#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABO	28	genome.wustl.edu	37	9	136131313	136131314	+	RNA	INS	-	-	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr9:136131313_136131314insC	ENST00000453660.2	-	0	814_815				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CCCCCGAAGAACCCCCCCAGGT	0.668																																						dbGAP											0																																										-	-	-			0			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131320_136131320dupC			B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	INS	-	NULL	ENST00000453660.2	37	NULL		9																																																																																			ABO	-	-	ENSG00000175164		0.668	ABO-001	KNOWN	basic	processed_transcript	ABO	HGNC	processed_transcript	OTTHUMT00000054907.4	18	0.00	0	-	NM_020469		136131313	136131314	-1	no_errors	ENST00000453660	ensembl	human	known	69_37n	rna	36	10.00	4	INS	0.116:0.001	C
AFTPH	54812	genome.wustl.edu	37	2	64779110	64779110	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr2:64779110T>G	ENST00000422803.1	+	2	816	c.502T>G	c.(502-504)Tta>Gta	p.L168V	AFTPH_ENST00000238855.7_Missense_Mutation_p.L168V|AFTPH_ENST00000409933.1_Missense_Mutation_p.L168V|AFTPH_ENST00000238856.4_Missense_Mutation_p.L168V|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	168					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.L168V(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AAACAAGCAGTTAGAGAGCTG	0.393																																						dbGAP											2	Substitution - Missense(2)	breast(2)											65.0	64.0	64.0					2																	64779110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.502T>G	2.37:g.64779110T>G	ENSP00000397726:p.Leu168Val		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.L168V	ENST00000422803.1	37	c.502		2	.	.	.	.	.	.	.	.	.	.	T	0.281	-0.986652	0.02180	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.78	3.07	0.35406	.	0.329374	0.28382	N	0.015559	T	0.16085	0.0387	L	0.44542	1.39	0.27149	N	0.961452	B;B;B;P	0.40431	0.211;0.211;0.211;0.717	B;B;B;B	0.33454	0.04;0.04;0.04;0.164	T	0.07578	-1.0765	10	0.20519	T	0.43	-3.7326	0.813	0.01097	0.2128:0.167:0.1209:0.4993	.	168;168;168;168	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	V	168	ENSP00000238856:L168V;ENSP00000397726:L168V;ENSP00000238855:L168V;ENSP00000387071:L168V	ENSP00000238855:L168V	L	+	1	2	AFTPH	64632614	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	1.892000	0.39748	1.113000	0.41760	0.482000	0.46254	TTA	AFTPH	-	NULL	ENSG00000119844		0.393	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		87	0.00	0	T	NM_017657		64779110	64779110	+1	no_errors	ENST00000422803	ensembl	human	known	69_37n	missense	53	42.39	39	SNP	0.995	G
AKAP9	10142	genome.wustl.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.Q3750fs	ENST00000359028.2	37	c.11240_11241		7																																																																																			AKAP9	-	pfam_PACT_domain	ENSG00000127914		0.535	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		55	0.00	0	-	NM_005751		91732038	91732039	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	frame_shift_ins	79	10.23	9	INS	1.000:1.000	G
ATP1B1	481	genome.wustl.edu	37	1	169076073	169076073	+	Silent	SNP	C	C	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr1:169076073C>G	ENST00000367816.1	+	2	535	c.6C>G	c.(4-6)gcC>gcG	p.A2A	RP5-1018K9.1_ENST00000415637.1_RNA|ATP1B1_ENST00000367815.4_Silent_p.A2A|ATP1B1_ENST00000499679.3_5'Flank			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	2					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.A2A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TCGCCATGGCCCGCGGGAAAG	0.667																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											28.0	31.0	30.0					1																	169076073		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.6C>G	1.37:g.169076073C>G			Q5TGZ3	Silent	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.A2	ENST00000367816.1	37	c.6	CCDS1276.1	1																																																																																			ATP1B1	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000143153		0.667	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	19	0.00	0	C			169076073	169076073	+1	no_errors	ENST00000367815	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	0.998	G
SCP2D1	140856	genome.wustl.edu	37	20	18794881	18794881	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr20:18794881T>C	ENST00000377428.2	+	1	512	c.422T>C	c.(421-423)cTg>cCg	p.L141P	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	141	SCP2.							p.L141P(1)									GGCAAGGTTCTGCTTAGCTGG	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											55.0	60.0	58.0					20																	18794881		2199	4296	6495	-	-	-	SO:0001583	missense	0			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.422T>C	20.37:g.18794881T>C	ENSP00000366645:p.Leu141Pro		Q548A4	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	p.L141P	ENST00000377428.2	37	c.422	CCDS13139.1	20	.	.	.	.	.	.	.	.	.	.	T	16.83	3.230701	0.58777	.	.	ENSG00000132631	ENST00000377428	T	0.21932	1.98	5.94	4.78	0.61160	SCP2 sterol-binding domain (2);	0.289862	0.24869	N	0.034948	T	0.32406	0.0828	L	0.43152	1.355	0.58432	D	0.999998	D	0.58970	0.984	P	0.59643	0.861	T	0.02668	-1.1126	10	0.66056	D	0.02	-10.1656	11.0469	0.47863	0.0:0.0:0.1554:0.8446	.	141	Q9UJQ7	CT079_HUMAN	P	141	ENSP00000366645:L141P	ENSP00000366645:L141P	L	+	2	0	C20orf79	18742881	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.740000	0.55082	2.265000	0.75225	0.482000	0.46254	CTG	C20orf79	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000132631		0.443	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf79	HGNC	protein_coding	OTTHUMT00000078193.1	75	0.00	0	T	NM_178483		18794881	18794881	+1	no_errors	ENST00000377428	ensembl	human	known	69_37n	missense	52	44.09	41	SNP	1.000	C
CACNA1C	775	genome.wustl.edu	37	12	2676748	2676748	+	Silent	SNP	G	G	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr12:2676748G>A	ENST00000347598.4	+	13	1683	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	CACNA1C_ENST00000399601.1_Silent_p.K561K|CACNA1C_ENST00000399606.1_Silent_p.K561K|CACNA1C_ENST00000399603.1_Silent_p.K561K|CACNA1C_ENST00000480911.1_Silent_p.K561K|CACNA1C_ENST00000399638.1_Silent_p.K561K|CACNA1C_ENST00000399641.1_Silent_p.K561K|CACNA1C_ENST00000399634.1_Silent_p.K561K|CACNA1C_ENST00000327702.7_Silent_p.K561K|CACNA1C_ENST00000399591.1_Silent_p.K561K|CACNA1C_ENST00000406454.3_Silent_p.K561K|CACNA1C_ENST00000399617.1_Silent_p.K561K|CACNA1C_ENST00000399644.1_Silent_p.K561K|CACNA1C_ENST00000344100.3_Silent_p.K561K|CACNA1C_ENST00000399621.1_Silent_p.K561K|CACNA1C_ENST00000399649.1_Silent_p.K561K|CACNA1C_ENST00000402845.3_Silent_p.K561K|CACNA1C_ENST00000399637.1_Silent_p.K561K|CACNA1C_ENST00000335762.5_Silent_p.K586K|CACNA1C_ENST00000399629.1_Silent_p.K561K|CACNA1C_ENST00000399597.1_Silent_p.K561K|CACNA1C_ENST00000399595.1_Silent_p.K561K|CACNA1C_ENST00000399655.1_Silent_p.K561K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	561					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K561K(3)|p.K591K(1)|p.K96K(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAAACAAGGCCCTGCTGG	0.582																																						dbGAP											5	Substitution - coding silent(5)	breast(5)											19.0	22.0	21.0					12																	2676748		2119	4261	6380	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1683G>A	12.37:g.2676748G>A			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.K561	ENST00000347598.4	37	c.1683	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	51	0.00	0	G	NM_000719		2676748	2676748	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	29	38.30	18	SNP	1.000	A
CDX2	1045	genome.wustl.edu	37	13	28543039	28543040	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr13:28543039_28543040insG	ENST00000381020.7	-	1	2236_2237	c.104_105insC	c.(103-105)ccgfs	p.P35fs	CDX2_ENST00000548877.1_5'Flank	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	35					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCGGGTACTGCGGGGGGCTGAC	0.683			T	ETV6	AML																																	dbGAP		Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.105dupC	13.37:g.28543045_28543045dupG	ENSP00000370408:p.Pro35fs		O00503|Q5VTU7|Q969L8|Q9UD92	Frame_Shift_Ins	INS	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.Q36fs	ENST00000381020.7	37	c.105_104	CCDS9328.1	13																																																																																			CDX2	-	pfam_Caudal_activation_dom	ENSG00000165556		0.683	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	22	0.00	0	-			28543039	28543040	-1	no_errors	ENST00000381020	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	G
CNGB3	54714	genome.wustl.edu	37	8	87623885	87623885	+	Silent	SNP	C	C	T			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr8:87623885C>T	ENST00000320005.5	-	14	1640	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	531					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q531Q(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATAAATCATCTGTGTATCAC	0.313																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											102.0	98.0	99.0					8																	87623885		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1593G>A	8.37:g.87623885C>T			C9JA51|Q9NRE9	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q531	ENST00000320005.5	37	c.1593	CCDS6244.1	8																																																																																			CNGB3	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000170289		0.313	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	178	0.00	0	C	NM_019098		87623885	87623885	-1	no_errors	ENST00000320005	ensembl	human	known	69_37n	silent	200	19.68	49	SNP	1.000	T
CREB3L2	64764	genome.wustl.edu	37	7	137613095	137613096	+	In_Frame_Ins	INS	-	-	CCA			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr7:137613095_137613096insCCA	ENST00000330387.6	-	2	470_471	c.119_120insTGG	c.(118-120)ctg>ctTGGg	p.40_41insG	CREB3L2_ENST00000456390.1_In_Frame_Ins_p.40_41insG|CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000452463.1_In_Frame_Ins_p.40_41insG	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	40					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAACTCATCCAGAAGTTCTGA	0.475			T	FUS	fibromyxoid sarcoma																																	dbGAP		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0																																										-	-	-	SO:0001652	inframe_insertion	0			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.119_120insTGG	7.37:g.137613095_137613096insCCA	ENSP00000329140:p.Leu40_Asp41insGly		Q6P454|Q6ZMR6	In_Frame_Ins	INS	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.41in_frame_insG	ENST00000330387.6	37	c.120_119	CCDS34760.1	7																																																																																			CREB3L2	-	NULL	ENSG00000182158		0.475	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	141	0.00	0	-	NM_194071		137613095	137613096	-1	no_errors	ENST00000330387	ensembl	human	known	69_37n	in_frame_ins	153	11.05	19	INS	1.000:1.000	CCA
CREB3L2	64764	genome.wustl.edu	37	7	137613100	137613101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr7:137613100_137613101insC	ENST00000330387.6	-	2	465_466	c.114_115insG	c.(112-117)gaacttfs	p.L39fs	CREB3L2_ENST00000456390.1_Frame_Shift_Ins_p.L39fs|CREB3L2_ENST00000458726.1_5'UTR|CREB3L2_ENST00000452463.1_Frame_Shift_Ins_p.L39fs	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	39					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCATCCAGAAGTTCTGAGAAGT	0.465			T	FUS	fibromyxoid sarcoma																																	dbGAP		Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"""basic leucine zipper proteins"""	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.114_115insG	7.37:g.137613100_137613101insC	ENSP00000329140:p.Leu39fs		Q6P454|Q6ZMR6	Frame_Shift_Ins	INS	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L38fs	ENST00000330387.6	37	c.115_114	CCDS34760.1	7																																																																																			CREB3L2	-	NULL	ENSG00000182158		0.465	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	134	0.00	0	-	NM_194071		137613100	137613101	-1	no_errors	ENST00000330387	ensembl	human	known	69_37n	frame_shift_ins	143	11.73	19	INS	1.000:1.000	C
CRY2	1408	genome.wustl.edu	37	11	45891749	45891749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr11:45891749delA	ENST00000443527.2	+	8	1425	c.1403delA	c.(1402-1404)tacfs	p.Y468fs	CRY2_ENST00000417225.2_Frame_Shift_Del_p.Y386fs	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	447	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						AGTGGGGACTACATCAGGTGA	0.592																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	dbGAP											0													62.0	61.0	62.0					11																	45891749		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1403delA	11.37:g.45891749delA	ENSP00000406751:p.Tyr468fs		B4DH32|B4DZD6|O75148|Q8IV71	Frame_Shift_Del	DEL	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.Y468fs	ENST00000443527.2	37	c.1403	CCDS7915.2	11																																																																																			CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.592	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	47	0.00	0	A	NM_021117		45891749	45891749	+1	no_errors	ENST00000443527	ensembl	human	known	69_37n	frame_shift_del	77	55.87	100	DEL	1.000	-
DENND3	22898	genome.wustl.edu	37	8	142188203	142188204	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr8:142188203_142188204insA	ENST00000262585.2	+	16	2782_2783	c.2504_2505insA	c.(2503-2508)ttgctgfs	p.L836fs	DENND3_ENST00000519811.1_Frame_Shift_Ins_p.L916fs|DENND3_ENST00000424248.1_Frame_Shift_Ins_p.L784fs|DENND3_ENST00000518806.1_3'UTR	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	836					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAACGTCTTGCTGATGGACG	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		Exception_encountered	8.37:g.142188203_142188204insA	ENSP00000262585:p.Leu836fs		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Frame_Shift_Ins	INS	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.L836fs	ENST00000262585.2	37	c.2504_2505	CCDS34947.1	8																																																																																			DENND3	-	NULL	ENSG00000105339		0.505	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		46	0.00	0	-	NM_014957		142188203	142188204	+1	no_errors	ENST00000262585	ensembl	human	known	69_37n	frame_shift_ins	83	31.40	38	INS	0.989:0.991	A
DPAGT1	1798	genome.wustl.edu	37	11	118967812	118967813	+	Intron	INS	-	-	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr11:118967812_118967813insG	ENST00000409993.2	-	10	2713				DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.F294fs|DPAGT1_ENST00000354202.4_Intron|H2AFX_ENST00000530167.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCACGCAGAAAGGGAGACACG	0.49																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1161+38->C	11.37:g.118967812_118967813insG			O15216|Q86WV9|Q9BWE6	Frame_Shift_Ins	INS	pfam_Glycosyl_transferase_4	p.F293fs	ENST00000409993.2	37	c.880_879	CCDS8411.1	11																																																																																			DPAGT1	-	NULL	ENSG00000172269		0.490	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2	107	0.00	0	-	NM_001382		118967812	118967813	-1	no_errors	ENST00000432443	ensembl	human	known	69_37n	frame_shift_ins	215	31.53	99	INS	0.002:0.000	G
FAM219A	203259	genome.wustl.edu	37	9	34401098	34401098	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr9:34401098A>G	ENST00000445726.1	-	6	728	c.422T>C	c.(421-423)aTc>aCc	p.I141T	FAM219A_ENST00000379089.1_Missense_Mutation_p.I139T|FAM219A_ENST00000297620.4_Missense_Mutation_p.I124T|FAM219A_ENST00000379080.1_Missense_Mutation_p.I128T|FAM219A_ENST00000379087.1_Missense_Mutation_p.I122T|FAM219A_ENST00000379084.1_Missense_Mutation_p.I123T|FAM219A_ENST00000379081.1_Missense_Mutation_p.I112T	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	141								p.I124T(1)									CAGCAGCTGGATGTTCAAATC	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											128.0	116.0	120.0					9																	34401098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.422T>C	9.37:g.34401098A>G	ENSP00000392452:p.Ile141Thr		A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	NULL	p.I141T	ENST00000445726.1	37	c.422	CCDS55304.1	9	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653502	0.67472	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77075	0.4077	M	0.72479	2.2	0.58432	D	0.999995	D;D;D;D;P	0.67145	0.991;0.996;0.974;0.988;0.936	P;D;P;P;P	0.77557	0.798;0.99;0.736;0.794;0.448	T	0.76804	-0.2824	9	0.38643	T	0.18	-38.918	14.6858	0.69049	1.0:0.0:0.0:0.0	.	129;141;112;113;124	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	T	139;122;123;112;128;141;124;140	.	ENSP00000297620:I124T	I	-	2	0	C9orf25	34391098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.248000	0.78268	2.063000	0.61619	0.533000	0.62120	ATC	FAM219A	-	NULL	ENSG00000164970		0.622	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM219A	HGNC	protein_coding		57	0.00	0	A	NM_001184940		34401098	34401098	-1	no_errors	ENST00000445726	ensembl	human	known	69_37n	missense	62	37.37	37	SNP	1.000	G
FARP1	10160	genome.wustl.edu	37	13	99092236	99092237	+	Frame_Shift_Ins	INS	-	-	G	rs201529177		TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr13:99092236_99092237insG	ENST00000319562.6	+	22	2720_2721	c.2455_2456insG	c.(2455-2457)tggfs	p.W819fs	FARP1_ENST00000595437.1_Frame_Shift_Ins_p.W850fs|FARP1_ENST00000376586.2_Frame_Shift_Ins_p.W850fs	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	819	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGAAGACGAGTGGGGGGTGCCC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2461dupG	13.37:g.99092242_99092242dupG	ENSP00000322926:p.Trp819fs		Q5JVI9|Q6IQ29	Frame_Shift_Ins	INS	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.V852fs	ENST00000319562.6	37	c.2548_2549	CCDS9487.1	13																																																																																			FARP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000152767		0.614	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	46	0.00	0	-	NM_005766		99092236	99092237	+1	no_errors	ENST00000376586	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	1.000:1.000	G
FAT1	2195	genome.wustl.edu	37	4	187521416	187521417	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr4:187521416_187521417insG	ENST00000441802.2	-	22	11947_11948	c.11738_11739insC	c.(11737-11739)gcafs	p.A3913fs	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3913	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAGGGCCACTGCGTGCCACTG	0.515										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11739dupC	4.37:g.187521417_187521417dupG	ENSP00000406229:p.Ala3913fs			Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V3914fs	ENST00000441802.2	37	c.11739_11738	CCDS47177.1	4																																																																																			FAT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000083857		0.515	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	51	0.00	0	-	NM_005245		187521416	187521417	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	frame_shift_ins	80	35.48	44	INS	0.066:0.343	G
GPSM2	29899	genome.wustl.edu	37	1	109444429	109444429	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr1:109444429C>T	ENST00000406462.2	+	9	1588	c.815C>T	c.(814-816)gCc>gTc	p.A272V	GPSM2_ENST00000264126.3_Missense_Mutation_p.A272V|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	272					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.A265V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTACTGTTGGCCCGACAGCTT	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											81.0	79.0	80.0					1																	109444429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.815C>T	1.37:g.109444429C>T	ENSP00000385510:p.Ala272Val		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A272V	ENST00000406462.2	37	c.815	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.308998	0.95629	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	T;T	0.76186	-1.0;-1.0	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	M	0.86953	2.85	0.80722	D	1	D	0.64830	0.994	D	0.63957	0.92	D	0.87473	0.2415	10	0.72032	D	0.01	-19.077	20.2723	0.98479	0.0:1.0:0.0:0.0	.	272	P81274	GPSM2_HUMAN	V	272	ENSP00000385510:A272V;ENSP00000264126:A272V	ENSP00000264126:A272V	A	+	2	0	GPSM2	109245952	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	GCC	GPSM2	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000121957		0.348	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	153	0.00	0	C	NM_013296		109444429	109444429	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	missense	143	20.11	36	SNP	1.000	T
HKDC1	80201	genome.wustl.edu	37	10	71007279	71007280	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr10:71007279_71007280delGA	ENST00000354624.5	+	9	1328_1329	c.1195_1196delGA	c.(1195-1197)gagfs	p.E399fs	HKDC1_ENST00000395086.2_Frame_Shift_Del_p.E399fs|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	399	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACGCCTCCGGGAGAACAAGAAG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1195_1196delGA	10.37:g.71007281_71007282delGA	ENSP00000346643:p.Glu399fs		B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Frame_Shift_Del	DEL	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.N400fs	ENST00000354624.5	37	c.1195_1196	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.619	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	55	0.00	0	GA	NM_025130		71007279	71007280	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	frame_shift_del	61	42.99	46	DEL	1.000:1.000	-
HSPG2	3339	genome.wustl.edu	37	1	22172652	22172652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr1:22172652delA	ENST00000374695.3	-	64	8492	c.8413delT	c.(8413-8415)tcafs	p.S2805fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2805	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCAGGACTGAGGCCTCCAGG	0.687																																						dbGAP											0													38.0	40.0	40.0					1																	22172652		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8413delT	1.37:g.22172652delA	ENSP00000363827:p.Ser2805fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S2805fs	ENST00000374695.3	37	c.8413	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000142798		0.687	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	8	0.00	0	A	NM_005529		22172652	22172652	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	frame_shift_del	4	55.56	5	DEL	1.000	-
HSPG2	3339	genome.wustl.edu	37	1	22172657	22172658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr1:22172657_22172658insG	ENST00000374695.3	-	64	8486_8487	c.8407_8408insC	c.(8407-8409)gagfs	p.E2803fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2803	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GACTGAGGCCTCCAGGGGGCCA	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8407_8408insC	1.37:g.22172657_22172658insG	ENSP00000363827:p.Glu2803fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.E2803fs	ENST00000374695.3	37	c.8408_8407	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000142798		0.683	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	8	0.00	0	-	NM_005529		22172657	22172658	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	frame_shift_ins	3	62.50	5	INS	1.000:0.997	G
LDB3	11155	genome.wustl.edu	37	10	88441388	88441388	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr10:88441388delA	ENST00000361373.4	+	4	538	c.517delA	c.(517-519)agcfs	p.S173fs	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000372056.4_Frame_Shift_Del_p.S173fs|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Frame_Shift_Del_p.S173fs|LDB3_ENST00000542786.1_Frame_Shift_Del_p.S173fs|LDB3_ENST00000310944.6_Frame_Shift_Del_p.S173fs|LDB3_ENST00000352360.5_Intron	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GGCCAAGACCAGCCCAGAGGG	0.687																																						dbGAP											0													21.0	26.0	24.0					10																	88441388		2201	4293	6494	-	-	-	SO:0001589	frameshift_variant	0			AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.517delA	10.37:g.88441388delA	ENSP00000355296:p.Ser173fs			Frame_Shift_Del	DEL	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S173fs	ENST00000361373.4	37	c.517	CCDS7377.1	10																																																																																			LDB3	-	NULL	ENSG00000122367		0.687	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LDB3	HGNC	protein_coding	OTTHUMT00000049160.2	16	0.00	0	A			88441388	88441388	+1	no_errors	ENST00000429277	ensembl	human	known	69_37n	frame_shift_del	7	36.36	4	DEL	0.008	-
LDHC	3948	genome.wustl.edu	37	11	18456442	18456442	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr11:18456442G>A	ENST00000541669.1	+	5	685	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	LDHC_ENST00000536880.1_Missense_Mutation_p.E178K|LDHC_ENST00000546146.1_Missense_Mutation_p.E134K|LDHC_ENST00000280704.4_Missense_Mutation_p.E192K|LDHC_ENST00000535809.1_Missense_Mutation_p.E192K|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.E192K			P07864	LDHC_HUMAN	lactate dehydrogenase C	192					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)	p.E192K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATTATTGGAGAACATGGTGA	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											121.0	126.0	124.0					11																	18456442		2199	4293	6492	-	-	-	SO:0001583	missense	0			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.574G>A	11.37:g.18456442G>A	ENSP00000437783:p.Glu192Lys		D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.E192K	ENST00000541669.1	37	c.574	CCDS7840.1	11	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044167	0.93685	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105;ENST00000535809	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.67	4.67	0.58626	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.956;1.0	D	0.95041	0.8178	10	0.87932	D	0	-20.7797	17.7621	0.88467	0.0:0.0:1.0:0.0	.	192;192;192	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	K	192;192;134;178;192;192	ENSP00000437783:E192K;ENSP00000280704:E192K;ENSP00000443414:E134K;ENSP00000439555:E178K;ENSP00000439060:E192K;ENSP00000443997:E192K	ENSP00000280704:E192K	E	+	1	0	LDHC	18413018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.736000	0.84948	2.446000	0.82766	0.655000	0.94253	GAA	LDHC	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000166796		0.388	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	192	0.00	0	G	NM_017448		18456442	18456442	+1	no_errors	ENST00000280704	ensembl	human	known	69_37n	missense	356	11.19	45	SNP	1.000	A
LHFPL3	375612	genome.wustl.edu	37	7	103969504	103969504	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr7:103969504A>G	ENST00000401970.2	+	1	357	c.235A>G	c.(235-237)Agc>Ggc	p.S79G	LHFPL3_ENST00000424859.1_Missense_Mutation_p.S79G|LHFPL3_ENST00000535008.1_Missense_Mutation_p.S93G|LHFPL3_ENST00000543266.1_Missense_Mutation_p.S93G			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	93						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						CTGCAGGGGCAGCTTCACGGA	0.607																																						dbGAP											0													47.0	54.0	52.0					7																	103969504		1996	4188	6184	-	-	-	SO:0001583	missense	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.235A>G	7.37:g.103969504A>G	ENSP00000385374:p.Ser79Gly		A1L383|A4D0Q5	Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.S93G	ENST00000401970.2	37	c.277		7	.	.	.	.	.	.	.	.	.	.	A	14.58	2.578323	0.45902	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.06	5.06	0.68205	.	0.237951	0.52532	D	0.000074	T	0.66694	0.2815	L	0.58302	1.8	0.48395	D	0.999644	B;B	0.14805	0.011;0.011	B;B	0.20384	0.029;0.029	T	0.62282	-0.6887	10	0.21014	T	0.42	2.9513	14.8298	0.70139	1.0:0.0:0.0:0.0	.	93;93	A1L384;A4D0Q5	.;.	G	79;93;79;93	ENSP00000393128:S79G;ENSP00000444350:S93G;ENSP00000385374:S79G;ENSP00000445976:S93G	ENSP00000385374:S79G	S	+	1	0	LHFPL3	103756740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.215000	0.58534	1.894000	0.54839	0.456000	0.33151	AGC	LHFPL3	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000187416		0.607	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	HGNC	protein_coding	OTTHUMT00000348284.1	37	0.00	0	A	NM_199000		103969504	103969504	+1	no_errors	ENST00000535008	ensembl	human	known	69_37n	missense	34	46.03	29	SNP	1.000	G
LRP12	29967	genome.wustl.edu	37	8	105509765	105509765	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr8:105509765C>T	ENST00000276654.5	-	5	1123	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.A320T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	339	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.A339T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTAAGAGGTGCATGAGAATCA	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											67.0	64.0	65.0					8																	105509765		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1015G>A	8.37:g.105509765C>T	ENSP00000276654:p.Ala339Thr		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.A320T	ENST00000276654.5	37	c.958	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470602	0.63625	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.18174	2.23;2.23	6.04	5.17	0.71159	CUB (5);	0.100108	0.64402	D	0.000002	T	0.12603	0.0306	N	0.25380	0.74	0.80722	D	1	B;B	0.27166	0.141;0.17	B;B	0.23574	0.028;0.047	T	0.08617	-1.0713	10	0.13470	T	0.59	-22.6493	15.4494	0.75262	0.0:0.9337:0.0:0.0663	.	320;339	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	320;339	ENSP00000399148:A320T;ENSP00000276654:A339T	ENSP00000276654:A339T	A	-	1	0	LRP12	105578941	1.000000	0.71417	0.955000	0.39395	0.991000	0.79684	5.554000	0.67294	1.571000	0.49722	0.563000	0.77884	GCA	LRP12	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000147650		0.383	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	60	0.00	0	C	NM_013437		105509765	105509765	-1	no_errors	ENST00000424843	ensembl	human	known	69_37n	missense	70	20.45	18	SNP	0.998	T
MAGEB2	4113	genome.wustl.edu	37	X	30237390	30237390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chrX:30237390delA	ENST00000378988.4	+	2	794	c.693delA	c.(691-693)ggafs	p.G231fs		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	231	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						ATATGTTGGGAGTCTATGATG	0.483																																						dbGAP											0													70.0	63.0	65.0					X																	30237390		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.693delA	X.37:g.30237390delA	ENSP00000368273:p.Gly231fs		O75860	Frame_Shift_Del	DEL	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V232fs	ENST00000378988.4	37	c.693	CCDS14219.1	X																																																																																			MAGEB2	-	pfam_MAGE,pfscan_MAGE	ENSG00000099399		0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	125	0.00	0	A	NM_002364		30237390	30237390	+1	no_errors	ENST00000378988	ensembl	human	known	69_37n	frame_shift_del	147	31.63	68	DEL	0.000	-
MAN2C1	4123	genome.wustl.edu	37	15	75654699	75654700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr15:75654699_75654700insC	ENST00000267978.5	-	8	1038_1039	c.992_993insG	c.(991-993)ggcfs	p.G331fs	MAN2C1_ENST00000569482.1_Frame_Shift_Ins_p.G331fs|MAN2C1_ENST00000565683.1_Frame_Shift_Ins_p.G331fs|MAN2C1_ENST00000563622.1_Frame_Shift_Ins_p.G232fs|MAN2C1_ENST00000563539.1_5'Flank	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	331					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCACCCAGGTGCCCCCCACAGG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.993dupG	15.37:g.75654705_75654705dupC	ENSP00000267978:p.Gly331fs		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Frame_Shift_Ins	INS	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.T332fs	ENST00000267978.5	37	c.993_992	CCDS32298.1	15																																																																																			MAN2C1	-	pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000140400		0.629	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	25	0.00	0	-			75654699	75654700	-1	no_errors	ENST00000267978	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:1.000	C
MMEL1	79258	genome.wustl.edu	37	1	2524333	2524334	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr1:2524333_2524334insC	ENST00000378412.3	-	20	2100_2101	c.1939_1940insG	c.(1939-1941)cagfs	p.Q647fs	MMEL1_ENST00000502556.1_Frame_Shift_Ins_p.Q490fs|MMEL1_ENST00000288709.6_Frame_Shift_Ins_p.Q638fs			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	647						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCACTCTGACTGCTCCCGGAAG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1939_1940insG	1.37:g.2524333_2524334insC	ENSP00000367668:p.Gln647fs		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Frame_Shift_Ins	INS	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Q647fs	ENST00000378412.3	37	c.1940_1939	CCDS30569.2	1																																																																																			MMEL1	-	pfam_Peptidase_M13_C	ENSG00000142606		0.609	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	28	0.00	0	-	NM_033467		2524333	2524334	-1	no_errors	ENST00000378412	ensembl	human	known	69_37n	frame_shift_ins	39	76.51	127	INS	1.000:1.000	C
MUC4	4585	genome.wustl.edu	37	3	195512287	195512287	+	Missense_Mutation	SNP	G	G	A	rs113602668	byFrequency	TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr3:195512287G>A	ENST00000463781.3	-	2	6623	c.6164C>T	c.(6163-6165)tCc>tTc	p.S2055F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S2055F|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATACTGAGGAAAGGCTGGT	0.572																																						dbGAP											0													18.0	18.0	18.0					3																	195512287		686	1573	2259	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6164C>T	3.37:g.195512287G>A	ENSP00000417498:p.Ser2055Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S2055F	ENST00000463781.3	37	c.6164	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	5.081	0.200645	0.09652	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.43;1.43	.	.	.	.	.	.	.	.	T	0.14056	0.0340	N	0.19112	0.55	0.09310	N	1	P	0.35139	0.486	B	0.22601	0.04	T	0.15752	-1.0426	6	.	.	.	.	.	.	.	.	2055	E7ESK3	.	F	2055	ENSP00000417498:S2055F;ENSP00000420243:S2055F	.	S	-	2	0	MUC4	196996682	.	.	0.002000	0.10522	0.014000	0.08584	.	.	0.488000	0.27723	0.064000	0.15345	TCC	MUC4	-	NULL	ENSG00000145113		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	25	0.00	0	G	NM_018406		195512287	195512287	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.004	A
MYO5B	4645	genome.wustl.edu	37	18	47429203	47429203	+	Splice_Site	DEL	C	C	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr18:47429203delC	ENST00000285039.7	-	21	2871	c.2572delG	c.(2572-2574)gtc>tc	p.V858fs	MYO5B_ENST00000324581.6_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	858	Arg-rich.|IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCATGAGGACCTGGCGGGAA	0.597																																						dbGAP											0													21.0	23.0	22.0					18																	47429203		2088	4211	6299	-	-	-	SO:0001630	splice_region_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2572-1G>-	18.37:g.47429203delC			B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V858fs	ENST00000285039.7	37	c.2572	CCDS42436.1	18																																																																																			MYO5B	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000167306		0.597	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	10	0.00	0	C		Frame_Shift_Del	47429203	47429203	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	frame_shift_del	9	30.77	4	DEL	1.000	-
NBPF12	149013	genome.wustl.edu	37	1	146403703	146403703	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr1:146403703T>G	ENST00000442909.2	+	11	1873	c.1037T>G	c.(1036-1038)cTa>cGa	p.L346R	NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000439206.2_5'Flank|NBPF12_ENST00000309471.8_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0						cytoplasm (GO:0005737)		p.L346R(1)		ovary(2)	2						AGGAATGAGCTACAGTTCAAG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)																																								-	-	-	SO:0001583	missense	0			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.1037T>G	1.37:g.146403703T>G	ENSP00000391116:p.Leu346Arg		O95877	Missense_Mutation	SNP	pfam_NBPF_dom	p.L346R	ENST00000442909.2	37	c.1037		1	.	.	.	.	.	.	.	.	.	.	N	0.001	-2.934592	0.00053	.	.	ENSG00000186275	ENST00000442909	T	0.02606	4.23	1.1	-0.29	0.12847	.	.	.	.	.	T	0.00440	0.0014	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42361	-0.9456	6	0.11794	T	0.64	.	4.0039	0.09592	0.0:0.0:0.3813:0.6187	.	.	.	.	R	346	ENSP00000391116:L346R	ENSP00000391116:L346R	L	+	2	0	NBPF12	146057581	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-0.571000	0.05889	-0.048000	0.13401	-2.077000	0.00380	CTA	NBPF12	-	NULL	ENSG00000186275		0.527	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	NBPF12	HGNC	protein_coding	OTTHUMT00000102086.3	8	0.00	0	T	XM_003119146		146403703	146403703	+1	no_errors	ENST00000442909	ensembl	human	novel	69_37n	missense	10	37.50	6	SNP	0.010	G
NDST1	3340	genome.wustl.edu	37	5	149918871	149918872	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr5:149918871_149918872insC	ENST00000261797.6	+	7	2021_2022	c.1519_1520insC	c.(1519-1521)aagfs	p.K507fs	NDST1_ENST00000523767.1_Frame_Shift_Ins_p.K507fs	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	507	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGCTGGACAAGATCATCAAC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		Exception_encountered	5.37:g.149918871_149918872insC	ENSP00000261797:p.Lys507fs		Q96E57	Frame_Shift_Ins	INS	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.K507fs	ENST00000261797.6	37	c.1519_1520	CCDS34277.1	5																																																																																			NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.619	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	158	0.00	0	-	NM_001543		149918871	149918872	+1	no_errors	ENST00000261797	ensembl	human	known	69_37n	frame_shift_ins	221	32.21	105	INS	1.000:1.000	C
NEIL3	55247	genome.wustl.edu	37	4	178274553	178274553	+	Silent	SNP	C	C	T			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr4:178274553C>T	ENST00000264596.3	+	8	1249	c.1131C>T	c.(1129-1131)gtC>gtT	p.V377V	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	377					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.V377V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATACAGAAGTCAAGATCAACA	0.358								Base excision repair (BER), DNA glycosylases																														dbGAP											1	Substitution - coding silent(1)	breast(1)											74.0	76.0	75.0					4																	178274553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1131C>T	4.37:g.178274553C>T			Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.V377	ENST00000264596.3	37	c.1131	CCDS3828.1	4																																																																																			NEIL3	-	NULL	ENSG00000109674		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	118	0.00	0	C	NM_018248		178274553	178274553	+1	no_errors	ENST00000264596	ensembl	human	known	69_37n	silent	140	20.00	35	SNP	0.782	T
PARP8	79668	genome.wustl.edu	37	5	50091223	50091224	+	Frame_Shift_Ins	INS	-	-	A	rs570195240	byFrequency	TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr5:50091223_50091224insA	ENST00000281631.5	+	12	1558_1559	c.1400_1401insA	c.(1399-1404)ccatctfs	p.S468fs	PARP8_ENST00000514067.2_Frame_Shift_Ins_p.S468fs|PARP8_ENST00000505554.1_Frame_Shift_Ins_p.S447fs|PARP8_ENST00000503750.2_Frame_Shift_Ins_p.S468fs|PARP8_ENST00000514342.2_Frame_Shift_Ins_p.S221fs|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Frame_Shift_Ins_p.S468fs	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	468	Poly-Ser.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATCCTAACACCATCTTCATCTT	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1401dupA	5.37:g.50091224_50091224dupA	ENSP00000281631:p.Ser468fs		Q3KRB7|Q6DHZ1|Q9H754	Frame_Shift_Ins	INS	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S468fs	ENST00000281631.5	37	c.1400_1401	CCDS3954.1	5																																																																																			PARP8	-	NULL	ENSG00000151883		0.411	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	44	0.00	0	-	NM_024615		50091223	50091224	+1	no_errors	ENST00000281631	ensembl	human	known	69_37n	frame_shift_ins	40	16.67	8	INS	1.000:1.000	A
PCDHB3	56132	genome.wustl.edu	37	5	140481610	140481610	+	Silent	SNP	C	C	T			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr5:140481610C>T	ENST00000231130.2	+	1	1377	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	459	Cadherin 5. {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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F459F(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											88.0	85.0	86.0					5																	140481610		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1377C>T	5.37:g.140481610C>T			B2R8P2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F459	ENST00000231130.2	37	c.1377	CCDS4245.1	5																																																																																			PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113205		0.602	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	71	0.00	0	C	NM_018937		140481610	140481610	+1	no_errors	ENST00000231130	ensembl	human	known	69_37n	silent	29	42.00	21	SNP	0.000	T
PCDHB12	56124	genome.wustl.edu	37	5	140590839	140590839	+	Missense_Mutation	SNP	C	C	T	rs556781909		TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr5:140590839C>T	ENST00000239450.2	+	1	2549	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Missense_Mutation_p.P450L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	787					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P787L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAAATCCCCCATTTCAG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18714	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	56.0	56.0					5																	140590839		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2360C>T	5.37:g.140590839C>T	ENSP00000239450:p.Pro787Leu		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P787L	ENST00000239450.2	37	c.2360	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	7.314	0.615492	0.14129	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.12984	2.63;2.63	2.74	-5.49	0.02584	.	.	.	.	.	T	0.07773	0.0195	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47018	-0.9149	9	0.10111	T	0.7	.	0.6903	0.00890	0.4272:0.2079:0.1415:0.2234	.	787	Q9Y5F1	PCDBC_HUMAN	L	450;787;407	ENSP00000440199:P450L;ENSP00000239450:P787L	ENSP00000239450:P787L	P	+	2	0	PCDHB12	140571023	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.022000	0.12480	-1.259000	0.02468	-0.657000	0.03884	CCC	PCDHB12	-	NULL	ENSG00000120328		0.373	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	93	0.00	0	C	NM_018932		140590839	140590839	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	0.000	T
PRMT8	56341	genome.wustl.edu	37	12	3649779	3649780	+	Frame_Shift_Ins	INS	-	-	C	rs199933972|rs530556710	byFrequency	TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr12:3649779_3649780insC	ENST00000382622.3	+	2	473_474	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	PRMT8_ENST00000452611.2_Frame_Shift_Ins_p.SP19fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	28					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGTGAACAGCCCCCCCTCCC	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.90dupC	12.37:g.3649786_3649786dupC	ENSP00000372067:p.Ser28fs		B2RDP0|Q8TBJ8	Frame_Shift_Ins	INS	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.S31fs	ENST00000382622.3	37	c.83_84	CCDS8521.2	12																																																																																			PRMT8	-	NULL	ENSG00000111218		0.658	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	37	0.00	0	-	NM_019854		3649779	3649780	+1	no_errors	ENST00000382622	ensembl	human	known	69_37n	frame_shift_ins	39	11.36	5	INS	0.892:0.358	C
PRR23C	389152	genome.wustl.edu	37	3	138762902	138762902	+	Silent	SNP	G	G	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr3:138762902G>A	ENST00000413199.1	-	1	832	c.561C>T	c.(559-561)agC>agT	p.S187S	PRR23C_ENST00000502927.2_Silent_p.S187S|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	187								p.S187S(1)		breast(2)|lung(7)|skin(2)	11						CCCGGTAGGGGCTGAACATAC	0.652																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											25.0	31.0	29.0					3																	138762902		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.561C>T	3.37:g.138762902G>A				Silent	SNP	pfam_UPF0572	p.S187	ENST00000413199.1	37	c.561	CCDS46924.1	3																																																																																			PRR23C	-	pfam_UPF0572	ENSG00000233701		0.652	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	HGNC	protein_coding	OTTHUMT00000361502.1	138	0.00	0	G	NM_001134657		138762902	138762902	-1	no_errors	ENST00000413199	ensembl	human	known	69_37n	silent	142	34.39	76	SNP	0.000	A
RBM33	155435	genome.wustl.edu	37	7	155530271	155530271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr7:155530271delT	ENST00000401878.3	+	10	1506	c.1308delT	c.(1306-1308)agtfs	p.S436fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	436	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TTCCCAACAGTTTCAGCCAGC	0.527																																						dbGAP											0													39.0	40.0	39.0					7																	155530271		1877	4099	5976	-	-	-	SO:0001589	frameshift_variant	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1308delT	7.37:g.155530271delT	ENSP00000384160:p.Ser436fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	smart_RRM_dom	p.F437fs	ENST00000401878.3	37	c.1308	CCDS5941.2	7																																																																																			RBM33	-	NULL	ENSG00000184863		0.527	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	155	0.00	0	T	NM_001008408		155530271	155530271	+1	no_errors	ENST00000401878	ensembl	human	known	69_37n	frame_shift_del	199	49.62	197	DEL	0.072	-
RBM33	155435	genome.wustl.edu	37	7	155530280	155530281	+	Frame_Shift_Ins	INS	-	-	T	rs370162163		TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr7:155530280_155530281insT	ENST00000401878.3	+	10	1515_1516	c.1317_1318insT	c.(1318-1320)cccfs	p.P440fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	440	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTTCAGCCAGCCCCCACGACT	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	Exception_encountered	7.37:g.155530280_155530281insT	ENSP00000384160:p.Pro440fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Ins	INS	smart_RRM_dom	p.P439fs	ENST00000401878.3	37	c.1317_1318	CCDS5941.2	7																																																																																			RBM33	-	NULL	ENSG00000184863		0.545	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	158	0.00	0	-	NM_001008408		155530280	155530281	+1	no_errors	ENST00000401878	ensembl	human	known	69_37n	frame_shift_ins	216	48.45	203	INS	1.000:1.000	T
RBM47	54502	genome.wustl.edu	37	4	40434810	40434811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr4:40434810_40434811insC	ENST00000381793.2	-	5	1795_1796	c.1399_1400insG	c.(1399-1401)gatfs	p.D467fs	RBM47_ENST00000295971.7_Frame_Shift_Ins_p.D467fs|RBM47_ENST00000381795.6_Frame_Shift_Ins_p.D398fs|RBM47_ENST00000319592.4_Frame_Shift_Ins_p.D398fs|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_Frame_Shift_Ins_p.D429fs			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	467					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GATTTTGCCATCTTCAATCATT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1400dupG	4.37:g.40434811_40434811dupC	ENSP00000371212:p.Asp467fs		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.D467fs	ENST00000381793.2	37	c.1400_1399	CCDS43223.1	4																																																																																			RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.574	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	95	0.00	0	-	NM_019027		40434810	40434811	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	frame_shift_ins	334	79.68	1310	INS	1.000:1.000	C
RYR3	6263	genome.wustl.edu	37	15	34134090	34134090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr15:34134090delA	ENST00000389232.4	+	91	13133	c.13063delA	c.(13063-13065)aaafs	p.K4355fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.K4350fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4355					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAGGAAGACAAAGACAAAGA	0.512																																						dbGAP											0													72.0	79.0	77.0					15																	34134090		1907	4126	6033	-	-	-	SO:0001589	frameshift_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13063delA	15.37:g.34134090delA	ENSP00000373884:p.Lys4355fs		O15175|Q15412	Frame_Shift_Del	DEL	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.D4356fs	ENST00000389232.4	37	c.13063	CCDS45210.1	15																																																																																			RYR3	-	pfam_Ryanrecept_TM4-6,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold	ENSG00000198838		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	318	0.00	0	A			34134090	34134090	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	frame_shift_del	439	76.04	1425	DEL	0.679	-
SCLY	51540	genome.wustl.edu	37	2	239003107	239003108	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr2:239003107_239003108insA	ENST00000555827.1	+	10	1116_1117	c.1052_1053insA	c.(1051-1056)ggcaccfs	p.T352fs	SCLY_ENST00000422984.2_Frame_Shift_Ins_p.T258fs|SCLY_ENST00000254663.6_Frame_Shift_Ins_p.T360fs|SCLY_ENST00000429612.2_Frame_Shift_Ins_p.T146fs			Q96I15	SCLY_HUMAN	selenocysteine lyase	352					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CAGTTTCCAGGCACCCAGCGGC	0.515																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	Exception_encountered	2.37:g.239003107_239003108insA	ENSP00000450613:p.Thr352fs		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Frame_Shift_Ins	INS	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	p.T360fs	ENST00000555827.1	37	c.1076_1077		2																																																																																			SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.515	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		31	0.00	0	-	NM_016510		239003107	239003108	+1	no_errors	ENST00000254663	ensembl	human	known	69_37n	frame_shift_ins	61	45.05	50	INS	0.982:0.000	A
TCP11	6954	genome.wustl.edu	37	6	35108559	35108560	+	Frame_Shift_Ins	INS	-	-	G	rs371490655		TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr6:35108559_35108560insG	ENST00000512012.1	-	1	244_245	c.88_89insC	c.(88-90)cagfs	p.Q30fs	TCP11_ENST00000418521.2_Intron|TCP11_ENST00000311875.5_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.Q43fs|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000373974.4_Intron			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CTTGTCTTCCTGGGGGGGTCCT	0.639																																						dbGAP											0									,	6,3644		0,6,1819					,	-4.2	0.0			24	2,7854		0,2,3926	no	utr-5,frameshift	TCP11	NM_018679.4,NM_001093728.1	,	0,8,5745	A1A1,A1R,RR		0.0255,0.1644,0.0695	,	,		8,11498				-	-	-	SO:0001589	frameshift_variant	0				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.89dupC	6.37:g.35108566_35108566dupG	ENSP00000425995:p.Gln30fs		B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Frame_Shift_Ins	INS	pfam_Tcp11	p.Q43fs	ENST00000512012.1	37	c.128_127		6																																																																																			TCP11	-	NULL	ENSG00000124678		0.639	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1	32	0.00	0	-	NM_001093728		35108559	35108560	-1	no_errors	ENST00000311875	ensembl	human	known	69_37n	frame_shift_ins	29	14.71	5	INS	0.000:0.004	G
SIM1	6492	genome.wustl.edu	37	6	100895183	100895183	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr6:100895183G>A	ENST00000369208.3	-	9	1741	c.959C>T	c.(958-960)tCc>tTc	p.S320F	SIM1_ENST00000262901.4_Missense_Mutation_p.S320F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	320	PAC.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S320F(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGTGGCCTGGAGGAGCGACT	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											159.0	119.0	133.0					6																	100895183		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.959C>T	6.37:g.100895183G>A	ENSP00000358210:p.Ser320Phe		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.S320F	ENST00000369208.3	37	c.959	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.103240	0.94245	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.18960	2.18;2.18	6.17	5.3	0.74995	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64499	-0.6393	10	0.87932	D	0	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	320	P81133	SIM1_HUMAN	F	320	ENSP00000358210:S320F;ENSP00000262901:S320F	ENSP00000262901:S320F	S	-	2	0	SIM1	101001904	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.835000	0.99442	1.602000	0.50124	0.655000	0.94253	TCC	SIM1	-	pfam_PAS_fold_3,smart_PAC	ENSG00000112246		0.597	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	121	0.00	0	G	NM_005068		100895183	100895183	-1	no_errors	ENST00000262901	ensembl	human	known	69_37n	missense	18	75.00	54	SNP	1.000	A
TTC32	130502	genome.wustl.edu	37	2	20101529	20101529	+	Frame_Shift_Del	DEL	T	T	-	rs143714051		TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr2:20101529delT	ENST00000333610.3	-	1	218	c.87delA	c.(85-87)gcafs	p.A29fs	TTC32_ENST00000402414.1_Frame_Shift_Del_p.A29fs|RP11-79O8.1_ENST00000607190.1_lincRNA	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	29										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGTACAGTGCCTCGGCCT	0.642																																						dbGAP											0													122.0	112.0	115.0					2																	20101529		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"""Tetratricopeptide (TTC) repeat domain containing"""	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.87delA	2.37:g.20101529delT	ENSP00000333018:p.Ala29fs			Frame_Shift_Del	DEL	pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L30fs	ENST00000333610.3	37	c.87	CCDS33151.1	2																																																																																			TTC32	-	pfam_TPR-4	ENSG00000183891		0.642	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC32	HGNC	protein_coding	OTTHUMT00000323868.1	54	0.00	0	T	NM_001008237		20101529	20101529	-1	no_errors	ENST00000333610	ensembl	human	known	69_37n	frame_shift_del	41	52.33	45	DEL	0.987	-
TTN	7273	genome.wustl.edu	37	2	179397545	179397545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr2:179397545delT	ENST00000591111.1	-	308	99098	c.98874delA	c.(98872-98874)agafs	p.R32958fs	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.R25534fs|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.R32031fs|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.R34599fs|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.R25726fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.R25659fs|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32958					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R25659fs*7(1)|p.R25534fs*7(1)|p.R32029fs*7(1)|p.R25726fs*7(1)|p.R32031fs*7(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTTCCCATCTTGAAAGGC	0.428																																						dbGAP											5	Deletion - Frameshift(5)	breast(5)											109.0	102.0	104.0					2																	179397545		1990	4160	6150	-	-	-	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98874delA	2.37:g.179397545delT	ENSP00000465570:p.Arg32958fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R32031fs	ENST00000591111.1	37	c.96093		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	142	0.00	0	T	NM_133378		179397545	179397545	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	144	24.48	47	DEL	0.999	-
VAC14	55697	genome.wustl.edu	37	16	70834788	70834789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr16:70834788_70834789insA	ENST00000261776.5	-	1	275_276	c.15_16insT	c.(13-18)aaggatfs	p.D6fs	RP11-424M24.5_ENST00000574178.1_lincRNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	6					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGCGCGAAATCCTTCTCGGGGT	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.15_16insT	16.37:g.70834788_70834789insA	ENSP00000261776:p.Asp6fs		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Frame_Shift_Ins	INS	pfam_DUF3434,pfam_HEAT,superfamily_ARM-type_fold	p.D5fs	ENST00000261776.5	37	c.16_15	CCDS10896.1	16																																																																																			VAC14	-	superfamily_ARM-type_fold	ENSG00000103043		0.668	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	22	0.00	0	-	NM_018052		70834788	70834789	-1	no_errors	ENST00000261776	ensembl	human	known	69_37n	frame_shift_ins	19	66.67	38	INS	1.000:1.000	A
WSCD2	9671	genome.wustl.edu	37	12	108603963	108603963	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr12:108603963C>T	ENST00000332082.4	+	5	1381	c.563C>T	c.(562-564)aCg>aTg	p.T188M	WSCD2_ENST00000547525.1_Missense_Mutation_p.T188M|WSCD2_ENST00000261400.3_Missense_Mutation_p.T188M|WSCD2_ENST00000549903.1_Missense_Mutation_p.T188M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	188	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.T188M(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ATCCAGGCGACGAACGTGAGC	0.672																																						dbGAP											1	Substitution - Missense(1)	breast(1)											34.0	40.0	38.0					12																	108603963		2200	4293	6493	-	-	-	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.563C>T	12.37:g.108603963C>T	ENSP00000331933:p.Thr188Met		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.T188M	ENST00000332082.4	37	c.563	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481473	0.44147	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.12	5.12	0.69794	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.576641	0.18719	N	0.133073	T	0.46870	0.1415	L	0.58669	1.825	0.09310	N	1	B	0.31174	0.311	B	0.27796	0.083	T	0.43032	-0.9416	10	0.39692	T	0.17	-1.3062	10.7225	0.46048	0.0:0.9114:0.0:0.0886	.	188	Q2TBF2	WSCD2_HUMAN	M	188;188;35;188;188	ENSP00000448047:T188M;ENSP00000261400:T188M;ENSP00000446744:T35M;ENSP00000331933:T188M;ENSP00000447272:T188M	ENSP00000261400:T188M	T	+	2	0	WSCD2	107128093	0.058000	0.20735	0.370000	0.25965	0.961000	0.63080	3.450000	0.52957	2.379000	0.81126	0.555000	0.69702	ACG	WSCD2	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	ENSG00000075035		0.672	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	33	0.00	0	C	NM_014653		108603963	108603963	+1	no_errors	ENST00000261400	ensembl	human	known	69_37n	missense	24	52.94	27	SNP	0.085	T
YIF1A	10897	genome.wustl.edu	37	11	66052222	66052223	+	Frame_Shift_Ins	INS	-	-	T	rs530462354|rs200860199		TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr11:66052222_66052223insT	ENST00000376901.4	-	8	951_952	c.767_768insA	c.(766-768)cccfs	p.P256fs	YIF1A_ENST00000471387.2_Frame_Shift_Ins_p.P143fs|YIF1A_ENST00000496746.1_Frame_Shift_Ins_p.P42fs|YIF1A_ENST00000526497.1_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.P204fs|CNIH2_ENST00000530519.1_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	256					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CCATGCTGTCGGGGCCCAGGGC	0.634																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.767_768insA	11.37:g.66052222_66052223insT	ENSP00000366098:p.Pro256fs		A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	pfam_Hrf1,pfam_Yip1	p.D257fs	ENST00000376901.4	37	c.768_767	CCDS8132.1	11																																																																																			YIF1A	-	pfam_Hrf1	ENSG00000174851		0.634	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3	9	0.00	0	-	NM_020470		66052222	66052223	-1	no_errors	ENST00000376901	ensembl	human	known	69_37n	frame_shift_ins	16	46.67	14	INS	0.029:0.140	T
ZWILCH	55055	genome.wustl.edu	37	15	66821838	66821838	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0IA-01A-11W-A050-09	TCGA-B6-A0IA-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f7e5ada6-8f53-4765-a874-5ee9d258ad6a	5b3fdff1-5930-419f-a5e4-46554ae2f80f	g.chr15:66821838T>A	ENST00000307897.5	+	12	1462	c.1082T>A	c.(1081-1083)aTt>aAt	p.I361N	ZWILCH_ENST00000565627.1_Missense_Mutation_p.I247N|ZWILCH_ENST00000446801.2_Missense_Mutation_p.I247N|ZWILCH_ENST00000535141.2_Missense_Mutation_p.I247N	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	361					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.I361N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						CAAGGTGTGATTTCATACCAA	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											152.0	134.0	140.0					15																	66821838		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1082T>A	15.37:g.66821838T>A	ENSP00000311429:p.Ile361Asn		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.I361N	ENST00000307897.5	37	c.1082	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001916	0.35320	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.39787	1.06;1.06;1.06	5.8	3.47	0.39725	.	1.283640	0.05267	N	0.516905	T	0.33089	0.0851	L	0.44542	1.39	0.09310	N	1	P	0.36909	0.573	B	0.30855	0.121	T	0.30268	-0.9984	10	0.51188	T	0.08	-3.8839	4.5654	0.12184	0.0:0.2705:0.1794:0.5501	.	361	Q9H900	ZWILC_HUMAN	N	361;247;247	ENSP00000311429:I361N;ENSP00000402217:I247N;ENSP00000437749:I247N	ENSP00000311429:I361N	I	+	2	0	ZWILCH	64608892	0.276000	0.24211	0.016000	0.15963	0.972000	0.66771	1.912000	0.39946	1.015000	0.39444	0.460000	0.39030	ATT	ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.363	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	91	0.00	0	T	NM_017975		66821838	66821838	+1	no_errors	ENST00000307897	ensembl	human	known	69_37n	missense	74	45.99	63	SNP	0.033	A
