTCAC	0.622																																																	0								ENSG00000172830						75.0	74.0	74.0					11																	67075390		2200	4295	6495	SSH3	SO:0001583	missense	0			-	HGNC	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.865G>A	11.37:g.67075390G>A	ENSP00000312081:p.Glu289Lys	Somatic	0	68	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	92	8.91	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E289K	ENST00000308127.4	37	c.865	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295393	0.60086	.	.	ENSG00000172830	ENST00000308127;ENST00000376757;ENST00000527821	T;T;T	0.24350	3.49;3.6;1.86	4.5	3.58	0.41010	DEK, C-terminal (1);	0.912692	0.09095	N	0.849254	T	0.42404	0.1201	L	0.58810	1.83	0.44762	D	0.997763	P;P	0.46277	0.787;0.875	B;P	0.53185	0.359;0.72	T	0.19712	-1.0297	10	0.72032	D	0.01	-3.8302	13.8019	0.63206	0.0:0.1551:0.8449:0.0	.	143;289	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	K	289;289;41	ENSP00000312081:E289K;ENSP00000365948:E289K;ENSP00000433902:E41K	ENSP00000312081:E289K	E	+	1	0	SSH3	66831966	1.000000	0.71417	0.975000	0.42487	0.018000	0.09664	7.989000	0.88205	1.033000	0.39918	0.462000	0.41574	GAG	-	pfam_DEK_C		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	protein_coding	OTTHUMT00000393167.1	G	NM_018276	-		67075390	+1	no_errors	ENST00000308127	ensembl	human	known	74_37	missense	SNP	1.000	A
CARD14	79092	genome.wustl.edu	37	17	78169122	78169122	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:78169122T>C	ENST00000573882.1	+	12	2025	c.1489T>C	c.(1489-1491)Tgg>Cgg	p.W497R	CARD14_ENST00000570421.1_Missense_Mutation_p.W497R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.W497R|CARD14_ENST00000392434.2_Missense_Mutation_p.W260R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	497					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGAAGAACCCTGGTCTTTCAG	0.652																																																	0								ENSG00000141527						38.0	41.0	40.0					17																	78169122		2203	4300	6503	CARD14	SO:0001583	missense	0			-	HGNC	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1489T>C	17.37:g.78169122T>C	ENSP00000458715:p.Trp497Arg	Somatic	0	75	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	79	9.20	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like	p.W497R	ENST00000573882.1	37	c.1489	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	T	1.339	-0.594696	0.03771	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.24350	1.86;2.54	4.38	2.02	0.26589	.	2.218360	0.01937	N	0.041640	T	0.16171	0.0389	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29508	0.054;0.246;0.022	B;B;B	0.24155	0.007;0.051;0.007	T	0.18366	-1.0339	10	0.13108	T	0.6	-0.64	5.198	0.15249	0.1628:0.0:0.1964:0.6408	.	497;260;497	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	R	497;260;260	ENSP00000344549:W497R;ENSP00000376229:W260R	ENSP00000308507:W260R	W	+	1	0	CARD14	75783717	0.000000	0.05858	0.158000	0.22627	0.249000	0.25844	0.128000	0.15810	0.773000	0.33404	0.533000	0.62120	TGG	-	NULL		0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	protein_coding	OTTHUMT00000437507.1	T		-		78169122	+1	no_errors	ENST00000344227	ensembl	human	known	74_37	missense	SNP	0.075	C
RABGGTB	5876	genome.wustl.edu	37	1	76255463	76255463	+	Intron	SNP	G	G	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:76255463G>C	ENST00000319942.3	+	4	380				RABGGTB_ENST00000370826.3_Intron|SNORD45C_ENST00000383893.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|SNORD45A_ENST00000384512.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000535300.1_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTAAAGATTTGAGTTTTCTTG	0.308																																																	0								ENSG00000137955																																			RABGGTB	SO:0001627	intron_variant	0			-	HGNC	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.310-174G>C	1.37:g.76255463G>C		Somatic	0	14	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q92697	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			-	-		0.308	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	protein_coding	OTTHUMT00000026972.1	G	NM_004582	-		76255463	+1	no_errors	ENST00000461653	ensembl	human	known	74_37	rna	SNP	0.001	C
SPATA18	132671	genome.wustl.edu	37	4	52948721	52948721	+	Intron	SNP	T	T	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:52948721T>A	ENST00000295213.4	+	10	1853				SPATA18_ENST00000419395.2_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18						cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGTGTTTGATTCACAAGTTCG	0.398																																																	0								ENSG00000163071						77.0	76.0	76.0					4																	52948721		2203	4300	6503	SPATA18	SO:0001627	intron_variant	0			-	HGNC	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1479+45T>A	4.37:g.52948721T>A		Somatic	0	63	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I508	ENST00000295213.4	37	c.1524	CCDS3489.1	4																																																																																			-	NULL		0.398	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	protein_coding	OTTHUMT00000250597.2	T	NM_145263	-		52948721	+1	no_errors	ENST00000505320	ensembl	human	known	74_37	silent	SNP	0.986	A
LCT	3938	genome.wustl.edu	37	2	136594389	136594389	+	Silent	SNP	G	G	T	rs200862944		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:136594389G>T	ENST00000264162.2	-	1	361	c.351C>A	c.(349-351)ctC>ctA	p.L117L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	117	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGAGGGCCTTGAGGAGTCGCC	0.577																																																	0								ENSG00000115850						94.0	85.0	88.0					2																	136594389		2203	4300	6503	LCT	SO:0001819	synonymous_variant	0			-	HGNC	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.351C>A	2.37:g.136594389G>T		Somatic	0	81	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q4ZG58	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L117	ENST00000264162.2	37	c.351	CCDS2178.1	2																																																																																			-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	protein_coding	OTTHUMT00000254657.1	G	NM_002299	-		136594389	-1	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	SNP	0.000	T
CDCA7L	55536	genome.wustl.edu	37	7	21940719	21940719	+	3'UTR	SNP	C	C	T	rs72658836		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:21940719C>T	ENST00000406877.3	-	0	2865				DNAH11_ENST00000328843.6_Silent_p.P4473P|CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Silent_p.P4466P	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAGCCACCCCCGTGGACAGAC	0.562																																																	0								ENSG00000105877						84.0	89.0	87.0					7																	21940719		1901	4117	6018	DNAH11	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.*1221G>A	7.37:g.21940719C>T		Somatic	0	52	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P4473	ENST00000406877.3	37	c.13419	CCDS5374.1	7																																																																																			-	pfam_Dynein_heavy_dom		0.562	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH11	protein_coding	OTTHUMT00000250218.4	C	NM_018719	rs72658836		21940719	+1	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	SNP	0.017	T
TBC1D8B	54885	genome.wustl.edu	37	X	106091430	106091430	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chrX:106091430G>T	ENST00000357242.5	+	11	1908	c.1734G>T	c.(1732-1734)ttG>ttT	p.L578F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L572F|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.L578F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	578	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAATATTTTGACTTCAGTGC	0.308																																																	0								ENSG00000133138						105.0	94.0	98.0					X																	106091430		2202	4300	6502	TBC1D8B	SO:0001583	missense	0			-	HGNC	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1734G>T	X.37:g.106091430G>T	ENSP00000349781:p.Leu578Phe	Somatic	0	27	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.L578F	ENST00000357242.5	37	c.1734	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159210	0.57368	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.09255	3.0;3.0;3.0	4.34	3.47	0.39725	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000005	T	0.27169	0.0666	M	0.70842	2.15	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00958	-1.1500	10	0.87932	D	0	-7.9276	6.6532	0.22973	0.103:0.1766:0.7204:0.0	.	578;578	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	F	578;578;572	ENSP00000349781:L578F;ENSP00000310675:L578F;ENSP00000276175:L572F	ENSP00000276175:L572F	L	+	3	2	TBC1D8B	105978086	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.981000	0.40628	0.750000	0.32877	0.594000	0.82650	TTG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.308	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	G	NM_017752	-		106091430	+1	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	SNP	1.000	T
CADPS	8618	genome.wustl.edu	37	3	62578348	62578348	+	Silent	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:62578348T>C	ENST00000383710.4	-	7	1750	c.1401A>G	c.(1399-1401)acA>acG	p.T467T	CADPS_ENST00000357948.3_Silent_p.T467T|CADPS_ENST00000283269.9_Silent_p.T467T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	467	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCAGGACGCCTGTGCTCTCTG	0.562																																																	0								ENSG00000163618						155.0	136.0	142.0					3																	62578348		2203	4300	6503	CADPS	SO:0001819	synonymous_variant	0			-	HGNC	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1401A>G	3.37:g.62578348T>C		Somatic	0	53	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T467	ENST00000383710.4	37	c.1401	CCDS46858.1	3																																																																																			-	superfamily_C2_dom		0.562	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	T	NM_003716, NM_183393, NM_183394	-		62578348	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	silent	SNP	0.729	C
GFM1	85476	genome.wustl.edu	37	3	158408940	158408940	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:158408940G>T	ENST00000486715.1	+	17	2440	c.2083G>T	c.(2083-2085)Gat>Tat	p.D695Y	RP11-379F4.7_ENST00000607624.1_lincRNA|GFM1_ENST00000264263.5_Missense_Mutation_p.D714Y	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCCTCTAAATGATATGTTTGG	0.328																																																	0								ENSG00000168827						135.0	131.0	133.0					3																	158408940		2203	4300	6503	GFM1	SO:0001583	missense	0			-	HGNC	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2083G>T	3.37:g.158408940G>T	ENSP00000419038:p.Asp695Tyr	Somatic	0	38	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.D695Y	ENST00000486715.1	37	c.2083	CCDS33885.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.328788|2.328788	0.41197|0.41197	.|.	.|.	ENSG00000168827|ENSG00000168827	ENST00000486715;ENST00000264263|ENST00000472383	T;T|.	0.63913|.	-0.07;-0.07|.	5.76|5.76	0.938|0.938	0.19500|0.19500	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);|.	0.322146|.	0.32258|.	N|.	0.006355|.	T|T	0.69851|0.69851	0.3157|0.3157	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D|.	0.63880|.	0.993;0.986|.	P;D|.	0.66351|.	0.905;0.943|.	T|T	0.66097|0.66097	-0.6008|-0.6008	10|5	0.87932|.	D|.	0|.	-28.2091|-28.2091	10.2191|10.2191	0.43186|0.43186	0.3835:0.0:0.6165:0.0|0.3835:0.0:0.6165:0.0	.|.	714;695|.	Q96RP9-2;Q96RP9|.	.;EFGM_HUMAN|.	Y|I	695;714|17	ENSP00000419038:D695Y;ENSP00000264263:D714Y|.	ENSP00000264263:D714Y|.	D|M	+|+	1|3	0|0	GFM1|GFM1	159891634|159891634	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.997000|0.997000	0.91878|0.91878	2.119000|2.119000	0.41958|0.41958	-0.109000|-0.109000	0.12044|0.12044	0.655000|0.655000	0.94253|0.94253	GAT|ATG	-	pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V,tigrfam_Transl_elong_EFG/EF2		0.328	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	protein_coding	OTTHUMT00000352271.1	G	NM_024996	-		158408940	+1	no_errors	ENST00000486715	ensembl	human	known	74_37	missense	SNP	0.994	T
PGM5	5239	genome.wustl.edu	37	9	70999430	70999430	+	Missense_Mutation	SNP	G	G	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:70999430G>C	ENST00000396396.1	+	3	770	c.541G>C	c.(541-543)Gac>Cac	p.D181H	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.D181H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	181					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAAGAATTTGACCTAGAAAA	0.388																																																	0								ENSG00000154330						77.0	73.0	75.0					9																	70999430		2203	4299	6502	PGM5	SO:0001583	missense	0			-	HGNC	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.541G>C	9.37:g.70999430G>C	ENSP00000379678:p.Asp181His	Somatic	0	126	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	112	8.20	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.D181H	ENST00000396396.1	37	c.541	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	16.95	3.263318	0.59431	.	.	ENSG00000154330	ENST00000396396;ENST00000396392	T;T	0.65364	0.43;-0.15	4.46	3.55	0.40652	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.050859	0.85682	U	0.000000	T	0.64605	0.2613	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.58873	0.847	T	0.68387	-0.5422	10	0.87932	D	0	.	13.5718	0.61851	0.0:0.158:0.842:0.0	.	181	Q15124	PGM5_HUMAN	H	181	ENSP00000379678:D181H;ENSP00000379674:D181H	ENSP00000379674:D181H	D	+	1	0	PGM5	70189250	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.847000	0.86896	0.963000	0.38082	0.573000	0.79308	GAC	-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.388	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	protein_coding	OTTHUMT00000052548.2	G	NM_021965	-		70999430	+1	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	SNP	1.000	C
ZNF22	7570	genome.wustl.edu	37	10	45498705	45498706	+	Intron	INS	-	-	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:45498705_45498706insT	ENST00000298299.3	+	2	504				C10orf25_ENST00000298298.1_5'Flank|CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22						odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TCATCTCTAAATTTTTTTTCCT	0.292																																																	0								ENSG00000226937																																			CEP164P1	SO:0001627	intron_variant	0				HGNC	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.-89-22->T	10.37:g.45498713_45498713dupT		Somatic	0	15	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	6	25.00	Q5T741|Q96FM4	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000298299.3	37	NULL	CCDS7211.1	10																																																																																			-	-		0.292	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164P1	protein_coding	OTTHUMT00000047761.1	-	NM_006963			45498706	-1	no_errors	ENST00000456938	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
CSMD3	114788	genome.wustl.edu	37	8	113599332	113599332	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:113599332G>T	ENST00000297405.5	-	23	4092	c.3848C>A	c.(3847-3849)gCc>gAc	p.A1283D	CSMD3_ENST00000343508.3_Missense_Mutation_p.A1243D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1179D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A1283D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1283	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1243G(1)|p.A1283G(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATGTTCTGGCTGAAATATT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)						ENSG00000164796						129.0	117.0	121.0					8																	113599332		2203	4299	6502	CSMD3	SO:0001583	missense	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3848C>A	8.37:g.113599332G>T	ENSP00000297405:p.Ala1283Asp	Somatic	0	66	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q96PZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A1283D	ENST00000297405.5	37	c.3848	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654894	0.67472	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.08	4.08	0.47627	CUB (5);	0.000000	0.64402	D	0.000001	T	0.57740	0.2074	M	0.86178	2.8	0.36191	D	0.850062	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.79108	0.925;0.992;0.991	T	0.65944	-0.6045	10	0.22109	T	0.4	.	16.8146	0.85730	0.0:0.0:1.0:0.0	.	1179;1283;1243	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	1243;1283;623;1179;1283	ENSP00000345799:A1243D;ENSP00000297405:A1283D;ENSP00000341558:A623D;ENSP00000412263:A1179D;ENSP00000343124:A1283D	ENSP00000297405:A1283D	A	-	2	0	CSMD3	113668508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.481000	0.73608	2.267000	0.75376	0.591000	0.81541	GCC	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		113599332	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T
MARK1	4139	genome.wustl.edu	37	1	220836131	220836131	+	3'UTR	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:220836131G>T	ENST00000366918.4	+	0	3497				RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000402574.1_3'UTR					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGTTTACAGTGTTGGCACTTA	0.323																																																	0								ENSG00000225782																																			RP11-322F10.2	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366918.4:c.*623G>T	1.37:g.220836131G>T		Somatic	0	36	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000366918.4	37	NULL		1																																																																																			-	-		0.323	MARK1-001	KNOWN	basic	protein_coding	ENSG00000225782	protein_coding	OTTHUMT00000090898.2	G		-		220836131	-1	no_errors	ENST00000446040	ensembl	human	known	74_37	rna	SNP	1.000	T
F11	2160	genome.wustl.edu	37	4	187201259	187201259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:187201259delC	ENST00000403665.2	+	8	1201	c.849delC	c.(847-849)tgcfs	p.C283fs	F11_ENST00000264692.4_Frame_Shift_Del_p.C231fs	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	283	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TACAAAGCTGCAGGCACAGCA	0.478																																																	0								ENSG00000088926						74.0	75.0	75.0					4																	187201259		2203	4300	6503	F11	SO:0001589	frameshift_variant	0				HGNC	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.849delC	4.37:g.187201259delC	ENSP00000384957:p.Cys283fs	Somatic	0	55	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	D3DP64|Q4W5C2|Q9Y495	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.C283fs	ENST00000403665.2	37	c.849	CCDS3847.1	4																																																																																			-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple		0.478	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	protein_coding	OTTHUMT00000317519.4	C				187201259	+1	no_errors	ENST00000403665	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
ALOX12B	242	genome.wustl.edu	37	17	7983209	7983209	+	Missense_Mutation	SNP	G	G	T	rs532842455		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:7983209G>T	ENST00000319144.4	-	7	1065	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	269	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACGCCGTTGAGGTACTGGTAC	0.677										Multiple Myeloma(8;0.094)																																							0								ENSG00000179477						37.0	36.0	36.0					17																	7983209		2203	4300	6503	ALOX12B	SO:0001583	missense	0			-	HGNC	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.805C>A	17.37:g.7983209G>T	ENSP00000315167:p.Leu269Ile	Somatic	0	59	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.L269I	ENST00000319144.4	37	c.805	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532480	0.85812	.	.	ENSG00000179477	ENST00000319144	D	0.95171	-3.63	4.35	4.35	0.52113	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.76002	2.32	0.45139	D	0.998159	D	0.89917	1.0	D	0.97110	1.0	D	0.95971	0.8970	10	0.72032	D	0.01	-30.3989	9.9206	0.41462	0.0965:0.0:0.9035:0.0	.	269	O75342	LX12B_HUMAN	I	269	ENSP00000315167:L269I	ENSP00000315167:L269I	L	-	1	0	ALOX12B	7923934	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.416000	0.59815	2.442000	0.82660	0.555000	0.69702	CTC	-	pfam_LipOase_C,superfamily_LipOase_C		0.677	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	protein_coding	OTTHUMT00000226984.3	G		-		7983209	-1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	SNP	1.000	T
OR4C16	219428	genome.wustl.edu	37	11	55340374	55340374	+	Silent	SNP	A	A	C	rs371509327		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:55340374A>C	ENST00000314634.3	+	1	771	c.771A>C	c.(769-771)acA>acC	p.T257T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTATGTACACATGCCTTGCAA	0.403																																																	0								ENSG00000181935	A		1,4401	2.1+/-5.4	0,1,2200	165.0	140.0	148.0		771	-3.4	0.8	11		148	0,8592		0,0,4296	no	coding-synonymous	OR4C16	NM_001004701.2		0,1,6496	CC,CA,AA		0.0,0.0227,0.0077		257/311	55340374	1,12993	2201	4296	6497	OR4C16	SO:0001819	synonymous_variant	0			-	HGNC	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.771A>C	11.37:g.55340374A>C		Somatic	0	100	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	72	46	61.02	Q6IEV8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T257	ENST00000314634.3	37	c.771	CCDS31502.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.403	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	protein_coding	OTTHUMT00000382627.1	A	NM_001004701	-		55340374	+1	no_errors	ENST00000314634	ensembl	human	known	74_37	silent	SNP	0.002	C
FRS2	10818	genome.wustl.edu	37	12	69964267	69964267	+	Missense_Mutation	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:69964267G>A	ENST00000550389.1	+	4	469	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FRS2_ENST00000549921.1_Missense_Mutation_p.E75K|FRS2_ENST00000299293.2_Missense_Mutation_p.E75K|FRS2_ENST00000397997.2_Missense_Mutation_p.E75K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	75	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTTTTCTTTTGAAAGTGGTCG	0.383																																																	0								ENSG00000166225						105.0	95.0	98.0					12																	69964267		1920	4119	6039	FRS2	SO:0001583	missense	0			-	HGNC	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.223G>A	12.37:g.69964267G>A	ENSP00000447241:p.Glu75Lys	Somatic	0	63	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	280	9.97	B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.E75K	ENST00000550389.1	37	c.223	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.039405	0.97226	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000550937;ENST00000397997;ENST00000551325	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.65	5.65	0.86999	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	9	.	.	.	-21.0459	19.7056	0.96070	0.0:0.0:1.0:0.0	.	75	Q8WU20	FRS2_HUMAN	K	75	ENSP00000299293:E75K;ENSP00000450048:E75K;ENSP00000447241:E75K;ENSP00000447804:E75K;ENSP00000381083:E75K;ENSP00000449432:E75K	.	E	+	1	0	FRS2	68250534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.808000	0.99193	2.659000	0.90383	0.462000	0.41574	GAA	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1		0.383	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	protein_coding	OTTHUMT00000403760.1	G	NM_006654	-		69964267	+1	no_errors	ENST00000299293	ensembl	human	known	74_37	missense	SNP	1.000	A
TRIML2	205860	genome.wustl.edu	37	4	189026407	189026407	+	5'UTR	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:189026407C>A	ENST00000512729.1	-	0	340				TRIML2_ENST00000326754.3_5'Flank|TRIML2_ENST00000536972.1_Missense_Mutation_p.S39I|TRIML2_ENST00000502707.1_5'Flank	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2						protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GAAGCATTTGCTGCAGAGTGT	0.478																																																	0								ENSG00000179046						207.0	182.0	190.0					4																	189026407		2203	4300	6503	TRIML2	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.-35G>T	4.37:g.189026407C>A		Somatic	0	67	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	B7Z6J6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_B-box,pfscan_Znf_B-box	p.S39I	ENST00000512729.1	37	c.116	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748153	0.30955	.	.	ENSG00000179046	ENST00000536972	T	0.44083	0.93	5.05	-8.16	0.01061	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.28553	0.091	T	0.13737	-1.0498	8	0.21014	T	0.42	.	5.3606	0.16085	0.4082:0.1747:0.0:0.4171	.	39	B7Z6J6	.	I	39	ENSP00000441236:S39I	ENSP00000441236:S39I	S	-	2	0	TRIML2	189263401	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.293000	0.08320	-1.871000	0.01138	0.655000	0.94253	AGC	-	pfam_Znf_B-box,pfscan_Znf_B-box		0.478	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	protein_coding	OTTHUMT00000359733.1	C	NM_173553	-		189026407	-1	no_errors	ENST00000536972	ensembl	human	known	74_37	missense	SNP	0.000	A
ELOVL7	79993	genome.wustl.edu	37	5	60062402	60062402	+	Splice_Site	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:60062402G>A	ENST00000508821.1	-	6	706	c.392C>T	c.(391-393)aCg>aTg	p.T131M	ELOVL7_ENST00000505959.1_Splice_Site_p.T118M|ELOVL7_ENST00000438340.1_Splice_Site_p.T131M|ELOVL7_ENST00000425382.1_Splice_Site_p.T131M	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	131					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TATACTCACCGTATCTAATAG	0.328																																																	0								ENSG00000164181						95.0	94.0	94.0					5																	60062402		2203	4300	6503	ELOVL7	SO:0001630	splice_region_variant	0			-	HGNC	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.393+1C>T	5.37:g.60062402G>A		Somatic	0	72	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GNS1_SUR4	p.T131M	ENST00000508821.1	37	c.392	CCDS34164.1	5	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177419	0.57692	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	5.44	4.56	0.56223	.	0.049642	0.85682	D	0.000000	D	0.86314	0.5903	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92228	0.5790	10	0.87932	D	0	-9.7281	14.8024	0.69926	0.0:0.0:0.855:0.145	.	118;131	D6RHD0;A1L3X0	.;ELOV7_HUMAN	M	131;131;131;118;131;131	ENSP00000424123:T131M;ENSP00000411255:T131M;ENSP00000402634:T131M;ENSP00000421043:T118M;ENSP00000426400:T131M;ENSP00000424081:T131M	ENSP00000402634:T131M	T	-	2	0	ELOVL7	60098159	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	8.758000	0.91663	1.512000	0.48834	-0.188000	0.12872	ACG	-	pfam_GNS1_SUR4		0.328	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL7	protein_coding	OTTHUMT00000368195.1	G		-	Missense_Mutation	60062402	-1	no_errors	ENST00000425382	ensembl	human	known	74_37	missense	SNP	1.000	A
CDH24	64403	genome.wustl.edu	37	14	23517654	23517654	+	Missense_Mutation	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr14:23517654C>A	ENST00000267383.5	-	12	2087	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	CDH24_ENST00000397359.3_Missense_Mutation_p.Q665H|CDH24_ENST00000554034.1_Missense_Mutation_p.Q627H|CDH24_ENST00000487137.2_Missense_Mutation_p.Q627H|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	665					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTCTTGCTTCTGCCGCCGCA	0.682																																																	0								ENSG00000139880						57.0	61.0	59.0					14																	23517654		2203	4296	6499	CDH24	SO:0001583	missense	0			-	HGNC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1995G>T	14.37:g.23517654C>A	ENSP00000267383:p.Gln665His	Somatic	0	44	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q665H	ENST00000267383.5	37	c.1995	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	C	3.520	-0.097983	0.07010	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.59	3.7	0.42460	Cadherin, cytoplasmic domain (1);	0.073318	0.56097	D	0.000028	T	0.60830	0.2299	N	0.12663	0.25	0.39948	D	0.974491	B;P	0.35411	0.125;0.5	B;B	0.41813	0.046;0.367	T	0.54016	-0.8356	10	0.17832	T	0.49	.	6.8995	0.24275	0.1724:0.7358:0.0:0.0918	.	627;665	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	H	665;627;160;627;665	ENSP00000380517:Q665H;ENSP00000434821:Q627H;ENSP00000452493:Q627H;ENSP00000267383:Q665H	ENSP00000267383:Q665H	Q	-	3	2	CDH24	22587494	0.893000	0.30496	1.000000	0.80357	0.625000	0.37756	0.097000	0.15168	0.925000	0.37094	0.591000	0.81541	CAG	-	pfam_Cadherin_cytoplasmic-dom		0.682	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	protein_coding	OTTHUMT00000257241.2	C	NM_022478	-		23517654	-1	no_errors	ENST00000267383	ensembl	human	known	74_37	missense	SNP	1.000	A
PCDH18	54510	genome.wustl.edu	37	4	138452253	138452253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:138452253delA	ENST00000344876.4	-	1	1376	c.990delT	c.(988-990)ggtfs	p.G330fs	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Frame_Shift_Del_p.G110fs|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Frame_Shift_Del_p.G330fs	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	330	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAATTTGGACCCAAATCTT	0.353																																																	0								ENSG00000189184						28.0	32.0	31.0					4																	138452253		2185	4297	6482	PCDH18	SO:0001589	frameshift_variant	0				HGNC	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.990delT	4.37:g.138452253delA	ENSP00000355082:p.Gly330fs	Somatic	0	61	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	A8K7K3|B7ZKT1|Q52LS2	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P331fs	ENST00000344876.4	37	c.990	CCDS34064.1	4																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.353	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	protein_coding	OTTHUMT00000364614.1	A	NM_019035			138452253	-1	no_errors	ENST00000344876	ensembl	human	known	74_37	frame_shift_del	DEL	0.975	-
ZFP69	339559	genome.wustl.edu	37	1	40960772	40960772	+	Missense_Mutation	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:40960772G>A	ENST00000372706.1	+	6	1628	c.622G>A	c.(622-624)Gat>Aat	p.D208N	ZFP69_ENST00000372705.3_Missense_Mutation_p.D208N|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTGTATGAGAGATGTGAGACA	0.363																																																	0								ENSG00000187815						81.0	80.0	80.0					1																	40960772		2203	4300	6503	ZFP69	SO:0001583	missense	0			-	HGNC	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.622G>A	1.37:g.40960772G>A	ENSP00000361791:p.Asp208Asn	Somatic	0	71	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29	32.56	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D208N	ENST00000372706.1	37	c.622	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	G	2.760	-0.258128	0.05791	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04502	3.61;3.61	4.23	2.37	0.29283	.	0.517066	0.16268	N	0.221939	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	10	0.27785	T	0.31	-0.2144	6.204	0.20591	0.3044:0.0:0.6956:0.0	.	208	Q49AA0	ZN642_HUMAN	N	208	ENSP00000361791:D208N;ENSP00000361790:D208N	ENSP00000361790:D208N	D	+	1	0	ZNF642	40733359	0.000000	0.05858	0.068000	0.19968	0.845000	0.48019	0.159000	0.16442	0.747000	0.32809	0.563000	0.77884	GAT	-	NULL		0.363	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZFP69	protein_coding	OTTHUMT00000019082.1	G	NM_198494	-		40960772	+1	no_errors	ENST00000372705	ensembl	human	known	74_37	missense	SNP	0.006	A
SLCO3A1	28232	genome.wustl.edu	37	15	92706441	92706441	+	3'UTR	DEL	A	A	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr15:92706441delA	ENST00000318445.6	+	0	2423				SLCO3A1_ENST00000424469.2_Intron|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	AAAAGGTTCCAAAAAAAACCA	0.403																																																	0								ENSG00000176463																																			SLCO3A1	SO:0001624	3_prime_UTR_variant	0				HGNC	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.*76A>-	15.37:g.92706441delA		Somatic	0	31	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000318445.6	37	NULL	CCDS10371.1	15																																																																																			-	-		0.403	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	protein_coding	OTTHUMT00000313529.1	A	NM_013272			92706441	+1	no_errors	ENST00000555549	ensembl	human	known	74_37	rna	DEL	0.813	-
IGF2R	3482	genome.wustl.edu	37	6	160494430	160494430	+	Missense_Mutation	SNP	C	C	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr6:160494430C>G	ENST00000356956.1	+	34	5024	c.4876C>G	c.(4876-4878)Ctc>Gtc	p.L1626V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1626					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TAGGCCCATGCTCATCTCCCT	0.577																																																	0								ENSG00000197081						146.0	119.0	128.0					6																	160494430		2203	4300	6503	IGF2R	SO:0001583	missense	0			-	HGNC	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4876C>G	6.37:g.160494430C>G	ENSP00000349437:p.Leu1626Val	Somatic	0	52	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.L1626V	ENST00000356956.1	37	c.4876	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476752	0.44044	.	.	ENSG00000197081	ENST00000356956	T	0.02579	4.24	5.3	4.41	0.53225	Mannose-6-phosphate receptor, binding (1);	0.287860	0.34411	N	0.003993	T	0.02649	0.0080	M	0.64404	1.975	0.58432	D	0.999999	P	0.35714	0.517	B	0.39660	0.306	T	0.45571	-0.9252	10	0.44086	T	0.13	-21.6089	12.5073	0.55987	0.0:0.8706:0.0:0.1294	.	1626	P11717	MPRI_HUMAN	V	1626	ENSP00000349437:L1626V	ENSP00000349437:L1626V	L	+	1	0	IGF2R	160414420	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	3.345000	0.52182	2.639000	0.89480	0.561000	0.74099	CTC	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	protein_coding	OTTHUMT00000042931.1	C	NM_000876	-		160494430	+1	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	SNP	1.000	G
PRMT1	3276	genome.wustl.edu	37	19	50185281	50185281	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr19:50185281T>C	ENST00000391851.4	+	3	382	c.253T>C	c.(253-255)Tgc>Cgc	p.C85R	PRMT1_ENST00000532489.1_Missense_Mutation_p.C57R|MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000454376.2_Missense_Mutation_p.C103R	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	93	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CGGCATCCTCTGCATGTTTGC	0.657																																																	0								ENSG00000126457						44.0	44.0	44.0					19																	50185281		2203	4300	6503	PRMT1	SO:0001583	missense	0			-	HGNC	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.253T>C	19.37:g.50185281T>C	ENSP00000375724:p.Cys85Arg	Somatic	0	90	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.C103R	ENST00000391851.4	37	c.307	CCDS42592.1	19	.	.	.	.	.	.	.	.	.	.	T	15.24	2.775091	0.49786	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	T;T;T;T;T;T;T;T;T	0.76060	1.94;1.94;1.94;1.94;1.94;1.94;-0.99;1.94;-0.99	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.67145	0.996;0.972;0.989;0.98	D;P;P;P	0.66979	0.948;0.858;0.827;0.76	D	0.89226	0.3574	10	0.87932	D	0	0.0031	12.7696	0.57412	0.0:0.0:0.0:1.0	.	93;57;85;79	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	R	57;57;57;57;85;79;103;79;57;82	ENSP00000432349:C57R;ENSP00000433556:C57R;ENSP00000432538:C57R;ENSP00000431957:C57R;ENSP00000375724:C85R;ENSP00000406162:C103R;ENSP00000437273:C79R;ENSP00000432788:C57R;ENSP00000436732:C82R	ENSP00000375724:C85R	C	+	1	0	PRMT1	54877093	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	5.882000	0.69714	2.124000	0.65301	0.523000	0.50628	TGC	-	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2		0.657	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT1	protein_coding	OTTHUMT00000395065.1	T	NM_001536	-		50185281	+1	no_errors	ENST00000454376	ensembl	human	known	74_37	missense	SNP	1.000	C
GRAMD2	196996	genome.wustl.edu	37	15	72459382	72459382	+	Missense_Mutation	SNP	G	G	A	rs141536149	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr15:72459382G>A	ENST00000309731.7	-	6	437	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	142						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGAAGGAGCCGTGCCATCTTG	0.572																																																	0								ENSG00000175318	G	TRP/ARG	1,4397	2.1+/-5.4	0,1,2198	201.0	142.0	162.0		424	3.5	0.8	15	dbSNP_134	162	2,8592	2.2+/-6.3	0,2,4295	yes	missense	GRAMD2	NM_001012642.2	101	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	142/355	72459382	3,12989	2199	4297	6496	GRAMD2	SO:0001583	missense	0			-	HGNC	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.424C>T	15.37:g.72459382G>A	ENSP00000311657:p.Arg142Trp	Somatic	0	93	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	B3KT68	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GRAM,smart_GRAM	p.R142W	ENST00000309731.7	37	c.424	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924437	0.73213	2.27E-4	2.33E-4	ENSG00000175318	ENST00000309731	T	0.35048	1.33	5.62	3.55	0.40652	.	0.054690	0.85682	D	0.000000	T	0.41581	0.1165	N	0.22421	0.69	0.43617	D	0.995997	D	0.89917	1.0	D	0.78314	0.991	T	0.19745	-1.0296	10	0.37606	T	0.19	.	10.484	0.44711	0.0769:0.0:0.7817:0.1414	.	142	Q8IUY3	GRAM2_HUMAN	W	142	ENSP00000311657:R142W	ENSP00000311657:R142W	R	-	1	2	GRAMD2	70246436	1.000000	0.71417	0.839000	0.33178	0.995000	0.86356	3.951000	0.56684	1.376000	0.46267	0.561000	0.74099	CGG	-	NULL		0.572	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	protein_coding	OTTHUMT00000420040.1	G	NM_001012642	rs141536149		72459382	-1	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	SNP	0.731	A
GLIPR1L1	256710	genome.wustl.edu	37	12	75728540	75728540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:75728540G>A	ENST00000378695.4	+	1	122	c.32G>A	c.(31-33)tGg>tAg	p.W11*	GLIPR1L1_ENST00000312442.2_Nonsense_Mutation_p.W11*|CAPS2_ENST00000442339.2_Intron			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	11					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGTTGTTTATGGATCTTGGGT	0.493											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000173401						141.0	137.0	139.0					12																	75728540		2203	4300	6503	GLIPR1L1	SO:0001587	stop_gained	0			-	HGNC	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.32G>A	12.37:g.75728540G>A	ENSP00000367967:p.Trp11*	Somatic	0	79	0.00	1162	0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	136	22.29	Q96L06	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.W11*	ENST00000378695.4	37	c.32		12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031109	0.93575	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	.	.	.	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	14.7828	0.69779	0.0:0.0:1.0:0.0	.	.	.	.	X	11	.	ENSP00000310770:W11X	W	+	2	0	GLIPR1L1	74014807	0.999000	0.42202	0.612000	0.29024	0.027000	0.11550	2.075000	0.41538	2.225000	0.72522	0.563000	0.77884	TGG	-	NULL		0.493	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	protein_coding	OTTHUMT00000405714.1	G	NM_152779	-		75728540	+1	no_errors	ENST00000378695	ensembl	human	known	74_37	nonsense	SNP	0.980	A
ZNF259P1	442240	genome.wustl.edu	37	6	109107306	109107306	+	RNA	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr6:109107306G>T	ENST00000572422.1	-	0	934									zinc finger protein 259 pseudogene 1																		GAGGTCTCTGGTCATATCTGA	0.507																																																	0								ENSG00000219565																																			ZNF259P1			0			-	HGNC	Z95118		6q21	2012-10-05	2009-11-20	2009-11-20	ENSG00000219565	ENSG00000219565			13052	pseudogene	pseudogene			"""zinc finger protein 259, pseudogene"""	ZNF259P			Standard	NG_009460		Approved	354J5			OTTHUMG00000016136		6.37:g.109107306G>T		Somatic	0	36	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000572422.1	37	NULL		6																																																																																			-	-		0.507	ZNF259P1-002	KNOWN	basic	processed_transcript	ZNF259P1	pseudogene	OTTHUMT00000436273.1	G	NG_009460	-		109107306	-1	no_errors	ENST00000572422	ensembl	human	known	74_37	rna	SNP	1.000	T
GBP1	2633	genome.wustl.edu	37	1	89520439	89520439	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:89520439G>T	ENST00000370473.4	-	10	1810	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	531					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTCAGTCAGTTGTTTCAAG	0.448																																																	0								ENSG00000117228						325.0	330.0	328.0					1																	89520439		2203	4300	6503	GBP1	SO:0001583	missense	0			-	HGNC	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1591C>A	1.37:g.89520439G>T	ENSP00000359504:p.Leu531Met	Somatic	0	65	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	D3DT26|Q5T8M1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.L531M	ENST00000370473.4	37	c.1591	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586815	0.28268	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.04502	3.61	4.67	-7.83	0.01201	Guanylate-binding protein, C-terminal (3);	0.522858	0.18397	N	0.142474	T	0.03305	0.0096	M	0.79343	2.45	0.09310	N	0.999998	P	0.46987	0.888	P	0.51193	0.662	T	0.00915	-1.1516	10	0.48119	T	0.1	.	6.1669	0.20396	0.2834:0.0:0.4816:0.235	.	531	P32455	GBP1_HUMAN	M	531;494	ENSP00000359504:L531M	ENSP00000359504:L531M	L	-	1	2	GBP1	89293027	0.000000	0.05858	0.013000	0.15412	0.416000	0.31233	-1.336000	0.02660	-1.141000	0.02873	0.491000	0.48974	CTG	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	protein_coding	OTTHUMT00000029289.3	G	NM_002053	-		89520439	-1	no_errors	ENST00000370473	ensembl	human	known	74_37	missense	SNP	0.003	T
TMEM165	55858	genome.wustl.edu	37	4	56291555	56291555	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:56291555G>T	ENST00000381334.5	+	6	1144	c.911G>T	c.(910-912)gGa>gTa	p.G304V	TMEM165_ENST00000506198.1_Missense_Mutation_p.G109V|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Missense_Mutation_p.G241V	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	304			G -> R (in CDG2K; accumulates in Golgi compartment). {ECO:0000269|PubMed:22683087}.		cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			ACAATCATAGGAGGCATCGTT	0.358																																																	0								ENSG00000134851						219.0	205.0	210.0					4																	56291555		2203	4299	6502	TMEM165	SO:0001583	missense	0			-	HGNC	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.911G>T	4.37:g.56291555G>T	ENSP00000370736:p.Gly304Val	Somatic	0	75	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UPF0016	p.G304V	ENST00000381334.5	37	c.911	CCDS3499.1	4	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873773	0.72180	.	.	ENSG00000134851	ENST00000381334;ENST00000506198;ENST00000542052	D;D;D	0.82081	-1.57;-1.57;-1.57	5.26	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.92231	0.7536	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93696	0.7011	10	0.72032	D	0.01	-20.78	15.9438	0.79779	0.0:0.1356:0.8644:0.0	.	241;304	B4DHW1;Q9HC07	.;TM165_HUMAN	V	304;109;241	ENSP00000370736:G304V;ENSP00000425449:G109V;ENSP00000437816:G241V	ENSP00000370736:G304V	G	+	2	0	TMEM165	55986312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.471000	0.90403	1.304000	0.44892	0.557000	0.71058	GGA	-	pfam_UPF0016		0.358	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	protein_coding	OTTHUMT00000250646.4	G	NM_018475	-		56291555	+1	no_errors	ENST00000381334	ensembl	human	known	74_37	missense	SNP	1.000	T
CRTAP	10491	genome.wustl.edu	37	3	33171441	33171441	+	Silent	SNP	A	A	G	rs137853945		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:33171441A>G	ENST00000320954.6	+	4	903	c.804A>G	c.(802-804)gtA>gtG	p.V268V	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	268					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ATCATTATGTAGAAGTTCTGG	0.373																																																	0								ENSG00000170275						130.0	128.0	128.0					3																	33171441		2203	4300	6503	CRTAP	SO:0001819	synonymous_variant	0			-	HGNC	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.804A>G	3.37:g.33171441A>G		Somatic	0	59	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B2RBL6	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V268	ENST00000320954.6	37	c.804	CCDS2657.1	3																																																																																			-	NULL		0.373	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	protein_coding	OTTHUMT00000253246.3	A		-		33171441	+1	no_errors	ENST00000320954	ensembl	human	known	74_37	silent	SNP	0.013	G
PDE11A	50940	genome.wustl.edu	37	2	178592479	178592479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:178592479C>T	ENST00000286063.6	-	12	2267	c.1950G>A	c.(1948-1950)tgG>tgA	p.W650*	PDE11A_ENST00000409504.1_Nonsense_Mutation_p.W292*|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000389683.3_Nonsense_Mutation_p.W206*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.W400*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.W292*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	650	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGTCAAAAGCCACCTACACA	0.468									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0								ENSG00000128655						145.0	126.0	133.0					2																	178592479		2203	4300	6503	PDE11A	SO:0001587	stop_gained	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	-	HGNC	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1950G>A	2.37:g.178592479C>T	ENSP00000286063:p.Trp650*	Somatic	0	79	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	54	10.00	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.W650*	ENST00000286063.6	37	c.1950	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.714517|5.714517	0.96830|0.96830	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000433879|ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48205|.	0.1487|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37502|.	-0.9703|.	4|.	.|0.02654	.|T	.|1	.|.	19.773|19.773	0.96379|0.96379	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	258|650;400;292;206;292	.|.	.|ENSP00000286063:W650X	G|W	-|-	2|3	0|0	PDE11A|PDE11A	178300725|178300725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	7.484000|7.484000	0.81180|0.81180	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	GGC|TGG	-	NULL		0.468	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	protein_coding	OTTHUMT00000334313.2	C		-		178592479	-1	no_errors	ENST00000286063	ensembl	human	known	74_37	nonsense	SNP	1.000	T
RNF216	54476	genome.wustl.edu	37	7	5780626	5780626	+	Missense_Mutation	SNP	A	A	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:5780626A>G	ENST00000425013.2	-	4	1075	c.851T>C	c.(850-852)gTt>gCt	p.V284A	RNF216_ENST00000389902.3_Missense_Mutation_p.V341A	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	284					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTAGTTCAACGAGCTCTTG	0.363																																																	0								ENSG00000011275						55.0	58.0	57.0					7																	5780626		2203	4300	6503	RNF216	SO:0001583	missense	0			-	HGNC	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.851T>C	7.37:g.5780626A>G	ENSP00000404602:p.Val284Ala	Somatic	0	40	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	11	56.00	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C6HC	p.V341A	ENST00000425013.2	37	c.1022	CCDS34595.1	7	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780780	0.31502	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.52526	0.66;0.73	5.97	5.97	0.96955	.	0.648102	0.15048	N	0.283463	T	0.39332	0.1074	L	0.29908	0.895	0.25307	N	0.98923	B;B	0.23650	0.043;0.089	B;B	0.29862	0.049;0.108	T	0.36890	-0.9729	10	0.62326	D	0.03	-2.6838	9.8971	0.41324	0.9173:0.0:0.0827:0.0	.	284;341	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	A	284;341;96	ENSP00000404602:V284A;ENSP00000374552:V341A	ENSP00000374550:V284A	V	-	2	0	RNF216	5747152	0.956000	0.32656	0.938000	0.37757	0.277000	0.26821	2.452000	0.44961	2.289000	0.77006	0.459000	0.35465	GTT	-	NULL		0.363	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF216	protein_coding	OTTHUMT00000340374.1	A	NM_207111	-		5780626	-1	no_errors	ENST00000389902	ensembl	human	known	74_37	missense	SNP	0.960	G
LRRC53	100144878	genome.wustl.edu	37	1	74946127	74946127	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:74946127T>C	ENST00000294635.4	-	3	728	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	FPGT-TNNI3K_ENST00000557284.2_Intron|LRRC53_ENST00000416014.2_Missense_Mutation_p.Q205R|TNNI3K_ENST00000326637.3_Intron|TNNI3K_ENST00000370891.2_Intron			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	205						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						AAGGATTAACTGCTTCAGTGG	0.478																																																	0								ENSG00000162621																																			LRRC53	SO:0001583	missense	0			-	HGNC			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.614A>G	1.37:g.74946127T>C	ENSP00000294635:p.Gln205Arg	Somatic	0	34	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	28	34.09		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q205R	ENST00000294635.4	37	c.614		1	.	.	.	.	.	.	.	.	.	.	T	9.020	0.984550	0.18889	.	.	ENSG00000162621	ENST00000416014;ENST00000294635	T;T	0.51325	0.71;0.71	5.54	3.05	0.35203	.	0.429052	0.20863	N	0.084308	T	0.14527	0.0351	.	.	.	0.50039	D	0.999849	.	.	.	.	.	.	T	0.05566	-1.0877	7	0.08837	T	0.75	-1.0482	6.4333	0.21809	0.1454:0.0881:0.0:0.7665	.	.	.	.	R	205	ENSP00000391861:Q205R;ENSP00000294635:Q205R	ENSP00000294635:Q205R	Q	-	2	0	LRRC53	74718715	0.999000	0.42202	1.000000	0.80357	0.842000	0.47809	1.837000	0.39201	2.108000	0.64289	0.379000	0.24179	CAG	-	NULL		0.478	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	protein_coding	OTTHUMT00000026515.2	T		-		74946127	-1	no_errors	ENST00000294635	ensembl	human	novel	74_37	missense	SNP	0.621	C
NBEAL1	65065	genome.wustl.edu	37	2	203972519	203972519	+	Silent	SNP	G	G	T	rs148705424	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:203972519G>T	ENST00000449802.1	+	13	1803	c.1470G>T	c.(1468-1470)ggG>ggT	p.G490G		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	490										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAACATGGGGATTAGAATCA	0.408																																																	0								ENSG00000144426						196.0	158.0	170.0					2																	203972519		692	1591	2283	NBEAL1	SO:0001819	synonymous_variant	0			-	HGNC	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.1470G>T	2.37:g.203972519G>T		Somatic	0	89	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	27	44.90	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G490	ENST00000449802.1	37	c.1470	CCDS46495.1	2																																																																																			-	superfamily_ARM-type_fold		0.408	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	protein_coding	OTTHUMT00000333982.4	G		-		203972519	+1	no_errors	ENST00000449802	ensembl	human	known	74_37	silent	SNP	0.910	T
PCF11	51585	genome.wustl.edu	37	11	82896644	82896644	+	3'UTR	DEL	T	T	-	rs141819514	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:82896644delT	ENST00000298281.4	+	0	5828				RP11-727A23.4_ENST00000528133.1_RNA|RP11-727A23.11_ENST00000602322.1_lincRNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTAAAGGTGATTTTTTTTTTA	0.264													|||unknown(HR)	568	0.113419	0.1853	0.0735	5008	,	,		15218	0.0575		0.0845	False		,,,				2504	0.1319																0								ENSG00000269939																																			RP11-727A23.11	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.*708T>-	11.37:g.82896644delT		Somatic	0	45	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	21	8.70	A6H8W7|O43671|Q6P0X8	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000298281.4	37	NULL	CCDS44689.1	11																																																																																			-	-		0.264	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269939	protein_coding	OTTHUMT00000392548.2	T	NM_015885			82896644	-1	no_errors	ENST00000602322	ensembl	human	known	74_37	rna	DEL	1.000	-
MKI67	4288	genome.wustl.edu	37	10	129914188	129914188	+	Missense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:129914188C>T	ENST00000368654.3	-	7	859	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	162					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTTTGACATTCTTGATA	0.403																																																	0								ENSG00000148773						192.0	183.0	186.0					10																	129914188		2203	4300	6503	MKI67	SO:0001583	missense	0			-	HGNC	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.484G>A	10.37:g.129914188C>T	ENSP00000357643:p.Val162Ile	Somatic	0	57	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q5VWH2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.V162I	ENST00000368654.3	37	c.484	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.208	0.799697	0.16397	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.23348	1.91	3.69	-0.334	0.12666	.	1.000480	0.08067	N	0.999283	T	0.13072	0.0317	N	0.19112	0.55	0.09310	N	1	B	0.32781	0.384	B	0.30251	0.113	T	0.28996	-1.0026	9	.	.	.	.	4.0221	0.09670	0.0:0.3813:0.2549:0.3638	.	162	P46013	KI67_HUMAN	I	162	ENSP00000357643:V162I	.	V	-	1	0	MKI67	129804178	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.422000	0.07043	-0.051000	0.13334	-0.140000	0.14226	GTC	-	NULL		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	protein_coding	OTTHUMT00000050999.1	C	NM_002417	-		129914188	-1	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	SNP	0.000	T
INHBA	3624	genome.wustl.edu	37	7	41729121	41729121	+	3'UTR	SNP	G	G	T	rs202220254		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:41729121G>T	ENST00000242208.4	-	0	1654				AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A						activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|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)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						gtttttttttgtttttttttt	0.308										TSP Lung(11;0.080)																																							0								ENSG00000122641																																			INHBA	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.*127C>A	7.37:g.41729121G>T		Somatic	0	51	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	41	10.87	Q14599	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000242208.4	37	NULL	CCDS5464.1	7																																																																																			-	-		0.308	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	protein_coding	OTTHUMT00000250793.1	G		-		41729121	-1	no_errors	ENST00000464515	ensembl	human	known	74_37	rna	SNP	0.000	T
DOCK3	1795	genome.wustl.edu	37	3	51315040	51315040	+	Splice_Site	SNP	A	A	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:51315040A>T	ENST00000266037.9	+	26	2701	c.2678A>T	c.(2677-2679)gAg>gTg	p.E893V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	893					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCGCTCCAGGAGGCAGATGTC	0.547																																																	0								ENSG00000088538						66.0	65.0	66.0					3																	51315040		2136	4252	6388	DOCK3	SO:0001630	splice_region_variant	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2677-1A>T	3.37:g.51315040A>T		Somatic	0	42	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	O15017	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E893V	ENST00000266037.9	37	c.2678	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338643	0.60963	.	.	ENSG00000088538	ENST00000266037	T	0.66995	-0.24	5.36	5.36	0.76844	.	0.096565	0.64402	D	0.000001	T	0.63885	0.2549	M	0.68952	2.095	0.80722	D	1	B	0.28439	0.212	B	0.23275	0.045	T	0.61623	-0.7025	10	0.27082	T	0.32	.	15.6687	0.77255	1.0:0.0:0.0:0.0	.	893	Q8IZD9	DOCK3_HUMAN	V	893	ENSP00000266037:E893V	ENSP00000266037:E893V	E	+	2	0	DOCK3	51290080	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.109000	0.94291	2.176000	0.68965	0.477000	0.44152	GAG	-	superfamily_ARM-type_fold		0.547	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	A	NM_004947	-	Missense_Mutation	51315040	+1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	T
SOX12	6666	genome.wustl.edu	37	20	307372	307372	+	Silent	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr20:307372C>T	ENST00000342665.2	+	1	1134	c.804C>T	c.(802-804)agC>agT	p.S268S	SOX12_ENST00000544632.1_Silent_p.S268S|RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	268					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGGACTGCAGCGCCCTGGATC	0.701																																																	0								ENSG00000177732						18.0	21.0	20.0					20																	307372		2192	4296	6488	SOX12	SO:0001819	synonymous_variant	0			-	HGNC	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.804C>T	20.37:g.307372C>T		Somatic	0	35	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	Q5D038|Q9NUD4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.S268	ENST00000342665.2	37	c.804	CCDS12995.1	20																																																																																			-	pirsf_SOX-12/11/4a		0.701	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	protein_coding	OTTHUMT00000077435.2	C	NM_006943	-		307372	+1	no_errors	ENST00000342665	ensembl	human	known	74_37	silent	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228466604	228466604	+	Silent	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:228466604C>T	ENST00000422127.1	+	26	7118	c.7074C>T	c.(7072-7074)acC>acT	p.T2358T	OBSCN_ENST00000284548.11_Silent_p.T2358T|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000570156.2_Silent_p.T2787T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.T1205T|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2358	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGAGGACACCTACACCTGTG	0.597																																																	0								ENSG00000154358						64.0	67.0	66.0					1																	228466604		2170	4255	6425	OBSCN	SO:0001819	synonymous_variant	0			-	HGNC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7074C>T	1.37:g.228466604C>T		Somatic	0	64	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	33	36.54	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T2358	ENST00000422127.1	37	c.7074	CCDS58065.1	1																																																																																			-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228466604	+1	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	SNP	0.286	T
FAM65A	79567	genome.wustl.edu	37	16	67578910	67578910	+	Missense_Mutation	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr16:67578910G>A	ENST00000379312.3	+	17	3054	c.2933G>A	c.(2932-2934)tGc>tAc	p.C978Y	FAM65A_ENST00000042381.4_Missense_Mutation_p.C974Y|FAM65A_ENST00000428437.2_Missense_Mutation_p.C988Y|FAM65A_ENST00000540839.3_Missense_Mutation_p.C993Y|CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.C994Y	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	978						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TGGGACCAGTGCACAGAGAGA	0.632																																																	0								ENSG00000039523						147.0	148.0	147.0					16																	67578910		2198	4300	6498	FAM65A	SO:0001583	missense	0			-	HGNC	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2933G>A	16.37:g.67578910G>A	ENSP00000368614:p.Cys978Tyr	Somatic	0	54	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.C994Y	ENST00000379312.3	37	c.2981	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264689	0.59431	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	D;D;D	0.85484	-1.99;-1.99;-1.99	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	M	0.77820	2.39	0.47778	D	0.999519	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	D	0.93134	0.6535	10	0.87932	D	0	-12.7619	17.4594	0.87616	0.0:0.0:1.0:0.0	.	988;994;978	B4DIM2;E9PBS3;Q6ZS17	.;.;FA65A_HUMAN	Y	978;974;994;988	ENSP00000368614:C978Y;ENSP00000042381:C974Y;ENSP00000400099:C994Y	ENSP00000042381:C974Y	C	+	2	0	FAM65A	66136411	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.247000	0.78257	2.567000	0.86603	0.655000	0.94253	TGC	-	NULL		0.632	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	G	NM_024519	-		67578910	+1	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	SNP	1.000	A
RELB	5971	genome.wustl.edu	37	19	45506246	45506246	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr19:45506246G>T	ENST00000221452.8	+	2	296	c.146G>T	c.(145-147)aGg>aTg	p.R49M	RELB_ENST00000505236.1_Missense_Mutation_p.R49M|RELB_ENST00000540120.1_Missense_Mutation_p.R49M	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	49	Leucine-zipper.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCGTTTCCAGGAGCACAGGT	0.597																																																	0								ENSG00000104856						40.0	44.0	43.0					19																	45506246		2024	4193	6217	RELB	SO:0001583	missense	0			-	HGNC	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.146G>T	19.37:g.45506246G>T	ENSP00000221452:p.Arg49Met	Somatic	0	47	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39	Q6GTX7|Q9UEI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R49M	ENST00000221452.8	37	c.146	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960904	0.53400	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.50813	0.73;0.73;0.8	4.39	4.39	0.52855	.	0.275088	0.26492	N	0.024080	T	0.53786	0.1818	L	0.27053	0.805	0.34899	D	0.74631	D	0.76494	0.999	D	0.74674	0.984	T	0.65340	-0.6192	10	0.66056	D	0.02	-20.9474	12.8224	0.57700	0.0:0.0:1.0:0.0	.	49	D6R992	.	M	49	ENSP00000221452:R49M;ENSP00000445542:R49M;ENSP00000423287:R49M	ENSP00000221452:R49M	R	+	2	0	RELB	50198086	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.233000	0.58651	2.473000	0.83533	0.644000	0.83932	AGG	-	NULL		0.597	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	protein_coding	OTTHUMT00000367361.2	G		-		45506246	+1	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	SNP	1.000	T
TRPM2	7226	genome.wustl.edu	37	21	45811481	45811481	+	Silent	SNP	G	G	A	rs374884120		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr21:45811481G>A	ENST00000397928.1	+	11	2212	c.1767G>A	c.(1765-1767)ctG>ctA	p.L589L	TRPM2_ENST00000397932.2_Silent_p.L589L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.L589L|TRPM2_ENST00000300481.9_Silent_p.L569L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	589					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCGGCTCCTGCTGCCCGTTC	0.647																																																	0								ENSG00000142185						8.0	10.0	9.0					21																	45811481		2060	4096	6156	TRPM2	SO:0001819	synonymous_variant	0			-	HGNC	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1767G>A	21.37:g.45811481G>A		Somatic	0	50	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.L589	ENST00000397928.1	37	c.1767	CCDS13710.1	21																																																																																			-	NULL		0.647	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	protein_coding	OTTHUMT00000098086.1	G	NM_003307	-		45811481	+1	no_errors	ENST00000300482	ensembl	human	known	74_37	silent	SNP	0.003	A
OR4S1	256148	genome.wustl.edu	37	11	48328651	48328651	+	Frame_Shift_Del	DEL	A	A	-	rs190348305		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:48328651delA	ENST00000319988.1	+	1	877	c.877delA	c.(877-879)aaafs	p.K293fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CAACGATGTGAAAAATGCCAT	0.448																																																	0								ENSG00000176555						79.0	73.0	75.0					11																	48328651		2201	4298	6499	OR4S1	SO:0001589	frameshift_variant	0				HGNC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.877delA	11.37:g.48328651delA	ENSP00000321447:p.Lys293fs	Somatic	0	30	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q6IFB4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N294fs	ENST00000319988.1	37	c.877	CCDS31488.1	11																																																																																			-	NULL		0.448	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	protein_coding	OTTHUMT00000390556.1	A	NM_001004725			48328651	+1	no_errors	ENST00000319988	ensembl	human	known	74_37	frame_shift_del	DEL	0.411	-
FAM160A1	729830	genome.wustl.edu	37	4	152498908	152498908	+	Missense_Mutation	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:152498908C>A	ENST00000505231.1	+	3	571	c.412C>A	c.(412-414)Ccc>Acc	p.P138T	FAM160A1_ENST00000435205.1_Missense_Mutation_p.P138T|RN7SKP35_ENST00000517210.1_RNA			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	138										endometrium(2)|kidney(1)	3						GCACCACAAACCCATTCTGAA	0.493																																																	0								ENSG00000164142						103.0	90.0	94.0					4																	152498908		692	1591	2283	FAM160A1	SO:0001583	missense	0			-	HGNC		CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.412C>A	4.37:g.152498908C>A	ENSP00000421580:p.Pro138Thr	Somatic	0	63	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	Q6ZUS2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RetinoicA-induced_16-like	p.P138T	ENST00000505231.1	37	c.412	CCDS47146.1	4	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548027	0.86022	.	.	ENSG00000164142	ENST00000435205;ENST00000505231	T;T	0.29917	1.55;1.55	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.73962	2.25	0.80722	D	1	P	0.51240	0.943	P	0.60415	0.874	T	0.50849	-0.8779	9	.	.	.	-29.1994	20.0607	0.97674	0.0:1.0:0.0:0.0	.	138	Q05DH4	F16A1_HUMAN	T	138	ENSP00000413196:P138T;ENSP00000421580:P138T	.	P	+	1	0	FAM160A1	152718358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	CCC	-	pfam_RetinoicA-induced_16-like		0.493	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160A1	protein_coding	OTTHUMT00000365691.1	C	NM_001109977	-		152498908	+1	no_errors	ENST00000435205	ensembl	human	known	74_37	missense	SNP	1.000	A
DAPK2	23604	genome.wustl.edu	37	15	64204333	64204333	+	Missense_Mutation	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr15:64204333T>C	ENST00000457488.1	-	10	952	c.922A>G	c.(922-924)Aag>Gag	p.K308E	DAPK2_ENST00000261891.3_Missense_Mutation_p.K308E	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	308	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACATACTGCTTCCTGAAGTTC	0.627																																																	0								ENSG00000035664						75.0	60.0	65.0					15																	64204333		2203	4300	6503	DAPK2	SO:0001583	missense	0			-	HGNC	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.922A>G	15.37:g.64204333T>C	ENSP00000408277:p.Lys308Glu	Somatic	0	70	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,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.K308E	ENST00000457488.1	37	c.922	CCDS10188.1	15	.	.	.	.	.	.	.	.	.	.	T	19.35	3.811318	0.70797	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.69040	-0.37;-0.37	5.15	5.15	0.70609	Protein kinase-like domain (1);	0.093975	0.41001	D	0.000963	T	0.60779	0.2295	L	0.55481	1.735	0.42665	D	0.993493	P	0.34757	0.467	B	0.32677	0.15	T	0.64601	-0.6369	10	0.52906	T	0.07	.	12.3647	0.55222	0.0:0.0:0.0:1.0	.	308	Q9UIK4	DAPK2_HUMAN	E	308	ENSP00000261891:K308E;ENSP00000408277:K308E	ENSP00000261891:K308E	K	-	1	0	DAPK2	61991386	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.588000	0.60999	1.940000	0.56252	0.496000	0.49642	AAG	-	superfamily_Kinase-like_dom		0.627	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	protein_coding	OTTHUMT00000256479.1	T	NM_014326	-		64204333	-1	no_errors	ENST00000261891	ensembl	human	known	74_37	missense	SNP	1.000	C
SDHAP3	728609	genome.wustl.edu	37	5	1589412	1589412	+	RNA	SNP	A	A	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:1589412A>G	ENST00000436493.2	-	0	466									succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3																		CCATCAGCAAATCTCAATTTG	0.438																																																	0								ENSG00000185986																																			SDHAP3			0			-	HGNC			5p15.33	2014-03-20	2006-11-21	2006-11-21	ENSG00000185986	ENSG00000185986			18781	pseudogene	pseudogene	"""similar to succinate dehydrogenase flavoprotein subunit"""		"""succinate dehydrogenase complex, subunit A, flavoprotein-like"", ""SDHA C-terminal like"""	SDHAL, SDHACL			Standard	NR_003263		Approved		uc011cmd.2		OTTHUMG00000161733		5.37:g.1589412A>G		Somatic	0	111	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.27		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000436493.2	37	NULL		5																																																																																			-	-		0.438	SDHAP3-002	KNOWN	basic	processed_transcript	SDHAP3	pseudogene	OTTHUMT00000365894.1	A		-		1589412	-1	no_errors	ENST00000436493	ensembl	human	known	74_37	rna	SNP	1.000	G
KCTD10	83892	genome.wustl.edu	37	12	109895815	109895816	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:109895815_109895816delAA	ENST00000228495.6	-	4	736_737	c.455_456delTT	c.(454-456)cttfs	p.L152fs	KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000540411.1_Frame_Shift_Del_p.L149fs	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	152					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AAGTCGCTATAAGTTTTTGTTC	0.396																																																	0								ENSG00000110906																																			KCTD10	SO:0001589	frameshift_variant	0				HGNC	BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.455_456delTT	12.37:g.109895815_109895816delAA	ENSP00000228495:p.Leu152fs	Somatic	0	70	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L152fs	ENST00000228495.6	37	c.456_455	CCDS9128.1	12																																																																																			-	NULL		0.396	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	protein_coding	OTTHUMT00000403099.1	AA	NM_031954			109895816	-1	no_errors	ENST00000228495	ensembl	human	known	74_37	frame_shift_del	DEL	0.921:1.000	-
ATP13A4	84239	genome.wustl.edu	37	3	193130047	193130047	+	Missense_Mutation	SNP	A	A	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr3:193130047A>C	ENST00000342695.4	-	27	3450	c.3128T>G	c.(3127-3129)tTc>tGc	p.F1043C	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.F1024C|ATP13A4_ENST00000400270.2_Missense_Mutation_p.F59C	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1043						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTTCCCAAGAACCAGACTGT	0.393																																																	0								ENSG00000127249						242.0	234.0	237.0					3																	193130047		2203	4300	6503	ATP13A4	SO:0001583	missense	0			-	HGNC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3128T>G	3.37:g.193130047A>C	ENSP00000339182:p.Phe1043Cys	Somatic	0	65	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.F1043C	ENST00000342695.4	37	c.3128	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027122	0.75390	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	D;D;D	0.92595	-3.07;-3.07;-3.07	5.7	5.7	0.88788	.	0.087250	0.49916	D	0.000128	D	0.92028	0.7474	L	0.33485	1.01	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	D	0.91407	0.5148	10	0.37606	T	0.19	-24.6051	13.9317	0.64001	1.0:0.0:0.0:0.0	.	1043	Q4VNC1	AT134_HUMAN	C	59;1024;1043	ENSP00000383129:F59C;ENSP00000376238:F1024C;ENSP00000339182:F1043C	ENSP00000339182:F1043C	F	-	2	0	ATP13A4	194612741	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.084000	0.50143	2.185000	0.69588	0.528000	0.53228	TTC	-	tigrfam_ATPase_P-typ_Cation_typ_V		0.393	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	protein_coding	OTTHUMT00000157244.4	A	NM_032279	-		193130047	-1	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	SNP	1.000	C
PGS1	9489	genome.wustl.edu	37	17	76399989	76399989	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:76399989G>T	ENST00000262764.6	+	7	1247	c.1221G>T	c.(1219-1221)caG>caT	p.Q407H	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Missense_Mutation_p.Q272H	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	407					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)			CTGAGTACCAGATCCTGCTGG	0.617																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000087157						76.0	79.0	78.0					17																	76399989		1987	4144	6131	PGS1	SO:0001583	missense	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.1221G>T	17.37:g.76399989G>T	ENSP00000262764:p.Gln407His	Somatic	0	73	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.Q407H	ENST00000262764.6	37	c.1221	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	G	6.649	0.488160	0.12641	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	D;D	0.91577	-2.87;-2.87	5.59	1.14	0.20703	.	0.261386	0.37906	N	0.001881	T	0.69269	0.3092	N	0.01352	-0.895	0.36733	D	0.88182	B	0.06786	0.001	B	0.04013	0.001	T	0.61312	-0.7088	10	0.36615	T	0.2	-22.1451	4.4002	0.11383	0.1429:0.1924:0.5495:0.1153	.	407	Q32NB8	PGPS1_HUMAN	H	407;272	ENSP00000262764:Q407H;ENSP00000330039:Q272H	ENSP00000262764:Q407H	Q	+	3	2	PGS1	73911584	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	0.217000	0.17603	0.722000	0.32252	0.563000	0.77884	CAG	-	pirsf_PLipase-D_PtdSer-synthase-type		0.617	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	protein_coding	OTTHUMT00000437301.1	G	NM_024419	-		76399989	+1	no_errors	ENST00000262764	ensembl	human	known	74_37	missense	SNP	0.998	T
ADH6	130	genome.wustl.edu	37	4	100131256	100131256	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr4:100131256delC	ENST00000237653.7	-	5	934	c.550delG	c.(550-552)gcafs	p.A184fs	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Frame_Shift_Del_p.A184fs|ADH6_ENST00000394899.2_Frame_Shift_Del_p.A184fs	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	184					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GTATTGATTGCAGCACCAAAC	0.438																																																	0								ENSG00000172955						104.0	99.0	101.0					4																	100131256		2203	4300	6503	ADH6	SO:0001589	frameshift_variant	0				HGNC	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.550delG	4.37:g.100131256delC	ENSP00000237653:p.Ala184fs	Somatic	0	45	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B3KS45|Q58F53	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.A184fs	ENST00000237653.7	37	c.550	CCDS3647.1	4																																																																																			-	superfamily_GroES-like,smart_PKS_ER		0.438	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	protein_coding	OTTHUMT00000253665.1	C	NM_000672			100131256	-1	no_errors	ENST00000394899	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
ZNF341	84905	genome.wustl.edu	37	20	32346565	32346565	+	Silent	SNP	T	T	C			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr20:32346565T>C	ENST00000375200.1	+	7	1346	c.981T>C	c.(979-981)tgT>tgC	p.C327C	ZNF341_ENST00000342427.2_Silent_p.C320C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCATACTGTGACAAGTCAT	0.557																																																	0								ENSG00000131061						96.0	73.0	81.0					20																	32346565		2203	4300	6503	ZNF341	SO:0001819	synonymous_variant	0			-	HGNC	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.981T>C	20.37:g.32346565T>C		Somatic	0	41	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C327	ENST00000375200.1	37	c.981		20																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	protein_coding		T		-		32346565	+1	no_errors	ENST00000375200	ensembl	human	known	74_37	silent	SNP	1.000	C
ZFP41	286128	genome.wustl.edu	37	8	144332442	144332442	+	Missense_Mutation	SNP	C	C	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr8:144332442C>A	ENST00000330701.4	+	2	798	c.429C>A	c.(427-429)ttC>ttA	p.F143L	ZFP41_ENST00000520584.1_Missense_Mutation_p.F143L|ZFP41_ENST00000522452.1_Missense_Mutation_p.F143L	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	143					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTTCAAATGCGGGG	0.582																																																	0								ENSG00000181638						113.0	112.0	112.0					8																	144332442		2203	4300	6503	ZFP41	SO:0001583	missense	0			-	HGNC		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.429C>A	8.37:g.144332442C>A	ENSP00000327427:p.Phe143Leu	Somatic	0	29	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	D3DWJ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F143L	ENST00000330701.4	37	c.429	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832436	0.50845	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.21932	1.98;1.98;1.98	3.2	-3.02	0.05446	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25865	0.0630	L	0.59912	1.85	0.09310	N	1	P	0.52170	0.951	P	0.48704	0.587	T	0.25117	-1.0141	9	0.87932	D	0	-9.3802	9.9525	0.41647	0.0:0.6476:0.0:0.3524	.	143	Q8N8Y5	ZFP41_HUMAN	L	143	ENSP00000430465:F143L;ENSP00000327427:F143L;ENSP00000428966:F143L	ENSP00000327427:F143L	F	+	3	2	ZFP41	144403817	0.000000	0.05858	0.006000	0.13384	0.642000	0.38348	-0.176000	0.09811	-0.698000	0.05085	-0.384000	0.06662	TTC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.582	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	protein_coding	OTTHUMT00000381114.2	C	NM_173832	-		144332442	+1	no_errors	ENST00000330701	ensembl	human	known	74_37	missense	SNP	0.005	A
KANK1	23189	genome.wustl.edu	37	9	732700	732700	+	Intron	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:732700G>T	ENST00000382303.1	+	10	3897				KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Intron|KANK1_ENST00000382297.2_Intron	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGAGCTTTTGTAATTAAATG	0.403																																																	0								ENSG00000107104																																			KANK1	SO:0001627	intron_variant	0			-	HGNC	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3245+83G>T	9.37:g.732700G>T		Somatic	0	36	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000382303.1	37	NULL	CCDS34976.1	9																																																																																			-	-		0.403	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	protein_coding	OTTHUMT00000051484.2	G	NM_015158	-		732700	+1	no_errors	ENST00000489369	ensembl	human	known	74_37	rna	SNP	0.507	T
ZER1	10444	genome.wustl.edu	37	9	131515860	131515860	+	Missense_Mutation	SNP	A	A	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:131515860A>G	ENST00000291900.2	-	4	735	c.329T>C	c.(328-330)cTg>cCg	p.L110P	ZER1_ENST00000494461.1_5'UTR	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	110					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GCAGTTAGTCAGGTACAGCTC	0.607																																																	0								ENSG00000160445						42.0	44.0	43.0					9																	131515860		2203	4300	6503	ZER1	SO:0001583	missense	0			-	HGNC	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.329T>C	9.37:g.131515860A>G	ENSP00000291900:p.Leu110Pro	Somatic	0	43	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	O00156|Q5T272|Q5T273	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold,smart_Armadillo	p.L110P	ENST00000291900.2	37	c.329	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241611	0.79912	.	.	ENSG00000160445	ENST00000291900;ENST00000414921	T;T	0.37584	1.19;1.19	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.51325	-0.8720	10	0.72032	D	0.01	-15.8917	15.1338	0.72545	1.0:0.0:0.0:0.0	.	110	Q7Z7L7	ZER1_HUMAN	P	110	ENSP00000291900:L110P;ENSP00000393051:L110P	ENSP00000291900:L110P	L	-	2	0	ZER1	130555681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.473000	0.90410	2.173000	0.68751	0.533000	0.62120	CTG	-	NULL		0.607	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	protein_coding	OTTHUMT00000054491.1	A	NM_006336	-		131515860	-1	no_errors	ENST00000291900	ensembl	human	known	74_37	missense	SNP	1.000	G
ZC3H12C	85463	genome.wustl.edu	37	11	110034091	110034091	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:110034091G>T	ENST00000278590.3	+	5	1293	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.Q415H|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.Q383H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	414							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ACAAAAAGCAGCCTTGTCCAT	0.373																																																	0								ENSG00000149289						54.0	50.0	51.0					11																	110034091		1845	4085	5930	ZC3H12C	SO:0001583	missense	0			-	HGNC		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1242G>T	11.37:g.110034091G>T	ENSP00000278590:p.Gln414His	Somatic	0	59	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B4DI65|B4DR47	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RNase_Zc3h12	p.Q414H	ENST00000278590.3	37	c.1242	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432780	0.62844	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37915	1.17;1.17;1.18	5.82	4.92	0.64577	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	M	0.82630	2.6	0.46011	D	0.998816	D;D;D	0.89917	0.996;1.0;0.996	D;D;D	0.83275	0.953;0.996;0.953	T	0.66709	-0.5855	10	0.87932	D	0	-20.5556	11.2945	0.49269	0.1908:0.0:0.8092:0.0	.	415;414;414	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	414;415;383	ENSP00000278590:Q414H;ENSP00000431821:Q415H;ENSP00000413094:Q383H	ENSP00000278590:Q414H	Q	+	3	2	ZC3H12C	109539301	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.700000	0.37815	1.473000	0.48159	-0.258000	0.10820	CAG	-	NULL		0.373	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	protein_coding	OTTHUMT00000390491.1	G	NM_033390	-		110034091	+1	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	SNP	1.000	T
GCK	2645	genome.wustl.edu	37	7	44187289	44187289	+	Missense_Mutation	SNP	G	G	T	rs556436603		TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr7:44187289G>T	ENST00000403799.3	-	7	1292	c.823C>A	c.(823-825)Cgc>Agc	p.R275S	GCK_ENST00000395796.3_Missense_Mutation_p.R274S|GCK_ENST00000437084.1_Missense_Mutation_p.R258S|GCK_ENST00000345378.2_Missense_Mutation_p.R276S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	275	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCACCAGGCGGTCATACTCC	0.677																																																	0			GRCh37	CM015282	GCK	M		ENSG00000106633						66.0	67.0	67.0					7																	44187289		2203	4300	6503	GCK	SO:0001583	missense	0			-	HGNC	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.823C>A	7.37:g.44187289G>T	ENSP00000384247:p.Arg275Ser	Somatic	0	81	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R276S	ENST00000403799.3	37	c.826	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084632	0.76642	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.5	5.5	0.81552	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.86651	2.83	0.80722	D	1	P;B;P	0.50272	0.795;0.347;0.933	B;B;B	0.43386	0.322;0.103;0.418	D	0.96215	0.9156	10	0.33940	T	0.23	-33.6426	18.9928	0.92800	0.0:0.0:1.0:0.0	.	275;276;274	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	S	275;274;276;258	ENSP00000384247:R275S;ENSP00000379142:R274S;ENSP00000223366:R276S;ENSP00000402840:R258S	ENSP00000223366:R276S	R	-	1	0	GCK	44153814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.414000	0.59802	2.585000	0.87301	0.561000	0.74099	CGC	-	pfam_Hexokinase_C		0.677	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	protein_coding	OTTHUMT00000251069.2	G		-		44187289	-1	no_errors	ENST00000345378	ensembl	human	known	74_37	missense	SNP	1.000	T
TMEM123	114908	genome.wustl.edu	37	11	102323281	102323281	+	Missense_Mutation	SNP	G	G	A			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr11:102323281G>A	ENST00000398136.2	-	1	494	c.74C>T	c.(73-75)gCc>gTc	p.A25V	RP11-315O6.1_ENST00000528717.1_RNA|TMEM123_ENST00000361236.3_Missense_Mutation_p.A25V|TMEM123_ENST00000525577.1_Intron|TMEM123_ENST00000532161.1_5'Flank	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	25					oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TTCATGGGCGGCCCCCAGCAG	0.706																																																	0								ENSG00000152558						6.0	10.0	9.0					11																	102323281		1881	4018	5899	TMEM123	SO:0001583	missense	0			-	HGNC	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.74C>T	11.37:g.102323281G>A	ENSP00000381204:p.Ala25Val	Somatic	0	27	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	2	75.00	Q8IWS2|Q96QV2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A25V	ENST00000398136.2	37	c.74	CCDS41702.1	11	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635154	0.29068	.	.	ENSG00000152558	ENST00000361236;ENST00000398136	T;T	0.49432	1.5;0.78	4.16	1.94	0.25998	.	0.775945	0.10852	N	0.627002	T	0.35537	0.0935	L	0.38175	1.15	0.09310	N	0.999991	B;B	0.23891	0.035;0.093	B;B	0.18561	0.013;0.022	T	0.24977	-1.0145	10	0.48119	T	0.1	0.9557	7.5402	0.27733	0.1648:0.0:0.8352:0.0	.	25;25	Q8N131-2;Q8N131	.;PORIM_HUMAN	V	25	ENSP00000355285:A25V;ENSP00000381204:A25V	ENSP00000355285:A25V	A	-	2	0	TMEM123	101828491	0.000000	0.05858	0.017000	0.16124	0.056000	0.15407	0.052000	0.14163	0.341000	0.23771	0.591000	0.81541	GCC	-	NULL		0.706	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM123	protein_coding	OTTHUMT00000394178.1	G	NM_052932	-		102323281	-1	no_errors	ENST00000398136	ensembl	human	known	74_37	missense	SNP	0.006	A
FBXO18	84893	genome.wustl.edu	37	10	5978369	5978369	+	Intron	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr10:5978369C>T	ENST00000362091.4	+	20	2944				FBXO18_ENST00000397269.3_Intron|RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000379999.5_Intron	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTCCAGTAGACCCTAACGGAG	0.502																																																	0								ENSG00000232807						48.0	44.0	45.0					10																	5978369		2203	4300	6503	RP11-536K7.3	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2830-50C>T	10.37:g.5978369C>T		Somatic	0	40	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000362091.4	37	NULL	CCDS7072.1	10																																																																																			-	-		0.502	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232807	protein_coding	OTTHUMT00000046596.1	C	NM_032807	-		5978369	-1	no_errors	ENST00000397264	ensembl	human	known	74_37	rna	SNP	0.000	T
DPY19L2	283417	genome.wustl.edu	37	12	64057604	64057605	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr12:64057604_64057605delAA	ENST00000324472.4	-	3	566_567	c.383_384delTT	c.(382-384)tttfs	p.F128fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	128					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GATCATTTTCAAAAAGTGTTAC	0.312																																																	0								ENSG00000177990																																			DPY19L2	SO:0001589	frameshift_variant	0				HGNC		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.383_384delTT	12.37:g.64057606_64057607delAA	ENSP00000315988:p.Phe128fs	Somatic	0	64	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Dpy-19	p.F128fs	ENST00000324472.4	37	c.384_383	CCDS31851.1	12																																																																																			-	pfam_Dpy-19		0.312	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	protein_coding	OTTHUMT00000400689.2	AA	NM_173812			64057605	-1	no_errors	ENST00000324472	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-
GDAP2	54834	genome.wustl.edu	37	1	118462911	118462911	+	Missense_Mutation	SNP	G	G	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr1:118462911G>T	ENST00000369443.5	-	2	319	c.70C>A	c.(70-72)Caa>Aaa	p.Q24K	GDAP2_ENST00000369442.3_Missense_Mutation_p.Q24K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	24					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AATTCATCTTGGCATGAGTCA	0.413																																																	0								ENSG00000196505						92.0	89.0	90.0					1																	118462911		2203	4300	6503	GDAP2	SO:0001583	missense	0			-	HGNC	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.70C>A	1.37:g.118462911G>T	ENSP00000358451:p.Gln24Lys	Somatic	0	54	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54	Q96DZ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom	p.Q24K	ENST00000369443.5	37	c.70	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	0.150	-1.092069	0.01858	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.34275	1.65;1.37	5.22	3.31	0.37934	.	0.323057	0.34725	N	0.003731	T	0.05868	0.0153	N	0.11427	0.14	0.20764	N	0.999851	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40098	-0.9581	10	0.02654	T	1	-12.3506	15.1059	0.72322	0.0:0.7268:0.2732:0.0	.	24;24	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	K	24	ENSP00000358451:Q24K;ENSP00000358450:Q24K	ENSP00000358450:Q24K	Q	-	1	0	GDAP2	118264434	1.000000	0.71417	0.406000	0.26421	0.315000	0.28087	3.018000	0.49625	0.869000	0.35703	-0.153000	0.13522	CAA	-	NULL		0.413	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	protein_coding	OTTHUMT00000033732.2	G	NM_017686	-		118462911	-1	no_errors	ENST00000369443	ensembl	human	known	74_37	missense	SNP	0.779	T
DNAH17-AS1	100996295	genome.wustl.edu	37	17	76495029	76495029	+	5'UTR	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr17:76495029C>T	ENST00000598378.1	+	0	119				RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000585328.1_Intron					DNAH17 antisense RNA 1																		TGTGAGGTCACAGGAAAGCTG	0.597																																																	0								ENSG00000267432																																			RP11-559N14.5	SO:0001623	5_prime_UTR_variant	0			-	Clone_based_vega_gene			17q25.3	2014-02-12	2013-05-21		ENSG00000268470	ENSG00000267432		"""Long non-coding RNAs"""	48594	non-coding RNA	RNA, long non-coding							Standard	NR_102401		Approved				OTTHUMG00000177588	ENST00000598378.1:c.-1040C>T	17.37:g.76495029C>T		Somatic	0	47	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000598378.1	37	NULL		17																																																																																			-	-		0.597	DNAH17-AS1-201	KNOWN	basic|appris_principal	protein_coding	DNAH17-AS1	protein_coding		C		-		76495029	+1	no_errors	ENST00000591373	ensembl	human	known	74_37	rna	SNP	0.000	T
NEB	4703	genome.wustl.edu	37	2	152375544	152375544	+	Missense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:152375544C>T	ENST00000172853.10	-	127	17674	c.17527G>A	c.(17527-17529)Gtg>Atg	p.V5843M	NEB_ENST00000603639.1_Missense_Mutation_p.V7544M|NEB_ENST00000409198.1_Missense_Mutation_p.V5843M|NEB_ENST00000604864.1_Missense_Mutation_p.V7544M|NEB_ENST00000397345.3_Missense_Mutation_p.V7544M|NEB_ENST00000427231.2_Missense_Mutation_p.V7544M			P20929	NEBU_HUMAN	nebulin	5843					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCAGTCACGGGTTTGTGA	0.423																																																	0								ENSG00000183091						149.0	138.0	141.0					2																	152375544		1897	4110	6007	NEB	SO:0001583	missense	0			-	HGNC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17527G>A	2.37:g.152375544C>T	ENSP00000172853:p.Val5843Met	Somatic	0	56	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.V7544M	ENST00000172853.10	37	c.22630		2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773136	0.90108	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08807	3.17;3.17;3.17;3.05;3.17	6.03	5.13	0.70059	.	0.110139	0.64402	D	0.000009	T	0.29976	0.0750	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.91635	0.999;0.999;0.903	T	0.02766	-1.1113	10	0.38643	T	0.18	.	17.2168	0.86946	0.0:0.8741:0.1259:0.0	.	5843;7544;2274	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	M	5843;7544;7544;1892;2274;5843	ENSP00000386259:V5843M;ENSP00000380505:V7544M;ENSP00000416578:V7544M;ENSP00000410961:V2274M;ENSP00000172853:V5843M	ENSP00000172853:V5843M	V	-	1	0	NEB	152083790	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	1.509000	0.48786	0.655000	0.94253	GTG	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152375544	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	T
PRDM6	93166	genome.wustl.edu	37	5	122425971	122425972	+	In_Frame_Ins	INS	-	-	CCTCCGCCT	rs368034022|rs199942027|rs70988558	byFrequency	TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr5:122425971_122425972insCCTCCGCCT	ENST00000407847.4	+	2	676_677	c.262_263insCCTCCGCCT	c.(262-264)acc>aCCTCCGCCTcc	p.94_95insSAS	AC106786.1_ENST00000458103.2_RNA|AC106786.1_ENST00000442777.2_RNA	NM_001136239.1	NP_001129711.1	Q9NQX0	PRDM6_HUMAN	PR domain containing 6	94					negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	7						Ttcctcttccacctccgcctcc	0.782														1116	0.222843	0.2784	0.2637	5008	,	,		7182	0.0337		0.3966	False		,,,				2504	0.135																0								ENSG00000061455			191,705		83,25,340						1.8	1.0			1	597,1391		268,61,665	no	coding	PRDM6	NM_001136239.1		351,86,1005	A1A1,A1R,RR		30.0302,21.317,27.3232				788,2096				PRDM6	SO:0001652	inframe_insertion	0				HGNC	AF272898	CCDS47259.1	5q21-q23	2013-01-08			ENSG00000061455	ENSG00000061455		"""Zinc fingers, C2H2-type"""	9350	protein-coding gene	gene with protein product							Standard	NM_001136239		Approved		uc003kti.3	Q9NQX0	OTTHUMG00000150469	ENST00000407847.4:c.272_280dupCCTCCGCCT	5.37:g.122425972_122425980dupCCTCCGCCT	ENSP00000384725:p.Ser92_Ser94dup	Somatic	NA	NA	NA		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B5MCJ4|Q9NQW9	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.92in_frame_insSAS	ENST00000407847.4	37	c.262_263	CCDS47259.1	5																																																																																			-	NULL		0.782	PRDM6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM6	protein_coding	OTTHUMT00000318226.2	-	XM_049619			122425972	+1	no_errors	ENST00000407847	ensembl	human	known	74_37	in_frame_ins	INS	0.997:1.000	CCTCCGCCT
DLX1	1745	genome.wustl.edu	37	2	172950416	172950416	+	Missense_Mutation	SNP	C	C	G			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr2:172950416C>G	ENST00000361725.4	+	1	463	c.11C>G	c.(10-12)aCc>aGc	p.T4S	DLX1_ENST00000341900.6_Missense_Mutation_p.T4S	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	4					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ATGACCATGACCACCATGCCA	0.557																																																	0								ENSG00000144355						121.0	129.0	126.0					2																	172950416		2203	4300	6503	DLX1	SO:0001583	missense	0			-	HGNC	BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.11C>G	2.37:g.172950416C>G	ENSP00000354478:p.Thr4Ser	Somatic	0	75	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.T4S	ENST00000361725.4	37	c.11	CCDS2247.2	2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694032	0.48202	.	.	ENSG00000144355	ENST00000361609;ENST00000469444;ENST00000361725;ENST00000341900	D;D;D	0.95853	-3.83;-3.29;-3.02	5.59	5.59	0.84812	.	0.106857	0.64402	D	0.000005	D	0.96272	0.8784	L	0.37630	1.12	0.80722	D	1	B;D;B	0.56035	0.089;0.974;0.017	B;D;B	0.70487	0.17;0.969;0.007	D	0.95223	0.8335	10	0.32370	T	0.25	-22.3618	19.6027	0.95569	0.0:1.0:0.0:0.0	.	4;4;4	F8VXJ2;Q7Z724;P56177	.;.;DLX1_HUMAN	S	4	ENSP00000354865:T4S;ENSP00000448827:T4S;ENSP00000354478:T4S	ENSP00000341786:T4S	T	+	2	0	DLX1	172658662	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.459000	0.80802	2.638000	0.89438	0.460000	0.39030	ACC	-	NULL		0.557	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX1	protein_coding	OTTHUMT00000405916.1	C	XM_087198	-		172950416	+1	no_errors	ENST00000361725	ensembl	human	known	74_37	missense	SNP	1.000	G
COL15A1	1306	genome.wustl.edu	37	9	101812175	101812175	+	Missense_Mutation	SNP	C	C	T			TCGA-3R-A8YX-01A-11D-A37C-09	TCGA-3R-A8YX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b8bbbbc-18c8-4599-8f06-6963740cb2ed	e26d0fc4-07ec-4e1d-816c-6d4df7e3996c	g.chr9:101812175C>T	ENST00000375001.3	+	30	3325	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	968	Nonhelical region 6 (NC6).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGCAAAATGCCAGTAAGTAG	0.478																																																	0								ENSG00000204291						208.0	177.0	187.0					9																	101812175		2203	4300	6503	COL15A1	SO:0001583	missense	0			-	HGNC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2902C>T	9.37:g.101812175C>T	ENSP00000364140:p.Pro968Ser	Somatic	0	43	0.00		0.557332265328442	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P968S	ENST00000375001.3	37	c.2902	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952602	0.53293	.	.	ENSG00000204291	ENST00000375001	T	0.34072	1.38	6.06	6.06	0.98353	C-type lectin fold (1);	0.293880	0.29616	N	0.011645	T	0.47469	0.1447	L	0.48877	1.53	0.30913	N	0.728836	D	0.76494	0.999	D	0.63488	0.915	T	0.35276	-0.9795	10	0.07325	T	0.83	-2.7327	16.1209	0.81357	0.0:1.0:0.0:0.0	.	968	P39059	COFA1_HUMAN	S	968	ENSP00000364140:P968S	ENSP00000364140:P968S	P	+	1	0	COL15A1	100851996	0.173000	0.23056	0.394000	0.26270	0.943000	0.58893	1.917000	0.39996	2.882000	0.98803	0.655000	0.94253	CCA	-	superfamily_C-type_lectin_fold		0.478	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	protein_coding	OTTHUMT00000053386.3	C	NM_001855	-		101812175	+1	no_errors	ENST00000375001	ensembl	human	known	74_37	missense	SNP	0.659	T
