#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
GIGYF1	64599	genome.wustl.edu	37	7	100283916	100283916	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:100283916G>C	ENST00000275732.5	-	8	2044	c.835C>G	c.(835-837)Cga>Gga	p.R279G	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	279					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCAGGCGCTCGGCACCGCCGC	0.617													ENSG00000146830																																					0													61.0	68.0	66.0					7																	100283916		2203	4300	6503	SO:0001583	missense	0			-	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.835C>G	7.37:g.100283916G>C	ENSP00000275732:p.Arg279Gly		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R279G	ENST00000275732.5	37	c.835	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	9.307	1.054528	0.19907	.	.	ENSG00000146830	ENST00000275732	D	0.83250	-1.7	4.8	3.91	0.45181	.	0.267972	0.32357	N	0.006204	T	0.69305	0.3096	L	0.36672	1.1	0.19300	N	0.999979	P	0.43701	0.815	B	0.37833	0.259	T	0.58584	-0.7611	10	0.20046	T	0.44	-8.3726	5.8942	0.18929	0.0947:0.0:0.7131:0.1922	.	279	O75420	PERQ1_HUMAN	G	279	ENSP00000275732:R279G	ENSP00000275732:R279G	R	-	1	2	GIGYF1	100121852	0.156000	0.22821	0.960000	0.40013	0.010000	0.07245	1.921000	0.40035	1.232000	0.43678	0.655000	0.94253	CGA	-	GIGYF1	-	NULL		0.617	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	0	0		25	25		0.00		G	NM_022574		100283916	-1	19		34		tier1	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	35.85		SNP	0.206	C	19	34
CLEC4M	10332	genome.wustl.edu	37	19	7828315	7828315	+	Missense_Mutation	SNP	C	C	A	rs35064548	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:7828315C>A	ENST00000327325.5	+	2	201	c.83C>A	c.(82-84)cCa>cAa	p.P28Q	CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000597522.1_Missense_Mutation_p.P28Q|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P28Q|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P28Q|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P28Q|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P28Q|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.P28Q|CLEC4M_ENST00000394122.2_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	28					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGACTTTTTCCAAGAGACTTT	0.512													ENSG00000104938																																					0													110.0	108.0	109.0					19																	7828315		2203	4300	6503	SO:0001583	missense	0			-	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.83C>A	19.37:g.7828315C>A	ENSP00000316228:p.Pro28Gln		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.P28Q	ENST00000327325.5	37	c.83	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310074	0.23821	.	.	ENSG00000104938	ENST00000327325;ENST00000248228;ENST00000359059;ENST00000357361	T;T;T;T	0.05081	4.19;4.24;3.5;4.1	2.56	-5.12	0.02893	.	.	.	.	.	T	0.08403	0.0209	N	0.24115	0.695	0.09310	N	1	P;D;D;P;D;P	0.76494	0.689;0.982;0.99;0.565;0.999;0.928	B;P;D;B;D;P	0.74023	0.084;0.729;0.969;0.062;0.982;0.566	T	0.08932	-1.0698	9	0.51188	T	0.08	.	2.481	0.04587	0.1572:0.2008:0.4684:0.1736	.	28;28;28;28;28;28	Q9H2X3-5;B4DNV9;Q9H2X3;Q9H2X3-8;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.	Q	28	ENSP00000316228:P28Q;ENSP00000248228:P28Q;ENSP00000351954:P28Q;ENSP00000349924:P28Q	ENSP00000248228:P28Q	P	+	2	0	CLEC4M	7734315	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.236000	0.02925	-1.411000	0.02032	0.498000	0.49722	CCA	-	CLEC4M	-	NULL		0.512	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	HGNC	protein_coding	OTTHUMT00000461161.1	0	0		17	17		0.00		C	NM_014257		7828315	+1	7		27		tier1	no_errors	ENST00000327325	ensembl	human	known	74_37	missense	20.59		SNP	0.000	A	7	27
CACNA1F	778	genome.wustl.edu	37	X	49083120	49083120	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:49083120G>A	ENST00000376265.2	-	10	1415	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R441C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R387C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	452					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGAACCAGCGCAGACGTCCA	0.622													ENSG00000102001																																					0													35.0	27.0	30.0					X																	49083120		2197	4282	6479	SO:0001583	missense	0			-	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1354C>T	X.37:g.49083120G>A	ENSP00000365441:p.Arg452Cys		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R452C	ENST00000376265.2	37	c.1354	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825122	0.50739	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96427	-4.01;-3.27;-3.93	5.31	4.41	0.53225	.	2.005460	0.02851	N	0.129090	D	0.94132	0.8118	L	0.36672	1.1	0.21290	N	0.999737	P;P	0.47106	0.89;0.824	B;B	0.40101	0.319;0.17	D	0.86859	0.2028	10	0.66056	D	0.02	.	10.4141	0.44311	0.0:0.0:0.8069:0.1931	.	441;452	F5CIQ9;O60840	.;CAC1F_HUMAN	C	387;441;452	ENSP00000365427:R387C;ENSP00000321618:R441C;ENSP00000365441:R452C	ENSP00000321618:R441C	R	-	1	0	CACNA1F	48970064	0.552000	0.26505	0.567000	0.28434	0.514000	0.34195	3.114000	0.50383	2.212000	0.71576	0.431000	0.28591	CGC	-	CAC1F	-	NULL		0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC1F	HGNC	protein_coding	OTTHUMT00000358157.1	0	0		39	39		0.00		G	NM_005183		49083120	-1	21		35		tier1	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	37.50		SNP	0.375	A	21	35
ZDHHC23	254887	genome.wustl.edu	37	3	113680306	113680306	+	3'UTR	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:113680306G>C	ENST00000330212.3	+	0	2255				ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23						protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CAATACCCACGGAGCACTTTT	0.393													ENSG00000184307																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.*726G>C	3.37:g.113680306G>C			D3DN76	R	SNP	-	NULL	ENST00000330212.3	37	NULL	CCDS33827.1	3																																																																																			-	ZDHHC23	-	-		0.393	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	0	0		49	49		0.00		G	NM_173570		113680306	+1	9		61		tier1	no_errors	ENST00000488129	ensembl	human	putative	74_37	rna	12.86		SNP	0.003	C	9	61
C22orf42	150297	genome.wustl.edu	37	22	32550298	32550298	+	Silent	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr22:32550298G>A	ENST00000382097.3	-	2	312	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	80								p.D80D(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TGGAGCGGGCGTCCAAACCTG	0.393													ENSG00000205856																																					1	Substitution - coding silent(1)	breast(1)											47.0	52.0	50.0					22																	32550298		2196	4294	6490	SO:0001819	synonymous_variant	0			-	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.240C>T	22.37:g.32550298G>A			A4QPH5	Silent	SNP	NULL	p.D80	ENST00000382097.3	37	c.240	CCDS33639.1	22																																																																																			-	C22orf42	-	NULL		0.393	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	HGNC	protein_coding	OTTHUMT00000075268.2	0	0		36	36		0.00		G	NM_001010859		32550298	-1	6		14		tier1	no_errors	ENST00000382097	ensembl	human	known	74_37	silent	30.00		SNP	0.000	A	6	14
CHRM4	1132	genome.wustl.edu	37	11	46407064	46407064	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:46407064C>G	ENST00000433765.2	-	1	1043	c.1044G>C	c.(1042-1044)caG>caC	p.Q348H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	348					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CATTGCCTGTCTGCTTCGTCA	0.662													ENSG00000180720																									Esophageal Squamous(171;1020 1936 4566 30205 42542)												0													173.0	185.0	181.0					11																	46407064		2148	4239	6387	SO:0001583	missense	0			-	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.1044G>C	11.37:g.46407064C>G	ENSP00000409378:p.Gln348His		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt	p.Q348H	ENST00000433765.2	37	c.1044	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	c	9.367	1.069472	0.20147	.	.	ENSG00000180720	ENST00000433765	T	0.60171	0.21	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.64821	0.2633	L	0.59436	1.845	0.46774	D	0.99919	P	0.45011	0.848	P	0.53266	0.722	T	0.67425	-0.5674	9	0.62326	D	0.03	-20.0352	11.805	0.52150	0.0:0.9149:0.0:0.0851	.	348	P08173	ACM4_HUMAN	H	348	ENSP00000409378:Q348H	ENSP00000409378:Q348H	Q	-	3	2	CHRM4	46363640	0.999000	0.42202	1.000000	0.80357	0.656000	0.38851	0.949000	0.29109	2.307000	0.77673	0.457000	0.33378	CAG	-	CHRM4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M4_rcpt		0.662	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	0	0		84	84		0.00		C	NM_000741		46407064	-1	29		35		tier1	no_errors	ENST00000433765	ensembl	human	known	74_37	missense	44.62		SNP	1.000	G	29	35
OR4N4	283694	genome.wustl.edu	37	15	22382584	22382584	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:22382584A>T	ENST00000328795.4	+	1	203	c.112A>T	c.(112-114)Atc>Ttc	p.I38F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTACCTTATCATCCTCCCTGG	0.433													ENSG00000183706																																					0													203.0	201.0	202.0					15																	22382584		2193	4270	6463	SO:0001583	missense	0			-	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.112A>T	15.37:g.22382584A>T	ENSP00000332500:p.Ile38Phe		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I38F	ENST00000328795.4	37	c.112	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	13.59	2.281318	0.40394	.	.	ENSG00000183706	ENST00000328795	T	0.00599	6.3	3.24	3.24	0.37175	.	0.135801	0.33854	N	0.004491	T	0.01765	0.0056	M	0.70787	2.145	0.42338	D	0.992321	D	0.56287	0.975	P	0.60345	0.873	T	0.59968	-0.7354	10	0.87932	D	0	-9.2174	9.793	0.40717	1.0:0.0:0.0:0.0	.	38	Q8N0Y3	OR4N4_HUMAN	F	38	ENSP00000332500:I38F	ENSP00000332500:I38F	I	+	1	0	OR4N4	19883948	0.192000	0.23301	0.985000	0.45067	0.013000	0.08279	3.919000	0.56439	1.465000	0.48006	0.164000	0.16699	ATC	-	OR4N4	-	prints_GPCR_Rhodpsn		0.433	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	0	0		254	254		0.00		A			22382584	+1	27		297		tier1	no_errors	ENST00000328795	ensembl	human	known	74_37	missense	8.33		SNP	0.992	T	27	297
TXNDC9	10190	genome.wustl.edu	37	2	99944045	99944045	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:99944045C>T	ENST00000264255.3	-	3	516	c.261G>A	c.(259-261)aaG>aaA	p.K87K	TXNDC9_ENST00000409434.1_Silent_p.K87K|TXNDC9_ENST00000434323.1_Silent_p.K87K	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	87	Thioredoxin.				cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						TTTCACTCTCCTTGACTTCTT	0.373													ENSG00000115514																																					0													158.0	144.0	149.0					2																	99944045		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.261G>A	2.37:g.99944045C>T			B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.K87	ENST00000264255.3	37	c.261	CCDS2044.1	2																																																																																			-	TXNDC9	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.373	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC9	HGNC	protein_coding	OTTHUMT00000253129.1	0	0		65	65		0.00		C	NM_005783		99944045	-1	11		57		tier1	no_errors	ENST00000264255	ensembl	human	known	74_37	silent	16.18		SNP	1.000	T	11	57
PHEX	5251	genome.wustl.edu	37	X	22231040	22231040	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:22231040C>T	ENST00000379374.4	+	16	2230	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	PHEX_ENST00000418858.3_Silent_p.L258L|PHEX_ENST00000535894.1_Silent_p.L458L|PHEX_ENST00000537599.1_Silent_p.L555L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	555			L -> P (in XLHR). {ECO:0000269|PubMed:9768646}.		bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGGAGAGCTCCAGAAGCCTT	0.403													ENSG00000102174																																					0													104.0	102.0	103.0					X																	22231040		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1665C>T	X.37:g.22231040C>T			O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.L555	ENST00000379374.4	37	c.1665	CCDS14204.1	X																																																																																			-	PHEX	-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	0	0		18	18		0.00		C	NM_000444		22231040	+1	25		7		tier1	no_errors	ENST00000379374	ensembl	human	known	74_37	silent	78.12		SNP	0.988	T	25	7
MAN2A1	4124	genome.wustl.edu	37	5	109110495	109110495	+	Silent	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:109110495G>T	ENST00000261483.4	+	8	2255	c.1203G>T	c.(1201-1203)cgG>cgT	p.R401R		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	401					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTAGGGCTCGGATGCTACTAG	0.358													ENSG00000112893																																					0													61.0	60.0	60.0					5																	109110495		2202	4300	6502	SO:0001819	synonymous_variant	0			-		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1203G>T	5.37:g.109110495G>T			Q16767	Silent	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R401	ENST00000261483.4	37	c.1203	CCDS34209.1	5																																																																																			-	MAN2A1	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl		0.358	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	0	0		51	51		0.00		G			109110495	+1	5		27		tier1	no_errors	ENST00000261483	ensembl	human	known	74_37	silent	15.62		SNP	0.008	T	5	27
ADARB2	105	genome.wustl.edu	37	10	1577844	1577844	+	Intron	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:1577844G>C	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGTGGAGGCTGACAGGGACGC	0.542													ENSG00000205696																																					0																																										SO:0001627	intron_variant	0			-	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-156489C>G	10.37:g.1577844G>C			B2RPJ5|Q5VUT6|Q5VW42	R	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			-	ADARB2-AS1	-	-		0.542	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	0	0		53	53		0.00		G	NM_018702		1577844	+1	16		29		tier1	no_errors	ENST00000381301	ensembl	human	known	74_37	rna	34.78		SNP	1.000	C	16	29
C3orf79	152118	genome.wustl.edu	37	3	153203846	153203846	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:153203846C>T	ENST00000446603.2	+	2	237	c.175C>T	c.(175-177)Cct>Tct	p.P59S	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	59										endometrium(1)|large_intestine(3)	4						atatgggcaccctgccactct	0.368													ENSG00000237787																																					0													48.0	45.0	46.0					3																	153203846		1812	4074	5886	SO:0001583	missense	0			-	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.175C>T	3.37:g.153203846C>T	ENSP00000389475:p.Pro59Ser			Missense_Mutation	SNP	NULL	p.P59S	ENST00000446603.2	37	c.175	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	8.862	0.947223	0.18356	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.38	-1.43	0.08884	.	.	.	.	.	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.26202	0.067	T	0.27365	-1.0076	8	0.87932	D	0	.	7.9249	0.29867	0.3487:0.6513:0.0:0.0	.	59	P0CE67	CC079_HUMAN	S	59	.	ENSP00000389475:P59S	P	+	1	0	C3orf79	154686536	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.455000	0.21843	-0.288000	0.09051	-0.516000	0.04426	CCT	-	C3orf79	-	NULL		0.368	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	HGNC	protein_coding	OTTHUMT00000356570.1	0	0		39	39		0.00		C	NM_001101337		153203846	+1	11		28		tier1	no_errors	ENST00000446603	ensembl	human	known	74_37	missense	28.21		SNP	0.001	T	11	28
MTTP	4547	genome.wustl.edu	37	4	100521752	100521752	+	Silent	SNP	T	T	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:100521752T>G	ENST00000265517.5	+	9	1301	c.1098T>G	c.(1096-1098)gcT>gcG	p.A366A	MTTP_ENST00000457717.1_Silent_p.A366A|MTTP_ENST00000511045.1_Silent_p.A393A|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	366	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCACCTCTGCTCAGACCTCAG	0.408													ENSG00000138823																																					0													142.0	141.0	141.0					4																	100521752		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1098T>G	4.37:g.100521752T>G			A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A366	ENST00000265517.5	37	c.1098	CCDS3651.1	4																																																																																			-	MTTP	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.408	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	0	0		64	64		0.00		T			100521752	+1	19		59		tier1	no_errors	ENST00000265517	ensembl	human	known	74_37	silent	24.36		SNP	0.999	G	19	59
ZNF726	730087	genome.wustl.edu	37	19	24115259	24115259	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:24115259G>A	ENST00000594466.1	+	4	446	c.341G>A	c.(340-342)aGa>aAa	p.R114K	ZNF726_ENST00000575986.1_Intron|ZNF726_ENST00000334589.5_Intron|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000322487.7_Missense_Mutation_p.R114K	NM_001244038.1	NP_001230967.1	A6NNF4	ZN726_HUMAN	zinc finger protein 726	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTACAGTTAAGAAAAGGTTGT	0.373													ENSG00000213967																																					0																																										SO:0001583	missense	0			-	DQ036016, BC046415	CCDS59372.1	19p12	2013-01-08			ENSG00000213967	ENSG00000213967		"""Zinc fingers, C2H2-type"", ""-"""	32462	protein-coding gene	gene with protein product							Standard	NM_001244038		Approved		uc021urw.1	A6NNF4	OTTHUMG00000167681	ENST00000594466.1:c.341G>A	19.37:g.24115259G>A	ENSP00000471516:p.Arg114Lys		M0R0X8|Q86Y87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R114K	ENST00000594466.1	37	c.341	CCDS59372.1	19	.	.	.	.	.	.	.	.	.	.	g	2.182	-0.387286	0.04932	.	.	ENSG00000213967	ENST00000322487	T	0.06528	3.29	1.25	-2.51	0.06365	.	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41752	-0.9491	6	0.02654	T	1	.	2.2593	0.04063	0.5446:0.0:0.2101:0.2453	.	.	.	.	K	114	ENSP00000317125:R114K	ENSP00000317125:R114K	R	+	2	0	ZNF726	23907099	0.125000	0.22332	0.001000	0.08648	0.171000	0.22731	0.440000	0.21592	-1.053000	0.03218	0.205000	0.17691	AGA	-	ZNF726	-	NULL		0.373	ZNF726-005	PUTATIVE	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF726	HGNC	protein_coding	OTTHUMT00000466443.1	0	0		30	30		0.00		G	XM_001715134		24115259	+1	10		39		tier1	no_errors	ENST00000322487	ensembl	human	known	74_37	missense	20.41		SNP	0.003	A	10	39
USP24	23358	genome.wustl.edu	37	1	55534764	55534764	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:55534764A>G	ENST00000294383.6	-	68	7816	c.7817T>C	c.(7816-7818)aTg>aCg	p.M2606T	USP24_ENST00000407756.1_Missense_Mutation_p.M2446T|USP24_ENST00000484447.1_5'Flank	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2606					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACCAATCATCATGGGAGATTC	0.428													ENSG00000162402																																					0													121.0	114.0	116.0					1																	55534764		1954	4154	6108	SO:0001583	missense	0			-	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7817T>C	1.37:g.55534764A>G	ENSP00000294383:p.Met2606Thr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.M2446T	ENST00000294383.6	37	c.7337	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660267	0.67586	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02395	4.31;4.34	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.03305	0.0096	L	0.40543	1.245	0.58432	D	0.999999	B	0.19817	0.039	B	0.15052	0.012	T	0.47573	-0.9107	10	0.12430	T	0.62	.	14.6202	0.68579	1.0:0.0:0.0:0.0	.	2446	B7WPF4	.	T	2606;2446	ENSP00000294383:M2606T;ENSP00000385700:M2446T	ENSP00000294383:M2606T	M	-	2	0	USP24	55307352	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.159000	0.89651	2.023000	0.59567	0.533000	0.62120	ATG	-	USP24	-	NULL		0.428	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	0	0		27	27		0.00		A			55534764	-1	4		25		tier1	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	13.79		SNP	1.000	G	4	25
C9orf84	158401	genome.wustl.edu	37	9	114521079	114521079	+	Missense_Mutation	SNP	G	G	C	rs572225473		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr9:114521079G>C	ENST00000318737.4	-	4	428	c.300C>G	c.(298-300)caC>caG	p.H100Q	C9orf84_ENST00000374283.5_Missense_Mutation_p.H164Q|C9orf84_ENST00000394777.4_Missense_Mutation_p.H61Q|C9orf84_ENST00000394779.3_Missense_Mutation_p.H61Q|C9orf84_ENST00000374287.3_Missense_Mutation_p.H100Q	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	100										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGTTGGTAGGTGTTTTCTAC	0.279													ENSG00000165181																																					0													40.0	42.0	41.0					9																	114521079		2203	4298	6501	SO:0001583	missense	0			-	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.300C>G	9.37:g.114521079G>C	ENSP00000322108:p.His100Gln		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.H100Q	ENST00000318737.4	37	c.300	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.420803	0.00188	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.93	-9.77	0.00500	.	1.219250	0.05840	N	0.619206	T	0.16599	0.0399	N	0.11201	0.11	0.09310	N	0.999994	B;B;B;B	0.13145	0.001;0.001;0.003;0.007	B;B;B;B	0.12156	0.002;0.002;0.005;0.007	T	0.16453	-1.0402	10	0.09084	T	0.74	2.5721	0.6109	0.00761	0.4083:0.1438:0.1932:0.2547	.	61;164;100;61	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	Q	61;61;100;100;164	ENSP00000378259:H61Q;ENSP00000378257:H61Q;ENSP00000363405:H100Q;ENSP00000322108:H100Q;ENSP00000363401:H164Q	ENSP00000322108:H100Q	H	-	3	2	C9orf84	113560900	0.000000	0.05858	0.002000	0.10522	0.139000	0.21198	-2.125000	0.01317	-2.505000	0.00508	-0.225000	0.12378	CAC	-	C9orf84	-	NULL		0.279	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	0	0		40	40		0.00		G	NM_173521		114521079	-1	8		39		tier1	no_errors	ENST00000318737	ensembl	human	known	74_37	missense	17.02		SNP	0.010	C	8	39
WDR46	9277	genome.wustl.edu	37	6	33248252	33248252	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:33248252T>G	ENST00000374617.4	-	12	1833	c.1477A>C	c.(1477-1479)Agc>Cgc	p.S493R	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	493							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TGCTTCCGGCTTCTGTATGGA	0.607													ENSG00000227057																																					0													28.0	26.0	27.0					6																	33248252		2202	4300	6502	SO:0001583	missense	0			-	Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.1477A>C	6.37:g.33248252T>G	ENSP00000363746:p.Ser493Arg		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S493R	ENST00000374617.4	37	c.1477	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355709	0.82243	.	.	ENSG00000227057	ENST00000374617	T	0.21543	2.0	5.91	5.91	0.95273	BING4, C-terminal (1);	0.038063	0.85682	D	0.000000	T	0.39253	0.1071	M	0.77103	2.36	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.77004	0.96;0.989	T	0.36187	-0.9758	10	0.66056	D	0.02	-23.637	14.3013	0.66355	0.0:0.0:0.0:1.0	.	439;493	B4DP15;O15213	.;WDR46_HUMAN	R	493	ENSP00000363746:S493R	ENSP00000363746:S493R	S	-	1	0	WDR46	33356230	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.288000	0.78691	2.264000	0.75181	0.448000	0.29417	AGC	-	WDR46	-	pfam_BING4_C_dom		0.607	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2	0	0		92	92		0.00		T	NM_005452		33248252	-1	17		71		tier1	no_errors	ENST00000374617	ensembl	human	known	74_37	missense	19.10		SNP	1.000	G	17	71
HOXB1	3211	genome.wustl.edu	37	17	46607840	46607840	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:46607840G>C	ENST00000239174.6	-	1	519	c.427C>G	c.(427-429)Cct>Gct	p.P143A	HOXB1_ENST00000577092.1_Missense_Mutation_p.P143A	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	143					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCCCATAAGGGGGATGCTGC	0.617													ENSG00000120094																																					0													59.0	62.0	61.0					17																	46607840		2203	4300	6503	SO:0001583	missense	0			-		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.427C>G	17.37:g.46607840G>C	ENSP00000355140:p.Pro143Ala		Q4VB03	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P143A	ENST00000239174.6	37	c.427	CCDS32675.1	17	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724549	0.15439	.	.	ENSG00000120094	ENST00000239174	D	0.90133	-2.62	4.71	-1.44	0.08856	.	0.640806	0.13865	N	0.357396	T	0.78547	0.4300	L	0.28400	0.85	0.09310	N	0.999991	B	0.14012	0.009	B	0.11329	0.006	T	0.61078	-0.7135	10	0.09843	T	0.71	.	3.8462	0.08936	0.2206:0.1072:0.5516:0.1206	.	143	P14653	HXB1_HUMAN	A	143	ENSP00000355140:P143A	ENSP00000355140:P143A	P	-	1	0	HOXB1	43962839	1.000000	0.71417	0.233000	0.24025	0.081000	0.17604	2.192000	0.42649	-0.022000	0.13986	-0.175000	0.13238	CCT	-	HOXB1	-	NULL		0.617	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB1	HGNC	protein_coding	OTTHUMT00000358383.3	0	0		76	76		0.00		G			46607840	-1	43		70		tier1	no_errors	ENST00000239174	ensembl	human	known	74_37	missense	37.39		SNP	0.043	C	43	70
ANXA10	11199	genome.wustl.edu	37	4	169083688	169083688	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:169083688G>T	ENST00000359299.3	+	4	391	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	69						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GGACCTGATTGGGGATATGAG	0.398													ENSG00000109511																																					0													76.0	69.0	71.0					4																	169083688		2203	4300	6503	SO:0001583	missense	0			-	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.205G>T	4.37:g.169083688G>T	ENSP00000352248:p.Gly69Trp		Q96IQ5|Q9UJV4	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.G69W	ENST00000359299.3	37	c.205	CCDS34096.1	4	.	.	.	.	.	.	.	.	.	.	G	9.179	1.022995	0.19433	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03330	3.97	5.2	-0.989	0.10242	.	0.925190	0.09187	N	0.836644	T	0.04182	0.0116	L	0.52573	1.65	0.09310	N	0.999992	B	0.09022	0.002	B	0.10450	0.005	T	0.42464	-0.9450	10	0.87932	D	0	.	4.2427	0.10656	0.3511:0.0:0.4062:0.2427	.	69	Q9UJ72	ANX10_HUMAN	W	69	ENSP00000352248:G69W	ENSP00000352248:G69W	G	+	1	0	ANXA10	169320263	0.000000	0.05858	0.262000	0.24481	0.587000	0.36485	0.149000	0.16243	-0.213000	0.10094	0.585000	0.79938	GGG	-	ANXA10	-	pfam_Annexin_repeat,smart_Annexin_repeat		0.398	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	HGNC	protein_coding	OTTHUMT00000364348.2	0	0		60	60		0.00		G	NM_007193		169083688	+1	12		54		tier1	no_errors	ENST00000359299	ensembl	human	known	74_37	missense	18.18		SNP	0.104	T	12	54
PTPRB	5787	genome.wustl.edu	37	12	70988329	70988329	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:70988329C>T	ENST00000261266.5	-	4	809	c.780G>A	c.(778-780)ctG>ctA	p.L260L	PTPRB_ENST00000334414.6_Silent_p.L478L|PTPRB_ENST00000451516.2_Silent_p.L260L|PTPRB_ENST00000551525.1_Silent_p.L477L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.L260L|PTPRB_ENST00000550358.1_Silent_p.L478L|PTPRB_ENST00000538708.1_Silent_p.L260L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	260	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCAGGGGTCAGCCCGTGAA	0.502													ENSG00000127329																																					0													151.0	149.0	150.0					12																	70988329		2004	4191	6195	SO:0001819	synonymous_variant	0			-	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.780G>A	12.37:g.70988329C>T			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L478	ENST00000261266.5	37	c.1434	CCDS44944.1	12																																																																																			-	PTPRB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	0	0		59	59		0.00		C			70988329	-1	13		63		tier1	no_errors	ENST00000334414	ensembl	human	known	74_37	silent	17.11		SNP	0.994	T	13	63
ADARB2	105	genome.wustl.edu	37	10	1246213	1246213	+	Intron	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:1246213T>A	ENST00000381312.1	-	8	2008				ADARB2_ENST00000381305.1_5'UTR|ADARB2_ENST00000381310.3_Silent_p.G28G	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTTGGGGAGCTCCCTGGGAGT	0.652													ENSG00000185736																																					0																																										SO:0001627	intron_variant	0			-	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1683-126A>T	10.37:g.1246213T>A			B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.G28	ENST00000381312.1	37	c.84	CCDS7058.1	10																																																																																			-	ADARB2	-	smart_A_deamin		0.652	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	0	0		65	65		0.00		T	NM_018702		1246213	-1	13		27		tier1	no_errors	ENST00000381310	ensembl	human	known	74_37	silent	32.50		SNP	0.000	A	13	27
FRMD4B	23150	genome.wustl.edu	37	3	69351552	69351552	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:69351552C>T	ENST00000398540.3	-	4	441	c.358G>A	c.(358-360)Gtt>Att	p.V120I	FRMD4B_ENST00000542259.1_Missense_Mutation_p.V66I	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	120	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)				NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGTCAAGAACTCGGTGATCT	0.448													ENSG00000114541																																					0													110.0	110.0	110.0					3																	69351552		1929	4123	6052	SO:0001583	missense	0			-	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.358G>A	3.37:g.69351552C>T	ENSP00000381549:p.Val120Ile		Q8TAI3	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.V120I	ENST00000398540.3	37	c.358	CCDS46863.1	3	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397208	0.62177	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000473029;ENST00000460709;ENST00000459638	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.65	5.65	0.86999	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	L	0.41492	1.28	0.58432	D	0.999999	D;P	0.69078	0.997;0.956	D;D	0.74023	0.982;0.944	T	0.82874	-0.0241	10	0.72032	D	0.01	-15.5962	18.8761	0.92337	0.0:1.0:0.0:0.0	.	225;120	Q6PEW6;Q9Y2L6	.;FRM4B_HUMAN	I	120;66;66;66;66	ENSP00000381549:V120I;ENSP00000437658:V66I;ENSP00000418373:V66I;ENSP00000418023:V66I;ENSP00000417550:V66I	ENSP00000381549:V120I	V	-	1	0	FRMD4B	69434242	1.000000	0.71417	0.996000	0.52242	0.036000	0.12997	6.995000	0.76257	2.827000	0.97445	0.650000	0.86243	GTT	-	FRMD4B	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.448	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD4B	HGNC	protein_coding	OTTHUMT00000352111.1	0	0		95	95		0.00		C			69351552	-1	35		32		tier1	no_errors	ENST00000398540	ensembl	human	known	74_37	missense	52.24		SNP	1.000	T	35	32
GPRC5C	55890	genome.wustl.edu	37	17	72436058	72436058	+	Missense_Mutation	SNP	C	C	T	rs372728157		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:72436058C>T	ENST00000481232.1	+	2	789	c.278C>T	c.(277-279)gCg>gTg	p.A93V	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A60V|GPRC5C_ENST00000392627.1_Missense_Mutation_p.A93V			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	48					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CGCTCTGGGGCGTGGGGCATC	0.662													ENSG00000170412																																					0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	61.0	58.0	59.0		179,278	4.6	0.9	17		59	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	GPRC5C	NM_018653.3,NM_022036.2	64,64	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	60/454,93/487	72436058	2,13002	2203	4299	6502	SO:0001583	missense	0			-	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.278C>T	17.37:g.72436058C>T	ENSP00000462147:p.Ala93Val		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A93V	ENST00000481232.1	37	c.278		17	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592891	0.28357	0.0	2.33E-4	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	T	0.18657	2.2	5.55	4.59	0.56863	.	0.107189	0.64402	N	0.000007	T	0.19005	0.0456	L	0.45581	1.43	0.47441	D	0.999428	B;B;B;B	0.21821	0.023;0.06;0.039;0.061	B;B;B;B	0.19946	0.01;0.027;0.023;0.019	T	0.03503	-1.1030	10	0.30854	T	0.27	-4.2378	10.8788	0.46927	0.0:0.798:0.1296:0.0724	.	48;48;60;48	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	V	48;93;60;48	ENSP00000376405:A60V	ENSP00000340595:A93V	A	+	2	0	GPRC5C	69947653	0.027000	0.19231	0.927000	0.36925	0.733000	0.41908	0.383000	0.20651	1.348000	0.45733	0.561000	0.74099	GCG	-	GPRC5C	-	NULL		0.662	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145095.2	0	0		28	28		0.00		C			72436058	+1	6		44		tier1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	12.00		SNP	0.941	T	6	44
EEF1DP3	196549	genome.wustl.edu	37	13	32520168	32520168	+	RNA	SNP	T	T	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr13:32520168T>G	ENST00000428783.1	+	0	181							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										ACTAAATTCATCTCAAAATGA	0.363													ENSG00000229715																																					0																																												0			-			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32520168T>G			Q08AR3	R	SNP	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			-	EEF1DP3	-	-		0.363	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	HGNC	pseudogene	OTTHUMT00000044400.2	0	0		45	45		0.00		T	NR_027062		32520168	+1	15		28		tier1	no_errors	ENST00000428783	ensembl	human	known	74_37	rna	34.88		SNP	0.018	G	15	28
SP3	6670	genome.wustl.edu	37	2	174819714	174819715	+	Frame_Shift_Ins	INS	-	-	T	rs555091832		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:174819714_174819715insT	ENST00000310015.6	-	4	2055_2056	c.1525_1526insA	c.(1525-1527)actfs	p.T509fs	SP3_ENST00000455789.2_Frame_Shift_Ins_p.T456fs|SP3_ENST00000418194.2_Frame_Shift_Ins_p.T441fs|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	509					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTAACTGGAGTTGAAGTGAAG	0.441													ENSG00000172845																																					0																																										SO:0001589	frameshift_variant	0				M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1526dupA	2.37:g.174819716_174819716dupT	ENSP00000310301:p.Thr509fs		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T509fs	ENST00000310015.6	37	c.1526_1525	CCDS2254.1	2																																																																																				SP3	-	NULL		0.441	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	0	0		58	58		0.00		-	NM_003111		174819715	-1	14		38		tier1	no_errors	ENST00000310015	ensembl	human	known	74_37	frame_shift_ins	26.92		INS	1.000:1.000	T	14	38
SDHA	6389	genome.wustl.edu	37	5	251510	251510	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:251510G>C	ENST00000264932.6	+	13	1836	c.1721G>C	c.(1720-1722)tGt>tCt	p.C574S	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Missense_Mutation_p.C526S	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	574					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGATGCTGTGTGCGCTGCAG	0.622									Familial Paragangliomas				ENSG00000073578																																					0													33.0	42.0	39.0					5																	251510		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	-	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1721G>C	5.37:g.251510G>C	ENSP00000264932:p.Cys574Ser		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.C574S	ENST00000264932.6	37	c.1721	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	N	3.239	-0.155773	0.06544	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000510361;ENST00000509564	T;T;T	0.80393	-1.37;-1.37;-1.37	3.69	3.69	0.42338	Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal (2);Fumarate reductase/succinate dehydrogenase flavoprotein, C-terminal (1);	0.128767	0.52532	U	0.000074	T	0.79233	0.4411	M	0.81497	2.545	0.41341	D	0.987307	B;B;B;B	0.30068	0.057;0.093;0.267;0.06	B;B;B;B	0.32533	0.026;0.066;0.147;0.028	T	0.75042	-0.3457	10	0.11182	T	0.66	.	13.2821	0.60222	0.0:0.0:1.0:0.0	.	526;574;168;574	E9PBJ5;B4DYN5;B3KYA5;P31040	.;.;.;DHSA_HUMAN	S	574;429;526;20	ENSP00000264932:C574S;ENSP00000427703:C526S;ENSP00000421911:C20S	ENSP00000264932:C574S	C	+	2	0	SDHA	304510	1.000000	0.71417	0.222000	0.23844	0.948000	0.59901	6.317000	0.72862	1.794000	0.52575	0.305000	0.20034	TGT	-	SDHA	-	pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.622	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	0	0		65	65		0.00		G	NM_004168		251510	+1	57		88		tier1	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	39.31		SNP	0.992	C	57	88
OTP	23440	genome.wustl.edu	37	5	76932914	76932914	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:76932914C>G	ENST00000306422.3	-	2	1317	c.179G>C	c.(178-180)gGg>gCg	p.G60A	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	60					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GATGTCCTCCCCGGGCAGCAG	0.726													ENSG00000171540																																					0													16.0	20.0	18.0					5																	76932914		2199	4294	6493	SO:0001583	missense	0			-		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.179G>C	5.37:g.76932914C>G	ENSP00000302814:p.Gly60Ala			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom	p.G60A	ENST00000306422.3	37	c.179	CCDS4039.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.690083	0.88735	.	.	ENSG00000171540	ENST00000306422	D	0.91945	-2.94	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.92564	0.7638	L	0.27053	0.805	0.58432	D	0.999999	D	0.61080	0.989	P	0.60473	0.875	D	0.93444	0.6796	10	0.66056	D	0.02	.	18.7086	0.91648	0.0:1.0:0.0:0.0	.	60	Q5XKR4	OTP_HUMAN	A	60	ENSP00000302814:G60A	ENSP00000302814:G60A	G	-	2	0	OTP	76968670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.189000	0.77747	2.732000	0.93576	0.655000	0.94253	GGG	-	OTP	-	NULL		0.726	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTP	HGNC	protein_coding	OTTHUMT00000220016.2	0	0		88	88		0.00		C			76932914	-1	19		61		tier1	no_errors	ENST00000306422	ensembl	human	known	74_37	missense	23.75		SNP	1.000	G	19	61
NR2E1	7101	genome.wustl.edu	37	6	108499369	108499369	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:108499369C>G	ENST00000368986.4	+	5	1274	c.566C>G	c.(565-567)gCt>gGt	p.A189G	NR2E1_ENST00000368983.3_Missense_Mutation_p.A226G	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	189	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGTGAATCAGCTGCCAGACTT	0.527													ENSG00000112333																																					0													121.0	104.0	109.0					6																	108499369		2203	4300	6503	SO:0001583	missense	0			-	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.566C>G	6.37:g.108499369C>G	ENSP00000357982:p.Ala189Gly		Q6ZMP8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.A189G	ENST00000368986.4	37	c.566	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884996	0.91814	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97066	-4.23;-4.23	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.98834	1.0752	10	0.72032	D	0.01	.	17.4002	0.87458	0.0:1.0:0.0:0.0	.	189	Q9Y466	NR2E1_HUMAN	G	189;226	ENSP00000357982:A189G;ENSP00000357979:A226G	ENSP00000357979:A226G	A	+	2	0	NR2E1	108606062	1.000000	0.71417	0.885000	0.34714	0.760000	0.43138	7.487000	0.81328	2.642000	0.89623	0.650000	0.86243	GCT	-	NR2E1	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt		0.527	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	HGNC	protein_coding	OTTHUMT00000041712.2	0	0		79	79		0.00		C			108499369	+1	15		64		tier1	no_errors	ENST00000368986	ensembl	human	known	74_37	missense	18.75		SNP	0.997	G	15	64
KIAA2013	90231	genome.wustl.edu	37	1	11983413	11983413	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11983413C>G	ENST00000376572.3	-	2	1352	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	KIAA2013_ENST00000376576.3_Missense_Mutation_p.Q389H	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	389						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACTCCATCTGGTCTCGCT	0.642													ENSG00000116685																																					0													71.0	61.0	65.0					1																	11983413		2203	4300	6503	SO:0001583	missense	0			-	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1167G>C	1.37:g.11983413C>G	ENSP00000365756:p.Gln389His		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	pfam_DUF2152	p.Q389H	ENST00000376572.3	37	c.1167	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518005	0.27211	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	4.38	0.52667	.	0.345778	0.30142	N	0.010319	T	0.26304	0.0642	N	0.12182	0.205	0.33888	D	0.636955	B;B	0.23128	0.039;0.08	B;B	0.19946	0.023;0.027	T	0.24154	-1.0168	9	0.34782	T	0.22	-0.5783	7.4757	0.27374	0.0:0.7557:0.0:0.2443	.	389;389	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	H	389	.	ENSP00000365756:Q389H	Q	-	3	2	KIAA2013	11906000	0.810000	0.29049	1.000000	0.80357	0.764000	0.43329	-0.019000	0.12546	2.764000	0.94973	0.650000	0.86243	CAG	-	KIAA2013	-	pfam_DUF2152		0.642	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	0	0		98	98		0.00		C	NM_138346		11983413	-1	13		87		tier1	no_errors	ENST00000376576	ensembl	human	known	74_37	missense	13.00		SNP	1.000	G	13	87
OR11H1	81061	genome.wustl.edu	37	22	16449006	16449006	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr22:16449006A>T	ENST00000252835.4	-	1	799	c.799T>A	c.(799-801)Tat>Aat	p.Y267N		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AGAGAGCTATAGCACAGTGAT	0.463													ENSG00000130538																																					0													2.0	1.0	1.0					22																	16449006		411	753	1164	SO:0001583	missense	0			-	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.799T>A	22.37:g.16449006A>T	ENSP00000252835:p.Tyr267Asn		Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y267N	ENST00000252835.4	37	c.799	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	a	11.89	1.774726	0.31411	.	.	ENSG00000130538	ENST00000252835	T	0.41400	1.0	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001749	T	0.68513	0.3009	H	0.94423	3.535	0.24392	N	0.994743	D	0.89917	1.0	D	0.91635	0.999	T	0.59558	-0.7432	10	0.87932	D	0	.	7.8049	0.29195	1.0:0.0:0.0:0.0	.	267	Q8NG94	O11H1_HUMAN	N	267	ENSP00000252835:Y267N	ENSP00000252835:Y267N	Y	-	1	0	OR11H1	14829006	0.000000	0.05858	0.967000	0.41034	0.582000	0.36321	0.194000	0.17135	0.826000	0.34661	0.302000	0.19851	TAT	-	OR11H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	0	0		48	48		0.00		A	NM_001005239		16449006	-1	13		40		tier1	no_errors	ENST00000252835	ensembl	human	known	74_37	missense	24.53		SNP	0.915	T	13	40
AKAP12	9590	genome.wustl.edu	37	6	151672827	151672827	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:151672827G>T	ENST00000253332.1	+	3	3490	c.3301G>T	c.(3301-3303)Gca>Tca	p.A1101S	AKAP12_ENST00000402676.2_Missense_Mutation_p.A1101S|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1003S|AKAP12_ENST00000359755.5_Missense_Mutation_p.A996S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1101					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCTCAGGAGGCAAAAACTGA	0.512													ENSG00000131016																									Melanoma(141;1616 1805 10049 24534 51979)												0													48.0	48.0	48.0					6																	151672827		2203	4300	6503	SO:0001583	missense	0			-	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3301G>T	6.37:g.151672827G>T	ENSP00000253332:p.Ala1101Ser		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.A1101S	ENST00000253332.1	37	c.3301	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411332	0.25465	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08458	3.09;3.09;3.1;3.1	5.26	0.481	0.16809	.	0.389904	0.18953	N	0.126628	T	0.01222	0.0040	L	0.27053	0.805	0.09310	N	1	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.13407	0.009;0.009;0.004	T	0.47548	-0.9109	10	0.10111	T	0.7	.	5.3541	0.16051	0.3705:0.1701:0.4594:0.0	.	996;1003;1101	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	S	1101;1101;1003;996	ENSP00000384537:A1101S;ENSP00000253332:A1101S;ENSP00000346702:A1003S;ENSP00000352794:A996S	ENSP00000253332:A1101S	A	+	1	0	AKAP12	151714520	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	-1.126000	0.03254	0.349000	0.23975	-0.391000	0.06502	GCA	-	AKAP12	-	NULL		0.512	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	0	0		22	22		0.00		G			151672827	+1	11		19		tier1	no_errors	ENST00000253332	ensembl	human	known	74_37	missense	36.67		SNP	0.000	T	11	19
ARC	23237	genome.wustl.edu	37	8	143693468	143693468	+	Splice_Site	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:143693468C>A	ENST00000356613.2	-	2	3134		c.e2+1		ARC_ENST00000581404.1_5'UTR	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGCTCCGTTACCTGTTGTCAC	0.647													ENSG00000198576																																					0																																										SO:0001630	splice_region_variant	0			-	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.1188+1G>T	8.37:g.143693468C>A			B4DFL0|O60937	Splice_Site	SNP	-	e1+1	ENST00000356613.2	37	c.1191+1	CCDS34950.1	8																																																																																			-	ARC	-	-		0.647	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	0	0		111	111		0.00		C		Intron	143693468	-1	28		115		tier1	no_errors	ENST00000356613	ensembl	human	known	74_37	splice_site	19.58		SNP	1.000	A	28	115
NPTXR	23467	genome.wustl.edu	37	22	39218630	39218630	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr22:39218630C>T	ENST00000333039.2	-	5	1610	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	496	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTTGGCCCTCCCCTTGCAGAC	0.627													ENSG00000221890																									Pancreas(139;2521 3281 36965)												0													39.0	26.0	30.0					22																	39218630		2203	4300	6503	SO:0001583	missense	0			-	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1487G>A	22.37:g.39218630C>T	ENSP00000327545:p.Gly496Glu			Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G496E	ENST00000333039.2	37	c.1487	CCDS33647.1	22	.	.	.	.	.	.	.	.	.	.	C	0.232	-1.020583	0.02061	.	.	ENSG00000221890	ENST00000333039	T	0.08008	3.14	3.76	3.76	0.43208	.	0.331953	0.29376	N	0.012321	T	0.01695	0.0054	N	0.00347	-1.61	0.35316	D	0.784323	B	0.11235	0.004	B	0.09377	0.004	T	0.31833	-0.9929	9	0.02654	T	1	-37.1927	8.7705	0.34728	0.0:0.8405:0.0:0.1595	.	496	O95502	NPTXR_HUMAN	E	496	ENSP00000327545:G496E	ENSP00000327545:G496E	G	-	2	0	NPTXR	37548576	.	.	0.985000	0.45067	0.685000	0.39939	.	.	2.037000	0.60232	0.462000	0.41574	GGG	-	NPTXR	-	NULL		0.627	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2	0	0		26	26		0.00		C	NM_014293		39218630	-1	11		43		tier1	no_errors	ENST00000333039	ensembl	human	known	74_37	missense	20.37		SNP	0.998	T	11	43
NMNAT2	23057	genome.wustl.edu	37	1	183273820	183273820	+	Intron	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:183273820A>C	ENST00000287713.6	-	2	420				NMNAT2_ENST00000294868.4_Missense_Mutation_p.F19V	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AGAGTAACAAACACTTCCCAG	0.537													ENSG00000157064																																					0													151.0	139.0	143.0					1																	183273820		2203	4300	6503	SO:0001627	intron_variant	0			-	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.86-10892T>G	1.37:g.183273820A>C			O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cyt_trans-like	p.F19V	ENST00000287713.6	37	c.55	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	.	6.485	0.457592	0.12342	.	.	ENSG00000157064	ENST00000294868	D	0.96940	-4.18	3.78	2.64	0.31445	.	.	.	.	.	D	0.92384	0.7583	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	D	0.85921	0.1446	8	0.87932	D	0	.	5.3862	0.16220	0.8622:0.0:0.1378:0.0	.	19	Q9BZQ4-2	.	V	19	ENSP00000294868:F19V	ENSP00000294868:F19V	F	-	1	0	NMNAT2	181540443	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.301000	0.08232	0.622000	0.30249	0.459000	0.35465	TTT	-	NMT2	-	NULL		0.537	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000086255.1	0	0		36	36		0.00		A			183273820	-1	19		23		tier1	no_errors	ENST00000294868	ensembl	human	known	74_37	missense	45.24		SNP	0.002	C	19	23
CHST1	8534	genome.wustl.edu	37	11	45670491	45670491	+	3'UTR	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:45670491G>T	ENST00000308064.2	-	0	2653				CHST1_ENST00000533673.1_5'UTR|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGTTCATTTAGCAAACTGATC	0.358													ENSG00000175264																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.*747C>A	11.37:g.45670491G>T			D3DQP2	R	SNP	-	NULL	ENST00000308064.2	37	NULL	CCDS7913.1	11																																																																																			-	CHST1	-	-		0.358	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	0	0		27	27		0.00		G	NM_003654		45670491	-1	4		22		tier1	no_errors	ENST00000533673	ensembl	human	known	74_37	rna	15.38		SNP	1.000	T	4	22
TBX21	30009	genome.wustl.edu	37	17	45821866	45821866	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:45821866G>T	ENST00000177694.1	+	5	1157	c.946G>T	c.(946-948)Gat>Tat	p.D316Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	316					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGAAAATTGATAATAACCC	0.493													ENSG00000073861																																					0													71.0	78.0	76.0					17																	45821866		2203	4300	6503	SO:0001583	missense	0			-	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.946G>T	17.37:g.45821866G>T	ENSP00000177694:p.Asp316Tyr			Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D316Y	ENST00000177694.1	37	c.946	CCDS11514.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406619	0.83230	.	.	ENSG00000073861	ENST00000177694	D	0.89196	-2.48	5.11	5.11	0.69529	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.92412	3.305	0.80722	D	1	P	0.52577	0.954	P	0.60012	0.867	D	0.96388	0.9287	10	0.87932	D	0	.	17.3	0.87180	0.0:0.0:1.0:0.0	.	316	Q9UL17	TBX21_HUMAN	Y	316	ENSP00000177694:D316Y	ENSP00000177694:D316Y	D	+	1	0	TBX21	43176865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.368000	0.97152	2.362000	0.80069	0.563000	0.77884	GAT	-	TBX21	-	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box		0.493	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX21	HGNC	protein_coding	OTTHUMT00000441365.1	0	0		46	46		0.00		G	NM_013351		45821866	+1	10		33		tier1	no_errors	ENST00000177694	ensembl	human	known	74_37	missense	23.26		SNP	1.000	T	10	33
CRISP3	10321	genome.wustl.edu	37	6	49703228	49703228	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:49703228T>A	ENST00000393666.1	-	3	272	c.266A>T	c.(265-267)gAt>gTt	p.D89V	CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000433368.2_Missense_Mutation_p.D112V|CRISP3_ENST00000371159.4_Missense_Mutation_p.D120V|CRISP3_ENST00000263045.4_Missense_Mutation_p.D102V			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	89	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTCATTCGATCCTTTGGGTT	0.333													ENSG00000096006																																					0													142.0	133.0	136.0					6																	49703228		2203	4300	6503	SO:0001583	missense	0			-	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.266A>T	6.37:g.49703228T>A	ENSP00000377274:p.Asp89Val		A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.D112V	ENST00000393666.1	37	c.335		6	.	.	.	.	.	.	.	.	.	.	T	8.217	0.801626	0.16397	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000371159;ENST00000354620	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	4.49	1.9	0.25705	CAP domain (3);	4.065750	0.01580	U	0.021020	T	0.05593	0.0147	M	0.76433	2.335	0.09310	N	0.999998	P	0.41673	0.759	B	0.42555	0.391	T	0.35251	-0.9796	10	0.29301	T	0.29	.	7.0808	0.25229	0.3637:0.0:0.0:0.6363	.	89	P54108	CRIS3_HUMAN	V	102;112;89;120;112	ENSP00000263045:D102V;ENSP00000389026:D112V;ENSP00000377274:D89V;ENSP00000360201:D120V;ENSP00000346636:D112V	ENSP00000263045:D102V	D	-	2	0	CRISP3	49811187	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.763000	0.04740	0.153000	0.19213	-0.695000	0.03696	GAT	-	CRISP3	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1		0.333	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding		0	0		87	87		0.00		T	NM_006061		49703228	-1	9		89		tier1	no_errors	ENST00000433368	ensembl	human	known	74_37	missense	9.00		SNP	0.000	A	9	89
NPY4R	5540	genome.wustl.edu	37	10	47087186	47087186	+	Missense_Mutation	SNP	G	G	A	rs144429123		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:47087186G>A	ENST00000395716.1	+	2	488	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	NPY4R_ENST00000374312.1_Missense_Mutation_p.V135M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	135					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.V135M(1)									GCTCGTCCTCGTGGCCCTGGA	0.572													ENSG00000204174																																					1	Substitution - Missense(1)	large_intestine(1)											288.0	256.0	267.0					10																	47087186		2203	4300	6503	SO:0001583	missense	0			-		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.403G>A	10.37:g.47087186G>A	ENSP00000379066:p.Val135Met		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V135M	ENST00000395716.1	37	c.403	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978308	0.53720	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.70986	-0.53;-0.53	4.93	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.136285	0.49916	D	0.000137	T	0.70141	0.3190	N	0.26042	0.785	0.40798	D	0.983314	D	0.76494	0.999	D	0.64687	0.928	T	0.72734	-0.4204	10	0.87932	D	0	.	8.1752	0.31278	0.1832:0.0:0.8168:0.0	.	135	P50391	NPY4R_HUMAN	M	135	ENSP00000363431:V135M;ENSP00000379066:V135M	ENSP00000363431:V135M	V	+	1	0	PPYR1	46507192	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	6.054000	0.71096	2.464000	0.83262	0.609000	0.83330	GTG	rs144429123	NPY4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.572	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	HGNC	protein_coding	OTTHUMT00000047837.1	0	0		96	96		0.00		G			47087186	+1	12		56		tier1	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	17.65		SNP	1.000	A	12	56
TAGLN2	8407	genome.wustl.edu	37	1	159889571	159889572	+	In_Frame_Ins	INS	-	-	TAA			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:159889571_159889572insTAA	ENST00000368097.4	-	3	544_545	c.234_235insTTA	c.(232-237)aagaag>aagTTAaag	p.78_79KK>KLK	TAGLN2_ENST00000368096.1_In_Frame_Ins_p.99_100KK>KLK|TAGLN2_ENST00000320307.4_In_Frame_Ins_p.78_79KK>KLK|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTGGATCTTCTTTACTGGGG	0.53													ENSG00000158710																																					0																																										SO:0001652	inframe_insertion	0				D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.234_235insTTA	1.37:g.159889571_159889572insTAA	ENSP00000357077:p.Lys78_Lys79insLeu		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	In_Frame_Ins	INS	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.99in_frame_insL	ENST00000368097.4	37	c.298_297	CCDS1189.1	1																																																																																				TAGLN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.530	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	HGNC	protein_coding	OTTHUMT00000059105.1	0	0		26	26		0.00		-	NM_003564		159889572	-1	19		90		tier1	no_errors	ENST00000368096	ensembl	human	known	74_37	in_frame_ins	17.43		INS	1.000:1.000	TAA	19	90
STARD9	57519	genome.wustl.edu	37	15	42983936	42983936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:42983936C>A	ENST00000290607.7	+	23	10217	c.10160C>A	c.(10159-10161)tCa>tAa	p.S3387*		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	3387					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CAGAAAGCCTCATCTCGCTTG	0.537													ENSG00000159433																																					0													84.0	81.0	82.0					15																	42983936		692	1590	2282	SO:0001587	stop_gained	0			-	AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.10160C>A	15.37:g.42983936C>A	ENSP00000290607:p.Ser3387*		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S3387*	ENST00000290607.7	37	c.10160	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	C	50	16.464343	0.99864	.	.	ENSG00000159433	ENST00000290607	.	.	.	5.19	-1.66	0.08265	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4535	0.21916	0.0:0.4031:0.1272:0.4698	.	.	.	.	X	3387	.	ENSP00000290607:S3387X	S	+	2	0	STARD9	40771228	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.806000	0.04525	-0.223000	0.09943	0.313000	0.20887	TCA	-	STARD9	-	NULL		0.537	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	0	0		35	35		0.00		C			42983936	+1	6		54		tier1	no_errors	ENST00000290607	ensembl	human	known	74_37	nonsense	10.00		SNP	0.000	A	6	54
LRRC37A3	374819	genome.wustl.edu	37	17	62892261	62892261	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:62892261T>A	ENST00000584306.1	-	3	1645	c.1115A>T	c.(1114-1116)gAg>gTg	p.E372V	RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E372V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	372						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATTCGACCTCCCTAGAAGA	0.522													ENSG00000176809																																					0													25.0	32.0	30.0					17																	62892261		1985	4100	6085	SO:0001583	missense	0			-	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1115A>T	17.37:g.62892261T>A	ENSP00000464535:p.Glu372Val		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E372V	ENST00000584306.1	37	c.1115	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	9.986	1.229489	0.22542	.	.	ENSG00000176809	ENST00000319651	T	0.68624	-0.34	2.59	-2.07	0.07276	.	.	.	.	.	T	0.56366	0.1980	M	0.69823	2.125	0.09310	N	1	B	0.33266	0.404	B	0.32533	0.147	T	0.55496	-0.8132	9	0.87932	D	0	.	0.2861	0.00251	0.2236:0.1522:0.2277:0.3964	.	372	O60309	L37A3_HUMAN	V	372	ENSP00000325713:E372V	ENSP00000325713:E372V	E	-	2	0	LRRC37A3	60322723	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	0.005000	0.13129	-0.162000	0.10964	0.234000	0.17832	GAG	-	LRRC37A3	-	NULL		0.522	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	1	1		198	198		0.50		T	NM_199340		62892261	-1	28		240		tier1	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	10.45		SNP	0.000	A	28	240
NIPAL2	79815	genome.wustl.edu	37	8	99205061	99205061	+	3'UTR	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:99205061C>T	ENST00000341166.3	-	0	1580				RNU6-914P_ENST00000516749.1_RNA|NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_3'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2							integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CCCCGATTGTCCATAGACGCT	0.433													ENSG00000104361																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK024017	CCDS6278.1	8q22.2	2009-03-24		2009-03-24	ENSG00000104361	ENSG00000104361			25854	protein-coding gene	gene with protein product				NPAL2		14702039	Standard	NM_024759		Approved	FLJ13955	uc003yil.1	Q9H841	OTTHUMG00000164668	ENST00000341166.3:c.*218G>A	8.37:g.99205061C>T			A2RTY8	R	SNP	-	NULL	ENST00000341166.3	37	NULL	CCDS6278.1	8																																																																																			-	NIPAL2	-	-		0.433	NIPAL2-001	KNOWN	basic|CCDS	protein_coding	NIPAL2	HGNC	protein_coding	OTTHUMT00000379677.1	0	0		39	39		0.00		C	NM_024759		99205061	-1	10		34		tier1	no_errors	ENST00000520545	ensembl	human	known	74_37	rna	22.73		SNP	0.081	T	10	34
SLIT3	6586	genome.wustl.edu	37	5	168123305	168123305	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:168123305T>A	ENST00000519560.1	-	28	3493	c.3074A>T	c.(3073-3075)aAc>aTc	p.N1025I	SLIT3_ENST00000332966.8_Missense_Mutation_p.N1032I|SLIT3_ENST00000404867.3_Missense_Mutation_p.N1025I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1025	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGTGTAGTTAGGCGGACA	0.502													ENSG00000184347																									Ovarian(29;311 847 10864 17279 24903)												0													274.0	233.0	247.0					5																	168123305		2203	4300	6503	SO:0001583	missense	0			-	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3074A>T	5.37:g.168123305T>A	ENSP00000430333:p.Asn1025Ile		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1025I	ENST00000519560.1	37	c.3074	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232271	0.39498	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.92446	-3.04;-3.04;-3.04	5.22	5.22	0.72569	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	L	0.42581	1.335	0.80722	D	1	B	0.33299	0.407	B	0.39299	0.296	D	0.88577	0.3134	10	0.34782	T	0.22	.	15.1243	0.72469	0.0:0.0:0.0:1.0	.	1025	O75094	SLIT3_HUMAN	I	1025;1032;1025	ENSP00000430333:N1025I;ENSP00000332164:N1032I;ENSP00000384890:N1025I	ENSP00000332164:N1032I	N	-	2	0	SLIT3	168055883	1.000000	0.71417	0.971000	0.41717	0.236000	0.25371	7.796000	0.85898	1.974000	0.57490	0.533000	0.62120	AAC	-	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	0	0		74	74		0.00		T	NM_003062		168123305	-1	14		76		tier1	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	15.56		SNP	1.000	A	14	76
DMXL2	23312	genome.wustl.edu	37	15	51751092	51751097	+	Intron	DEL	AGCAGC	AGCAGC	-	rs76476368|rs111734926|rs28362472|rs578027761|rs370429483|rs555701753	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	AGCAGC	AGCAGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:51751092_51751097delAGCAGC	ENST00000251076.5	-	34	8211				DMXL2_ENST00000543779.2_Intron|DMXL2_ENST00000449909.3_Intron|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGAAAATGTagcagcagcagcagca	0.369													ENSG00000259668																																					0																																										SO:0001627	intron_variant	0				AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7924-100GCTGCT>-	15.37:g.51751098_51751103delAGCAGC			B2RTR3|B7ZMH3|F5GWF1|O94938	R	DEL	-	NULL	ENST00000251076.5	37	NULL	CCDS10141.1	15																																																																																				RP11-707P17.2	-	-		0.369	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	ENSG00000259668	Clone_based_vega_gene	protein_coding	OTTHUMT00000254671.2									AGCAGC	NM_015263		51751097	+1					tier1	no_errors	ENST00000559173	ensembl	human	known	74_37	rna			DEL	0.994:0.992:0.991:0.990:0.990:0.990	-		
LOC648987	648987	genome.wustl.edu	37	5	43017498	43017498	+	RNA	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:43017498G>A	ENST00000509036.1	+	0	0				CTD-2035E11.3_ENST00000506791.1_RNA|CTD-2201E18.3_ENST00000314957.3_RNA																							AGGCGACTGTGCCTTTCATTC	0.537													ENSG00000177738																																					0																																												0			-																													5.37:g.43017498G>A				R	SNP	-	NULL	ENST00000509036.1	37	NULL		5																																																																																			-	CTD-2201E18.3	-	-		0.537	CTD-2035E11.3-001	KNOWN	basic|exp_conf	antisense	LOC648987	Clone_based_vega_gene	antisense	OTTHUMT00000368047.1	0	0		45	45		0.00		G			43017498	-1	11		27		tier1	no_errors	ENST00000314957	ensembl	human	known	74_37	rna	28.95		SNP	0.021	A	11	27
SLIT3	6586	genome.wustl.edu	37	5	168123307	168123307	+	Silent	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:168123307A>T	ENST00000519560.1	-	28	3491	c.3072T>A	c.(3070-3072)ccT>ccA	p.P1024P	SLIT3_ENST00000332966.8_Silent_p.P1031P|SLIT3_ENST00000404867.3_Silent_p.P1024P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1024	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGTGTAGTTAGGCGGACAGA	0.502													ENSG00000184347																									Ovarian(29;311 847 10864 17279 24903)												0													274.0	233.0	247.0					5																	168123307		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3072T>A	5.37:g.168123307A>T			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1024	ENST00000519560.1	37	c.3072	CCDS4369.1	5																																																																																			-	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	0	0		74	74		0.00		A	NM_003062		168123307	-1	14		77		tier1	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	15.38		SNP	0.002	T	14	77
CAMTA1	23261	genome.wustl.edu	37	1	7723664	7723664	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:7723664G>A	ENST00000303635.7	+	9	1264	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D353N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGAAGTCCCCGACACCACCCA	0.657			T	WWTR1	epitheliod hemangioendothelioma								ENSG00000171735																												Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													106.0	105.0	105.0					1																	7723664		2203	4300	6503	SO:0001583	missense	0			-	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1057G>A	1.37:g.7723664G>A	ENSP00000306522:p.Asp353Asn		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.D353N	ENST00000303635.7	37	c.1057	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.276166	0.80580	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.46819	0.86;0.86	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.53249	1.67	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.61797	-0.6989	10	0.34782	T	0.22	-23.0588	18.4285	0.90617	0.0:0.0:1.0:0.0	.	353	Q9Y6Y1	CMTA1_HUMAN	N	353	ENSP00000306522:D353N;ENSP00000402561:D353N	ENSP00000306522:D353N	D	+	1	0	CAMTA1	7646251	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.695000	0.98691	2.357000	0.79964	0.543000	0.68304	GAC	-	CAMTA1	-	NULL		0.657	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	0	0		55	55		0.00		G	NM_015215		7723664	+1	18		48		tier1	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	27.27		SNP	1.000	A	18	48
PADI4	23569	genome.wustl.edu	37	1	17668836	17668836	+	Missense_Mutation	SNP	C	C	T	rs375905749		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:17668836C>T	ENST00000375448.4	+	8	900	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	292					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CGTGGTCTTCCGCGTGGCGCC	0.682													ENSG00000159339																																					0								C	CYS/ARG	0,4406		0,0,2203	57.0	55.0	55.0		874	5.0	1.0	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	PADI4	NM_012387.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	292/664	17668836	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.874C>T	1.37:g.17668836C>T	ENSP00000364597:p.Arg292Cys		A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.R292C	ENST00000375448.4	37	c.874	CCDS180.1	1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.936479	0.73442	0.0	1.16E-4	ENSG00000159339	ENST00000375448	T	0.35048	1.33	4.97	4.97	0.65823	Protein-arginine deiminase, C-terminal (1);Protein-arginine deiminase (PAD), central domain (1);	0.114454	0.64402	D	0.000019	T	0.70649	0.3248	H	0.95043	3.615	0.48901	D	0.999728	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.80654	-0.1286	10	0.87932	D	0	-9.9935	15.0236	0.71650	0.0:1.0:0.0:0.0	.	292;292	A8K392;Q9UM07	.;PADI4_HUMAN	C	292	ENSP00000364597:R292C	ENSP00000364597:R292C	R	+	1	0	PADI4	17541423	1.000000	0.71417	0.987000	0.45799	0.945000	0.59286	4.375000	0.59549	2.312000	0.78011	0.555000	0.69702	CGC	-	PADI4	-	pfam_PAD_C,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub		0.682	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI4	HGNC	protein_coding	OTTHUMT00000006799.1	0	0		68	68		0.00		C	NM_012387		17668836	+1	26		67		tier1	no_errors	ENST00000375448	ensembl	human	known	74_37	missense	27.96		SNP	1.000	T	26	67
FRAS1	80144	genome.wustl.edu	37	4	79350248	79350248	+	Splice_Site	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:79350248G>C	ENST00000325942.6	+	36	5151		c.e36-1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCCTTTTTAGTTTCAGATGG	0.493													ENSG00000138759																																					0													47.0	48.0	48.0					4																	79350248		2037	4145	6182	SO:0001630	splice_region_variant	0			-	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4712-1G>C	4.37:g.79350248G>C			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	-	e36-1	ENST00000325942.6	37	c.4712-1	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896561	0.33442	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000510944	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79569272	1.000000	0.71417	0.996000	0.52242	0.009000	0.06853	9.101000	0.94219	2.687000	0.91594	0.563000	0.77884	.	-	FRAS1	-	-		0.493	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	0	0		43	43		0.00		G		Intron	79350248	+1	15		37		tier1	no_errors	ENST00000264895	ensembl	human	known	74_37	splice_site	28.85		SNP	1.000	C	15	37
SYNE1	23345	genome.wustl.edu	37	6	152522994	152522994	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:152522994G>T	ENST00000367255.5	-	127	23711	c.23110C>A	c.(23110-23112)Cat>Aat	p.H7704N	SYNE1_ENST00000448038.1_Missense_Mutation_p.H7633N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7316N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H7633N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H7704N|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2228N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7704					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCTTCATGGTGATCCGGG	0.463										HNSCC(10;0.0054)			ENSG00000131018																																					0													116.0	120.0	119.0					6																	152522994		2203	4300	6503	SO:0001583	missense	0			-	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23110C>A	6.37:g.152522994G>T	ENSP00000356224:p.His7704Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H7704N	ENST00000367255.5	37	c.23110	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674971	0.47781	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.08	6.08	0.98989	.	0.091701	0.47852	D	0.000215	T	0.39384	0.1076	M	0.85197	2.74	0.53005	D	0.999967	P;P;P;P	0.42248	0.528;0.528;0.774;0.665	B;B;B;B	0.40602	0.18;0.18;0.334;0.18	T	0.38972	-0.9636	10	0.34782	T	0.22	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	7704;7704;7633;7633	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	N	7704;350;7633;7704;7633;7316;2228;626	ENSP00000356224:H7704N;ENSP00000356226:H350N;ENSP00000396024:H7633N;ENSP00000265368:H7704N;ENSP00000390975:H7633N;ENSP00000341887:H7316N;ENSP00000349276:H2228N;ENSP00000356220:H626N	ENSP00000265368:H7704N	H	-	1	0	SYNE1	152564687	1.000000	0.71417	0.959000	0.39883	0.331000	0.28603	6.614000	0.74197	2.894000	0.99253	0.591000	0.81541	CAT	-	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	0	0		46	46		0.00		G	NM_182961		152522994	-1	6		66		tier1	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	8.22		SNP	1.000	T	6	66
MIR380	494329	genome.wustl.edu	37	14	101491981	101491981	+	RNA	SNP	C	C	T	rs554417979		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:101491981C>T	ENST00000362112.2	-	0	0				MIR329-1_ENST00000385028.1_RNA|MIR411_ENST00000362239.2_RNA|MIR1197_ENST00000408818.1_RNA|MIR299_ENST00000385016.2_RNA|MIR329-2_ENST00000385029.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR758_ENST00000390227.1_RNA	NR_029872.1				microRNA 380																		TACTTCTTCTCAATATCACAT	0.507													ENSG00000221745	C|||	1	0.000199681	0.0008	0.0	5008	,	,		21605	0.0		0.0	False		,,,				2504	0.0																0													212.0	188.0	195.0					14																	101491981		1568	3582	5150			0			-			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101491981C>T				R	SNP	-	NULL	ENST00000362112.2	37	NULL		14																																																																																			-	MIR1197	-	-		0.507	MIR380-201	KNOWN	basic	miRNA	MIR1197	HGNC	miRNA		0	0		140	140		0.00		C	NR_029872		101491981	+1	59		93		tier1	no_errors	ENST00000408818	ensembl	human	known	74_37	rna	38.82		SNP	1.000	T	59	93
PPP2R1B	5519	genome.wustl.edu	37	11	111639566	111639567	+	5'Flank	INS	-	-	GTGTGTGT	rs657274|rs370676473|rs548783041|rs57771809|rs113688304|rs372397871	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:111639566_111639567insGTGTGTGT	ENST00000527614.1	-	0	0				PPP2R1B_ENST00000426998.2_5'Flank|PPP2R1B_ENST00000393055.2_5'Flank|RP11-108O10.2_ENST00000529841.1_lincRNA|PPP2R1B_ENST00000427203.2_5'Flank|PPP2R1B_ENST00000341980.6_5'Flank|PPP2R1B_ENST00000311129.5_5'Flank	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta						apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		tgtgtgtgtgcgtgtgtgtgtg	0.485													ENSG00000254990																																					0																																										SO:0001631	upstream_gene_variant	0				AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741		11.37:g.111639567_111639574dupGTGTGTGT	Exception_encountered		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	R	INS	-	NULL	ENST00000527614.1	37	NULL	CCDS8349.1	11																																																																																				RP11-108O10.2	-	-		0.485	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000254990	Clone_based_vega_gene	protein_coding	OTTHUMT00000391298.1									-	NM_002716		111639567	-1					tier1	no_errors	ENST00000529841	ensembl	human	known	74_37	rna			INS	0.013:0.014	GTGTGTGT		
DUSP27	92235	genome.wustl.edu	37	1	167096341	167096341	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096341C>G	ENST00000361200.2	+	6	2139	c.1973C>G	c.(1972-1974)cCc>cGc	p.P658R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P658R|DUSP27_ENST00000443333.1_Missense_Mutation_p.P658R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	658					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGAGCATTCCCCTGTCTGCG	0.652													ENSG00000198842																																					0													45.0	41.0	43.0					1																	167096341		2203	4300	6503	SO:0001583	missense	0			-	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1973C>G	1.37:g.167096341C>G	ENSP00000354483:p.Pro658Arg		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.P658R	ENST00000361200.2	37	c.1973	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977203	0.34848	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.15256	2.44;2.44;2.44	5.1	3.21	0.36854	.	0.427328	0.20047	N	0.100385	T	0.27027	0.0662	M	0.71581	2.175	0.48830	D	0.999713	D	0.89917	1.0	D	0.87578	0.998	T	0.03344	-1.1046	10	0.87932	D	0	-11.6544	10.6082	0.45406	0.0:0.7945:0.133:0.0725	.	658	Q5VZP5	DUS27_HUMAN	R	658	ENSP00000354483:P658R;ENSP00000271385:P658R;ENSP00000404874:P658R	ENSP00000271385:P658R	P	+	2	0	DUSP27	165362965	1.000000	0.71417	0.989000	0.46669	0.155000	0.21991	5.687000	0.68219	0.536000	0.28733	-0.179000	0.13096	CCC	-	DUSP27	-	NULL		0.652	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	0	0		20	20		0.00		C	NM_001080426		167096341	+1	19		107		tier1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	14.96		SNP	1.000	G	19	107
ADAM17	6868	genome.wustl.edu	37	2	9630591	9630591	+	Silent	SNP	A	A	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:9630591A>G	ENST00000310823.3	-	19	2372	c.2190T>C	c.(2188-2190)ttT>ttC	p.F730F	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	730					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGGCGCAGGAAAGGGTTTGA	0.532													ENSG00000151694																																					0													67.0	62.0	64.0					2																	9630591		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.2190T>C	2.37:g.9630591A>G			O60226	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F730	ENST00000310823.3	37	c.2190	CCDS1665.1	2																																																																																			-	ADAM17	-	NULL		0.532	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	0	0		39	39		0.00		A			9630591	-1	5		33		tier1	no_errors	ENST00000310823	ensembl	human	known	74_37	silent	13.16		SNP	0.924	G	5	33
DUSP27	92235	genome.wustl.edu	37	1	167096495	167096495	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096495C>A	ENST00000361200.2	+	6	2293	c.2127C>A	c.(2125-2127)aaC>aaA	p.N709K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N709K|DUSP27_ENST00000443333.1_Missense_Mutation_p.N709K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	709					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCCTGCCTAACCTGCCAGTGG	0.557													ENSG00000198842																																					0													61.0	63.0	62.0					1																	167096495		2203	4300	6503	SO:0001583	missense	0			-	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2127C>A	1.37:g.167096495C>A	ENSP00000354483:p.Asn709Lys		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.N709K	ENST00000361200.2	37	c.2127	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892175	0.33442	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03580	3.88;3.88;3.88	4.68	4.68	0.58851	.	2.232180	0.01612	N	0.022560	T	0.02156	0.0067	L	0.56769	1.78	0.28750	N	0.901481	B	0.32245	0.361	B	0.28139	0.086	T	0.35624	-0.9781	10	0.66056	D	0.02	-23.2929	5.5369	0.17016	0.0:0.7611:0.0:0.2389	.	709	Q5VZP5	DUS27_HUMAN	K	709	ENSP00000354483:N709K;ENSP00000271385:N709K;ENSP00000404874:N709K	ENSP00000271385:N709K	N	+	3	2	DUSP27	165363119	0.131000	0.22433	0.970000	0.41538	0.986000	0.74619	0.420000	0.21263	2.418000	0.82041	0.643000	0.83706	AAC	-	DUSP27	-	NULL		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	0	0		19	19		0.00		C	NM_001080426		167096495	+1	37		207		tier1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	15.16		SNP	0.995	A	37	207
CCDC175	729665	genome.wustl.edu	37	14	59977465	59977465	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:59977465C>T	ENST00000537690.2	-	19	2259	c.2204G>A	c.(2203-2205)cGt>cAt	p.R735H	CCDC175_ENST00000281581.4_Missense_Mutation_p.R735H|RP11-701B16.2_ENST00000554253.1_RNA	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	735																	ATCTCTTTCACGCAGCTTGTC	0.423													ENSG00000151838																																					0													361.0	264.0	293.0					14																	59977465		692	1591	2283	SO:0001583	missense	0			-		CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.2204G>A	14.37:g.59977465C>T	ENSP00000453940:p.Arg735His		G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.R735H	ENST00000537690.2	37	c.2204	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	5.707	0.314983	0.10789	.	.	ENSG00000151838	ENST00000555041	.	.	.	4.75	-7.7	0.01259	.	3.053280	0.00741	N	0.001016	T	0.27063	0.0663	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.22800	-1.0206	7	0.39692	T	0.17	15.621	10.5708	0.45198	0.0:0.7167:0.1159:0.1675	.	.	.	.	H	735	.	ENSP00000281581:R735H	R	-	2	0	C14orf38	59047218	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.405000	0.02492	-1.785000	0.01271	-0.136000	0.14681	CGT	-	CCDC175	-	NULL		0.423	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1	0	0		67	67		0.00		C	NM_001164399		59977465	-1	28		14		tier1	no_errors	ENST00000281581	ensembl	human	known	74_37	missense	66.67		SNP	0.000	T	28	14
PPOX	5498	genome.wustl.edu	37	1	161140426	161140426	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:161140426C>G	ENST00000367999.4	+	11	1381	c.1115C>G	c.(1114-1116)tCc>tGc	p.S372C	PPOX_ENST00000535223.1_Missense_Mutation_p.S35C|PPOX_ENST00000432542.2_Missense_Mutation_p.S117C|PPOX_ENST00000544598.1_Missense_Mutation_p.S80C|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.S372C|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	372					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CTGGGAGGTTCCTGGTTACAG	0.527													ENSG00000143224																																					0													114.0	118.0	117.0					1																	161140426		2203	4300	6503	SO:0001583	missense	0			-	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1115C>G	1.37:g.161140426C>G	ENSP00000356978:p.Ser372Cys		D3DVG0|Q5VTW8	Missense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.S372C	ENST00000367999.4	37	c.1115	CCDS1221.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.62|16.62	3.173987|3.173987	0.57692|0.57692	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000537523;ENST00000537829|ENST00000352210;ENST00000367999;ENST00000544598;ENST00000435935;ENST00000535223;ENST00000432542	.|D;D;D;D;D	.|0.98345	.|-3.02;-3.02;-4.88;-3.82;-3.41	5.94|5.94	5.01|5.01	0.66863|0.66863	.|Amine oxidase (1);	.|0.107337	.|0.64402	.|D	.|0.000006	D|D	0.97579|0.97579	0.9207|0.9207	L|L	0.57536|0.57536	1.79|1.79	0.28982|0.28982	N|N	0.888571|0.888571	.|D;D;D;D;D;P	.|0.67145	.|0.996;0.976;0.978;0.983;0.985;0.91	.|P;P;B;P;P;P	.|0.62649	.|0.905;0.762;0.361;0.494;0.699;0.592	D|D	0.95056|0.95056	0.8191|0.8191	5|10	.|0.39692	.|T	.|0.17	-0.8458|-0.8458	13.8705|13.8705	0.63615|0.63615	0.1587:0.8413:0.0:0.0|0.1587:0.8413:0.0:0.0	.|.	.|117;339;80;43;210;372	.|B4DQQ7;B4DY76;F5GZT7;Q96SE3;B3KT30;P50336	.|.;.;.;.;.;PPOX_HUMAN	A|C	125;95|372;372;80;339;35;117	.|ENSP00000343943:S372C;ENSP00000356978:S372C;ENSP00000444216:S80C;ENSP00000443769:S35C;ENSP00000396841:S117C	.|ENSP00000343943:S372C	P|S	+|+	1|2	0|0	PPOX|PPOX	159407050|159407050	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.919000|0.919000	0.55068|0.55068	4.031000|4.031000	0.57267|0.57267	1.460000|1.460000	0.47911|0.47911	0.650000|0.650000	0.86243|0.86243	CCT|TCC	-	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase		0.527	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	0	0		84	84		0.00		C	NM_000309		161140426	+1	102		421		tier1	no_errors	ENST00000352210	ensembl	human	known	74_37	missense	19.47		SNP	0.999	G	102	421
UBASH3A	53347	genome.wustl.edu	37	21	43833596	43833596	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr21:43833596A>G	ENST00000319294.6	+	5	662	c.631A>G	c.(631-633)Aga>Gga	p.R211G	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Intron	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	211					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAATTTAACTAGAGCCTCCTT	0.517													ENSG00000160185																																					0													47.0	45.0	46.0					21																	43833596		2203	4300	6503	SO:0001583	missense	0			-	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.631A>G	21.37:g.43833596A>G	ENSP00000317327:p.Arg211Gly		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.R211G	ENST00000319294.6	37	c.631	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	A	8.535	0.871940	0.17322	.	.	ENSG00000160185	ENST00000319294	T	0.22134	1.97	2.64	-1.29	0.09288	.	30.136900	0.00166	N	0.000007	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15607	-1.0431	10	0.14656	T	0.56	.	2.9703	0.05920	0.4287:0.2465:0.3248:0.0	.	211	P57075	UBS3A_HUMAN	G	211	ENSP00000317327:R211G	ENSP00000317327:R211G	R	+	1	2	UBASH3A	42706665	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.280000	0.08468	-0.277000	0.09193	0.533000	0.62120	AGA	-	UBASH3A	-	NULL		0.517	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	HGNC	protein_coding	OTTHUMT00000195382.1	0	0		58	58		0.00		A	NM_001001895		43833596	+1	16		45		tier1	no_errors	ENST00000319294	ensembl	human	known	74_37	missense	26.23		SNP	0.000	G	16	45
CCR3	1232	genome.wustl.edu	37	3	46307606	46307606	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:46307606C>G	ENST00000357422.2	+	4	1500	c.957C>G	c.(955-957)caC>caG	p.H319Q	CCR3_ENST00000395940.2_Missense_Mutation_p.H319Q|CCR3_ENST00000395942.2_Missense_Mutation_p.H319Q|CCR3_ENST00000541018.1_Missense_Mutation_p.H319Q|CCR3_ENST00000545097.1_Missense_Mutation_p.H340Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	319					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TCCACAGGCACTTGCTCATGC	0.547													ENSG00000183625																																					0													97.0	83.0	88.0					3																	46307606		2203	4300	6503	SO:0001583	missense	0			-	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.957C>G	3.37:g.46307606C>G	ENSP00000350003:p.His319Gln		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.H340Q	ENST00000357422.2	37	c.1020	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	C	6.178	0.400998	0.11696	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.26	-7.65	0.01281	.	3.503140	0.01015	N	0.003888	T	0.37732	0.1014	M	0.64404	1.975	0.09310	N	1	B;B	0.24186	0.099;0.022	B;B	0.28011	0.085;0.039	T	0.42515	-0.9447	10	0.52906	T	0.07	.	12.7046	0.57054	0.0:0.2503:0.0838:0.6659	.	340;319	F5GWL6;P51677	.;CCR3_HUMAN	Q	319;340;319;319;319	ENSP00000350003:H319Q;ENSP00000441600:H340Q;ENSP00000440097:H319Q;ENSP00000379271:H319Q;ENSP00000379273:H319Q	ENSP00000350003:H319Q	H	+	3	2	CCR3	46282610	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.886000	0.00712	-1.644000	0.01517	-0.215000	0.12644	CAC	-	CCR3	-	prints_Chemokine_CCR1		0.547	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2	0	0		35	35		0.00		C			46307606	+1	10		30		tier1	no_errors	ENST00000545097	ensembl	human	known	74_37	missense	25.00		SNP	0.001	G	10	30
KRTAP12-2	353323	genome.wustl.edu	37	21	46086450	46086450	+	Silent	SNP	C	C	T	rs375784538	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr21:46086450C>T	ENST00000360770.3	-	1	394	c.354G>A	c.(352-354)ccG>ccA	p.P118P	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	118	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						ACTGGCAGGACGGAGCCGCAT	0.627													ENSG00000221864	C|||	10	0.00199681	0.0	0.0	5008	,	,		18784	0.0		0.0	False		,,,				2504	0.0102																0								C	,	0,4316		0,0,2158	50.0	60.0	56.0		,354	1.7	0.2	21		56	1,8501		0,1,4250	no	intron,coding-synonymous	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,	0,1,6408	TT,TC,CC		0.0118,0.0,0.0078	,	,118/147	46086450	1,12817	2158	4251	6409	SO:0001819	synonymous_variant	0			-	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.354G>A	21.37:g.46086450C>T			A6NIS1|A6NMS9|Q0VAS4	Silent	SNP	pfam_KRTAP_PMG	p.P118	ENST00000360770.3	37	c.354	CCDS42965.1	21																																																																																			-	KRTAP12-2	-	pfam_KRTAP_PMG		0.627	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	HGNC	protein_coding	OTTHUMT00000128039.1	0	0		51	51		0.00		C	NM_181684		46086450	-1	12		32		tier1	no_errors	ENST00000360770	ensembl	human	known	74_37	silent	27.27		SNP	0.042	T	12	32
ATRX	546	genome.wustl.edu	37	X	76939918	76939919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:76939918_76939919insC	ENST00000373344.5	-	9	1043_1044	c.829_830insG	c.(829-831)gtcfs	p.V277fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V239fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	277	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATGCAGTGACCAAGTCCAAC	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						ENSG00000085224																												Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	0				U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.830dupG	X.37:g.76939920_76939920dupC	ENSP00000362441:p.Val277fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V277fs	ENST00000373344.5	37	c.830_829	CCDS14434.1	X																																																																																				ATRX	-	superfamily_Znf_FYVE_PHD		0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	0	0		44	44		0.00		-	NM_000489		76939919	-1	18		18		tier1	no_errors	ENST00000373344	ensembl	human	known	74_37	frame_shift_ins	50.00		INS	1.000:1.000	C	18	18
TUBG1	7283	genome.wustl.edu	37	17	40764110	40764110	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:40764110G>C	ENST00000251413.3	+	4	410	c.348G>C	c.(346-348)gaG>gaC	p.E116D	FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	116					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	AGATCCATGAGGACATTTTTG	0.522													ENSG00000131462																									Colon(20;114 698 11420 22864)												0													103.0	92.0	95.0					17																	40764110		2203	4300	6503	SO:0001583	missense	0			-	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.348G>C	17.37:g.40764110G>C	ENSP00000251413:p.Glu116Asp		Q53X79|Q9BW59	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.E116D	ENST00000251413.3	37	c.348	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090485	0.07053	.	.	ENSG00000131462	ENST00000251413	T	0.69561	-0.41	5.37	-0.877	0.10621	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000001	T	0.43875	0.1267	N	0.12920	0.275	0.58432	D	0.999993	B	0.13145	0.007	B	0.13407	0.009	T	0.12941	-1.0528	10	0.40728	T	0.16	-11.1095	9.7249	0.40326	0.6134:0.0:0.3866:0.0	.	116	P23258	TBG1_HUMAN	D	116	ENSP00000251413:E116D	ENSP00000251413:E116D	E	+	3	2	TUBG1	38017636	1.000000	0.71417	0.977000	0.42913	0.064000	0.16182	1.362000	0.34148	-0.004000	0.14419	-0.373000	0.07131	GAG	-	TUBG1	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Gamma_tubulin,prints_Tubulin,prints_Beta_tubulin		0.522	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	0	0		59	59		0.00		G	NM_001070		40764110	+1	8		49		tier1	no_errors	ENST00000251413	ensembl	human	known	74_37	missense	14.04		SNP	0.993	C	8	49
C3orf79	152118	genome.wustl.edu	37	3	153203844	153203844	+	Missense_Mutation	SNP	A	A	G	rs200484423		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:153203844A>G	ENST00000446603.2	+	2	235	c.173A>G	c.(172-174)cAc>cGc	p.H58R	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	58										endometrium(1)|large_intestine(3)	4						ttatatgggcaccctgccact	0.373													ENSG00000237787																																					0													48.0	45.0	46.0					3																	153203844		1811	4073	5884	SO:0001583	missense	0			-	AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.173A>G	3.37:g.153203844A>G	ENSP00000389475:p.His58Arg			Missense_Mutation	SNP	NULL	p.H58R	ENST00000446603.2	37	c.173	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	A	5.704	0.314492	0.10789	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.12	0.864	0.19068	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.34264	0.446	B	0.33890	0.172	T	0.18429	-1.0337	8	0.87932	D	0	.	4.1674	0.10313	0.6904:0.0:0.0:0.3096	.	58	P0CE67	CC079_HUMAN	R	58	.	ENSP00000389475:H58R	H	+	2	0	C3orf79	154686534	0.004000	0.15560	0.001000	0.08648	0.082000	0.17680	0.073000	0.14640	0.241000	0.21283	0.397000	0.26171	CAC	-	C3orf79	-	NULL		0.373	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	HGNC	protein_coding	OTTHUMT00000356570.1	0	0		34	34		0.00		A	NM_001101337		153203844	+1	11		26		tier1	no_errors	ENST00000446603	ensembl	human	known	74_37	missense	27.50		SNP	0.001	G	11	26
CHRNB1	1140	genome.wustl.edu	37	17	7360003	7360003	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:7360003C>T	ENST00000306071.2	+	11	1534	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	CHRNB1_ENST00000575379.1_Silent_p.D25D|CHRNB1_ENST00000536404.2_Silent_p.D417D|CHRNB1_ENST00000576360.1_Silent_p.D368D	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	489					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	TCTTCCTGGACGCCACGTACC	0.562													ENSG00000170175																																					0													161.0	123.0	135.0					17																	7360003		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1467C>T	17.37:g.7360003C>T			B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D489	ENST00000306071.2	37	c.1467	CCDS11106.1	17																																																																																			-	CHRNB1	-	superfamily_Neurotrans-gated_channel_TM		0.562	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	0	0		106	106		0.00		C			7360003	+1	24		121		tier1	no_errors	ENST00000306071	ensembl	human	known	74_37	silent	16.55		SNP	0.607	T	24	121
SYNE1	23345	genome.wustl.edu	37	6	152485349	152485349	+	Silent	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:152485349G>C	ENST00000367255.5	-	131	24340	c.23739C>G	c.(23737-23739)gtC>gtG	p.V7913V	SYNE1_ENST00000539504.1_Silent_p.V68V|SYNE1_ENST00000448038.1_Silent_p.V7842V|SYNE1_ENST00000341594.5_Silent_p.V7525V|SYNE1_ENST00000423061.1_Silent_p.V7842V|SYNE1_ENST00000265368.4_Silent_p.V7913V|SYNE1_ENST00000356820.4_Silent_p.V2437V|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.V68V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7913					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGAATCGTAGACTATTGGCT	0.468										HNSCC(10;0.0054)			ENSG00000131018																																					0													127.0	116.0	120.0					6																	152485349		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23739C>G	6.37:g.152485349G>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V7913	ENST00000367255.5	37	c.23739	CCDS5236.2	6																																																																																			-	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	0	0		66	66		0.00		G	NM_182961		152485349	-1	21		71		tier1	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	22.83		SNP	1.000	C	21	71
KIAA2013	90231	genome.wustl.edu	37	1	11983047	11983047	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11983047C>T	ENST00000376572.3	-	2	1718	c.1533G>A	c.(1531-1533)gtG>gtA	p.V511V	KIAA2013_ENST00000376576.3_Silent_p.V511V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	511						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACGGGACTCCACGGACACGT	0.622													ENSG00000116685																																					0													35.0	34.0	35.0					1																	11983047		2202	4298	6500	SO:0001819	synonymous_variant	0			-	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1533G>A	1.37:g.11983047C>T			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	pfam_DUF2152	p.V511	ENST00000376572.3	37	c.1533	CCDS141.1	1																																																																																			-	KIAA2013	-	pfam_DUF2152		0.622	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	0	0		50	50		0.00		C	NM_138346		11983047	-1	10		52		tier1	no_errors	ENST00000376576	ensembl	human	known	74_37	silent	16.13		SNP	1.000	T	10	52
ERLIN2	11160	genome.wustl.edu	37	8	37593892	37593892	+	5'Flank	SNP	T	T	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:37593892T>C	ENST00000276461.5	+	0	0				RP11-863K10.7_ENST00000330539.1_Missense_Mutation_p.S42G|ERLIN2_ENST00000518586.1_5'Flank|ERLIN2_ENST00000397228.2_5'Flank|ERLIN2_ENST00000523887.1_5'Flank|ERLIN2_ENST00000335171.6_5'Flank|ERLIN2_ENST00000519638.1_5'Flank|ERLIN2_ENST00000523107.1_5'Flank|RP11-863K10.2_ENST00000523507.1_RNA	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTCCTGCCGCTCGCTCTCGGG	0.647											OREG0018710	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000183154																																					0																																										SO:0001631	upstream_gene_variant	0			-	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005		8.37:g.37593892T>C	Exception_encountered	871	A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	NULL	p.S42G	ENST00000276461.5	37	c.124	CCDS6095.1	8	.	.	.	.	.	.	.	.	.	.	T	8.251	0.808916	0.16537	.	.	ENSG00000183154	ENST00000330539	T	0.54279	0.58	3.04	1.81	0.25067	.	.	.	.	.	T	0.42154	0.1190	.	.	.	.	.	.	P	0.42584	0.784	B	0.40825	0.341	T	0.49532	-0.8930	7	0.52906	T	0.07	.	6.0888	0.19983	0.0:0.0:0.2654:0.7346	.	42	B7WP66	.	G	42	ENSP00000328874:S42G	ENSP00000328874:S42G	S	-	1	0	RP11-863K10.7	37713050	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	-0.184000	0.09698	0.363000	0.24346	0.402000	0.26972	AGC	-	RP11-863K10.7	-	NULL		0.647	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000183154	Clone_based_vega_gene	protein_coding	OTTHUMT00000376712.2	0	0		53	53		0.00		T	NM_007175		37593892	-1	12		44		tier1	no_errors	ENST00000330539	ensembl	human	putative	74_37	missense	21.43		SNP	0.010	C	12	44
FBXW10	10517	genome.wustl.edu	37	17	18653126	18653126	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:18653126C>T	ENST00000395665.4	+	3	983	c.762C>T	c.(760-762)ccC>ccT	p.P254P	FBXW10_ENST00000308799.4_Silent_p.P254P|FBXW10_ENST00000395667.1_Silent_p.P254P|FBXW10_ENST00000301938.4_Silent_p.P254P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	254										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTACGATCCCTGCAATCTAT	0.478													ENSG00000171931																																					0													171.0	133.0	146.0					17																	18653126		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.762C>T	17.37:g.18653126C>T			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P254	ENST00000395665.4	37	c.762	CCDS11199.3	17																																																																																			-	FBXW10	-	NULL		0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	0	0		68	68		0.00		C	NM_031456		18653126	+1	20		92		tier1	no_errors	ENST00000308799	ensembl	human	known	74_37	silent	17.86		SNP	0.010	T	20	92
ST18	9705	genome.wustl.edu	37	8	53084940	53084940	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:53084940T>A	ENST00000276480.7	-	10	1164	c.481A>T	c.(481-483)Agc>Tgc	p.S161C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	161					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTTCATCGCTCTCTGCTTTT	0.393													ENSG00000147488																																					0													110.0	102.0	104.0					8																	53084940		2203	4300	6503	SO:0001583	missense	0			-	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.481A>T	8.37:g.53084940T>A	ENSP00000276480:p.Ser161Cys		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S161C	ENST00000276480.7	37	c.481	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761216	0.31137	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.49720	0.78;0.77	5.63	1.89	0.25635	.	0.645425	0.17677	N	0.165780	T	0.35970	0.0950	L	0.47716	1.5	0.27953	N	0.937066	B	0.09022	0.002	B	0.08055	0.003	T	0.25117	-1.0141	10	0.45353	T	0.12	-1.2294	5.6484	0.17602	0.1257:0.1431:0.0:0.7311	.	161	O60284	ST18_HUMAN	C	161	ENSP00000276480:S161C;ENSP00000428521:S161C	ENSP00000276480:S161C	S	-	1	0	ST18	53247493	0.958000	0.32768	0.480000	0.27341	0.575000	0.36095	1.689000	0.37700	0.076000	0.16826	0.533000	0.62120	AGC	-	ST18	-	NULL		0.393	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	0	0		61	61		0.00		T			53084940	-1	21		71		tier1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	22.83		SNP	0.730	A	21	71
TGIF2LX	90316	genome.wustl.edu	37	X	89177282	89177282	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:89177282C>T	ENST00000561129.2	+	1	328	c.198C>T	c.(196-198)cgC>cgT	p.R66R	TGIF2LX_ENST00000283891.5_Silent_p.R66R			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGATCCTCCGCGACTGGATGT	0.463													ENSG00000153779																																					0													43.0	39.0	40.0					X																	89177282		2201	4279	6480	SO:0001819	synonymous_variant	0			-	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.198C>T	X.37:g.89177282C>T			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R66	ENST00000561129.2	37	c.198	CCDS14459.1	X																																																																																			-	TGIF2LX	-	pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.463	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	0	0		17	17		0.00		C	NM_138960		89177282	+1	8		3		tier1	no_errors	ENST00000283891	ensembl	human	known	74_37	silent	72.73		SNP	0.005	T	8	3
LUC7L	55692	genome.wustl.edu	37	16	258115	258115	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr16:258115C>T	ENST00000293872.8	-	4	438	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LUC7L_ENST00000337351.4_Missense_Mutation_p.E110K|LUC7L_ENST00000397783.1_Missense_Mutation_p.E110K|LUC7L_ENST00000494366.1_5'Flank|LUC7L_ENST00000397780.1_Missense_Mutation_p.E57K	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	110					mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				TCCTGTGTTTCTGCCAGCCGC	0.478													ENSG00000007392																																					0													136.0	122.0	127.0					16																	258115		2203	4300	6503	SO:0001583	missense	0			-	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.328G>A	16.37:g.258115C>T	ENSP00000293872:p.Glu110Lys		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_Luc7-rel	p.E110K	ENST00000293872.8	37	c.328	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.647710	0.96714	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000397780;ENST00000430864;ENST00000443357	T	0.05382	3.45	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.16854	0.0405	L	0.37507	1.11	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.01156	-1.1434	10	0.40728	T	0.16	.	17.4167	0.87503	0.0:1.0:0.0:0.0	.	110	Q9NQ29	LUC7L_HUMAN	K	110;110;110;57;24;24	ENSP00000380882:E57K	ENSP00000293872:E110K	E	-	1	0	LUC7L	198116	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.546000	0.82137	2.654000	0.90174	0.563000	0.77884	GAA	-	LUC7L	-	pfam_Luc7-rel		0.478	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1	0	0		54	54		0.00		C			258115	-1	15		31		tier1	no_errors	ENST00000293872	ensembl	human	known	74_37	missense	32.61		SNP	1.000	T	15	31
DUSP27	92235	genome.wustl.edu	37	1	167096970	167096970	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096970C>G	ENST00000361200.2	+	6	2768	c.2602C>G	c.(2602-2604)Ctc>Gtc	p.L868V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.L868V|DUSP27_ENST00000443333.1_Missense_Mutation_p.L868V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	868					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ACGCAGCTCCCTCTTCAAGAA	0.507													ENSG00000198842																																					0													78.0	65.0	70.0					1																	167096970		2203	4300	6503	SO:0001583	missense	0			-	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2602C>G	1.37:g.167096970C>G	ENSP00000354483:p.Leu868Val		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.L868V	ENST00000361200.2	37	c.2602	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848805	0.51164	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05855	3.38;3.38;3.38	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000011	T	0.09905	0.0243	M	0.67953	2.075	0.37061	D	0.898052	D	0.62365	0.991	P	0.58210	0.835	T	0.00915	-1.1516	10	0.87932	D	0	-11.3903	8.1053	0.30881	0.0:0.7351:0.1439:0.121	.	868	Q5VZP5	DUS27_HUMAN	V	868	ENSP00000354483:L868V;ENSP00000271385:L868V;ENSP00000404874:L868V	ENSP00000271385:L868V	L	+	1	0	DUSP27	165363594	0.990000	0.36364	0.998000	0.56505	0.917000	0.54804	2.223000	0.42936	2.605000	0.88082	0.643000	0.83706	CTC	-	DUSP27	-	NULL		0.507	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	0	0		36	36		0.00		C	NM_001080426		167096970	+1	21		164		tier1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	11.29		SNP	0.994	G	21	164
RELN	5649	genome.wustl.edu	37	7	103276804	103276804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:103276804G>T	ENST00000428762.1	-	18	2340	c.2181C>A	c.(2179-2181)taC>taA	p.Y727*	RELN_ENST00000424685.2_Nonsense_Mutation_p.Y727*|RELN_ENST00000343529.5_Nonsense_Mutation_p.Y727*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACGGATAGAGTAAAAGTTAT	0.473													ENSG00000189056																									NSCLC(146;835 1944 15585 22231 52158)												0													70.0	68.0	69.0					7																	103276804		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2181C>A	7.37:g.103276804G>T	ENSP00000392423:p.Tyr727*		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.Y727*	ENST00000428762.1	37	c.2181	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	41	9.016605	0.99037	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.76	5.76	0.90799	.	0.062821	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	.	.	.	X	727	.	ENSP00000345694:Y727X	Y	-	3	2	RELN	103064040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.213000	0.58520	2.721000	0.93114	0.591000	0.81541	TAC	-	RELN	-	superfamily_Sialidases		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	0	0		33	33		0.00		G	NM_005045		103276804	-1	4		32		tier1	no_errors	ENST00000424685	ensembl	human	known	74_37	nonsense	11.11		SNP	1.000	T	4	32
EDC4	23644	genome.wustl.edu	37	16	67915420	67915420	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr16:67915420G>T	ENST00000358933.5	+	21	3049	c.2810G>T	c.(2809-2811)cGg>cTg	p.R937L	CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	937					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ATGGGATCCCGGCTCACAGAG	0.592													ENSG00000038358																																					0													56.0	54.0	55.0					16																	67915420		2198	4300	6498	SO:0001583	missense	0			-	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2810G>T	16.37:g.67915420G>T	ENSP00000351811:p.Arg937Leu		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R937L	ENST00000358933.5	37	c.2810	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485347	0.44147	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.35	4.39	0.52855	.	0.424564	0.26000	N	0.026952	T	0.29256	0.0728	N	0.24115	0.695	0.33569	D	0.598427	B	0.22851	0.076	B	0.17433	0.018	T	0.30357	-0.9981	9	0.27785	T	0.31	-24.3032	7.3647	0.26766	0.1658:0.0:0.8342:0.0	.	937	Q6P2E9	EDC4_HUMAN	L	937	.	ENSP00000351811:R937L	R	+	2	0	EDC4	66472921	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.248000	0.32827	2.526000	0.85167	0.460000	0.39030	CGG	-	EDC4	-	NULL		0.592	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	0	0		46	46		0.00		G	NM_014329		67915420	+1	13		51		tier1	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	20.31		SNP	1.000	T	13	51
KIF5A	3798	genome.wustl.edu	37	12	57969035	57969035	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:57969035T>C	ENST00000455537.2	+	16	2159	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	KIF5A_ENST00000286452.5_Missense_Mutation_p.C540R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	629					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GCTCTCATCCTGCCAGCTCCT	0.542													ENSG00000155980																																					0													41.0	40.0	40.0					12																	57969035		2203	4300	6503	SO:0001583	missense	0			-	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1885T>C	12.37:g.57969035T>C	ENSP00000408979:p.Cys629Arg		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C629R	ENST00000455537.2	37	c.1885	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938225	0.73557	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.82255	-1.59;-1.59	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.78049	2.395	0.80722	D	1	D;P	0.54601	0.967;0.956	P;P	0.59948	0.866;0.786	D	0.88977	0.3405	10	0.44086	T	0.13	.	13.2727	0.60170	0.0:0.0:0.0:1.0	.	540;629	B7Z2M7;Q12840	.;KIF5A_HUMAN	R	629;540	ENSP00000408979:C629R;ENSP00000286452:C540R	ENSP00000286452:C540R	C	+	1	0	KIF5A	56255302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.029000	0.70895	2.027000	0.59764	0.533000	0.62120	TGC	-	KIF5A	-	NULL		0.542	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	0	0		35	35		0.00		T	NM_004984		57969035	+1	10		13		tier1	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	43.48		SNP	1.000	C	10	13
UBB	7314	genome.wustl.edu	37	17	16285594	16285594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:16285594C>T	ENST00000395837.1	+	2	554	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Nonsense_Mutation_p.Q125*|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Nonsense_Mutation_p.Q125*	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	125	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TGCAGGCAAGCAGCTGGAAGA	0.542													ENSG00000170315																									Melanoma(163;1126 3406 34901)												0													87.0	87.0	87.0					17																	16285594		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.373C>T	17.37:g.16285594C>T	ENSP00000379178:p.Gln125*		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Nonsense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup	p.Q125*	ENST00000395837.1	37	c.373	CCDS11177.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.365626	0.98238	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	.	.	.	4.13	4.13	0.48395	.	0.000000	0.50627	U	0.000109	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8221	0.78662	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000304697:Q125X	Q	+	1	0	UBB	16226319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.949000	0.75971	2.043000	0.60533	0.644000	0.83932	CAG	-	UBB	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup		0.542	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	UBB	HGNC	protein_coding	OTTHUMT00000130459.1	0	0		63	63		0.00		C	NM_018955		16285594	+1	37		101		tier1	no_errors	ENST00000302182	ensembl	human	novel	74_37	nonsense	26.62		SNP	1.000	T	37	101
TECTA	7007	genome.wustl.edu	37	11	121028837	121028837	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:121028837C>A	ENST00000392793.1	+	14	4864	c.4593C>A	c.(4591-4593)ttC>ttA	p.F1531L	TECTA_ENST00000264037.2_Missense_Mutation_p.F1531L			O75443	TECTA_HUMAN	tectorin alpha	1531	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCATCAACTTCGACAAGTGGT	0.547													ENSG00000109927																																					0													101.0	83.0	89.0					11																	121028837		2203	4299	6502	SO:0001583	missense	0			-	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4593C>A	11.37:g.121028837C>A	ENSP00000376543:p.Phe1531Leu			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.F1531L	ENST00000392793.1	37	c.4593	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608471	0.66558	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58940	0.3;0.3	5.67	4.57	0.56435	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	L	0.58428	1.81	0.44595	D	0.99756	D	0.89917	1.0	D	0.83275	0.996	T	0.61594	-0.7031	10	0.16896	T	0.51	.	12.7795	0.57469	0.0:0.8548:0.0:0.1452	.	1531	O75443	TECTA_HUMAN	L	1531	ENSP00000376543:F1531L;ENSP00000264037:F1531L	ENSP00000264037:F1531L	F	+	3	2	TECTA	120534047	0.380000	0.25131	1.000000	0.80357	0.997000	0.91878	0.012000	0.13287	2.687000	0.91594	0.563000	0.77884	TTC	-	TECTA	-	pfam_VWF_type-D,smart_VWF_type-D		0.547	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	0	0		35	35		0.00		C	NM_005422		121028837	+1	11		23		tier1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	32.35		SNP	1.000	A	11	23
GPRC5C	55890	genome.wustl.edu	37	17	72435889	72435889	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:72435889C>G	ENST00000481232.1	+	2	620	c.109C>G	c.(109-111)Caa>Gaa	p.Q37E	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.Q4E|GPRC5C_ENST00000392627.1_Missense_Mutation_p.Q37E			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	0					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCTAGGGACCCAACCAGAGCC	0.567													ENSG00000170412																																					0													48.0	50.0	50.0					17																	72435889		2203	4300	6503	SO:0001583	missense	0			-	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.109C>G	17.37:g.72435889C>G	ENSP00000462147:p.Gln37Glu		B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.Q37E	ENST00000481232.1	37	c.109		17	.	.	.	.	.	.	.	.	.	.	C	2.612	-0.290605	0.05568	.	.	ENSG00000170412	ENST00000342648;ENST00000392629	T	0.16597	2.33	5.53	5.53	0.82687	.	1.182760	0.06085	N	0.662621	T	0.18215	0.0437	.	.	.	0.25593	N	0.986672	B	0.15473	0.013	B	0.19391	0.025	T	0.25012	-1.0144	9	0.33940	T	0.23	-5.4998	16.1722	0.81825	0.0:1.0:0.0:0.0	.	4	Q9NQ84-2	.	E	37;4	ENSP00000376405:Q4E	ENSP00000340595:Q37E	Q	+	1	0	GPRC5C	69947484	0.476000	0.25901	0.831000	0.32960	0.008000	0.06430	2.346000	0.44027	2.595000	0.87683	0.655000	0.94253	CAA	-	GPRC5C	-	NULL		0.567	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145095.2	0	0		66	66		0.00		C			72435889	+1	17		95		tier1	no_errors	ENST00000392627	ensembl	human	known	74_37	missense	15.18		SNP	0.976	G	17	95
NRP2	8828	genome.wustl.edu	37	2	206588626	206588626	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:206588626C>T	ENST00000357785.5	+	5	813	c.782C>T	c.(781-783)tCt>tTt	p.S261F	NRP2_ENST00000417189.1_Missense_Mutation_p.S261F|NRP2_ENST00000272849.3_Missense_Mutation_p.S261F|NRP2_ENST00000355117.4_Missense_Mutation_p.S261F|NRP2_ENST00000540178.1_Missense_Mutation_p.S261F|NRP2_ENST00000412873.2_Missense_Mutation_p.S261F|NRP2_ENST00000357118.4_Missense_Mutation_p.S261F|NRP2_ENST00000360409.3_Missense_Mutation_p.S261F|NRP2_ENST00000540841.1_Missense_Mutation_p.S261F			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GATGGCTTCTCTGCGCGTTAC	0.567													ENSG00000118257																																					0													83.0	74.0	77.0					2																	206588626		2203	4300	6503	SO:0001583	missense	0			-	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.782C>T	2.37:g.206588626C>T	ENSP00000350432:p.Ser261Phe		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.S261F	ENST00000357785.5	37	c.782	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489062	0.84962	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.22243	-1.0222	10	0.54805	T	0.06	-17.4185	20.428	0.99075	0.0:1.0:0.0:0.0	.	261;261;261;261;261;261	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	F	261	ENSP00000353582:S261F;ENSP00000439658:S261F;ENSP00000439261:S261F;ENSP00000347238:S261F;ENSP00000387519:S261F;ENSP00000349632:S261F;ENSP00000350432:S261F;ENSP00000407626:S261F;ENSP00000272849:S261F	ENSP00000272849:S261F	S	+	2	0	NRP2	206296871	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	TCT	-	NRP2	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.567	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	0	0		95	95		0.00		C			206588626	+1	13		60		tier1	no_errors	ENST00000360409	ensembl	human	known	74_37	missense	17.81		SNP	1.000	T	13	60
PLPPR2	64748	genome.wustl.edu	37	19	11475026	11475026	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:11475026C>T	ENST00000251473.5	+	10	1379	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.S315L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCACCAGAGTCGCAGAACTGC	0.632													ENSG00000105520																																					0													23.0	24.0	24.0					19																	11475026		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000251473.5:c.1003C>T	19.37:g.11475026C>T	ENSP00000251473:p.Arg335Cys			Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S315L	ENST00000251473.5	37	c.944	CCDS12258.1	19	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993077	0.54041	.	.	ENSG00000105520	ENST00000251473	T	0.35236	1.32	5.35	4.1	0.47936	.	1.530920	0.03745	N	0.255561	T	0.27454	0.0674	N	0.14661	0.345	0.24162	N	0.995657	B	0.10296	0.003	B	0.04013	0.001	T	0.07966	-1.0745	10	0.66056	D	0.02	-0.2514	9.8104	0.40820	0.0:0.8912:0.0:0.1088	.	335	Q96GM1	LPPR2_HUMAN	C	335	ENSP00000251473:R335C	ENSP00000251473:R335C	R	+	1	0	AC024575.1	11336026	0.998000	0.40836	1.000000	0.80357	0.793000	0.44817	1.496000	0.35638	2.511000	0.84671	0.467000	0.42956	CGC	-	DKFZP761J1410	-	NULL		0.632	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_gn	protein_coding	OTTHUMT00000458779.1	0	0		29	29		0.00		C			11475026	+1	6		41		tier1	no_errors	ENST00000591608	ensembl	human	known	74_37	missense	12.77		SNP	0.999	T	6	41
NRP2	8828	genome.wustl.edu	37	2	206588625	206588625	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:206588625T>A	ENST00000357785.5	+	5	812	c.781T>A	c.(781-783)Tct>Act	p.S261T	NRP2_ENST00000417189.1_Missense_Mutation_p.S261T|NRP2_ENST00000272849.3_Missense_Mutation_p.S261T|NRP2_ENST00000355117.4_Missense_Mutation_p.S261T|NRP2_ENST00000540178.1_Missense_Mutation_p.S261T|NRP2_ENST00000412873.2_Missense_Mutation_p.S261T|NRP2_ENST00000357118.4_Missense_Mutation_p.S261T|NRP2_ENST00000360409.3_Missense_Mutation_p.S261T|NRP2_ENST00000540841.1_Missense_Mutation_p.S261T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGATGGCTTCTCTGCGCGTTA	0.567													ENSG00000118257																																					0													82.0	73.0	76.0					2																	206588625		2203	4300	6503	SO:0001583	missense	0			-	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.781T>A	2.37:g.206588625T>A	ENSP00000350432:p.Ser261Thr		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.S261T	ENST00000357785.5	37	c.781	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	T	32	5.125687	0.94429	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.66560	2.04	0.80722	D	1	D;D;P;D;D;D	0.56968	0.973;0.973;0.886;0.973;0.973;0.978	D;D;D;D;D;D	0.85130	0.996;0.997;0.982;0.997;0.996;0.997	T	0.19778	-1.0295	10	0.59425	D	0.04	-17.4185	16.4504	0.83984	0.0:0.0:0.0:1.0	.	261;261;261;261;261;261	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	T	261	ENSP00000353582:S261T;ENSP00000439658:S261T;ENSP00000439261:S261T;ENSP00000347238:S261T;ENSP00000387519:S261T;ENSP00000349632:S261T;ENSP00000350432:S261T;ENSP00000407626:S261T;ENSP00000272849:S261T	ENSP00000272849:S261T	S	+	1	0	NRP2	206296870	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TCT	-	NRP2	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.567	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	0	0		95	95		0.00		T			206588625	+1	13		58		tier1	no_errors	ENST00000360409	ensembl	human	known	74_37	missense	18.31		SNP	1.000	A	13	58
KPTN	11133	genome.wustl.edu	37	19	47978546	47978546	+	3'UTR	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:47978546G>C	ENST00000338134.3	-	0	1545				KPTN_ENST00000536339.1_3'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)						actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		gggccccagggcacaGCTTCA	0.602													ENSG00000118162																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.*127C>G	19.37:g.47978546G>C			B3KN86|B4DQ76|Q96GT1	R	SNP	-	NULL	ENST00000338134.3	37	NULL	CCDS42583.1	19																																																																																			-	KPTN	-	-		0.602	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPTN	HGNC	protein_coding	OTTHUMT00000466672.2	0	0		34	34		0.00		G			47978546	-1	11		61		tier1	no_errors	ENST00000600551	ensembl	human	known	74_37	rna	15.28		SNP	0.003	C	11	61
TMEM63C	57156	genome.wustl.edu	37	14	77697934	77697934	+	Silent	SNP	C	C	T	rs201147786	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:77697934C>T	ENST00000298351.4	+	7	498	c.354C>T	c.(352-354)gaC>gaT	p.D118D		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	118					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTTCCAGGGACGAGGATCTGA	0.557													ENSG00000165548	C|||	7	0.00139776	0.0045	0.0014	5008	,	,		16891	0.0		0.0	False		,,,				2504	0.0																0								C		23,3939		0,23,1958	102.0	99.0	100.0		354	-6.0	0.0	14		100	0,7434		0,0,3717	no	coding-synonymous	TMEM63C	NM_020431.2		0,23,5675	TT,TC,CC		0.0,0.5805,0.2018		118/807	77697934	23,11373	1981	3717	5698	SO:0001819	synonymous_variant	0			GMAF=0		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.354C>T	14.37:g.77697934C>T			B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	pfam_DUF221	p.D118	ENST00000298351.4	37	c.354	CCDS45141.1	14																																																																																			rs201147786	TMEM63C	-	NULL		0.557	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	0	0		46	46		0.00		C			77697934	+1	9		38		tier1	no_errors	ENST00000298351	ensembl	human	known	74_37	silent	18.75		SNP	0.760	T	9	38
MAN1C1	57134	genome.wustl.edu	37	1	26098237	26098237	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:26098237A>G	ENST00000374332.4	+	8	1561	c.1231A>G	c.(1231-1233)Aaa>Gaa	p.K411E	MAN1C1_ENST00000263979.3_Missense_Mutation_p.K231E|MAN1C1_ENST00000374329.1_Missense_Mutation_p.K182E	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	411					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TATGGAGGCTAAAAATATGTA	0.517													ENSG00000117643																																					0													103.0	99.0	100.0					1																	26098237		2203	4300	6503	SO:0001583	missense	0			-	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1231A>G	1.37:g.26098237A>G	ENSP00000363452:p.Lys411Glu		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.K411E	ENST00000374332.4	37	c.1231	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.289324	0.59976	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.72282	-0.64;-0.64;-0.64	5.26	5.26	0.73747	.	0.099081	0.64402	D	0.000002	T	0.70011	0.3175	L	0.57130	1.785	0.41857	D	0.990205	B	0.30727	0.292	B	0.35859	0.212	T	0.69335	-0.5172	10	0.37606	T	0.19	.	15.462	0.75366	1.0:0.0:0.0:0.0	.	411	Q9NR34	MA1C1_HUMAN	E	411;231;231;182	ENSP00000363452:K411E;ENSP00000263979:K231E;ENSP00000363449:K182E	ENSP00000263979:K231E	K	+	1	0	MAN1C1	25970824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.192000	0.77771	2.122000	0.65172	0.482000	0.46254	AAA	-	MAN1C1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.517	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	0	0		39	39		0.00		A	NM_020379		26098237	+1	14		39		tier1	no_errors	ENST00000374332	ensembl	human	known	74_37	missense	26.42		SNP	0.994	G	14	39
ZNF286A	57335	genome.wustl.edu	37	17	15639142	15639142	+	Intron	SNP	G	G	A	rs199625653		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:15639142G>A	ENST00000413242.2	+	8	2132				TBC1D26_ENST00000437605.2_Intron|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000593105.1_Intron|TBC1D26_ENST00000579428.1_Intron|AC005324.6_ENST00000433873.1_RNA			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CTCTCCTGTCGGTCCAGCCTG	0.592													ENSG00000233002																																					0																																										SO:0001627	intron_variant	0			-	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000413242.2:c.1563+149G>A	17.37:g.15639142G>A			B4DKF9|Q96JF3	R	SNP	-	NULL	ENST00000413242.2	37	NULL	CCDS11172.1	17																																																																																			rs199625653	AC005324.6	-	-		0.592	ZNF286A-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	ENSG00000233002	Clone_based_vega_gene	protein_coding	OTTHUMT00000130697.4	0	0		9	9		0.00		G	NM_020652		15639142	-1	7		6		tier1	no_errors	ENST00000434017	ensembl	human	known	74_37	rna	53.85		SNP	0.004	A	7	6
PMPCB	9512	genome.wustl.edu	37	7	102949431	102949431	+	Silent	SNP	G	G	A	rs76757936		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:102949431G>A	ENST00000249269.4	+	8	920	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PMPCB_ENST00000428154.1_Silent_p.A294A|PMPCB_ENST00000420236.2_Silent_p.A189A	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCTTTGGCGCACCTTGCAA	0.428													ENSG00000105819	G|||	1	0.000199681	0.0	0.0	5008	,	,		17854	0.001		0.0	False		,,,				2504	0.0																0													158.0	133.0	142.0					7																	102949431		2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.882G>A	7.37:g.102949431G>A			O60416|Q96FV4	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A294	ENST00000249269.4	37	c.882	CCDS5730.1	7																																																																																			rs76757936	PMPCB	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16		0.428	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	HGNC	protein_coding	OTTHUMT00000347913.1	0	0		46	46		0.00		G	NM_004279		102949431	+1	23		48		tier1	no_errors	ENST00000249269	ensembl	human	known	74_37	silent	32.39		SNP	0.984	A	23	48
ADAM17	6868	genome.wustl.edu	37	2	9675993	9675993	+	Silent	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:9675993G>T	ENST00000310823.3	-	4	602	c.420C>A	c.(418-420)atC>atA	p.I140I	ADAM17_ENST00000497134.1_Silent_p.I140I	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	140					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CATCTGTGTTGATTCTGATTA	0.318													ENSG00000151694																																					0													56.0	58.0	57.0					2																	9675993		2202	4296	6498	SO:0001819	synonymous_variant	0			-	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.420C>A	2.37:g.9675993G>T			O60226	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.I140	ENST00000310823.3	37	c.420	CCDS1665.1	2																																																																																			-	ADAM17	-	pfam_Peptidase_M12B_N		0.318	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	0	0		75	75		0.00		G			9675993	-1	11		18		tier1	no_errors	ENST00000310823	ensembl	human	known	74_37	silent	37.93		SNP	1.000	T	11	18
PRTG	283659	genome.wustl.edu	37	15	55919246	55919246	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:55919246G>T	ENST00000389286.4	-	17	2934	c.2887C>A	c.(2887-2889)Ctc>Atc	p.L963I		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACACAGATGAGGATGCAGGTC	0.408													ENSG00000166450																																					0													123.0	120.0	121.0					15																	55919246		1940	4154	6094	SO:0001583	missense	0			-	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2887C>A	15.37:g.55919246G>T	ENSP00000373937:p.Leu963Ile			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L963I	ENST00000389286.4	37	c.2887	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270230	0.23221	.	.	ENSG00000166450	ENST00000389286	T	0.50813	0.73	5.02	4.1	0.47936	.	0.270973	0.36555	N	0.002538	T	0.38852	0.1056	L	0.39898	1.24	0.80722	D	1	B	0.14438	0.01	B	0.11329	0.006	T	0.10941	-1.0608	10	0.15066	T	0.55	-8.6235	15.5982	0.76602	0.0748:0.0:0.9252:0.0	.	963	Q2VWP7	PRTG_HUMAN	I	963	ENSP00000373937:L963I	ENSP00000373937:L963I	L	-	1	0	PRTG	53706538	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	5.273000	0.65564	0.540000	0.28808	-1.151000	0.01829	CTC	-	PRTG	-	NULL		0.408	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	0	0		70	70		0.00		G	NM_173814		55919246	-1	32		36		tier1	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	47.06		SNP	1.000	T	32	36
ZNF704	619279	genome.wustl.edu	37	8	81577130	81577130	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:81577130T>A	ENST00000327835.3	-	6	1078	c.847A>T	c.(847-849)Acg>Tcg	p.T283S	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	283							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TTAGTCTCCGTTTTGGCACAA	0.582													ENSG00000164684																																					0													145.0	128.0	133.0					8																	81577130		2203	4300	6503	SO:0001583	missense	0			-	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.847A>T	8.37:g.81577130T>A	ENSP00000331462:p.Thr283Ser		B2RNE6|B9EGW6	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.T283S	ENST00000327835.3	37	c.847	CCDS34913.1	8	.	.	.	.	.	.	.	.	.	.	T	9.360	1.067769	0.20067	.	.	ENSG00000164684	ENST00000327835	D	0.82711	-1.64	6.07	2.1	0.27182	.	0.406531	0.28247	N	0.016053	T	0.57504	0.2058	N	0.03608	-0.345	0.44611	D	0.997584	B	0.20052	0.041	B	0.16722	0.016	T	0.47749	-0.9093	10	0.07030	T	0.85	-14.442	8.7887	0.34837	0.1189:0.0:0.2488:0.6323	.	283	Q6ZNC4	ZN704_HUMAN	S	283	ENSP00000331462:T283S	ENSP00000331462:T283S	T	-	1	0	ZNF704	81739685	1.000000	0.71417	0.968000	0.41197	0.861000	0.49209	3.776000	0.55356	0.494000	0.27859	0.528000	0.53228	ACG	-	ZNF704	-	NULL		0.582	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2	0	0		100	100		0.00		T	NM_001033723		81577130	-1	18		114		tier1	no_errors	ENST00000327835	ensembl	human	known	74_37	missense	13.64		SNP	0.999	A	18	114
GRK5	2869	genome.wustl.edu	37	10	121086078	121086078	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:121086078A>C	ENST00000392870.2	+	2	432	c.103A>C	c.(103-105)Aag>Cag	p.K35Q		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	35	Interaction with calmodulin.|N-terminal.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		AGAAATCCTGAAGTTCCCTCA	0.572													ENSG00000198873																																					0													76.0	71.0	73.0					10																	121086078		2203	4300	6503	SO:0001583	missense	0			-	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.103A>C	10.37:g.121086078A>C	ENSP00000376609:p.Lys35Gln		D3DRD0|Q5T059	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.K35Q	ENST00000392870.2	37	c.103	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	A	8.805	0.933793	0.18206	.	.	ENSG00000198873	ENST00000369106;ENST00000392870	T	0.02345	4.33	5.02	5.02	0.67125	Regulator of G protein signalling superfamily (1);	0.000000	0.53938	U	0.000053	T	0.02119	0.0066	N	0.11106	0.095	0.80722	D	1	B	0.17038	0.02	B	0.17979	0.02	T	0.56878	-0.7906	10	0.14656	T	0.56	-9.5191	14.742	0.69464	1.0:0.0:0.0:0.0	.	35	P34947	GRK5_HUMAN	Q	35	ENSP00000376609:K35Q	ENSP00000358102:K35Q	K	+	1	0	GRK5	121076068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.367000	0.59498	2.013000	0.59113	0.533000	0.62120	AAG	-	GRK5	-	superfamily_Regulat_G_prot_signal_superfam		0.572	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	0	0		45	45		0.00		A	NM_005308		121086078	+1	4		43		tier1	no_errors	ENST00000392870	ensembl	human	known	74_37	missense	8.51		SNP	1.000	C	4	43
SCN4A	6329	genome.wustl.edu	37	17	62025311	62025311	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:62025311G>A	ENST00000435607.1	-	17	3333	c.3257C>T	c.(3256-3258)gCc>gTc	p.A1086V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1086V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1086					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGCCGTAGGCCACCCATTT	0.542													ENSG00000007314																																					0													88.0	94.0	92.0					17																	62025311		2187	4299	6486	SO:0001583	missense	0			-	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3257C>T	17.37:g.62025311G>A	ENSP00000396320:p.Ala1086Val		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.A1086V	ENST00000435607.1	37	c.3257	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048970	0.93740	.	.	ENSG00000007314	ENST00000435607	D	0.99014	-5.33	4.47	4.47	0.54385	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.87900	2.915	0.58432	D	0.999993	D	0.76494	0.999	D	0.68353	0.957	D	0.98886	1.0771	10	0.87932	D	0	.	16.6601	0.85238	0.0:0.0:1.0:0.0	.	1086	P35499	SCN4A_HUMAN	V	1086	ENSP00000396320:A1086V	ENSP00000396320:A1086V	A	-	2	0	SCN4A	59379043	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.522000	0.98032	2.502000	0.84385	0.462000	0.41574	GCC	-	SCN4A	-	pfam_Ion_trans_dom		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		0	0		78	78		0.00		G	NM_000334		62025311	-1	14		89		tier1	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	13.59		SNP	1.000	A	14	89
DOK2	9046	genome.wustl.edu	37	8	21767194	21767194	+	Silent	SNP	A	A	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:21767194A>G	ENST00000276420.4	-	5	1125	c.867T>C	c.(865-867)gcT>gcC	p.A289A	DOK2_ENST00000544659.1_Silent_p.A135A	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	289	Pro-rich.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GAGGCCGTGGAGCAGGCACCG	0.682													ENSG00000147443																																					0													45.0	49.0	48.0					8																	21767194		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.867T>C	8.37:g.21767194A>G			Q8N5A4	Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.A289	ENST00000276420.4	37	c.867	CCDS6016.1	8																																																																																			-	DOK2	-	NULL		0.682	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	HGNC	protein_coding	OTTHUMT00000253735.3	1	1		104	104		0.95		A	NM_003974		21767194	-1	20		63		tier1	no_errors	ENST00000276420	ensembl	human	known	74_37	silent	24.10		SNP	0.000	G	20	63
NBPF10	100132406	genome.wustl.edu	37	1	145368496	145368496	+	Missense_Mutation	SNP	G	G	C	rs587635605	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:145368496G>C	ENST00000369339.3	+	17	2081	c.1828G>C	c.(1828-1830)Gat>Cat	p.D610H	NBPF10_ENST00000342960.5_Missense_Mutation_p.D3492H|NBPF10_ENST00000369338.1_Missense_Mutation_p.D608H			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	787	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGGATAGATGTTA	0.448													ENSG00000163386	.|||	2	0.000399361	0.0008	0.0014	5008	,	,		49467	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			-	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1828G>C	1.37:g.145368496G>C	ENSP00000358345:p.Asp610His		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.D3492H	ENST00000369339.3	37	c.10474		1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407133	0.25378	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.13538	2.58;2.58	0.732	0.732	0.18283	.	.	.	.	.	T	0.22282	0.0537	M	0.87682	2.9	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02925	-1.1093	9	0.87932	D	0	.	4.8119	0.13347	0.0:0.0:1.0:0.0	.	556	Q4VC10	.	H	612;608;3492	ENSP00000358344:D608H;ENSP00000345684:D3492H	ENSP00000345684:D3492H	D	+	1	0	NBPF10	144079853	0.976000	0.34144	0.011000	0.14972	0.004000	0.04260	1.237000	0.32695	0.689000	0.31550	0.384000	0.25694	GAT	-	NBPF10	-	pfam_NBPF_dom		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	0	0		238	238		0.00		G	NM_001039703		145368496	+1	82		759		tier1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	9.74		SNP	0.012	C	82	759
XYLB	9942	genome.wustl.edu	37	3	38411731	38411732	+	Intron	INS	-	-	CACACACACA	rs196387|rs71085317|rs150130857	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr3:38411731_38411732insCACACACACA	ENST00000207870.3	+	9	855				XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCACTGTAGCGcacacacacac	0.5													ENSG00000093217		304	0.0607029	0.0484	0.0548	5008	,	,		17817	0.0655		0.0825	False		,,,				2504	0.0542																0																																										SO:0001627	intron_variant	0				AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.765+66->CACACACACA	3.37:g.38411732_38411741dupCACACACACA			B2RAW4|B4DDT2|B9EH64	R	INS	-	NULL	ENST00000207870.3	37	NULL	CCDS2678.1	3																																																																																				XYLB	-	-		0.500	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2									-	NM_005108		38411732	+1					tier1	no_errors	ENST00000487569	ensembl	human	putative	74_37	rna			INS	0.000:0.000	CACACACACA		
NKAIN4	128414	genome.wustl.edu	37	20	61872719	61872719	+	3'UTR	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr20:61872719G>T	ENST00000370316.3	-	0	846				NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_3'UTR|MIR3196_ENST00000579556.1_RNA	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TTAGAACCCAGGGCAGGTGCT	0.617													ENSG00000101198																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.*130C>A	20.37:g.61872719G>T			Q4VXQ6|Q9BQU8|Q9BQU9	R	SNP	-	NULL	ENST00000370316.3	37	NULL	CCDS13514.1	20																																																																																			-	NKAIN4	-	-		0.617	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN4	HGNC	protein_coding	OTTHUMT00000080117.3	0	0		66	66		0.00		G	NM_152864		61872719	-1	17		65		tier1	no_errors	ENST00000466885	ensembl	human	known	74_37	rna	20.73		SNP	0.000	T	17	65
MYH14	79784	genome.wustl.edu	37	19	50792733	50792733	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:50792733C>A	ENST00000596571.1	+	32	4670	c.4670C>A	c.(4669-4671)gCa>gAa	p.A1557E	MYH14_ENST00000598205.1_Missense_Mutation_p.A1565E|MYH14_ENST00000440075.2_Missense_Mutation_p.A1598E|MYH14_ENST00000262269.8_Missense_Mutation_p.A1598E|MYH14_ENST00000425460.1_Missense_Mutation_p.A1565E|MYH14_ENST00000376970.2_Missense_Mutation_p.A1590E|MYH14_ENST00000601313.1_Missense_Mutation_p.A1598E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1557					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCAGAACAGGCAGCCAATGAT	0.607													ENSG00000105357																																					0													34.0	39.0	37.0					19																	50792733		2178	4280	6458	SO:0001583	missense	0			-	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4670C>A	19.37:g.50792733C>A	ENSP00000472819:p.Ala1557Glu		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1598E	ENST00000596571.1	37	c.4793	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	7.998	0.754853	0.15846	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	4.25	3.21	0.36854	Myosin tail (1);	.	.	.	.	T	0.22244	0.0536	N	0.00210	-1.845	0.23632	N	0.997249	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.15870	0.008;0.014;0.008	T	0.39187	-0.9626	9	0.02654	T	1	.	5.1034	0.14772	0.2063:0.6859:0.0:0.1078	.	1598;1557;1565	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	E	1598;1590;1565;1341;1598	ENSP00000406273:A1598E;ENSP00000366169:A1590E;ENSP00000407879:A1565E;ENSP00000262269:A1598E	ENSP00000262269:A1598E	A	+	2	0	MYH14	55484545	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	2.905000	0.48727	1.142000	0.42291	0.491000	0.48974	GCA	-	MYH14	-	pfam_Myosin_tail,superfamily_Prefoldin		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	0	0		50	50		0.00		C	NM_024729		50792733	+1	6		43		tier1	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	12.24		SNP	1.000	A	6	43
ZBED9	114821	genome.wustl.edu	37	6	28541205	28541205	+	Missense_Mutation	SNP	G	G	A	rs199908707		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:28541205G>A	ENST00000452236.2	-	4	3078	c.2461C>T	c.(2461-2463)Cgg>Tgg	p.R821W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tatgaagcccgcaaagcacta	0.383													ENSG00000232040	G|||	1	0.000199681	0.0	0.0	5008	,	,		19328	0.0		0.001	False		,,,				2504	0.0																0													119.0	114.0	116.0					6																	28541205		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005																												ENST00000452236.2:c.2461C>T	6.37:g.28541205G>A	ENSP00000395259:p.Arg821Trp			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.R821W	ENST00000452236.2	37	c.2461	CCDS34355.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.04	2.417131	0.42918	.	.	ENSG00000232040	ENST00000452236	T	0.01548	4.78	2.27	-0.78	0.10969	.	0.100108	0.32190	U	0.006453	T	0.01592	0.0051	L	0.46157	1.445	0.27051	N	0.963778	D	0.76494	0.999	D	0.71414	0.973	T	0.47433	-0.9118	10	0.87932	D	0	.	3.0292	0.06101	0.1523:0.0:0.3758:0.4719	.	821	Q6R2W3	SCND3_HUMAN	W	821	ENSP00000395259:R821W	ENSP00000395259:R821W	R	-	1	2	SCAND3	28649184	0.962000	0.33011	0.979000	0.43373	0.987000	0.75469	-0.104000	0.10923	-0.229000	0.09854	0.655000	0.94253	CGG	rs199908707	SCAND3	-	NULL		0.383	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	0	0		53	53		0.00		G			28541205	-1	12		62		tier1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	16.22		SNP	0.984	A	12	62
MTMR4	9110	genome.wustl.edu	37	17	56573691	56573691	+	Splice_Site	SNP	T	T	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:56573691T>C	ENST00000323456.5	-	16	1936	c.1812A>G	c.(1810-1812)agA>agG	p.R604R	MTMR4_ENST00000579925.1_Splice_Site_p.R547R	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	604					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTAGGTAATCTGGAAAGAC	0.438													ENSG00000108389																																					0													35.0	34.0	35.0					17																	56573691		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1812-1A>G	17.37:g.56573691T>C			D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.R604	ENST00000323456.5	37	c.1812	CCDS11608.1	17																																																																																			-	MTMR4	-	NULL		0.438	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	0	0		30	30		0.00		T	NM_004687	Silent	56573691	-1	4		41		tier1	no_errors	ENST00000323456	ensembl	human	known	74_37	silent	8.89		SNP	0.998	C	4	41
NBPF10	100132406	genome.wustl.edu	37	1	145368529	145368529	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:145368529G>C	ENST00000369339.3	+	17	2114	c.1861G>C	c.(1861-1863)Gaa>Caa	p.E621Q	NBPF10_ENST00000342960.5_Missense_Mutation_p.E3503Q|NBPF10_ENST00000369338.1_Missense_Mutation_p.E619Q			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	798	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AATGTACTTTGAACTACCTGA	0.448													ENSG00000163386																																					0																																										SO:0001583	missense	0			-	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1861G>C	1.37:g.145368529G>C	ENSP00000358345:p.Glu621Gln		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.E3503Q	ENST00000369339.3	37	c.10507		1	.	.	.	.	.	.	.	.	.	.	.	7.478	0.648150	0.14516	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.08634	3.07;3.07	0.732	0.732	0.18283	.	.	.	.	.	T	0.06234	0.0161	M	0.62209	1.925	0.09310	N	1	B	0.31026	0.304	P	0.46208	0.507	T	0.45527	-0.9255	9	0.42905	T	0.14	.	4.8119	0.13347	0.0:0.0:1.0:0.0	.	567	Q4VC10	.	Q	623;619;3503	ENSP00000358344:E619Q;ENSP00000345684:E3503Q	ENSP00000345684:E3503Q	E	+	1	0	NBPF10	144079886	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.227000	0.17795	0.689000	0.31550	0.384000	0.25694	GAA	-	NBPF10	-	pfam_NBPF_dom		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	0	0		260	260		0.00		G	NM_001039703		145368529	+1	104		935		tier1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	10.01		SNP	0.004	C	104	935
UNC13A	23025	genome.wustl.edu	37	19	17768952	17768952	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:17768952C>T	ENST00000519716.2	-	9	685	c.686G>A	c.(685-687)cGc>cAc	p.R229H	UNC13A_ENST00000428389.2_Missense_Mutation_p.R317H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R229H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R229H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R229H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R229H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	229					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGTGGGCGAACAGAATA	0.572													ENSG00000130477																																					0													107.0	111.0	110.0					19																	17768952		2061	4205	6266	SO:0001583	missense	0			-	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.686G>A	19.37:g.17768952C>T	ENSP00000429562:p.Arg229His		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R317H	ENST00000519716.2	37	c.950	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	17.99	3.524275	0.64747	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.81739	-1.51;-1.53;-1.51;-1.38;-1.38;-1.5	4.63	4.63	0.57726	.	0.307905	0.26334	U	0.024962	T	0.74038	0.3664	L	0.44542	1.39	0.37233	D	0.905785	B	0.12630	0.006	B	0.06405	0.002	T	0.72818	-0.4178	10	0.32370	T	0.25	-12.7878	14.9688	0.71217	0.0:1.0:0.0:0.0	.	229	Q9UPW8	UN13A_HUMAN	H	229;317;229;229;229;229	ENSP00000429562:R229H;ENSP00000400409:R317H;ENSP00000252773:R229H;ENSP00000447236:R229H;ENSP00000447572:R229H;ENSP00000446831:R229H	ENSP00000252773:R229H	R	-	2	0	UNC13A	17629952	0.951000	0.32395	0.984000	0.44739	0.807000	0.45602	5.646000	0.67916	2.141000	0.66446	0.484000	0.47621	CGC	-	UNC13A	-	NULL		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	0	0		87	87		0.00		C	XM_038604		17768952	-1	30		95		tier1	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	24.00		SNP	0.981	T	30	95
ERI1	90459	genome.wustl.edu	37	8	8873857	8873857	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:8873857G>T	ENST00000523898.1	+	5	1203	c.524G>T	c.(523-525)aGa>aTa	p.R175I	ERI1_ENST00000519292.1_Missense_Mutation_p.R175I|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.R175I			Q8IV48	ERI1_HUMAN	exoribonuclease 1	175	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						CAGTATGTAAGACCAGAGATT	0.363													ENSG00000104626																																					0													169.0	167.0	168.0					8																	8873857		2203	4300	6503	SO:0001583	missense	0			-	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.524G>T	8.37:g.8873857G>T	ENSP00000429615:p.Arg175Ile		A8K4U7|Q9NSX3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/D_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom	p.R175I	ENST00000523898.1	37	c.524	CCDS5972.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167889	0.78339	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.50001	0.76;0.76;0.76	5.67	3.87	0.44632	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.123737	0.85682	D	0.000000	T	0.68513	0.3009	M	0.91612	3.225	0.80722	D	1	D	0.59767	0.986	P	0.59703	0.862	T	0.74836	-0.3529	10	0.87932	D	0	-16.3678	9.8239	0.40899	0.2283:0.0:0.7717:0.0	.	175	Q8IV48	ERI1_HUMAN	I	175	ENSP00000429615:R175I;ENSP00000250263:R175I;ENSP00000430190:R175I	ENSP00000250263:R175I	R	+	2	0	ERI1	8911267	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.277000	0.51654	1.396000	0.46663	0.563000	0.77884	AGA	-	ERI1	-	pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.363	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI1	HGNC	protein_coding	OTTHUMT00000251471.2	0	0		39	39		0.00		G	NM_153332		8873857	+1	4		40		tier1	no_errors	ENST00000250263	ensembl	human	known	74_37	missense	9.09		SNP	0.998	T	4	40
STARD9	57519	genome.wustl.edu	37	15	42985565	42985565	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:42985565G>T	ENST00000290607.7	+	23	11846	c.11789G>T	c.(11788-11790)gGc>gTc	p.G3930V		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	3930					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						CCTGTTGAAGGCCACCAGAAG	0.562													ENSG00000159433																																					0													34.0	38.0	37.0					15																	42985565		692	1590	2282	SO:0001583	missense	0			-	AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.11789G>T	15.37:g.42985565G>T	ENSP00000290607:p.Gly3930Val		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G3930V	ENST00000290607.7	37	c.11789	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790078	0.50102	.	.	ENSG00000159433	ENST00000290607	T	0.64803	-0.12	5.8	0.0661	0.14360	.	.	.	.	.	T	0.49847	0.1581	L	0.40543	1.245	0.09310	N	1	P	0.43477	0.808	B	0.39419	0.299	T	0.40997	-0.9533	9	0.66056	D	0.02	.	8.8451	0.35166	0.5061:0.0:0.4939:0.0	.	3844	Q9P2P6	STAR9_HUMAN	V	3930	ENSP00000290607:G3930V	ENSP00000290607:G3930V	G	+	2	0	STARD9	40772857	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	0.083000	0.14871	0.095000	0.17434	-0.448000	0.05591	GGC	-	STARD9	-	NULL		0.562	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	0	0		33	33		0.00		G			42985565	+1	4		38		tier1	no_errors	ENST00000290607	ensembl	human	known	74_37	missense	9.52		SNP	0.000	T	4	38
CDKL5	6792	genome.wustl.edu	37	X	18668605	18668605	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chrX:18668605T>A	ENST00000379989.3	+	21	3158	c.2873T>A	c.(2872-2874)aTc>aAc	p.I958N	RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.I958N|RS1_ENST00000476595.1_5'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	958					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CATCGTCCAATCTCCAGTCCT	0.567													ENSG00000008086																																					0													155.0	111.0	126.0					X																	18668605		2203	4300	6503	SO:0001583	missense	0			-	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2873T>A	X.37:g.18668605T>A	ENSP00000369325:p.Ile958Asn		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I958N	ENST00000379989.3	37	c.2873	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013924	0.19277	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71934	-0.61;-0.61	3.8	-0.0499	0.13833	.	1.741500	0.04638	N	0.404874	T	0.47525	0.1450	N	0.08118	0	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	10	0.62326	D	0.03	.	1.2538	0.01988	0.1413:0.2828:0.3313:0.2445	.	958	O76039	CDKL5_HUMAN	N	958	ENSP00000369332:I958N;ENSP00000369325:I958N	ENSP00000369325:I958N	I	+	2	0	CDKL5	18578526	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.021000	0.13489	-0.424000	0.07382	-0.170000	0.13304	ATC	-	CDKL5	-	NULL		0.567	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	0	0		42	42		0.00		T	NM_003159		18668605	+1	14		38		tier1	no_errors	ENST00000379989	ensembl	human	known	74_37	missense	26.42		SNP	0.000	A	14	38
MIR129-1	406917	genome.wustl.edu	37	7	127847943	127847943	+	RNA	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:127847943G>C	ENST00000384972.1	+	0	20					NR_029596.1				microRNA 129-1																		TTGCGGTCTGGGCTTGCTGTT	0.602													ENSG00000207705																																					0													33.0	33.0	33.0					7																	127847943		1568	3582	5150			0			-			7q32.1	2011-09-12		2008-12-18	ENSG00000207705	ENSG00000207705		"""ncRNAs / Micro RNAs"""	31512	non-coding RNA	RNA, micro				MIRN129-1			Standard	NR_029596		Approved	hsa-mir-129-1	uc011koi.2				7.37:g.127847943G>C				R	SNP	-	NULL	ENST00000384972.1	37	NULL		7																																																																																			-	MIR129-1	-	-		0.602	MIR129-1-201	KNOWN	basic	miRNA	MIR129-1	HGNC	miRNA		0	0		41	41		0.00		G	NR_029596		127847943	+1	5		21		tier1	no_errors	ENST00000384972	ensembl	human	known	74_37	rna	19.23		SNP	1.000	C	5	21
DPP9	91039	genome.wustl.edu	37	19	4694694	4694694	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:4694694C>G	ENST00000598800.1	-	14	1913	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	DPP9_ENST00000594671.1_Missense_Mutation_p.E470Q|DPP9_ENST00000262960.9_Missense_Mutation_p.E499Q|DPP9_ENST00000597849.1_Missense_Mutation_p.E499Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	470						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTGAAGGGCTCACTCCAATCG	0.537													ENSG00000142002																																					0													28.0	32.0	31.0					19																	4694694		2012	4166	6178	SO:0001583	missense	0			-	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1408G>C	19.37:g.4694694C>G	ENSP00000469603:p.Glu470Gln		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.E499Q	ENST00000598800.1	37	c.1495		19	.	.	.	.	.	.	.	.	.	.	C	9.153	1.016786	0.19355	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30182	1.54	3.76	-0.112	0.13572	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.564499	0.18906	N	0.127895	T	0.10981	0.0268	N	0.02225	-0.63	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.31110	-0.9955	10	0.07482	T	0.82	-11.8663	14.2408	0.65956	0.0:0.2691:0.7309:0.0	.	470;499	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	Q	578;440;499	ENSP00000262960:E499Q	ENSP00000262960:E499Q	E	-	1	0	DPP9	4645694	0.229000	0.23729	0.364000	0.25888	0.934000	0.57294	0.423000	0.21313	0.268000	0.21939	0.561000	0.74099	GAG	-	DPP9	-	pfam_Peptidase_S9B		0.537	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	0	0		53	53		0.00		C			4694694	-1	9		80		tier1	no_errors	ENST00000262960	ensembl	human	known	74_37	missense	10.11		SNP	0.123	G	9	80
PNPLA6	10908	genome.wustl.edu	37	19	7619446	7619446	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:7619446A>C	ENST00000221249.6	+	24	2788	c.2357A>C	c.(2356-2358)cAa>cCa	p.Q786P	PNPLA6_ENST00000450331.3_Missense_Mutation_p.Q786P|PNPLA6_ENST00000414982.3_Missense_Mutation_p.Q834P|PNPLA6_ENST00000600737.1_Missense_Mutation_p.Q824P|PNPLA6_ENST00000545201.2_Missense_Mutation_p.Q759P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	825					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAGCATCCAAGAGTTCCGG	0.642													ENSG00000032444																																					0													55.0	45.0	48.0					19																	7619446		2203	4300	6503	SO:0001583	missense	0			-	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2357A>C	19.37:g.7619446A>C	ENSP00000221249:p.Gln786Pro		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q834P	ENST00000221249.6	37	c.2501	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	a	11.88	1.769620	0.31320	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.66	3.64	0.41730	.	0.185328	0.47852	D	0.000213	T	0.20536	0.0494	L	0.40543	1.245	0.39297	D	0.964843	B;B;B;B	0.09022	0.0;0.001;0.0;0.002	B;B;B;B	0.10450	0.0;0.005;0.001;0.005	T	0.06075	-1.0847	10	0.59425	D	0.04	.	8.6856	0.34236	0.9079:0.0:0.0921:0.0	.	825;759;824;786	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	P	786;759;834;786	ENSP00000221249:Q786P;ENSP00000443323:Q759P;ENSP00000407509:Q834P;ENSP00000394348:Q786P	ENSP00000221249:Q786P	Q	+	2	0	PNPLA6	7525446	1.000000	0.71417	0.989000	0.46669	0.281000	0.26958	7.250000	0.78287	0.922000	0.37019	0.374000	0.22700	CAA	-	PNPLA6	-	NULL		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	0	0		50	50		0.00		A	NM_006702		7619446	+1	15		76		tier1	no_errors	ENST00000414982	ensembl	human	known	74_37	missense	16.48		SNP	0.997	C	15	76
ADAMTS3	9508	genome.wustl.edu	37	4	73280608	73280608	+	Silent	SNP	T	T	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:73280608T>G	ENST00000286657.4	-	4	621	c.585A>C	c.(583-585)ggA>ggC	p.G195G		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	195					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATGAATCCTTCCTTTTTCTT	0.398													ENSG00000156140																									NSCLC(168;1941 2048 2918 13048 43078)												0													176.0	168.0	171.0					4																	73280608		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.585A>C	4.37:g.73280608T>G			A1L3U9|Q9BXZ8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.G195	ENST00000286657.4	37	c.585	CCDS3553.1	4																																																																																			-	ADAMTS3	-	pfam_Peptidase_M12B_N		0.398	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	0	0		91	91		0.00		T			73280608	-1	15		80		tier1	no_errors	ENST00000286657	ensembl	human	known	74_37	silent	15.79		SNP	1.000	G	15	80
FSTL5	56884	genome.wustl.edu	37	4	162307283	162307283	+	Silent	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:162307283G>A	ENST00000306100.5	-	16	2596	c.2160C>T	c.(2158-2160)taC>taT	p.Y720Y	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.Y710Y|FSTL5_ENST00000379164.4_Silent_p.Y719Y|FSTL5_ENST00000536695.1_Silent_p.Y719Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	720						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGATGGTAATGTACTGAACCC	0.423													ENSG00000168843																																					0													101.0	94.0	97.0					4																	162307283		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2160C>T	4.37:g.162307283G>A			E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.Y720	ENST00000306100.5	37	c.2160	CCDS3802.1	4																																																																																			-	FSTL5	-	NULL		0.423	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	0	0		38	38		0.00		G	NM_020116		162307283	-1	15		18		tier1	no_errors	ENST00000306100	ensembl	human	known	74_37	silent	45.45		SNP	0.962	A	15	18
PREX2	80243	genome.wustl.edu	37	8	69032459	69032459	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr8:69032459G>A	ENST00000288368.4	+	29	3810	c.3533G>A	c.(3532-3534)gGg>gAg	p.G1178E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1178					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCCTAAAAGGGCAGGCTGTT	0.383													ENSG00000046889																																					0													117.0	117.0	117.0					8																	69032459		2203	4300	6503	SO:0001583	missense	0			-	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3533G>A	8.37:g.69032459G>A	ENSP00000288368:p.Gly1178Glu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1178E	ENST00000288368.4	37	c.3533	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791474	0.90367	.	.	ENSG00000046889	ENST00000288368	T	0.34472	1.36	5.29	5.29	0.74685	.	0.058678	0.64402	N	0.000002	T	0.59838	0.2223	M	0.68593	2.085	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.61023	-0.7146	10	0.59425	D	0.04	.	19.3067	0.94165	0.0:0.0:1.0:0.0	.	1178	Q70Z35	PREX2_HUMAN	E	1178	ENSP00000288368:G1178E	ENSP00000288368:G1178E	G	+	2	0	PREX2	69195013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.623000	0.88846	0.650000	0.86243	GGG	-	PREX2	-	NULL		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	0	0		33	33		0.00		G	NM_025170		69032459	+1	11		34		tier1	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	24.44		SNP	1.000	A	11	34
TUBA3C	7278	genome.wustl.edu	37	13	19751171	19751171	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr13:19751171A>T	ENST00000400113.3	-	4	1056	c.952T>A	c.(952-954)Ttg>Atg	p.L318M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	318					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCCTGTACAACATGCAGCAG	0.567													ENSG00000198033																																					0													170.0	141.0	151.0					13																	19751171		2203	4300	6503	SO:0001583	missense	0			-	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.952T>A	13.37:g.19751171A>T	ENSP00000382982:p.Leu318Met		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.L318M	ENST00000400113.3	37	c.952	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	a	9.833	1.188819	0.21954	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.82255	-1.59	1.21	-1.63	0.08345	.	0.000000	0.37530	U	0.002059	T	0.77916	0.4202	.	.	.	0.32322	N	0.562223	.	.	.	.	.	.	T	0.73672	-0.3909	7	0.42905	T	0.14	.	6.0489	0.19775	0.3773:0.0:0.6227:0.0	.	.	.	.	M	318	ENSP00000382982:L318M	ENSP00000354037:L318M	L	-	1	2	TUBA3C	18649171	0.988000	0.35896	0.993000	0.49108	0.527000	0.34593	0.033000	0.13754	-0.503000	0.06586	0.155000	0.16302	TTG	-	TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	0	0		135	135		0.00		A	NM_006001		19751171	-1	30		129		tier1	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	18.87		SNP	1.000	T	30	129
DUSP27	92235	genome.wustl.edu	37	1	167096832	167096832	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:167096832C>G	ENST00000361200.2	+	6	2630	c.2464C>G	c.(2464-2466)Ccc>Gcc	p.P822A	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.P822A|DUSP27_ENST00000443333.1_Missense_Mutation_p.P822A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	822					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACCAGCAAGCCCATCTTCAG	0.537													ENSG00000198842																																					0													89.0	82.0	84.0					1																	167096832		2203	4300	6503	SO:0001583	missense	0			-	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2464C>G	1.37:g.167096832C>G	ENSP00000354483:p.Pro822Ala		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.P822A	ENST00000361200.2	37	c.2464	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989424	0.74589	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.15718	2.4;2.4;2.4	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.36468	0.0968	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.20571	-1.0271	10	0.87932	D	0	-20.6101	19.0827	0.93188	0.0:1.0:0.0:0.0	.	822	Q5VZP5	DUS27_HUMAN	A	822	ENSP00000354483:P822A;ENSP00000271385:P822A;ENSP00000404874:P822A	ENSP00000271385:P822A	P	+	1	0	DUSP27	165363456	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.476000	0.81055	2.476000	0.83614	0.551000	0.68910	CCC	-	DUSP27	-	NULL		0.537	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	0	0		26	26		0.00		C	NM_001080426		167096832	+1	27		176		tier1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	13.30		SNP	1.000	G	27	176
PCDHB6	56130	genome.wustl.edu	37	5	140530374	140530374	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:140530374T>C	ENST00000231136.1	+	1	536	c.536T>C	c.(535-537)gTt>gCt	p.V179A	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V43A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	179	Cadherin 2. {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)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTTCCACGTTCTCACCCGC	0.547													ENSG00000113211																																					0													140.0	148.0	145.0					5																	140530374		2203	4300	6503	SO:0001583	missense	0			-	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.536T>C	5.37:g.140530374T>C	ENSP00000231136:p.Val179Ala		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V179A	ENST00000231136.1	37	c.536	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439985	0.63067	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.59772	0.24;0.24	4.7	4.7	0.59300	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75012	0.3792	M	0.91663	3.23	0.09310	N	1	P	0.49862	0.929	P	0.53760	0.734	T	0.70153	-0.4950	9	0.87932	D	0	.	11.7011	0.51571	0.0:0.0:0.1475:0.8525	.	179	Q9Y5E3	PCDB6_HUMAN	A	43;179	ENSP00000438466:V43A;ENSP00000231136:V179A	ENSP00000231136:V179A	V	+	2	0	PCDHB6	140510558	0.080000	0.21391	0.990000	0.47175	0.950000	0.60333	2.428000	0.44749	1.877000	0.54381	0.459000	0.35465	GTT	-	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	0	0		35	35		0.00		T	NM_018939		140530374	+1	5		21		tier1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	19.23		SNP	0.006	C	5	21
TDRD6	221400	genome.wustl.edu	37	6	46656482	46656482	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:46656482G>A	ENST00000316081.6	+	1	617	c.617G>A	c.(616-618)cGt>cAt	p.R206H	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R206H|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	206					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCCTCTTCCGTTCGCTGCTG	0.662													ENSG00000180113																																					0													37.0	44.0	42.0					6																	46656482		2200	4294	6494	SO:0001583	missense	0			-	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.617G>A	6.37:g.46656482G>A	ENSP00000346065:p.Arg206His		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R206H	ENST00000316081.6	37	c.617	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	8.038	0.763175	0.15914	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15603	2.41;2.41	5.97	4.13	0.48395	.	0.422030	0.28312	N	0.015804	T	0.06645	0.0170	L	0.55743	1.74	0.25471	N	0.98783	B;B	0.30361	0.277;0.182	B;B	0.21708	0.036;0.018	T	0.14783	-1.0460	10	0.44086	T	0.13	-8.6813	11.7457	0.51819	0.1502:0.0:0.8498:0.0	.	206;206	F5H5M3;O60522	.;TDRD6_HUMAN	H	206	ENSP00000443299:R206H;ENSP00000346065:R206H	ENSP00000346065:R206H	R	+	2	0	TDRD6	46764441	0.998000	0.40836	0.990000	0.47175	0.159000	0.22180	2.656000	0.46716	0.802000	0.34089	-0.345000	0.07892	CGT	-	TDRD6	-	NULL		0.662	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	0	0		39	39		0.00		G	XM_166443		46656482	+1	13		38		tier1	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	25.49		SNP	0.960	A	13	38
INF2	64423	genome.wustl.edu	37	14	105177455	105177455	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:105177455A>C	ENST00000392634.4	+	15	2462	c.2350A>C	c.(2350-2352)Aca>Cca	p.T784P	INF2_ENST00000330634.7_Missense_Mutation_p.T784P	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	784	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAAGATCAGCACATTGCTGAA	0.667													ENSG00000203485																																					0													21.0	23.0	22.0					14																	105177455		2067	4203	6270	SO:0001583	missense	0			-	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2350A>C	14.37:g.105177455A>C	ENSP00000376410:p.Thr784Pro		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.T784P	ENST00000392634.4	37	c.2350	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422090	0.62622	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.19105	2.17;2.17	4.23	1.72	0.24424	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.112774	0.64402	D	0.000010	T	0.41351	0.1155	M	0.88450	2.955	0.80722	D	1	D;D	0.59767	0.982;0.986	P;P	0.58928	0.764;0.848	T	0.19484	-1.0304	10	0.56958	D	0.05	.	6.226	0.20708	0.7781:0.0:0.0805:0.1414	.	784;784	Q27J81-2;Q27J81	.;INF2_HUMAN	P	784	ENSP00000376406:T784P;ENSP00000376410:T784P	ENSP00000252527:T252P	T	+	1	0	INF2	104248500	1.000000	0.71417	0.048000	0.18961	0.819000	0.46315	4.152000	0.58111	0.051000	0.15978	0.402000	0.26972	ACA	-	INF2	-	pfam_FH2_Formin,smart_FH2_Formin		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	0	0		27	27		0.00		A	NM_022489		105177455	+1	17		20		tier1	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	45.95		SNP	0.997	C	17	20
IFI6	2537	genome.wustl.edu	37	1	27995782	27995782	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:27995782A>C	ENST00000361157.6	-	2	171	c.44T>G	c.(43-45)cTc>cGc	p.L15R	IFI6_ENST00000339145.4_Missense_Mutation_p.L15R|RP11-288L9.4_ENST00000430683.1_RNA|IFI6_ENST00000362020.4_Missense_Mutation_p.L15R	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	15					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAAGTGAAGAGCAGCAGGTA	0.607											OREG0013292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000126709																																					0													145.0	105.0	119.0					1																	27995782		2123	4160	6283	SO:0001583	missense	0			-	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"""interferon, alpha-inducible protein (clone IFI-6-16)"""	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.44T>G	1.37:g.27995782A>C	ENSP00000354736:p.Leu15Arg	798	Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	pfam_IFI6/IFI27	p.L15R	ENST00000361157.6	37	c.44	CCDS306.1	1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066799	0.76301	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.46819	0.87;1.13;0.86	3.55	2.42	0.29668	.	0.427260	0.17071	N	0.188172	T	0.52041	0.1710	L	0.36672	1.1	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.946;0.946;0.976	T	0.33471	-0.9867	10	0.87932	D	0	.	5.3367	0.15961	0.8663:0.0:0.1337:0.0	.	15;15;15	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	R	15	ENSP00000354736:L15R;ENSP00000342513:L15R;ENSP00000355152:L15R	ENSP00000342513:L15R	L	-	2	0	IFI6	27868369	0.096000	0.21769	0.001000	0.08648	0.941000	0.58515	3.063000	0.49978	0.562000	0.29204	0.460000	0.39030	CTC	-	IFI6	-	NULL		0.607	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFI6	HGNC	protein_coding	OTTHUMT00000009780.1	0	0		110	110		0.00		A	NM_022873		27995782	-1	19		96		tier1	no_errors	ENST00000339145	ensembl	human	known	74_37	missense	16.38		SNP	0.003	C	19	96
TMPRSS5	80975	genome.wustl.edu	37	11	113560630	113560630	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:113560630C>T	ENST00000299882.5	-	12	1364	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	TMPRSS5_ENST00000545265.1_5'Flank|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.G293R|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.G397R|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.G147R|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.G362R|TMPRSS5_ENST00000536856.1_Intron|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.G337R	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	406	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGGGGGCCCCCGCTATCTCCC	0.602													ENSG00000166682																																					0													12.0	13.0	12.0					11																	113560630		1870	4090	5960	SO:0001583	missense	0			-	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1216G>A	11.37:g.113560630C>T	ENSP00000299882:p.Gly406Arg			Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G406R	ENST00000299882.5	37	c.1216	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	c	17.14	3.312692	0.60414	.	.	ENSG00000166682	ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D;D	0.99871	-7.35;-7.35;-7.35;-7.35;-7.35;-7.35	4.52	4.52	0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	U	0.000009	D	0.99924	0.9965	H	0.99590	4.645	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.971;1.0	D	0.95831	0.8858	10	0.87932	D	0	.	16.1895	0.81977	0.0:1.0:0.0:0.0	.	337;397;406	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	R	147;406;397;362;337;293	ENSP00000437761:G147R;ENSP00000299882:G406R;ENSP00000441104:G397R;ENSP00000445528:G362R;ENSP00000440783:G337R;ENSP00000445930:G293R	ENSP00000299882:G406R	G	-	1	0	TMPRSS5	113065840	1.000000	0.71417	0.845000	0.33349	0.088000	0.18126	5.727000	0.68523	2.354000	0.79902	0.479000	0.44913	GGG	-	TMPRSS5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A		0.602	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1	0	0		36	36		0.00		C	NM_030770		113560630	-1	13		20		tier1	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	39.39		SNP	1.000	T	13	20
PCYOX1	51449	genome.wustl.edu	37	2	70504006	70504006	+	Nonsense_Mutation	SNP	G	G	T	rs200244897		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:70504006G>T	ENST00000433351.2	+	6	1028	c.1000G>T	c.(1000-1002)Gag>Tag	p.E334*	PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E257*|PCYOX1_ENST00000264441.5_Intron|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E256*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	334					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TCCTCCAATTGAGGAATTCCA	0.368													ENSG00000116005																																					0													57.0	59.0	58.0					2																	70504006		2203	4300	6503	SO:0001587	stop_gained	0			-	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.1000G>T	2.37:g.70504006G>T	ENSP00000387654:p.Glu334*		B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Nonsense_Mutation	SNP	pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase	p.E334*	ENST00000433351.2	37	c.1000	CCDS1902.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.330990	0.95733	.	.	ENSG00000116005	ENST00000505044;ENST00000433351;ENST00000545138	.	.	.	5.65	3.77	0.43336	.	0.297894	0.37623	N	0.002019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-22.7371	8.2983	0.31999	0.0848:0.3812:0.534:0.0	.	.	.	.	X	257;334;256	.	ENSP00000387654:E334X	E	+	1	0	PCYOX1	70357510	0.091000	0.21658	1.000000	0.80357	0.989000	0.77384	1.034000	0.30204	1.608000	0.50180	-0.176000	0.13171	GAG	rs200244897	PCYOX1	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase		0.368	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1	HGNC	protein_coding	OTTHUMT00000251872.3	0	0		54	54		0.00		G	NM_016297		70504006	+1	11		33		tier1	no_errors	ENST00000433351	ensembl	human	known	74_37	nonsense	25.00		SNP	1.000	T	11	33
EXOC6B	23233	genome.wustl.edu	37	2	72411239	72411239	+	Silent	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:72411239C>G	ENST00000272427.6	-	21	2404	c.2274G>C	c.(2272-2274)cgG>cgC	p.R758R	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	758					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTGGGTTTACCCGGAGGTACT	0.517													ENSG00000144036																																					0													46.0	45.0	45.0					2																	72411239		1937	4123	6060	SO:0001819	synonymous_variant	0			-	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2274G>C	2.37:g.72411239C>G			B8ZZY3	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.R758	ENST00000272427.6	37	c.2274	CCDS46333.1	2																																																																																			-	EXOC6B	-	pfam_Sec15,pirsf_Sec15		0.517	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	0	0		54	54		0.00		C	XM_039570		72411239	-1	14		33		tier1	no_errors	ENST00000272427	ensembl	human	known	74_37	silent	29.79		SNP	0.622	G	14	33
PCLO	27445	genome.wustl.edu	37	7	82545805	82545805	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:82545805A>T	ENST00000333891.9	-	7	11834	c.11497T>A	c.(11497-11499)Tac>Aac	p.Y3833N	PCLO_ENST00000423517.2_Missense_Mutation_p.Y3833N|PCLO_ENST00000437081.1_Missense_Mutation_p.Y553N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGACATGTAATCACGATCC	0.473													ENSG00000186472																																					0													247.0	232.0	237.0					7																	82545805		2017	4163	6180	SO:0001583	missense	0			-	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11497T>A	7.37:g.82545805A>T	ENSP00000334319:p.Tyr3833Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Y3833N	ENST00000333891.9	37	c.11497	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343769	0.61073	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.57273	0.41;0.43	5.67	5.67	0.87782	.	.	.	.	.	T	0.72890	0.3517	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.76531	-0.2925	9	0.87932	D	0	.	15.9146	0.79503	1.0:0.0:0.0:0.0	.	3764;3833;3833	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	3833;3833;553	ENSP00000334319:Y3833N;ENSP00000388393:Y3833N	ENSP00000334319:Y3833N	Y	-	1	0	PCLO	82383741	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.339000	0.96797	2.172000	0.68678	0.379000	0.24179	TAC	-	PCLO	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		62	62		0.00		A	NM_014510		82545805	-1	16		82		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	16.33		SNP	1.000	T	16	82
NBPF10	100132406	genome.wustl.edu	37	1	145368500	145368500	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:145368500G>T	ENST00000369339.3	+	17	2085	c.1832G>T	c.(1831-1833)aGa>aTa	p.R611I	NBPF10_ENST00000342960.5_Missense_Mutation_p.R3493I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R609I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	788	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCACTGGATAGATGTTATTCG	0.458													ENSG00000163386																																					0																																										SO:0001583	missense	0			-	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1832G>T	1.37:g.145368500G>T	ENSP00000358345:p.Arg611Ile		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.R3493I	ENST00000369339.3	37	c.10478		1	.	.	.	.	.	.	.	.	.	.	.	4.244	0.044173	0.08196	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.08546	3.08;3.08	0.732	-1.46	0.08800	.	.	.	.	.	T	0.02888	0.0086	M	0.71296	2.17	0.09310	N	1	B	0.24576	0.106	B	0.28011	0.085	T	0.42515	-0.9447	9	0.56958	D	0.05	.	2.2521	0.04046	0.4057:0.31:0.2844:0.0	.	557	Q4VC10	.	I	613;609;3493	ENSP00000358344:R609I;ENSP00000345684:R3493I	ENSP00000345684:R3493I	R	+	2	0	NBPF10	144079857	0.736000	0.28164	0.000000	0.03702	0.000000	0.00434	-0.562000	0.05950	-1.301000	0.02338	-0.540000	0.04249	AGA	-	NBPF10	-	pfam_NBPF_dom		0.458	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	0	0		241	241		0.00		G	NM_001039703		145368500	+1	86		787		tier1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	9.85		SNP	0.000	T	86	787
GUSB	2990	genome.wustl.edu	37	7	65439619	65439619	+	Missense_Mutation	SNP	C	C	T	rs377615121		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr7:65439619C>T	ENST00000304895.4	-	7	1268	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	GUSB_ENST00000421103.1_Missense_Mutation_p.A234T|GUSB_ENST00000345660.6_Missense_Mutation_p.A329T|GUSB_ENST00000476486.1_5'Flank	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	380					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.A380T(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GTACGGAAAGCGTTGGCACCA	0.592													ENSG00000169919																																					1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	84.0	87.0		1138	-3.9	0.5	7		87	0,8600		0,0,4300	no	missense	GUSB	NM_000181.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	380/652	65439619	1,13005	2203	4300	6503	SO:0001583	missense	0			-	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1138G>A	7.37:g.65439619C>T	ENSP00000302728:p.Ala380Thr		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.A380T	ENST00000304895.4	37	c.1138	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926159	0.52759	2.27E-4	0.0	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95821	-3.82;-3.82;-3.82	4.52	-3.92	0.04155	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.339317	0.35970	N	0.002875	D	0.94588	0.8256	L	0.53780	1.695	0.36633	D	0.876401	D;P	0.56287	0.975;0.805	P;B	0.50825	0.651;0.201	D	0.92952	0.6381	10	0.56958	D	0.05	.	19.0272	0.92937	0.8771:0.1229:0.0:0.0	.	234;380	E9PCV0;P08236	.;BGLR_HUMAN	T	380;234;329	ENSP00000302728:A380T;ENSP00000391390:A234T;ENSP00000340734:A329T	ENSP00000302728:A380T	A	-	1	0	GUSB	65077054	0.977000	0.34250	0.491000	0.27477	0.684000	0.39900	1.059000	0.30517	-0.470000	0.06901	-0.397000	0.06425	GCT	-	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2		0.592	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	0	0		39	39		0.00		C	NM_000181		65439619	-1	13		58		tier1	no_errors	ENST00000304895	ensembl	human	known	74_37	missense	18.06		SNP	0.941	T	13	58
PRMT8	56341	genome.wustl.edu	37	12	3678670	3678670	+	Silent	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:3678670C>A	ENST00000382622.3	+	6	1042	c.652C>A	c.(652-654)Cgg>Agg	p.R218R	PRMT8_ENST00000452611.2_Silent_p.R209R|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	218	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				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)			GTTTCCAGACCGGGCAGCTTT	0.473													ENSG00000111218																																					0													143.0	126.0	132.0					12																	3678670		2203	4300	6503	SO:0001819	synonymous_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.652C>A	12.37:g.3678670C>A			B2RDP0|Q8TBJ8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tR_Trfase_Trm5/Tyw2	p.R218	ENST00000382622.3	37	c.652	CCDS8521.2	12																																																																																			-	PRMT8	-	pfam_Arg_MeTrfase		0.473	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	0	0		68	68		0.00		C	NM_019854		3678670	+1	15		47		tier1	no_errors	ENST00000382622	ensembl	human	known	74_37	silent	24.19		SNP	1.000	A	15	47
FAR2P1	440905	genome.wustl.edu	37	2	130748075	130748075	+	IGR	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr2:130748075G>T								RAB6C (7764 upstream) : AC018865.8 (36342 downstream)																							TGATCAGCTTGGGTGTGATCT	0.433													ENSG00000180178																																					0																																										SO:0001628	intergenic_variant	0			-																													2.37:g.130748075G>T				R	SNP	-	NULL		37	NULL		2																																																																																			-	AC018865.8	-	-	0	0.433					LOC440905	Clone_based_vega_gene			0	0		44	44		0.00		G			130748075	-1	11		20		tier1	no_errors	ENST00000440931	ensembl	human	known	74_37	rna	35.48		SNP	0.512	T	11	20
SETD3	84193	genome.wustl.edu	37	14	99865106	99865106	+	Silent	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr14:99865106G>T	ENST00000331768.5	-	13	1854	c.1695C>A	c.(1693-1695)tcC>tcA	p.S565S		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	565					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.S565S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTCATTTTCGGACCTGGTCC	0.463													ENSG00000183576																																					1	Substitution - coding silent(1)	large_intestine(1)											229.0	206.0	214.0					14																	99865106		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1695C>A	14.37:g.99865106G>T			A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Silent	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.S565	ENST00000331768.5	37	c.1695	CCDS9951.1	14																																																																																			-	SETD3	-	NULL		0.463	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3	0	0		59	59		0.00		G	NM_032233		99865106	-1	4		35		tier1	no_errors	ENST00000331768	ensembl	human	known	74_37	silent	10.00		SNP	0.000	T	4	35
SYNRG	11276	genome.wustl.edu	37	17	35902452	35902452	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:35902452T>C	ENST00000339208.6	-	15	2964	c.2824A>G	c.(2824-2826)Aca>Gca	p.T942A	SYNRG_ENST00000346661.4_Missense_Mutation_p.T942A|SYNRG_ENST00000345615.4_Missense_Mutation_p.T864A|SYNRG_ENST00000591288.1_Missense_Mutation_p.T736A|SYNRG_ENST00000502449.2_Missense_Mutation_p.T819A|SYNRG_ENST00000394378.2_Missense_Mutation_p.T864A|SYNRG_ENST00000585472.1_Missense_Mutation_p.T863A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	942					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGAGAGATGTCATGGTGATG	0.463													ENSG00000006114																																					0													121.0	119.0	120.0					17																	35902452		2203	4300	6503	SO:0001583	missense	0			-	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2824A>G	17.37:g.35902452T>C	ENSP00000343610:p.Thr942Ala		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.T942A	ENST00000339208.6	37	c.2824	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	T	8.573	0.880606	0.17467	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.45668	1.48;0.89	6.17	-0.578	0.11724	.	0.545864	0.20990	N	0.082050	T	0.17874	0.0429	N	0.19112	0.55	0.34930	D	0.749279	B;B;B;B;B;B	0.13594	0.008;0.007;0.007;0.007;0.003;0.003	B;B;B;B;B;B	0.15484	0.01;0.013;0.013;0.013;0.008;0.008	T	0.19128	-1.0315	10	0.09843	T	0.71	-1.0814	1.8714	0.03209	0.1318:0.3183:0.1292:0.4207	.	736;864;864;864;942;942	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	A	942;736;942;864;864	ENSP00000005279:T942A;ENSP00000377903:T864A	ENSP00000343610:T736A	T	-	1	0	SYNRG	32976565	0.999000	0.42202	0.790000	0.31976	0.656000	0.38851	0.326000	0.19646	-0.394000	0.07727	0.533000	0.62120	ACA	-	SYNRG	-	NULL		0.463	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	0	0		69	69		0.00		T	NM_007247		35902452	-1	15		76		tier1	no_errors	ENST00000339208	ensembl	human	known	74_37	missense	16.48		SNP	0.945	C	15	76
TDO2	6999	genome.wustl.edu	37	4	156835543	156835543	+	Silent	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr4:156835543G>C	ENST00000536354.2	+	8	859	c.795G>C	c.(793-795)ctG>ctC	p.L265L		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AGGTGCTACTGTCCTTATTTG	0.363													ENSG00000151790																									Colon(57;928 1036 2595 6946 26094)												0													117.0	120.0	119.0					4																	156835543		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.795G>C	4.37:g.156835543G>C				Silent	SNP	pfam_Trp_2_3_dOase	p.L265	ENST00000536354.2	37	c.795	CCDS34086.1	4																																																																																			-	TDO2	-	pfam_Trp_2_3_dOase		0.363	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	HGNC	protein_coding	OTTHUMT00000366209.3	0	0		46	46		0.00		G	NM_005651		156835543	+1	18		24		tier1	no_errors	ENST00000536354	ensembl	human	known	74_37	silent	42.86		SNP	0.428	C	18	24
LOC100288842	100288842	genome.wustl.edu	37	9	123560880	123560880	+	RNA	SNP	C	C	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr9:123560880C>A	ENST00000437707.1	+	0	400					NR_027442.1																						TCGGACTCACCAGTGGTGTTT	0.403													ENSG00000214654																																					0																																												0			-																													9.37:g.123560880C>A				R	SNP	-	NULL	ENST00000437707.1	37	NULL		9																																																																																			-	RP11-27I1.4	-	-		0.403	RP11-27I1.4-002	KNOWN	basic	processed_transcript	LOC100288842	Clone_based_vega_gene	pseudogene	OTTHUMT00000053832.1	0	0		48	48		0.00		C			123560880	+1	9		37		tier1	no_errors	ENST00000437707	ensembl	human	known	74_37	rna	19.57		SNP	1.000	A	9	37
BLVRB	645	genome.wustl.edu	37	19	40953796	40953796	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:40953796C>G	ENST00000263368.4	-	5	772	c.621G>C	c.(619-621)taG>taC	p.*207Y	BLVRB_ENST00000595483.1_Nonstop_Mutation_p.*164Y	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	0					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	GGACAGAGTGCTACTGGTACT	0.537													ENSG00000090013																																					0													140.0	116.0	124.0					19																	40953796		2203	4300	6503	SO:0001578	stop_lost	0			-	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.621G>C	19.37:g.40953796C>G			A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Nonstop_Mutation	SNP	pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	p.*207Y	ENST00000263368.4	37	c.621	CCDS33029.1	19	.	.	.	.	.	.	.	.	.	.	C	13.50	2.257034	0.39896	.	.	ENSG00000090013	ENST00000263368	.	.	.	5.49	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9278	0.52829	0.0:0.9152:0.0:0.0848	.	.	.	.	Y	207	.	.	X	-	3	2	BLVRB	45645636	0.936000	0.31750	0.941000	0.38009	0.505000	0.33919	2.605000	0.46283	1.320000	0.45209	0.462000	0.41574	TAG	-	BLVRB	-	NULL		0.537	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLVRB	HGNC	protein_coding	OTTHUMT00000462563.1	0	0		46	46		0.00		C			40953796	-1	8		64		tier1	no_errors	ENST00000263368	ensembl	human	known	74_37	nonstop	11.11		SNP	0.967	G	8	64
NLRP4	147945	genome.wustl.edu	37	19	56369480	56369480	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:56369480A>C	ENST00000301295.6	+	3	1143	c.721A>C	c.(721-723)Aac>Cac	p.N241H	NLRP4_ENST00000346986.5_Missense_Mutation_p.N241H|NLRP4_ENST00000587891.1_Missense_Mutation_p.N166H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	241	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGGCGGCTTGAACGAACCCGA	0.567													ENSG00000160505																																					0													81.0	83.0	82.0					19																	56369480		2203	4300	6503	SO:0001583	missense	0			-	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.721A>C	19.37:g.56369480A>C	ENSP00000301295:p.Asn241His		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN	p.N241H	ENST00000301295.6	37	c.721	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	A	15.18	2.756834	0.49362	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.78707	-1.2;-1.2	3.95	-4.24	0.03777	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.65964	0.2742	N	0.14661	0.345	0.09310	N	1	P;D;D	0.60575	0.575;0.985;0.988	B;P;P	0.58077	0.312;0.741;0.832	T	0.56763	-0.7925	9	0.38643	T	0.18	.	1.9779	0.03420	0.3715:0.1338:0.3563:0.1385	.	241;166;241	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	241	ENSP00000301295:N241H;ENSP00000344787:N241H	ENSP00000301295:N241H	N	+	1	0	NLRP4	61061292	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.536000	0.06135	-1.295000	0.02357	0.533000	0.62120	AAC	-	NLRP4	-	superfamily_P-loop_NTPase,pfscan_CHT_NTPase		0.567	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	0	0		66	66		0.00		A	NM_134444		56369480	+1	20		106		tier1	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	15.87		SNP	0.000	C	20	106
TTC23	64927	genome.wustl.edu	37	15	99674046	99674047	+	IGR	INS	-	-	TTCTGTTATAGCCTAAG	rs34611478|rs376092037|rs11269259	byFrequency	TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:99674046_99674047insTTCTGTTATAGCCTAAG	ENST00000394132.2	-	0	3849				SYNM_ENST00000336292.6_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_3'UTR|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_3'UTR			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23											endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGAATGCCCTTTTCTGGAGTGG	0.465													ENSG00000182253		1385	0.276558	0.5333	0.2608	5008	,	,		21485	0.0992		0.2127	False		,,,				2504	0.1892																0																																										SO:0001628	intergenic_variant	0					CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344		15.37:g.99674046_99674047insTTCTGTTATAGCCTAAG			A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	R	INS	-	NULL	ENST00000394132.2	37	NULL	CCDS10379.2	15																																																																																				SYNM	-	-		0.465	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000303953.2									-	NM_022905		99674047	+1					tier1	no_errors	ENST00000558420	ensembl	human	known	74_37	rna			INS	0.000:0.001	TTCTGTTATAGCCTAAG		
MEGF6	1953	genome.wustl.edu	37	1	3412562	3412562	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:3412562C>T	ENST00000356575.4	-	30	3989	c.3763G>A	c.(3763-3765)Ggc>Agc	p.G1255S	MEGF6_ENST00000294599.4_Missense_Mutation_p.G1020S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1255	EGF-like 23. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGTTGGGGCCGAAGCGGCCC	0.721													ENSG00000162591																									Ovarian(73;978 3658)												0													6.0	7.0	7.0					1																	3412562		1873	4030	5903	SO:0001583	missense	0			-	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3763G>A	1.37:g.3412562C>T	ENSP00000348982:p.Gly1255Ser		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G1255S	ENST00000356575.4	37	c.3763	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572688	0.65765	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.85955	-2.05;-2.05	4.49	4.49	0.54785	Epidermal growth factor-like, type 3 (1);	0.124538	0.53938	D	0.000060	D	0.93772	0.8009	H	0.96239	3.79	0.48830	D	0.99971	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.93337	0.6706	10	0.33940	T	0.23	-26.5209	10.6343	0.45556	0.0:0.9109:0.0:0.089	.	1255;1020	O75095;O75095-2	MEGF6_HUMAN;.	S	1020;1255	ENSP00000294599:G1020S;ENSP00000348982:G1255S	ENSP00000294599:G1020S	G	-	1	0	MEGF6	3402422	0.978000	0.34361	0.823000	0.32752	0.349000	0.29174	3.158000	0.50723	2.334000	0.79466	0.555000	0.69702	GGC	-	MEGF6	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin		0.721	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	0	0		175	175		0.00		C	NM_001409		3412562	-1	51		142		tier1	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	26.42		SNP	1.000	T	51	142
PKLR	5313	genome.wustl.edu	37	1	155265486	155265486	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:155265486C>T	ENST00000342741.4	-	3	383	c.345G>A	c.(343-345)gcG>gcA	p.A115A	PKLR_ENST00000392414.3_Silent_p.A84A	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	115			A -> P (in PKRD; Val de Marne).		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGTTGAGTCGCGCAATGTTCA	0.642													ENSG00000143627																																					0													115.0	92.0	100.0					1																	155265486		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.345G>A	1.37:g.155265486C>T			O75758|P11973	Silent	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.A115	ENST00000342741.4	37	c.345	CCDS1109.1	1																																																																																			-	PKLR	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase		0.642	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	0	0		47	47		0.00		C	NM_000298		155265486	-1	11		37		tier1	no_errors	ENST00000342741	ensembl	human	known	74_37	silent	22.92		SNP	0.915	T	11	37
F10	2159	genome.wustl.edu	37	13	113803498	113803498	+	Silent	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr13:113803498G>A	ENST00000375559.3	+	8	1172	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	378	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	CCAGGCTCAAGATGCTGGAGG	0.622													ENSG00000126218																																					0													41.0	42.0	41.0					13																	113803498		2203	4299	6502	SO:0001819	synonymous_variant	0			-		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1134G>A	13.37:g.113803498G>A			Q14340	Silent	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.K378	ENST00000375559.3	37	c.1134	CCDS9530.1	13																																																																																			-	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.622	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	0	0		45	45		0.00		G			113803498	+1	21		29		tier1	no_errors	ENST00000375559	ensembl	human	known	74_37	silent	42.00		SNP	1.000	A	21	29
PCDHA1	56147	genome.wustl.edu	37	5	140166038	140166038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:140166038G>T	ENST00000504120.2	+	1	163	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PCDHA1_ENST00000394633.3_Nonsense_Mutation_p.E55*|PCDHA1_ENST00000378133.3_Nonsense_Mutation_p.E55*	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGACTGGAGCTGGCGGA	0.607													ENSG00000204970																																					0													55.0	61.0	59.0					5																	140166038		2203	4300	6503	SO:0001587	stop_gained	0			-	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.163G>T	5.37:g.140166038G>T	ENSP00000420840:p.Glu55*		O75288|Q9NRT7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E55*	ENST00000504120.2	37	c.163	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	21.6	4.173107	0.78452	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	.	.	.	4.46	3.57	0.40892	.	0.000000	0.43416	U	0.000565	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1243	0.59344	0.0:0.3082:0.6918:0.0	.	.	.	.	X	55	.	ENSP00000367373:E55X	E	+	1	0	PCDHA1	140146222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.182000	0.50910	0.973000	0.38340	0.603000	0.83216	GAG	-	PCDHA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.607	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	0	0		66	66		0.00		G	NM_018900		140166038	+1	23		72		tier1	no_errors	ENST00000504120	ensembl	human	known	74_37	nonsense	24.21		SNP	1.000	T	23	72
SHANK1	50944	genome.wustl.edu	37	19	51219979	51219979	+	Silent	SNP	G	G	A	rs545121253		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000391814.1_Silent_p.D66D|SHANK1_ENST00000359082.3_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D66D(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTGGGCGTCGTCTGGGACGG	0.672													ENSG00000161681																																					2	Substitution - coding silent(2)	prostate(1)|kidney(1)											81.0	68.0	72.0					19																	51219979		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.198C>T	19.37:g.51219979G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D66	ENST00000293441.1	37	c.198	CCDS12799.1	19																																																																																			-	SHANK1	-	NULL		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	0	0		43	43		0.00		G	NM_016148		51219979	-1	7		42		tier1	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	14.29		SNP	1.000	A	7	42
KIAA2013	90231	genome.wustl.edu	37	1	11982747	11982747	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11982747C>G	ENST00000376572.3	-	2	2018	c.1833G>C	c.(1831-1833)aaG>aaC	p.K611N	KIAA2013_ENST00000376576.3_Missense_Mutation_p.K611N	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	611						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTAGATGAGCTTGAAGAGGA	0.597													ENSG00000116685																																					0													32.0	32.0	32.0					1																	11982747		2203	4300	6503	SO:0001583	missense	0			-	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1833G>C	1.37:g.11982747C>G	ENSP00000365756:p.Lys611Asn		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	pfam_DUF2152	p.K611N	ENST00000376572.3	37	c.1833	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174122	0.57692	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.82	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.70784	-0.4778	9	0.87932	D	0	-25.2767	6.746	0.23462	0.0:0.6253:0.0:0.3746	.	611;611	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	N	611	.	ENSP00000365756:K611N	K	-	3	2	KIAA2013	11905334	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.519000	0.22862	1.447000	0.47661	0.650000	0.86243	AAG	-	KIAA2013	-	pfam_DUF2152		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	0	0		59	59		0.00		C	NM_138346		11982747	-1	9		47		tier1	no_errors	ENST00000376576	ensembl	human	known	74_37	missense	16.07		SNP	1.000	G	9	47
GAPT	202309	genome.wustl.edu	37	5	57790369	57790369	+	Silent	SNP	G	G	A	rs201851075		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:57790369G>A	ENST00000396776.2	+	3	468	c.6G>A	c.(4-6)tcG>tcA	p.S2S	GAPT_ENST00000318469.2_Silent_p.S2S	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	2					B cell activation (GO:0042113)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAGAAATGTCGAAAAGCTGTG	0.368													ENSG00000175857	G|||	1	0.000199681	0.0	0.0	5008	,	,		18963	0.001		0.0	False		,,,				2504	0.0																0													83.0	84.0	83.0					5																	57790369		2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	AK090960	CCDS3975.1	5q11.2	2011-11-01	2008-10-07	2008-10-07	ENSG00000175857	ENSG00000175857			26588	protein-coding gene	gene with protein product	"""GRB2-binding transmembrane adaptor"""		"""chromosome 5 open reading frame 29"""	C5orf29			Standard	NM_152687		Approved	FLJ33641	uc003jro.1	Q8N292	OTTHUMG00000131219	ENST00000396776.2:c.6G>A	5.37:g.57790369G>A				Silent	SNP	pfam_Protein_GAPT	p.S2	ENST00000396776.2	37	c.6	CCDS3975.1	5																																																																																			rs201851075	GAPT	-	pfam_Protein_GAPT		0.368	GAPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPT	HGNC	protein_coding	OTTHUMT00000253963.1	0	0		79	79		0.00		G	NM_152687		57790369	+1	31		56		tier1	no_errors	ENST00000318469	ensembl	human	known	74_37	silent	35.63		SNP	0.006	A	31	56
NUTM2D	728130	genome.wustl.edu	37	10	89127109	89127109	+	IGR	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr10:89127109C>G	ENST00000381697.2	+	0	3290				NUTM2D_ENST00000412718.1_Missense_Mutation_p.P552A			Q5VT03	NTM2D_HUMAN	NUT family member 2D																		TTCAGATGCTCCAGGGACTGA	0.622													ENSG00000214562																																					0													12.0	14.0	13.0					10																	89127109		1603	3541	5144	SO:0001628	intergenic_variant	0			-			10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672		10.37:g.89127109C>G			A6NGV9	Missense_Mutation	SNP	NULL	p.P552A	ENST00000381697.2	37	c.1654		10	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574700	0.13623	.	.	ENSG00000214562	ENST00000412718	T	0.21734	1.99	1.25	0.205	0.15204	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.09310	N	0.999997	B	0.30211	0.273	B	0.19148	0.024	T	0.24799	-1.0150	8	0.51188	T	0.08	.	2.9239	0.05778	0.0:0.6482:0.0:0.3518	.	552	Q5VT03-2	.	A	552	ENSP00000396080:P552A	ENSP00000396080:P552A	P	+	1	0	FAM22D	89117089	0.011000	0.17503	0.360000	0.25837	0.316000	0.28119	0.034000	0.13776	0.600000	0.29862	0.186000	0.17326	CCA	-	NUTM2D	-	NULL		0.622	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	NUTM2D	HGNC	protein_coding	OTTHUMT00000470142.1	0	0		148	148		0.00		C	NR_075100		89127109	+1	30		94		tier1	no_errors	ENST00000412718	ensembl	human	novel	74_37	missense	24.19		SNP	0.147	G	30	94
TRPC7	57113	genome.wustl.edu	37	5	135692859	135692859	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:135692859A>T	ENST00000513104.1	-	2	499	c.217T>A	c.(217-219)Tgt>Agt	p.C73S	TRPC7_ENST00000426057.2_Missense_Mutation_p.C73S|TRPC7_ENST00000355180.3_Missense_Mutation_p.C73S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	73					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGTCCACACAGTTGAAGTTA	0.597													ENSG00000069018																																					0													88.0	99.0	96.0					5																	135692859		2194	4296	6490	SO:0001583	missense	0			-	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.217T>A	5.37:g.135692859A>T	ENSP00000426070:p.Cys73Ser		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.C73S	ENST00000513104.1	37	c.217	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.308281|4.308281	0.81247|0.81247	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	T;T;T|.	0.69685|.	-0.42;-0.42;-0.42|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60495|0.60495	0.2273|0.2273	L|L	0.42632|0.42632	1.34|1.34	0.43263|0.43263	D|D	0.995206|0.995206	D;D;D;P|.	0.64830|.	0.968;0.987;0.994;0.874|.	D;P;D;P|.	0.69824|.	0.966;0.73;0.964;0.824|.	T|T	0.57768|0.57768	-0.7754|-0.7754	10|5	0.59425|.	D|.	0.04|.	-17.8693|-17.8693	14.9085|14.9085	0.70737|0.70737	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	73;73;73;73|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	S|Q	73|72	ENSP00000347312:C73S;ENSP00000441628:C73S;ENSP00000426070:C73S|.	ENSP00000265193:C73S|.	C|L	-|-	1|2	0|0	TRPC7|TRPC7	135720758|135720758	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.002000|6.002000	0.70693|0.70693	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	TGT|CTG	-	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.597	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	0	0		39	39		0.00		A	NM_020389		135692859	-1	6		54		tier1	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	10.00		SNP	1.000	T	6	54
MGA	23269	genome.wustl.edu	37	15	41988903	41988903	+	Silent	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr15:41988903A>T	ENST00000570161.1	+	2	1695	c.1695A>T	c.(1693-1695)atA>atT	p.I565I	MGA_ENST00000219905.7_Silent_p.I565I|MGA_ENST00000545763.1_Silent_p.I565I|MGA_ENST00000566586.1_Silent_p.I565I|MGA_ENST00000389936.4_Silent_p.I565I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGAAAGAATACTCGACGATT	0.413													ENSG00000174197																																					0													63.0	57.0	59.0					15																	41988903		1867	4114	5981	SO:0001819	synonymous_variant	0			-	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1695A>T	15.37:g.41988903A>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_D-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.I565	ENST00000570161.1	37	c.1695	CCDS55959.1	15																																																																																			-	MGA	-	NULL		0.413	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	0	0		15	15		0.00		A	NM_001164273.1		41988903	+1	5		23		tier1	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	17.86		SNP	0.000	T	5	23
ZZEF1	23140	genome.wustl.edu	37	17	4027291	4027291	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:4027291A>C	ENST00000381638.2	-	2	533	c.409T>G	c.(409-411)Ttg>Gtg	p.L137V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	137	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGCCTCCAACATGTTCTCG	0.502													ENSG00000074755																																					0													121.0	95.0	104.0					17																	4027291		2203	4300	6503	SO:0001583	missense	0			-	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.409T>G	17.37:g.4027291A>C	ENSP00000371051:p.Leu137Val		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.L137V	ENST00000381638.2	37	c.409	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677140	0.68042	.	.	ENSG00000074755	ENST00000381638	T	0.43294	0.95	4.9	-7.99	0.01131	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	M	0.64997	1.995	0.48087	D	0.99958	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.68465	-0.5401	10	0.87932	D	0	-7.9101	14.1311	0.65255	0.4316:0.0:0.5684:0.0	.	137;137	O43149-3;O43149	.;ZZEF1_HUMAN	V	137	ENSP00000371051:L137V	ENSP00000371051:L137V	L	-	1	2	ZZEF1	3974040	0.998000	0.40836	0.855000	0.33649	0.815000	0.46073	0.478000	0.22212	-1.633000	0.01539	-1.032000	0.02404	TTG	-	ZZEF1	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.502	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	0	0		82	82		0.00		A	NM_015113		4027291	-1	17		110		tier1	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	13.39		SNP	0.944	C	17	110
MED17	9440	genome.wustl.edu	37	11	93529663	93529663	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:93529663A>T	ENST00000251871.3	+	7	1387	c.1100A>T	c.(1099-1101)cAc>cTc	p.H367L	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	367					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGGAGGACCACCTTTATGTC	0.378													ENSG00000042429																																					0													163.0	157.0	159.0					11																	93529663		2201	4298	6499	SO:0001583	missense	0			-	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1100A>T	11.37:g.93529663A>T	ENSP00000251871:p.His367Leu		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	pfam_Mediator_Med17	p.H367L	ENST00000251871.3	37	c.1100	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669742	0.67814	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.52295	0.67	6.06	6.06	0.98353	.	0.094194	0.64402	D	0.000001	T	0.48114	0.1482	M	0.64404	1.975	0.80722	D	1	B	0.27013	0.166	B	0.28916	0.096	T	0.39482	-0.9612	10	0.21540	T	0.41	-26.1738	16.6093	0.84858	1.0:0.0:0.0:0.0	.	367	Q9NVC6	MED17_HUMAN	L	367;337	ENSP00000251871:H367L	ENSP00000251871:H367L	H	+	2	0	MED17	93169311	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.417000	0.80156	2.324000	0.78689	0.533000	0.62120	CAC	-	MED17	-	pfam_Mediator_Med17		0.378	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	0	0		64	64		0.00		A	NM_004268		93529663	+1	16		54		tier1	no_errors	ENST00000251871	ensembl	human	known	74_37	missense	22.86		SNP	1.000	T	16	54
MYH4	4622	genome.wustl.edu	37	17	10346789	10346789	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:10346789T>C	ENST00000255381.2	-	40	5833	c.5723A>G	c.(5722-5724)gAg>gGg	p.E1908G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1908					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGGCCTCCTCCAGCTCGTG	0.468													ENSG00000264424																																					0													128.0	118.0	121.0					17																	10346789		2203	4300	6503	SO:0001583	missense	0			-		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5723A>G	17.37:g.10346789T>C	ENSP00000255381:p.Glu1908Gly			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1908G	ENST00000255381.2	37	c.5723	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705864	0.89018	.	.	ENSG00000141048	ENST00000255381	D	0.85013	-1.93	5.19	5.19	0.71726	Myosin tail (1);	0.000000	0.37577	U	0.002023	D	0.89605	0.6763	M	0.87547	2.89	0.58432	D	0.999999	B	0.32507	0.373	B	0.41202	0.35	D	0.90518	0.4486	10	0.72032	D	0.01	.	15.5124	0.75793	0.0:0.0:0.0:1.0	.	1908	Q9Y623	MYH4_HUMAN	G	1908	ENSP00000255381:E1908G	ENSP00000255381:E1908G	E	-	2	0	MYH4	10287514	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.825000	0.86693	2.311000	0.77944	0.533000	0.62120	GAG	-	MYH4	-	pfam_Myosin_tail		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	0	0		99	99		0.00		T	NM_017533		10346789	-1	33		112		tier1	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	22.76		SNP	1.000	C	33	112
IBTK	25998	genome.wustl.edu	37	6	82911138	82911138	+	Splice_Site	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:82911138C>T	ENST00000306270.7	-	19	3340		c.e19+1		IBTK_ENST00000510291.1_Splice_Site|IBTK_ENST00000503631.1_Splice_Site	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATAAACCTTACCATTTTCCGG	0.313													ENSG00000005700																																					0													65.0	58.0	60.0					6																	82911138		2202	4297	6499	SO:0001630	splice_region_variant	0			-	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2790+1G>A	6.37:g.82911138C>T			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Splice_Site	SNP	-	e18+1	ENST00000306270.7	37	c.2790+1	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086025	0.76642	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6356	0.95731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IBTK	82967857	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	6.977000	0.76141	2.638000	0.89438	0.585000	0.79938	.	-	IBTK	-	-		0.313	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	0	0		22	22		0.00		C	NM_015525	Intron	82911138	-1	6		12		tier1	no_errors	ENST00000306270	ensembl	human	known	74_37	splice_site	33.33		SNP	1.000	T	6	12
IFNL2	282616	genome.wustl.edu	37	19	39759837	39759837	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:39759837T>A	ENST00000331982.5	+	3	293	c.238T>A	c.(238-240)Ttc>Atc	p.F80I		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	80					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CTCCCGCCTCTTCCCCAGGAC	0.637													ENSG00000183709																																					0													18.0	23.0	21.0					19																	39759837		2201	4299	6500	SO:0001583	missense	0			-	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.238T>A	19.37:g.39759837T>A	ENSP00000333639:p.Phe80Ile		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.F80I	ENST00000331982.5	37	c.238	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	t	14.09	2.430528	0.43122	.	.	ENSG00000183709	ENST00000331982	T	0.34472	1.36	3.13	2.1	0.27182	.	0.094127	0.47093	D	0.000246	T	0.52419	0.1733	M	0.83223	2.63	0.31226	N	0.696837	D	0.71674	0.998	D	0.63192	0.912	T	0.55891	-0.8069	10	0.49607	T	0.09	-16.2082	5.0893	0.14700	0.0:0.144:0.0:0.856	.	80	Q8IZJ0	IL28A_HUMAN	I	80	ENSP00000333639:F80I	ENSP00000333639:F80I	F	+	1	0	IL28A	44451677	0.941000	0.31946	0.796000	0.32109	0.323000	0.28346	1.184000	0.32053	0.427000	0.26145	0.248000	0.18094	TTC	-	IFNL2	-	NULL		0.637	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1	0	0		41	41		0.00		T	NM_172138		39759837	+1	11		56		tier1	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	16.42		SNP	0.849	A	11	56
KIAA1919	91749	genome.wustl.edu	37	6	111587418	111587418	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:111587418C>G	ENST00000368847.4	+	4	1006	c.653C>G	c.(652-654)gCt>gGt	p.A218G		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	218					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGAGCATCTGCTGAGACATTT	0.353													ENSG00000173214																																					0													95.0	88.0	90.0					6																	111587418		2203	4300	6503	SO:0001583	missense	0			-	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.653C>G	6.37:g.111587418C>G	ENSP00000357840:p.Ala218Gly		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A218G	ENST00000368847.4	37	c.653	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	C	4.801	0.148892	0.09185	.	.	ENSG00000173214	ENST00000368847	T	0.57907	0.37	5.85	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);	0.349224	0.33591	N	0.004753	T	0.27967	0.0689	L	0.59436	1.845	0.09310	N	1	B	0.15473	0.013	B	0.24848	0.056	T	0.14504	-1.0470	10	0.30078	T	0.28	-16.6107	7.9018	0.29740	0.1305:0.7327:0.0:0.1369	.	218	Q5TF39	NAGT1_HUMAN	G	218	ENSP00000357840:A218G	ENSP00000357840:A218G	A	+	2	0	KIAA1919	111694111	0.000000	0.05858	0.030000	0.17652	0.110000	0.19582	0.019000	0.13444	1.484000	0.48361	-0.163000	0.13421	GCT	-	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.353	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	0	0		73	73		0.00		C	NM_153369		111587418	+1	10		55		tier1	no_errors	ENST00000368847	ensembl	human	known	74_37	missense	15.38		SNP	0.069	G	10	55
RYR1	6261	genome.wustl.edu	37	19	38990310	38990310	+	Missense_Mutation	SNP	C	C	T	rs193922803		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:38990310C>T	ENST00000359596.3	+	44	7063	c.7063C>T	c.(7063-7065)Cgg>Tgg	p.R2355W	RYR1_ENST00000355481.4_Missense_Mutation_p.R2355W|RYR1_ENST00000360985.3_Missense_Mutation_p.R2355W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2355	6 X approximate repeats.		R -> C (in MHS1). {ECO:0000269|PubMed:12123492}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTGGTGGTGCGGCTGCTCAT	0.667													ENSG00000196218																																					0			GRCh37	CM021676	RYR1	M							43.0	37.0	39.0					19																	38990310		2203	4300	6503	SO:0001583	missense	0			-	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7063C>T	19.37:g.38990310C>T	ENSP00000352608:p.Arg2355Trp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R2355W	ENST00000359596.3	37	c.7063	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059410	0.55325	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96011	-3.88;-3.88;-3.88	3.99	3.99	0.46301	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000003	D	0.96574	0.8882	M	0.62723	1.935	0.40155	D	0.976997	D;D	0.89917	1.0;0.999	D;D	0.68483	0.958;0.934	D	0.97021	0.9743	10	0.87932	D	0	.	12.2169	0.54412	0.1708:0.8291:0.0:0.0	.	2355;2355	P21817-2;P21817	.;RYR1_HUMAN	W	2355	ENSP00000352608:R2355W;ENSP00000347667:R2355W;ENSP00000354254:R2355W	ENSP00000347667:R2355W	R	+	1	2	RYR1	43682150	0.981000	0.34729	1.000000	0.80357	0.952000	0.60782	1.240000	0.32731	2.045000	0.60652	0.297000	0.19635	CGG	rs193922803	RYR1	-	pfam_Ca-rel_channel		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	0	0		37	37		0.00		C			38990310	+1	27		23		tier1	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	52.94		SNP	1.000	T	27	23
RASAL1	8437	genome.wustl.edu	37	12	113539812	113539812	+	Missense_Mutation	SNP	C	C	T	rs200091326		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr12:113539812C>T	ENST00000261729.5	-	20	2419	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T	RASAL1_ENST00000546530.1_Missense_Mutation_p.A704T|RASAL1_ENST00000446861.3_Missense_Mutation_p.A674T|RASAL1_ENST00000548055.1_Missense_Mutation_p.A703T|RASAL1_ENST00000418411.2_5'Flank			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	702					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGCAGCCGGCGGCTGAGGGA	0.592													ENSG00000111344	c|||	1	0.000199681	0.0	0.0	5008	,	,		17597	0.0		0.001	False		,,,				2504	0.0																0									THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	81.0	74.0	76.0		2110,2020,2104	0.6	0.1	12		76	6,8594	4.3+/-15.6	0,6,4294	yes	missense,missense,missense	RASAL1	NM_001193520.1,NM_001193521.1,NM_004658.2	58,58,58	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign,benign,benign	704/807,674/777,702/805	113539812	6,13000	2203	4300	6503	SO:0001583	missense	0			-	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2104G>A	12.37:g.113539812C>T	ENSP00000261729:p.Ala702Thr		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.A704T	ENST00000261729.5	37	c.2110	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	c	10.56	1.385304	0.25031	0.0	6.98E-4	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.06	0.615	0.17608	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.972530	0.08472	N	0.940903	D	0.83326	0.5230	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.19200	0.034;0.02;0.025;0.034	B;B;B;B	0.16289	0.01;0.009;0.015;0.01	T	0.67891	-0.5553	10	0.18276	T	0.48	.	10.285	0.43562	0.123:0.2503:0.6266:0.0	.	703;704;702;674	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	T	704;702;674;703	ENSP00000450244:A704T;ENSP00000261729:A702T;ENSP00000395920:A674T;ENSP00000448510:A703T	ENSP00000261729:A702T	A	-	1	0	RASAL1	112024195	0.000000	0.05858	0.091000	0.20842	0.263000	0.26337	0.016000	0.13377	0.106000	0.17784	0.556000	0.70494	GCC	rs200091326	RASAL1	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif		0.592	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	0	0		65	65		0.00		C	NM_004658		113539812	-1	16		69		tier1	no_errors	ENST00000546530	ensembl	human	known	74_37	missense	18.82		SNP	0.004	T	16	69
TXLNB	167838	genome.wustl.edu	37	6	139564104	139564104	+	Silent	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr6:139564104G>C	ENST00000358430.3	-	10	1846	c.1614C>G	c.(1612-1614)ctC>ctG	p.L538L	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	538						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGGCTCCTTGAGAGCGGCGT	0.562													ENSG00000164440																																					0													70.0	77.0	74.0					6																	139564104		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1614C>G	6.37:g.139564104G>C			Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	pfam_Taxilin_fam	p.L538	ENST00000358430.3	37	c.1614	CCDS34545.1	6																																																																																			-	TXLNB	-	NULL		0.562	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	0	0		46	46		0.00		G	NM_153235		139564104	-1	11		51		tier1	no_errors	ENST00000358430	ensembl	human	known	74_37	silent	17.74		SNP	0.000	C	11	51
PLEKHA7	144100	genome.wustl.edu	37	11	16810669	16810669	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr11:16810669G>A	ENST00000355661.3	-	23	3341	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R1111W|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R1112W|PLEKHA7_ENST00000532079.1_3'UTR			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	1111					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGAGCGGCCGGCTGAGGTAG	0.662													ENSG00000166689																																					0													49.0	44.0	46.0					11																	16810669		2200	4294	6494	SO:0001583	missense	0			-	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.3331C>T	11.37:g.16810669G>A	ENSP00000347883:p.Arg1111Trp		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.R1112W	ENST00000355661.3	37	c.3334	CCDS31434.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251712	0.80135	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.10477	2.94;2.87;2.87	5.81	5.81	0.92471	.	0.800820	0.11677	N	0.540170	T	0.29684	0.0741	M	0.72894	2.215	0.40988	D	0.98483	D;D;D;D;B	0.67145	0.996;0.987;0.99;0.996;0.008	P;B;B;P;B	0.56398	0.702;0.394;0.425;0.797;0.003	T	0.00891	-1.1525	10	0.87932	D	0	-0.4262	15.7285	0.77784	0.0:0.0:0.8552:0.1448	.	686;1111;1111;1112;228	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	W	1111;1111;1112	ENSP00000435389:R1111W;ENSP00000347883:R1111W;ENSP00000416895:R1112W	ENSP00000347883:R1111W	R	-	1	2	PLEKHA7	16767245	1.000000	0.71417	0.984000	0.44739	0.918000	0.54935	3.405000	0.52630	2.745000	0.94114	0.655000	0.94253	CGG	-	PLEKHA7	-	NULL		0.662	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	0	0		22	22		0.00		G	NM_175058		16810669	-1	4		18		tier1	no_errors	ENST00000448080	ensembl	human	known	74_37	missense	17.39		SNP	1.000	A	4	18
CDH26	60437	genome.wustl.edu	37	20	58571109	58571109	+	Splice_Site	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr20:58571109G>A	ENST00000244047.5	+	12	2199	c.1888G>A	c.(1888-1890)Gtg>Atg	p.V630M	CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Splice_Site_p.V630M|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	630					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGCTCTGGCAGGTCAGTGGTC	0.622													ENSG00000124215																																					0													85.0	72.0	76.0					20																	58571109		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1888+1G>A	20.37:g.58571109G>A			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V630M	ENST00000244047.5	37	c.1888		20	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151644	0.38021	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61742	0.08;0.2	4.06	4.06	0.47325	.	0.643972	0.13764	N	0.364361	T	0.62563	0.2438	L	0.42245	1.32	0.33891	D	0.637349	D;D	0.60575	0.987;0.988	P;P	0.58391	0.735;0.838	T	0.70234	-0.4928	10	0.56958	D	0.05	.	9.5739	0.39445	0.0:0.0:0.7905:0.2094	.	630;630	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	M	630	ENSP00000244047:V630M;ENSP00000339390:V630M	ENSP00000244047:V630M	V	+	1	0	CDH26	58004504	1.000000	0.71417	0.818000	0.32626	0.307000	0.27823	1.940000	0.40223	1.979000	0.57680	0.655000	0.94253	GTG	-	CDH26	-	NULL		0.622	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		0	0		76	76		0.00		G	NM_177980	Missense_Mutation	58571109	+1	16		106		tier1	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	13.11		SNP	0.992	A	16	106
SYT6	148281	genome.wustl.edu	37	1	114641799	114641799	+	Silent	SNP	G	G	C			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:114641799G>C	ENST00000610222.1	-	5	1427	c.1281C>G	c.(1279-1281)gtC>gtG	p.V427V	SYT6_ENST00000609117.1_Silent_p.V342V|SYT6_ENST00000607941.1_Silent_p.V342V|SYT6_ENST00000369547.1_Silent_p.V342V|SYT6_ENST00000393296.1_Silent_p.V427V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	427	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCATTGTAGACAGGATTGA	0.473													ENSG00000134207																																					0													295.0	228.0	251.0					1																	114641799		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1281C>G	1.37:g.114641799G>C			B1AMB8|B3KPK1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.V427	ENST00000610222.1	37	c.1281		1																																																																																			-	SYT6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.473	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	0	0		183	183		0.00		G	NM_205848		114641799	-1	30		143		tier1	no_errors	ENST00000393296	ensembl	human	known	74_37	silent	17.34		SNP	1.000	C	30	143
HIGD1B	51751	genome.wustl.edu	37	17	42926715	42926715	+	Missense_Mutation	SNP	G	G	A	rs142682593		TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:42926715G>A	ENST00000253410.2	+	2	445	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	HIGD1B_ENST00000587021.1_Intron|HIGD1B_ENST00000591513.1_Missense_Mutation_p.R65Q	NM_016438.2	NP_057522.1	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B	65	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Prostate(33;0.109)				ATTCACACCCGAGTGGCAGCG	0.547													ENSG00000131097																																					0													95.0	85.0	88.0					17																	42926715		2203	4300	6503	SO:0001583	missense	0			-	AB038021	CCDS11488.1	17q21.31	2009-03-17	2009-03-17			ENSG00000131097			24318	protein-coding gene	gene with protein product			"""HIG1 domain family, member 1B"""			12477932	Standard	NM_016438		Approved	CLST11240, CLST11240-15	uc031rau.1	Q9P298		ENST00000253410.2:c.194G>A	17.37:g.42926715G>A	ENSP00000253410:p.Arg65Gln		D3DX57|Q9P297	Missense_Mutation	SNP	pfam_Hypoxia_induced_domain	p.R65Q	ENST00000253410.2	37	c.194	CCDS11488.1	17	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611673	0.87258	.	.	ENSG00000131097	ENST00000253410	T	0.62232	0.04	5.25	5.25	0.73442	Hypoxia induced protein, domain (2);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82965	-0.0195	9	0.87932	D	0	-50.1571	17.7713	0.88493	0.0:0.0:1.0:0.0	.	65	Q9P298	HIG1B_HUMAN	Q	65	ENSP00000253410:R65Q	ENSP00000253410:R65Q	R	+	2	0	HIGD1B	40282241	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	6.875000	0.75551	2.744000	0.94065	0.561000	0.74099	CGA	-	HIGD1B	-	pfam_Hypoxia_induced_domain		0.547	HIGD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIGD1B	HGNC	protein_coding	OTTHUMT00000448669.1	0	0		60	60		0.00		G	NM_016438		42926715	+1	16		68		tier1	no_errors	ENST00000253410	ensembl	human	known	74_37	missense	19.05		SNP	1.000	A	16	68
MARCH6	10299	genome.wustl.edu	37	5	10403604	10403604	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr5:10403604G>A	ENST00000274140.5	+	15	1415	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	MARCH6_ENST00000503788.1_Missense_Mutation_p.G323E|MARCH6_ENST00000449913.2_Missense_Mutation_p.G380E|MARCH6_ENST00000510792.1_Missense_Mutation_p.G126E	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	428					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGCTAGTGGGAATGGTATAT	0.423													ENSG00000145495																																					0													170.0	150.0	157.0					5																	10403604		2203	4300	6503	SO:0001583	missense	0			-	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1283G>A	5.37:g.10403604G>A	ENSP00000274140:p.Gly428Glu		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.G428E	ENST00000274140.5	37	c.1283	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.205092	0.95033	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75903	0.3913	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.82900	-0.0228	10	0.87932	D	0	-19.1574	19.4918	0.95052	0.0:0.0:1.0:0.0	.	323;380;8;428	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	E	380;323;428;126	ENSP00000414643:G380E;ENSP00000425930:G323E;ENSP00000274140:G428E;ENSP00000424512:G126E	ENSP00000274140:G428E	G	+	2	0	MARCH6	10456604	1.000000	0.71417	0.975000	0.42487	0.993000	0.82548	9.505000	0.97989	2.616000	0.88540	0.557000	0.71058	GGA	-	MARCH6	-	NULL		0.423	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	0	0		45	45		0.00		G	NM_005885		10403604	+1	31		106		tier1	no_errors	ENST00000274140	ensembl	human	known	74_37	missense	22.63		SNP	1.000	A	31	106
TBX2	6909	genome.wustl.edu	37	17	59477918	59477918	+	Silent	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr17:59477918C>T	ENST00000240328.3	+	1	662	c.381C>T	c.(379-381)atC>atT	p.I127I	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	127					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						AGATGGTCATCACCAAGTCCG	0.701													ENSG00000121068																									GBM(3;187 253 11467 14965 23079)												0													12.0	11.0	11.0					17																	59477918		2155	4236	6391	SO:0001819	synonymous_variant	0			-	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.381C>T	17.37:g.59477918C>T			Q16424|Q7Z647	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,pfscan_TF_T-box	p.I127	ENST00000240328.3	37	c.381	CCDS11627.2	17																																																																																			-	TBX2	-	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,pfscan_TF_T-box		0.701	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2	0	0		28	28		0.00		C	NM_005994		59477918	+1	9		76		tier1	no_errors	ENST00000419047	ensembl	human	known	74_37	silent	10.59		SNP	0.999	T	9	76
YY1AP1	55249	genome.wustl.edu	37	1	155658167	155658167	+	Intron	SNP	C	C	G			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:155658167C>G	ENST00000295566.4	-	2	71				YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000438245.2_5'Flank|YY1AP1_ENST00000405763.3_Missense_Mutation_p.S30T|DAP3_ENST00000535183.1_5'Flank|DAP3_ENST00000343043.3_5'Flank|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S30T|YY1AP1_ENST00000361831.5_Intron|DAP3_ENST00000421487.2_5'Flank|YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000476093.1_Intron|YY1AP1_ENST00000311573.5_5'Flank|YY1AP1_ENST00000404643.1_Intron|DAP3_ENST00000465375.1_5'Flank|DAP3_ENST00000368336.5_5'Flank|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S30T|YY1AP1_ENST00000368330.2_Intron|DAP3_ENST00000471642.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1						regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGGGAGGGAGCTAAGGGCGCC	0.687													ENSG00000163374																																					0																																										SO:0001627	intron_variant	0			-	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.48-175G>C	1.37:g.155658167C>G			B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.S30T	ENST00000295566.4	37	c.89	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	c	2.642	-0.283935	0.05642	.	.	ENSG00000163374	ENST00000368340;ENST00000368339;ENST00000405763	T;T	0.25749	1.8;1.78	2.61	1.64	0.23874	.	0.146062	0.64402	D	0.000007	T	0.03520	0.0101	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.30851	-0.9964	9	.	.	.	.	7.2604	0.26199	0.0:0.7221:0.2779:0.0	.	30;30;30	B4DMP2;B0QZ55;Q5VYZ1	.;.;.	T	30	ENSP00000357324:S30T;ENSP00000357323:S30T	.	S	-	2	0	YY1AP1	153924791	1.000000	0.71417	0.976000	0.42696	0.150000	0.21749	0.612000	0.24283	0.391000	0.25143	-0.531000	0.04308	AGC	-	YY1AP1	-	NULL		0.687	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	0	0		42	42		0.00		C	NM_139118		155658167	-1	27		76		tier1	no_errors	ENST00000368339	ensembl	human	known	74_37	missense	26.21		SNP	0.997	G	27	76
TRMT1	55621	genome.wustl.edu	37	19	13218410	13218410	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr19:13218410G>A	ENST00000592062.1	-	15	2131	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	TRMT1_ENST00000221504.8_Missense_Mutation_p.R492C|TRMT1_ENST00000357720.4_Missense_Mutation_p.R521C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R521C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	521							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTGAGAATGCGGAACGCTGGG	0.587													ENSG00000104907																																					0													60.0	37.0	45.0					19																	13218410		2203	4299	6502	SO:0001583	missense	0			-	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1561C>T	19.37:g.13218410G>A	ENSP00000466967:p.Arg521Cys		O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_TRM1,pfam_Znf_CCCH,pfam_tR_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1	p.R521C	ENST00000592062.1	37	c.1561	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113729	0.20795	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.08634	3.07;3.07;3.07	4.01	4.01	0.46588	.	0.207461	0.34932	N	0.003561	T	0.09642	0.0237	M	0.64997	1.995	0.48087	D	0.999581	P;B	0.34977	0.478;0.237	B;B	0.24269	0.052;0.023	T	0.09618	-1.0666	10	0.48119	T	0.1	-23.7847	13.6652	0.62391	0.0:0.0:1.0:0.0	.	492;521	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	C	521;521;492	ENSP00000350352:R521C;ENSP00000416149:R521C;ENSP00000221504:R492C	ENSP00000221504:R492C	R	-	1	0	TRMT1	13079410	1.000000	0.71417	0.997000	0.53966	0.254000	0.26022	6.063000	0.71162	2.086000	0.62901	0.462000	0.41574	CGC	-	TRMT1	-	NULL		0.587	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	0	0		48	48		0.00		G	NM_017722		13218410	-1	9		64		tier1	no_errors	ENST00000357720	ensembl	human	known	74_37	missense	12.16		SNP	1.000	A	9	64
JPH2	57158	genome.wustl.edu	37	20	42788548	42788548	+	Silent	SNP	G	G	A			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr20:42788548G>A	ENST00000372980.3	-	2	1751	c.879C>T	c.(877-879)ggC>ggT	p.G293G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	293					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCCACTCGCCCATGTAGG	0.692													ENSG00000149596																																					0													57.0	51.0	53.0					20																	42788548		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.879C>T	20.37:g.42788548G>A			E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.G293	ENST00000372980.3	37	c.879	CCDS13325.1	20																																																																																			-	JPH2	-	pfam_MORN,smart_MORN,pirsf_Junctophilin		0.692	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1	0	0		40	40		0.00		G			42788548	-1	15		51		tier1	no_errors	ENST00000372980	ensembl	human	known	74_37	silent	22.73		SNP	1.000	A	15	51
KIAA2013	90231	genome.wustl.edu	37	1	11983547	11983547	+	Splice_Site	SNP	C	C	T			TCGA-DX-A1L2-01A-22D-A24N-09	TCGA-DX-A1L2-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	4c59fb2d-21b6-4b09-8174-6102de736e4d	bab2414e-d20b-4b79-ae79-1223a627736e	g.chr1:11983547C>T	ENST00000376572.3	-	2	1219		c.e2-1		KIAA2013_ENST00000376576.3_Splice_Site	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013							integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTCCACTCCTGCAACACCA	0.552													ENSG00000116685																																					0													128.0	123.0	124.0					1																	11983547		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1034-1G>A	1.37:g.11983547C>T			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Splice_Site	SNP	-	e2-1	ENST00000376572.3	37	c.1034-1	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.439006	0.43326	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4898	0.90843	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA2013	11906134	1.000000	0.71417	0.966000	0.40874	0.379000	0.30106	7.437000	0.80417	2.696000	0.92011	0.555000	0.69702	.	-	KIAA2013	-	-		0.552	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	0	0		82	82		0.00		C	NM_138346	Intron	11983547	-1	20		67		tier1	no_errors	ENST00000376576	ensembl	human	known	74_37	splice_site	22.99		SNP	1.000	T	20	67
