#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
ANKRD13C	81573	genome.wustl.edu	37	1	70790568	70790568	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:70790568G>A	ENST00000370944.4	-	3	858	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ANKRD13C_ENST00000262346.6_Intron	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	182					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GATGGCTTCCGCCAGAGGGCT	0.373													ENSG00000118454																																					0													93.0	91.0	92.0					1																	70790568		2203	4300	6503	SO:0001583	missense	0			-		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.545C>T	1.37:g.70790568G>A	ENSP00000359982:p.Ala182Val		B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A182V	ENST00000370944.4	37	c.545	CCDS648.2	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911407	0.92178	.	.	ENSG00000118454	ENST00000370944	T	0.63913	-0.07	4.96	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	L	0.33189	0.99	0.80722	D	1	D	0.65815	0.995	P	0.55667	0.781	T	0.59451	-0.7452	10	0.45353	T	0.12	.	18.208	0.89860	0.0:0.0:1.0:0.0	.	182	Q8N6S4	AN13C_HUMAN	V	182	ENSP00000359982:A182V	ENSP00000359982:A182V	A	-	2	0	ANKRD13C	70563156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.577000	0.98196	2.457000	0.83068	0.650000	0.86243	GCG	-	ANKRD13C	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.373	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13C	HGNC	protein_coding	OTTHUMT00000025903.1	0	0	0	73	73	53	0.00	0.00	G	NM_030816		70790568	-1	30	11	57	44	tier1	no_errors	ENST00000370944	ensembl	human	known	74_37	missense	34.48	19.64	SNP	1.000	A	30	57
PPP1R13B	23368	genome.wustl.edu	37	14	104205300	104205300	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:104205300G>A	ENST00000202556.9	-	13	2935	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	PPP1R13B_ENST00000423488.2_Missense_Mutation_p.R304W|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	885					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGGTTAAACCGGACTCTCAGC	0.582													ENSG00000088808																																					0													106.0	114.0	111.0					14																	104205300		1997	4178	6175	SO:0001583	missense	0			-	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2653C>T	14.37:g.104205300G>A	ENSP00000202556:p.Arg885Trp		B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.R885W	ENST00000202556.9	37	c.2653	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654551	0.88056	.	.	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.56611	0.63;0.45	5.41	4.46	0.54185	Src homology-3 domain (1);	0.098869	0.64402	D	0.000001	T	0.55321	0.1913	L	0.54323	1.7	0.51233	D	0.999917	D	0.65815	0.995	P	0.50136	0.632	T	0.60342	-0.7282	10	0.87932	D	0	.	11.2197	0.48846	0.0:0.0:0.4854:0.5146	.	885	Q96KQ4	ASPP1_HUMAN	W	885;304	ENSP00000202556:R885W;ENSP00000395213:R304W	ENSP00000202556:R885W	R	-	1	2	PPP1R13B	103275053	1.000000	0.71417	0.984000	0.44739	0.870000	0.49936	5.435000	0.66532	1.437000	0.47472	0.561000	0.74099	CGG	-	PPP1R13B	-	superfamily_SH3_domain		0.582	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	0	0	0	33	33	72	0.00	0.00	G	NM_015316		104205300	-1	12	22	23	34	tier1	no_errors	ENST00000202556	ensembl	human	known	74_37	missense	34.29	39.29	SNP	1.000	A	12	23
LAMB4	22798	genome.wustl.edu	37	7	107743555	107743555	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:107743555C>T	ENST00000388781.3	-	10	1197	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	LAMB4_ENST00000414450.2_Missense_Mutation_p.D372N|LAMB4_ENST00000388780.3_Missense_Mutation_p.D372N|LAMB4_ENST00000205386.4_Missense_Mutation_p.D372N|LAMB4_ENST00000418464.1_Missense_Mutation_p.D372N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	372	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGCAGCGGTCGCAGTGCTGC	0.617													ENSG00000091128																																					0													64.0	55.0	58.0					7																	107743555		2203	4300	6503	SO:0001583	missense	0			-	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1114G>A	7.37:g.107743555C>T	ENSP00000373433:p.Asp372Asn		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D372N	ENST00000388781.3	37	c.1114	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057614	0.76074	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.3	0.0707	0.14379	EGF-like, laminin (4);	0.497510	0.18029	N	0.153964	T	0.61198	0.2328	L	0.43701	1.375	0.39014	D	0.959604	D	0.57571	0.98	P	0.48704	0.587	T	0.68390	-0.5421	10	0.87932	D	0	.	16.4466	0.83936	0.0:0.4904:0.5096:0.0	.	372	A4D0S4	LAMB4_HUMAN	N	372	ENSP00000205386:D372N;ENSP00000373433:D372N;ENSP00000373432:D372N;ENSP00000402353:D372N;ENSP00000402265:D372N	ENSP00000205386:D372N	D	-	1	0	LAMB4	107530791	0.955000	0.32602	0.089000	0.20774	0.895000	0.52256	1.910000	0.39927	-0.097000	0.12307	-0.175000	0.13238	GAC	-	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.617	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	0	0	0	48	48	29	0.00	0.00	C	XM_209857		107743555	-1	5	9	34	27	tier1	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	12.82	25.00	SNP	1.000	T	5	34
SCAMP2	10066	genome.wustl.edu	37	15	75142989	75142989	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:75142989G>T	ENST00000268099.9	-	6	607	c.498C>A	c.(496-498)aaC>aaA	p.N166K		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	166					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGCAAGCAGGTTCAGAAACA	0.572													ENSG00000140497																																					0													105.0	96.0	99.0					15																	75142989		2197	4295	6492	SO:0001583	missense	0			-	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.498C>A	15.37:g.75142989G>T	ENSP00000268099:p.Asn166Lys		B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.N166K	ENST00000268099.9	37	c.498	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650439	0.67472	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.50277	0.75	4.48	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74850	-0.3524	10	0.87932	D	0	.	7.2696	0.26250	0.24:0.0:0.76:0.0	.	166;135	O15127;B3KU14	SCAM2_HUMAN;.	K	166;135	ENSP00000268099:N166K	ENSP00000268099:N166K	N	-	3	2	SCAMP2	72930042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.599000	0.54045	2.210000	0.71456	0.491000	0.48974	AAC	-	SCAMP2	-	pfam_SCAMP		0.572	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	HGNC	protein_coding	OTTHUMT00000286403.3	0	0	0	34	34	61	0.00	0.00	G	NM_005697		75142989	-1	10	11	26	67	tier1	no_errors	ENST00000268099	ensembl	human	known	74_37	missense	27.78	14.10	SNP	1.000	T	10	26
LPIN2	9663	genome.wustl.edu	37	18	2921524	2921524	+	Intron	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr18:2921524T>C	ENST00000261596.4	-	18	2681				RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCCCAGGAGATACTCACATTT	0.448													ENSG00000272625																																					0													93.0	90.0	91.0					18																	2921524		2203	4300	6503	SO:0001627	intron_variant	0			-	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2442+6A>G	18.37:g.2921524T>C			A7MD25|D3DUH3	R	SNP	-	NULL	ENST00000261596.4	37	NULL	CCDS11829.1	18																																																																																			-	RP11-737O24.5	-	-		0.448	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272625	Clone_based_vega_gene	protein_coding	OTTHUMT00000254363.2	0	0	0	50	50	105	0.00	0.00	T	NM_014646		2921524	+1	18	36	36	74	tier1	no_errors	ENST00000608032	ensembl	human	known	74_37	rna	33.33	32.73	SNP	0.922	C	18	36
MAPT	4137	genome.wustl.edu	37	17	44067384	44067384	+	Silent	SNP	C	C	T	rs556489804		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:44067384C>T	ENST00000571987.1	+	7	1323	c.1323C>T	c.(1321-1323)taC>taT	p.Y441Y	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Silent_p.Y441Y|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.Y441Y|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000344290.5_Silent_p.Y441Y|MAPT_ENST00000570299.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	441			Y -> H (in dbSNP:rs2258689). {ECO:0000269|PubMed:1420178, ECO:0000269|PubMed:15365985, ECO:0000269|PubMed:9629852}.		adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CTCCTAAATACGTCTCTTCTG	0.537													ENSG00000186868																																					0													157.0	158.0	157.0					17																	44067384		2203	4300	6503	SO:0001819	synonymous_variant	0			-	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1323C>T	17.37:g.44067384C>T			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	pfam_MAP_tubulin-bd_rpt,prints_Tau	p.Y441	ENST00000571987.1	37	c.1323	CCDS11501.1	17																																																																																			-	MAPT	-	NULL		0.537	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	0	0	0	47	47	62	0.00	0.00	C	NM_016835		44067384	+1	27	29	30	38	tier1	no_errors	ENST00000344290	ensembl	human	known	74_37	silent	47.37	43.28	SNP	1.000	T	27	30
TEX15	56154	genome.wustl.edu	37	8	30695394	30695394	+	Silent	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:30695394A>G	ENST00000256246.2	-	3	7331	c.7257T>C	c.(7255-7257)acT>acC	p.T2419T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2419					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAGATGAAACAGTTAAGTCTA	0.368													ENSG00000133863																																					0													221.0	221.0	221.0					8																	30695394		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7257T>C	8.37:g.30695394A>G				Silent	SNP	NULL	p.T2419	ENST00000256246.2	37	c.7257	CCDS6080.1	8																																																																																			-	TEX15	-	NULL		0.368	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	0	0	0	87	87	66	0.00	0.00	A			30695394	-1	34	41	74	87	tier1	no_errors	ENST00000256246	ensembl	human	known	74_37	silent	31.48	32.03	SNP	0.000	G	34	74
SEMA6A	57556	genome.wustl.edu	37	5	115827498	115827498	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:115827498T>A	ENST00000343348.6	-	7	1260	c.473A>T	c.(472-474)gAa>gTa	p.E158V	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E158V|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.E158V|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	158	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCCGCTGAATTCATCCCCGAA	0.413													ENSG00000092421																																					0													132.0	130.0	131.0					5																	115827498		1949	4137	6086	SO:0001583	missense	0			-	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.473A>T	5.37:g.115827498T>A	ENSP00000345512:p.Glu158Val		Q9P2H9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E158V	ENST00000343348.6	37	c.473	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	T	32	5.116878	0.94385	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009	T;T;T;T	0.52295	2.78;2.78;2.78;0.67	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.35341	1.055	0.80722	D	1	P;P	0.47910	0.902;0.88	P;P	0.55871	0.786;0.746	T	0.57271	-0.7840	10	0.87932	D	0	.	16.3126	0.82898	0.0:0.0:0.0:1.0	.	158;158	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	158	ENSP00000345512:E158V;ENSP00000257414:E158V;ENSP00000424388:E158V;ENSP00000421935:E158V	ENSP00000257414:E158V	E	-	2	0	SEMA6A	115855397	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.698000	0.84413	2.333000	0.79357	0.482000	0.46254	GAA	-	SEMA6A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.413	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	0	0	0	36	36	58	0.00	0.00	T	NM_020796		115827498	-1	18	15	39	86	tier1	no_errors	ENST00000257414	ensembl	human	known	74_37	missense	31.58	14.85	SNP	1.000	A	18	39
SORCS3	22986	genome.wustl.edu	37	10	107023093	107023093	+	Silent	SNP	C	C	T	rs375742143	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:107023093C>T	ENST00000369701.3	+	27	3857	c.3630C>T	c.(3628-3630)agC>agT	p.S1210S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1210					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGCAAACAGCGAAAGCACAA	0.438													ENSG00000156395	C|||	3	0.000599042	0.0	0.0	5008	,	,		17522	0.0		0.0	False		,,,				2504	0.0031				NSCLC(116;1497 1690 7108 13108 14106)												0													122.0	103.0	109.0					10																	107023093		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3630C>T	10.37:g.107023093C>T			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.S1210	ENST00000369701.3	37	c.3630	CCDS7558.1	10																																																																																			-	SORCS3	-	NULL		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	0	0	0	46	46	50	0.00	0.00	C	NM_014978		107023093	+1	9	12	55	65	tier1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	14.06	15.58	SNP	0.998	T	9	55
UGT3A2	167127	genome.wustl.edu	37	5	36035965	36035965	+	Silent	SNP	C	C	T	rs138782726	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:36035965C>T	ENST00000282507.3	-	7	1508	c.1407G>A	c.(1405-1407)acG>acA	p.T469T	UGT3A2_ENST00000545528.1_Silent_p.T167T|UGT3A2_ENST00000513300.1_Silent_p.T435T	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGAGGTGCGTCGCGCCCC	0.622													ENSG00000168671	C|||	3	0.000599042	0.0	0.0	5008	,	,		16308	0.0		0.0	False		,,,				2504	0.0031																0								C	,	2,4404	4.2+/-10.8	0,2,2201	56.0	49.0	52.0		1305,1407	-5.5	0.0	5	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UGT3A2	NM_001168316.1,NM_174914.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	435/490,469/524	36035965	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1407G>A	5.37:g.36035965C>T			B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T469	ENST00000282507.3	37	c.1407	CCDS3914.1	5																																																																																			rs138782726	UGT3A2	-	pfam_UDP_glucos_trans		0.622	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	0	0	0	48	48	68	0.00	0.00	C	NM_174914		36035965	-1	9	16	31	62	tier1	no_errors	ENST00000282507	ensembl	human	known	74_37	silent	22.50	20.51	SNP	0.000	T	9	31
GREB1	9687	genome.wustl.edu	37	2	11767167	11767167	+	Silent	SNP	G	G	A	rs541354837		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:11767167G>A	ENST00000381486.2	+	25	4686	c.4386G>A	c.(4384-4386)gcG>gcA	p.A1462A	GREB1_ENST00000234142.5_Silent_p.A1462A|GREB1_ENST00000396123.1_Silent_p.A460A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1462						integral component of membrane (GO:0016021)		p.A1462A(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGTACGCAGCGTACAACACTT	0.587													ENSG00000196208	G|||	1	0.000199681	0.0	0.0	5008	,	,		20049	0.0		0.0	False		,,,				2504	0.001				Ovarian(39;850 945 2785 23371 33093)												1	Substitution - coding silent(1)	large_intestine(1)											81.0	89.0	87.0					2																	11767167		2137	4245	6382	SO:0001819	synonymous_variant	0			-		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4386G>A	2.37:g.11767167G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	superfamily_P-loop_NTPase	p.A1462	ENST00000381486.2	37	c.4386	CCDS42655.1	2																																																																																			-	GREB1	-	NULL		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	0	0	0	71	71	60	0.00	0.00	G	NM_014668		11767167	+1	15	25	44	44	tier1	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	25.42	36.23	SNP	0.000	A	15	44
ANLN	54443	genome.wustl.edu	37	7	36458929	36458929	+	Silent	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:36458929T>C	ENST00000265748.2	+	10	1931	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	ANLN_ENST00000396068.2_Silent_p.S533S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	570	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACCTCTTCAGTGATGTCCTAG	0.388													ENSG00000011426																																					0													140.0	123.0	128.0					7																	36458929		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1710T>C	7.37:g.36458929T>C			Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S570	ENST00000265748.2	37	c.1710	CCDS5447.1	7																																																																																			-	ANLN	-	NULL		0.388	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	0	0	0	45	45	34	0.00	0.00	T	NM_018685		36458929	+1	21	27	37	56	tier1	no_errors	ENST00000265748	ensembl	human	known	74_37	silent	36.21	32.53	SNP	1.000	C	21	37
THBS4	7060	genome.wustl.edu	37	5	79351687	79351687	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:79351687G>A	ENST00000350881.2	+	3	562	c.372G>A	c.(370-372)cgG>cgA	p.R124R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.R33R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	124	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R124R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGGAAGGCGGCACAGGATCC	0.567													ENSG00000113296																																					1	Substitution - coding silent(1)	lung(1)											126.0	131.0	129.0					5																	79351687		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.372G>A	5.37:g.79351687G>A			B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R124	ENST00000350881.2	37	c.372	CCDS4049.1	5																																																																																			-	THBS4	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.567	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	0	0	0	31	31	101	0.00	0.00	G			79351687	+1	13	21	35	96	tier1	no_errors	ENST00000350881	ensembl	human	known	74_37	silent	27.08	17.95	SNP	0.950	A	13	35
CNNM1	26507	genome.wustl.edu	37	10	101147724	101147724	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:101147724G>A	ENST00000356713.4	+	8	2777	c.2488G>A	c.(2488-2490)Gcc>Acc	p.A830T	CNNM1_ENST00000370534.4_Missense_Mutation_p.A486T|CNNM1_ENST00000446890.1_Missense_Mutation_p.A759T|CNNM1_ENST00000370528.3_Missense_Mutation_p.A759T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	830					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGATGACCCCGCCATCACGCT	0.642													ENSG00000119946																																					0													35.0	39.0	37.0					10																	101147724		2203	4299	6502	SO:0001583	missense	0			-	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2488G>A	10.37:g.101147724G>A	ENSP00000349147:p.Ala830Thr		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom	p.A830T	ENST00000356713.4	37	c.2488	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.171994	0.01646	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.05	3.17	0.36434	.	0.344753	0.22614	N	0.057787	T	0.09379	0.0231	N	0.02345	-0.59	0.25448	N	0.988037	B;B;B	0.19445	0.009;0.036;0.001	B;B;B	0.17098	0.005;0.017;0.001	T	0.37244	-0.9714	10	0.02654	T	1	-25.2232	6.9488	0.24534	0.1499:0.0:0.7105:0.1396	.	486;830;830	F5H5J0;Q9NRU3-2;Q9NRU3	.;.;CNNM1_HUMAN	T	830;759;759;486;283	ENSP00000349147:A830T;ENSP00000406492:A759T;ENSP00000359559:A759T;ENSP00000359565:A486T	ENSP00000349147:A830T	A	+	1	0	CNNM1	101137714	0.148000	0.22702	0.206000	0.23566	0.076000	0.17211	1.518000	0.35877	0.623000	0.30267	0.655000	0.94253	GCC	-	CNNM1	-	NULL		0.642	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	0	0	0	73	73	50	0.00	0.00	G	NM_020348		101147724	+1	8	7	38	36	tier1	no_errors	ENST00000356713	ensembl	human	known	74_37	missense	17.39	16.28	SNP	0.980	A	8	38
TICRR	90381	genome.wustl.edu	37	15	90166933	90166933	+	Missense_Mutation	SNP	C	C	T	rs201365800	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:90166933C>T	ENST00000268138.7	+	20	3497	c.3392C>T	c.(3391-3393)cCg>cTg	p.P1131L	TICRR_ENST00000560985.1_Missense_Mutation_p.P1130L|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1131					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCACAAACTCCGTTGTATACT	0.448													ENSG00000140534	C|||	9	0.00179712	0.0	0.0	5008	,	,		17906	0.0		0.0	False		,,,				2504	0.0092																0								C	LEU/PRO	0,3696		0,0,1848	165.0	163.0	163.0		3392	2.2	0.0	15		163	1,8177		0,1,4088	no	missense	C15orf42	NM_152259.3	98	0,1,5936	TT,TC,CC		0.0122,0.0,0.0084	benign	1131/1911	90166933	1,11873	1848	4089	5937	SO:0001583	missense	0			-	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3392C>T	15.37:g.90166933C>T	ENSP00000268138:p.Pro1131Leu		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.P1131L	ENST00000268138.7	37	c.3392	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	7.448	0.642108	0.14451	0.0	1.22E-4	ENSG00000140534	ENST00000268138	T	0.09073	3.02	5.27	2.25	0.28309	.	0.208995	0.41938	N	0.000787	T	0.05456	0.0144	L	0.28740	0.885	0.09310	N	0.999999	B	0.17667	0.023	B	0.15052	0.012	T	0.39354	-0.9618	10	0.27785	T	0.31	-3.4785	5.3512	0.16036	0.1595:0.6522:0.0:0.1883	.	1131	Q7Z2Z1	TICRR_HUMAN	L	1131	ENSP00000268138:P1131L	ENSP00000268138:P1131L	P	+	2	0	C15orf42	87967937	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.593000	0.23999	0.165000	0.19558	-0.217000	0.12591	CCG	rs201365800	TICRR	-	NULL		0.448	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	0	0	0	61	61	68	0.00	0.00	C	NM_152259		90166933	+1	26	34	35	65	tier1	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	42.62	34.34	SNP	0.001	T	26	35
KIF17	57576	genome.wustl.edu	37	1	21036298	21036298	+	Silent	SNP	G	G	A	rs144285910		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:21036298G>A	ENST00000247986.2	-	4	814	c.504C>T	c.(502-504)ggC>ggT	p.G168G	KIF17_ENST00000375044.1_Silent_p.G68G|KIF17_ENST00000400463.3_Silent_p.G168G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	168	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCACGTACACGCCCTTCTCTG	0.617													ENSG00000117245	G|||	1	0.000199681	0.0008	0.0	5008	,	,		21306	0.0		0.0	False		,,,				2504	0.0																0													89.0	56.0	67.0					1																	21036298		2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.504C>T	1.37:g.21036298G>A			A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G168	ENST00000247986.2	37	c.504	CCDS213.1	1																																																																																			rs144285910	KIF17	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	0	0	0	15	15	51	0.00	0.00	G	NM_020816		21036298	-1	7	13	10	27	tier1	no_errors	ENST00000247986	ensembl	human	known	74_37	silent	41.18	32.50	SNP	0.120	A	7	10
CERK	64781	genome.wustl.edu	37	22	47095308	47095308	+	Missense_Mutation	SNP	C	C	T	rs144086274		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:47095308C>T	ENST00000216264.8	-	8	957	c.845G>A	c.(844-846)cGc>cAc	p.R282H	CERK_ENST00000541677.1_Missense_Mutation_p.R84H	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	282					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACGGAGTAGCGAAGGAGTGT	0.597													ENSG00000100422																																					0													235.0	171.0	193.0					22																	47095308		2203	4300	6503	SO:0001583	missense	0			-	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.845G>A	22.37:g.47095308C>T	ENSP00000216264:p.Arg282His		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-D_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.R282H	ENST00000216264.8	37	c.845	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598719	0.66332	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.16597	2.33;2.33	4.96	3.87	0.44632	.	0.151405	0.41823	D	0.000810	T	0.21267	0.0512	M	0.86502	2.82	0.58432	D	0.99999	P	0.51653	0.947	B	0.43508	0.422	T	0.06215	-1.0839	10	0.21014	T	0.42	-4.2751	3.8329	0.08882	0.0:0.6641:0.0:0.3359	.	282	Q8TCT0	CERK1_HUMAN	H	282;84	ENSP00000216264:R282H;ENSP00000438659:R84H	ENSP00000216264:R282H	R	-	2	0	CERK	45473972	0.989000	0.36119	0.978000	0.43139	0.364000	0.29643	2.660000	0.46749	2.301000	0.77427	0.563000	0.77884	CGC	-	CERK	-	NULL		0.597	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	0	0	0	45	45	82	0.00	0.00	C	NM_022766		47095308	-1	7	21	36	68	tier1	no_errors	ENST00000216264	ensembl	human	known	74_37	missense	16.28	23.08	SNP	0.988	T	7	36
RIN3	79890	genome.wustl.edu	37	14	93107613	93107613	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:93107613C>T	ENST00000216487.7	+	5	630	c.471C>T	c.(469-471)ccC>ccT	p.P157P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	157	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGCGGCTACCCCAGGCCATCC	0.607													ENSG00000100599																																					0													124.0	98.0	107.0					14																	93107613		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.471C>T	14.37:g.93107613C>T			Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	NULL	p.P133L	ENST00000216487.7	37	c.398	CCDS32144.1	14																																																																																			-	RIN3	-	NULL		0.607	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	0	0	0	39	39	86	0.00	0.00	C			93107613	+1	6	30	23	51	tier1	no_errors	ENST00000555589	ensembl	human	known	74_37	missense	20.69	36.14	SNP	1.000	T	6	23
STAB2	55576	genome.wustl.edu	37	12	104015858	104015858	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:104015858C>T	ENST00000388887.2	+	5	660	c.456C>T	c.(454-456)gaC>gaT	p.D152D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTGTGCTGACGACAACTTAT	0.478													ENSG00000136011																																					0													256.0	221.0	233.0					12																	104015858		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.456C>T	12.37:g.104015858C>T				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D152	ENST00000388887.2	37	c.456	CCDS31888.1	12																																																																																			-	STAB2	-	smart_EGF_laminin		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	0	0	0	55	55	90	0.00	0.00	C			104015858	+1	34	57	52	86	tier1	no_errors	ENST00000388887	ensembl	human	known	74_37	silent	39.53	39.86	SNP	0.866	T	34	52
ZNF235	9310	genome.wustl.edu	37	19	44791889	44791889	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:44791889C>T	ENST00000291182.4	-	5	1801	c.1699G>A	c.(1699-1701)Gga>Aga	p.G567R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	567					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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGTTTCTCTCCGGTGTGGACT	0.458													ENSG00000159917																																					0													79.0	78.0	78.0					19																	44791889		2203	4300	6503	SO:0001583	missense	0			-	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1699G>A	19.37:g.44791889C>T	ENSP00000291182:p.Gly567Arg		B4DTQ7|O14898|O14899|Q17RR8	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.G567R	ENST00000291182.4	37	c.1699	CCDS33048.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457787	0.84317	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.26223	1.75	5.04	5.04	0.67666	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000800	T	0.42063	0.1186	L	0.35249	1.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.32693	-0.9897	10	0.66056	D	0.02	.	17.5055	0.87743	0.0:1.0:0.0:0.0	.	563;567	Q14590-2;Q14590	.;ZN235_HUMAN	R	567;567;459	ENSP00000291182:G567R	ENSP00000291182:G567R	G	-	1	0	ZNF235	49483729	0.061000	0.20836	0.533000	0.28001	0.950000	0.60333	1.475000	0.35409	2.502000	0.84385	0.462000	0.41574	GGA	-	ZNF235	-	pfscan_Znf_C2H2		0.458	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF235	HGNC	protein_coding	OTTHUMT00000460732.1	0	0	0	19	19	34	0.00	0.00	C			44791889	-1	16	26	29	24	tier1	no_errors	ENST00000291182	ensembl	human	known	74_37	missense	35.56	52.00	SNP	0.999	T	16	29
MAMLD1	10046	genome.wustl.edu	37	X	149639409	149639409	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:149639409A>T	ENST00000370401.2	+	4	1874	c.1564A>T	c.(1564-1566)Atg>Ttg	p.M522L	MAMLD1_ENST00000426613.2_Missense_Mutation_p.M497L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.M3L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M522L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.M497L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	522					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCATGATCATGCAGCAGGG	0.532													ENSG00000013619																																					0													94.0	80.0	85.0					X																	149639409		2203	4300	6503	SO:0001583	missense	0			-	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1564A>T	X.37:g.149639409A>T	ENSP00000359428:p.Met522Leu		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.M497L	ENST00000370401.2	37	c.1489	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785940	0.49997	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.45	0.259	0.15583	.	0.114703	0.64402	D	0.000015	T	0.61887	0.2383	L	0.41824	1.3	0.27336	N	0.956643	P;B;P	0.44090	0.826;0.183;0.826	P;B;P	0.57009	0.811;0.032;0.811	T	0.52638	-0.8549	10	0.18276	T	0.48	-17.0185	4.2982	0.10911	0.5218:0.3007:0.0762:0.1013	.	497;497;522	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	L	522;497;522;497;3	ENSP00000359428:M522L;ENSP00000414517:M497L;ENSP00000262858:M522L;ENSP00000397438:M497L;ENSP00000389106:M3L	ENSP00000262858:M522L	M	+	1	0	MAMLD1	149390067	0.999000	0.42202	0.953000	0.39169	0.963000	0.63663	1.016000	0.29976	0.227000	0.20999	0.430000	0.28490	ATG	-	MAMLD1	-	NULL		0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	0	0	0	12	12	35	0.00	0.00	A	NM_005491		149639409	+1	4	12	17	22	tier1	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	19.05	35.29	SNP	0.987	T	4	17
CLU	1191	genome.wustl.edu	37	8	27462569	27462569	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:27462569G>A	ENST00000316403.10	-	5	1106	c.701C>T	c.(700-702)cCg>cTg	p.P234L	CLU_ENST00000546343.1_Missense_Mutation_p.P245L|CLU_ENST00000523500.1_Missense_Mutation_p.P234L|CLU_ENST00000405140.3_Missense_Mutation_p.P234L|CLU_ENST00000560366.1_Missense_Mutation_p.P286L			P10909	CLUS_HUMAN	clusterin	234					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.P286L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGGCTCGTACGGAGAGAAGGG	0.592													ENSG00000120885																																					1	Substitution - Missense(1)	ovary(1)											117.0	112.0	114.0					8																	27462569		2203	4300	6503	SO:0001583	missense	0			-	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.701C>T	8.37:g.27462569G>A	ENSP00000315130:p.Pro234Leu		B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.P286L	ENST00000316403.10	37	c.857	CCDS47832.1	8	.	.	.	.	.	.	.	.	.	.	G	2.750	-0.260285	0.05791	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.66	-3.72	0.04411	Clusterin, C-terminal (1);	2.240620	0.01623	N	0.023112	T	0.08044	0.0201	N	0.05510	-0.035	0.09310	N	1	B;B;B;B	0.15473	0.013;0.002;0.002;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.15867	-1.0422	10	0.08599	T	0.76	-0.057	1.7188	0.02907	0.3672:0.1304:0.3645:0.138	.	99;286;245;234	E7ETA7;P10909-2;P10909-5;P10909	.;.;.;CLUS_HUMAN	L	286;245;234;234;59;99;200	ENSP00000446413:P245L;ENSP00000385419:P234L;ENSP00000429620:P234L;ENSP00000431070:P200L	ENSP00000315130:P286L	P	-	2	0	CLU	27518486	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.644000	0.05415	-0.623000	0.05618	0.563000	0.77884	CCG	-	CLU	-	pfam_Clusterin-like,smart_Clusterin_C		0.592	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLU	HGNC	protein_coding	OTTHUMT00000219953.3	0	0	0	40	40	84	0.00	0.00	G	NM_001831		27462569	-1	10	14	44	80	tier1	no_errors	ENST00000560366	ensembl	human	known	74_37	missense	18.52	14.89	SNP	0.000	A	10	44
HEATR5B	54497	genome.wustl.edu	37	2	37295977	37295977	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:37295977G>A	ENST00000233099.5	-	8	1119	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R342W	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	342						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTGTTGCCCGAGGATGGGAA	0.493													ENSG00000008869																																					0													86.0	74.0	78.0					2																	37295977		2203	4300	6503	SO:0001583	missense	0			-	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1024C>T	2.37:g.37295977G>A	ENSP00000233099:p.Arg342Trp		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R342W	ENST00000233099.5	37	c.1024	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826793	0.90955	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08984	3.03;3.03	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.00139	-1.2001	10	0.72032	D	0.01	-16.5687	20.0762	0.97745	0.0:0.0:1.0:0.0	.	342	Q9P2D3	HTR5B_HUMAN	W	342	ENSP00000233099:R342W;ENSP00000346531:R342W	ENSP00000233099:R342W	R	-	1	2	HEATR5B	37149481	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.722000	0.61958	2.756000	0.94617	0.655000	0.94253	CGG	-	HEATR5B	-	superfamily_ARM-type_fold		0.493	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	0	0	0	56	56	69	0.00	0.00	G	NM_019024		37295977	-1	17	22	62	94	tier1	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	21.52	18.97	SNP	1.000	A	17	62
CSGALNACT1	55790	genome.wustl.edu	37	8	19363317	19363317	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:19363317G>A	ENST00000454498.2	-	4	1042	c.29C>T	c.(28-30)gCg>gTg	p.A10V	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A10V|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A10V|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A10V|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A10V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	10					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGAAATCCACGCAAGCAGCCC	0.607													ENSG00000147408																																					0													99.0	104.0	102.0					8																	19363317		2203	4300	6503	SO:0001583	missense	0			-	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.29C>T	8.37:g.19363317G>A	ENSP00000411816:p.Ala10Val		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_Galc	p.A10V	ENST00000454498.2	37	c.29	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443495	0.43429	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494;ENST00000520003;ENST00000524213	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.84	3.12	0.35913	.	0.291697	0.37304	N	0.002143	T	0.19765	0.0475	L	0.48642	1.525	0.33732	D	0.618387	B	0.11235	0.004	B	0.09377	0.004	T	0.12243	-1.0555	10	0.42905	T	0.14	-10.1591	5.7284	0.18026	0.2468:0.3384:0.4149:0.0	.	10	Q8TDX6	CGAT1_HUMAN	V	10	ENSP00000411816:A10V;ENSP00000330805:A10V;ENSP00000310891:A10V;ENSP00000429809:A10V;ENSP00000442155:A10V	ENSP00000310891:A10V	A	-	2	0	CSGALNACT1	19407597	0.906000	0.30813	0.575000	0.28536	0.993000	0.82548	2.856000	0.48341	0.409000	0.25649	0.655000	0.94253	GCG	-	CSGALCT1	-	NULL		0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALCT1	HGNC	protein_coding	OTTHUMT00000375204.1	0	0	0	27	27	71	0.00	0.00	G	NM_018371		19363317	-1	4	21	19	79	tier1	no_errors	ENST00000311540	ensembl	human	known	74_37	missense	17.39	21.00	SNP	0.905	A	4	19
TTC21A	199223	genome.wustl.edu	37	3	39174499	39174499	+	Intron	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:39174499G>A	ENST00000431162.2	+	20	2717				TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Intron|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A											NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACTGGTATGTCAGGCTCTG	0.458													ENSG00000168026																																					0													39.0	37.0	38.0					3																	39174499		1874	4110	5984	SO:0001627	intron_variant	0			-	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2584-44G>A	3.37:g.39174499G>A			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	R	SNP	-	NULL	ENST00000431162.2	37	NULL	CCDS46800.1	3																																																																																			-	TTC21A	-	-		0.458	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	0	0	0	97	97	87	0.00	0.00	G	NM_145755		39174499	+1	12	20	114	92	tier1	no_errors	ENST00000493856	ensembl	human	known	74_37	rna	9.52	17.86	SNP	0.000	A	12	114
PPM1H	57460	genome.wustl.edu	37	12	63042336	63042336	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:63042336C>T	ENST00000228705.6	-	10	1778	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	PPM1H_ENST00000551214.1_5'Flank|snoU13_ENST00000459527.1_RNA	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	493	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGAGCCCAGTCGGTCATTAGA	0.522													ENSG00000111110																																					0													83.0	86.0	85.0					12																	63042336		2050	4206	6256	SO:0001583	missense	0			-	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1478G>A	12.37:g.63042336C>T	ENSP00000228705:p.Arg493Gln		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R493Q	ENST00000228705.6	37	c.1478	CCDS44934.1	12	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554684	0.86231	.	.	ENSG00000111110	ENST00000228705	T	0.27402	1.67	5.93	5.93	0.95920	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.52573	1.65	0.80722	D	1	D	0.57571	0.98	P	0.48114	0.567	T	0.03315	-1.1049	9	.	.	.	7.6953	20.3507	0.98813	0.0:1.0:0.0:0.0	.	493	Q9ULR3	PPM1H_HUMAN	Q	493	ENSP00000228705:R493Q	.	R	-	2	0	PPM1H	61328603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.207000	0.77899	2.808000	0.96608	0.655000	0.94253	CGA	-	PPM1H	-	superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.522	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2	0	0	0	29	29	34	0.00	0.00	C	NM_020700		63042336	-1	18	29	22	46	tier1	no_errors	ENST00000228705	ensembl	human	known	74_37	missense	45.00	38.67	SNP	1.000	T	18	22
SLC22A16	85413	genome.wustl.edu	37	6	110768131	110768131	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:110768131G>A	ENST00000368919.3	-	3	662	c.596C>T	c.(595-597)gCg>gTg	p.A199V	SLC22A16_ENST00000439654.1_Missense_Mutation_p.A199V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.A165V|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	199					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TGCAAACGCCGCTGCTATTCC	0.438													ENSG00000004809																																					0													77.0	73.0	74.0					6																	110768131		2203	4300	6503	SO:0001583	missense	0			-		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.596C>T	6.37:g.110768131G>A	ENSP00000357915:p.Ala199Val		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A199V	ENST00000368919.3	37	c.596	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	G	4.532	0.098718	0.08681	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.14	0.738	0.18319	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.596486	0.17144	N	0.185356	T	0.09992	0.0245	N	0.03608	-0.345	0.20975	N	0.999818	B;B	0.16802	0.019;0.004	B;B	0.13407	0.009;0.005	T	0.41233	-0.9520	10	0.11182	T	0.66	.	8.8607	0.35256	0.7846:0.0:0.2154:0.0	.	199;165	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	199;116;165;199;29;156;156	ENSP00000357915:A199V;ENSP00000395642:A116V;ENSP00000328583:A165V;ENSP00000408799:A199V;ENSP00000409306:A29V;ENSP00000416310:A156V;ENSP00000401007:A156V	ENSP00000328583:A165V	A	-	2	0	SLC22A16	110874824	0.074000	0.21230	0.000000	0.03702	0.047000	0.14425	1.142000	0.31540	-0.100000	0.12241	-0.258000	0.10820	GCG	-	SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.438	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	0	0	0	37	37	49	0.00	0.00	G	NM_033125		110768131	-1	19	31	27	46	tier1	no_errors	ENST00000368919	ensembl	human	known	74_37	missense	41.30	40.26	SNP	0.268	A	19	27
PTK2B	2185	genome.wustl.edu	37	8	27296914	27296914	+	Splice_Site	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:27296914C>T	ENST00000397501.1	+	25	2641	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	PTK2B_ENST00000397497.4_Splice_Site_p.F357F|PTK2B_ENST00000420218.2_Splice_Site_p.F611F|PTK2B_ENST00000544172.1_Splice_Site_p.F611F|PTK2B_ENST00000338238.4_Splice_Site_p.F611F|PTK2B_ENST00000517339.1_Splice_Site_p.F611F|PTK2B_ENST00000346049.5_Splice_Site_p.F611F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCTGGATGTTCGGTGAGTGCT	0.562													ENSG00000120899																																					0													78.0	70.0	73.0					8																	27296914		2203	4300	6503	SO:0001630	splice_region_variant	0			-	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1834+1C>T	8.37:g.27296914C>T			D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F611	ENST00000397501.1	37	c.1833	CCDS6057.1	8																																																																																			-	PTK2B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.562	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	0	0	0	17	17	57	0.00	0.00	C	NM_004103	Silent	27296914	+1	14	20	15	72	tier1	no_errors	ENST00000346049	ensembl	human	known	74_37	silent	48.28	21.74	SNP	1.000	T	14	15
MRPL35	51318	genome.wustl.edu	37	2	86437709	86437709	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:86437709C>T	ENST00000337109.4	+	4	519	c.485C>T	c.(484-486)aCg>aTg	p.T162M	MRPL35_ENST00000409180.1_Missense_Mutation_p.T162M|MRPL35_ENST00000605125.1_3'UTR|MRPL35_ENST00000254644.8_Missense_Mutation_p.T162M	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	162					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GATAAAATGACGACGTCCTTC	0.368													ENSG00000132313																																					0													84.0	81.0	82.0					2																	86437709		2203	4300	6503	SO:0001583	missense	0			-	AF208849	CCDS1987.1, CCDS1988.1	2p11.2	2012-09-13			ENSG00000132313	ENSG00000132313		"""Mitochondrial ribosomal proteins / large subunits"""	14489	protein-coding gene	gene with protein product		611841				11042152, 11551941	Standard	NM_016622		Approved		uc002srg.4	Q9NZE8	OTTHUMG00000037385	ENST00000337109.4:c.485C>T	2.37:g.86437709C>T	ENSP00000338389:p.Thr162Met		A6NKV6|B2RB93|Q658U7|Q8WWA2	Missense_Mutation	SNP	pfam_Ribosomal_L35	p.T162M	ENST00000337109.4	37	c.485	CCDS1988.1	2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019373	0.93462	.	.	ENSG00000132313	ENST00000254644;ENST00000337109;ENST00000409180	T;T;T	0.16324	2.35;2.61;2.35	5.53	5.53	0.82687	.	0.042432	0.85682	D	0.000000	T	0.46833	0.1413	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46898	-0.9158	10	0.87932	D	0	-16.3329	19.4895	0.95044	0.0:1.0:0.0:0.0	.	162	Q9NZE8	RM35_HUMAN	M	162	ENSP00000254644:T162M;ENSP00000338389:T162M;ENSP00000386255:T162M	ENSP00000254644:T162M	T	+	2	0	MRPL35	86291220	1.000000	0.71417	0.960000	0.40013	0.958000	0.62258	7.381000	0.79718	2.596000	0.87737	0.655000	0.94253	ACG	-	MRPL35	-	pfam_Ribosomal_L35		0.368	MRPL35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL35	HGNC	protein_coding	OTTHUMT00000091002.2	0	0	0	53	53	10	0.00	0.00	C	NM_016622		86437709	+1	31	12	50	16	tier1	no_errors	ENST00000337109	ensembl	human	known	74_37	missense	38.27	42.86	SNP	1.000	T	31	50
CEP152	22995	genome.wustl.edu	37	15	49030471	49030471	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:49030471T>A	ENST00000380950.2	-	27	5295	c.5108A>T	c.(5107-5109)gAt>gTt	p.D1703V	CEP152_ENST00000399334.3_Missense_Mutation_p.D1647V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1703					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATGGGCTATCAAAGCCACT	0.328													ENSG00000103995																																					0													62.0	57.0	59.0					15																	49030471		1824	4070	5894	SO:0001583	missense	0			-	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5108A>T	15.37:g.49030471T>A	ENSP00000370337:p.Asp1703Val		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.D1703V	ENST00000380950.2	37	c.5108	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	T	18.95	3.730944	0.69074	.	.	ENSG00000103995	ENST00000399334	T	0.70986	-0.53	4.61	3.46	0.39613	.	0.148951	0.30519	N	0.009449	T	0.69824	0.3154	L	0.34521	1.04	0.80722	D	1	D	0.53312	0.959	P	0.54664	0.758	T	0.71636	-0.4533	10	0.87932	D	0	-17.0535	11.511	0.50494	0.0:0.0:0.15:0.85	.	1647	O94986	CE152_HUMAN	V	1647	ENSP00000382271:D1647V	ENSP00000382271:D1647V	D	-	2	0	CEP152	46817763	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.298000	0.51818	0.771000	0.33359	0.460000	0.39030	GAT	-	CEP152	-	NULL		0.328	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	0	0	0	66	66	28	0.00	0.00	T	NM_014985		49030471	-1	23	27	58	25	tier1	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	28.40	50.94	SNP	1.000	A	23	58
TAF10	6881	genome.wustl.edu	37	11	6632451	6632451	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:6632451G>A	ENST00000299424.4	-	4	1013	c.536C>T	c.(535-537)aCg>aTg	p.T179M	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	179					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCGGAGGCCGTGCCCTTCAT	0.498													ENSG00000166337																																					0													70.0	73.0	72.0					11																	6632451		2201	4296	6497	SO:0001583	missense	0			-	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.536C>T	11.37:g.6632451G>A	ENSP00000299424:p.Thr179Met		O00703|Q13175|Q6FH13	Missense_Mutation	SNP	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.T179M	ENST00000299424.4	37	c.536	CCDS7769.1	11	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121279	0.56613	.	.	ENSG00000166337	ENST00000299424	T	0.46819	0.86	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	L	0.36672	1.1	0.80722	D	1	P	0.48640	0.913	B	0.40134	0.32	T	0.36407	-0.9749	10	0.48119	T	0.1	-5.9772	15.8045	0.78483	0.0:0.0:1.0:0.0	.	179	Q12962	TAF10_HUMAN	M	179	ENSP00000299424:T179M	ENSP00000299424:T179M	T	-	2	0	TAF10	6589027	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.369000	0.97156	2.589000	0.87451	0.655000	0.94253	ACG	-	TAF10	-	pirsf_TFIID_30kDa		0.498	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	HGNC	protein_coding	OTTHUMT00000257259.2	0	0	0	30	30	72	0.00	0.00	G	NM_006284		6632451	-1	8	16	14	30	tier1	no_errors	ENST00000299424	ensembl	human	known	74_37	missense	36.36	34.78	SNP	1.000	A	8	14
IPO4	79711	genome.wustl.edu	37	14	24655084	24655084	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:24655084G>A	ENST00000354464.6	-	12	1328	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	384					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGATGTGGTCGCCAGCTCCGT	0.582													ENSG00000196497																																					0													50.0	53.0	52.0					14																	24655084		2170	4266	6436	SO:0001819	synonymous_variant	0			-	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1152C>T	14.37:g.24655084G>A			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.G384	ENST00000354464.6	37	c.1152	CCDS9616.1	14																																																																																			-	IPO4	-	superfamily_ARM-type_fold		0.582	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	0	0	0	13	13	40	0.00	0.00	G	NM_024658		24655084	-1	14	29	13	16	tier1	no_errors	ENST00000354464	ensembl	human	known	74_37	silent	51.85	64.44	SNP	0.001	A	14	13
MACF1	23499	genome.wustl.edu	37	1	39800065	39800065	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:39800065G>C	ENST00000372915.3	+	36	7907	c.7820G>C	c.(7819-7821)gGa>gCa	p.G2607A	MACF1_ENST00000567887.1_Missense_Mutation_p.G2639A|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.G1042A|MACF1_ENST00000564288.1_Missense_Mutation_p.G2602A|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2607					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAAAAGAAGGACTGTTAACT	0.423													ENSG00000127603																																					0													72.0	74.0	73.0					1																	39800065		2203	4298	6501	SO:0001583	missense	0			-	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.7820G>C	1.37:g.39800065G>C	ENSP00000362006:p.Gly2607Ala		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G2639A	ENST00000372915.3	37	c.7916		1	.	.	.	.	.	.	.	.	.	.	G	8.394	0.840456	0.16891	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	D;D	0.85411	-1.98;-1.98	5.33	3.01	0.34805	.	0.315859	0.26731	N	0.022784	T	0.74412	0.3713	L	0.29908	0.895	0.80722	D	1	P	0.48694	0.914	B	0.38842	0.283	T	0.74532	-0.3634	10	0.59425	D	0.04	.	10.0856	0.42417	0.1957:0.0:0.8043:0.0	.	2607	Q9UPN3	MACF1_HUMAN	A	2607;1042	ENSP00000362006:G2607A;ENSP00000289893:G1042A	ENSP00000289893:G1042A	G	+	2	0	MACF1	39572652	1.000000	0.71417	0.803000	0.32268	0.822000	0.46500	3.739000	0.55075	0.910000	0.36722	0.561000	0.74099	GGA	-	MACF1	-	pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	0	0	0	59	59	47	0.00	0.00	G	NM_033044		39800065	+1	15	18	54	49	tier1	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	21.74	26.87	SNP	0.860	C	15	54
NUP93	9688	genome.wustl.edu	37	16	56867314	56867314	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:56867314G>T	ENST00000308159.5	+	13	1654	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H	NUP93_ENST00000542526.1_Missense_Mutation_p.Q388H|NUP93_ENST00000569842.1_Missense_Mutation_p.Q511H|NUP93_ENST00000564887.1_Missense_Mutation_p.Q388H	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	511					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGTGCTCAGCTCCGTGAGT	0.522													ENSG00000102900																									Colon(33;610 796 1305 1705 38917)												0													60.0	53.0	56.0					16																	56867314		2198	4300	6498	SO:0001583	missense	0			-	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1533G>T	16.37:g.56867314G>T	ENSP00000310668:p.Gln511His		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.Q511H	ENST00000308159.5	37	c.1533	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732448	0.69189	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.45276	0.9;0.9	5.63	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.63428	1.95	0.58432	D	0.999998	D	0.65815	0.995	D	0.65443	0.935	T	0.59621	-0.7420	10	0.56958	D	0.05	-17.3918	11.3593	0.49633	0.192:0.0:0.808:0.0	.	511	Q8N1F7	NUP93_HUMAN	H	511;388	ENSP00000310668:Q511H;ENSP00000440235:Q388H	ENSP00000310668:Q511H	Q	+	3	2	NUP93	55424815	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.537000	0.53590	1.351000	0.45789	0.655000	0.94253	CAG	-	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96		0.522	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	0	0	0	22	22	61	0.00	0.00	G	NM_014669		56867314	+1	13	15	23	58	tier1	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	36.11	20.55	SNP	1.000	T	13	23
ABCF1	23	genome.wustl.edu	37	6	30552061	30552061	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30552061G>A	ENST00000326195.8	+	13	1307	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Missense_Mutation_p.G361R|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	399	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCGGCTTCAGGGACAGCTGGA	0.597													ENSG00000204574																																					0													79.0	69.0	72.0					6																	30552061		1509	2708	4217	SO:0001583	missense	0			-	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1195G>A	6.37:g.30552061G>A	ENSP00000313603:p.Gly399Arg		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G399R	ENST00000326195.8	37	c.1195	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979091	0.34942	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.93247	-3.19;-3.19	4.82	3.05	0.35203	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.473208	0.23360	N	0.049029	T	0.71995	0.3406	N	0.04203	-0.255	0.80722	D	1	B;B;B	0.23128	0.08;0.009;0.009	B;B;B	0.25987	0.065;0.016;0.016	T	0.66196	-0.5984	10	0.36615	T	0.2	-6.876	6.5639	0.22501	0.3601:0.0:0.6399:0.0	.	361;399;399	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	R	399;361	ENSP00000313603:G399R;ENSP00000365728:G361R	ENSP00000313603:G399R	G	+	1	0	ABCF1	30660040	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	3.254000	0.51477	0.640000	0.30582	0.455000	0.32223	GGA	-	ABCF1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.597	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	0	0	0	35	35	29	0.00	0.00	G			30552061	+1	10	9	20	23	tier1	no_errors	ENST00000326195	ensembl	human	known	74_37	missense	33.33	28.12	SNP	0.997	A	10	20
SLC9A9	285195	genome.wustl.edu	37	3	143185954	143185954	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:143185954G>A	ENST00000316549.6	-	12	1602	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	465					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GAGGAGCAGCGTAGTGGTAAA	0.488													ENSG00000181804																																					0													160.0	132.0	142.0					3																	143185954		2203	4300	6503	SO:0001583	missense	0			-	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1394C>T	3.37:g.143185954G>A	ENSP00000320246:p.Thr465Met		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T465M	ENST00000316549.6	37	c.1394	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719191	0.89205	.	.	ENSG00000181804	ENST00000316549	T	0.16897	2.31	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.071648	0.64402	D	0.000020	T	0.51109	0.1655	M	0.88704	2.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.58364	-0.7649	10	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	465	Q8IVB4	SL9A9_HUMAN	M	465	ENSP00000320246:T465M	ENSP00000320246:T465M	T	-	2	0	SLC9A9	144668644	1.000000	0.71417	0.952000	0.39060	0.844000	0.47949	9.441000	0.97557	2.709000	0.92574	0.655000	0.94253	ACG	-	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.488	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	0	0	0	61	61	105	0.00	0.00	G	NM_173653		143185954	-1	27	34	43	74	tier1	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	38.57	31.48	SNP	1.000	A	27	43
CIB4	130106	genome.wustl.edu	37	2	26852317	26852317	+	Silent	SNP	C	C	T	rs376716139		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:26852317C>T	ENST00000288861.4	-	3	200	c.147G>A	c.(145-147)acG>acA	p.T49T		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	49							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATGGTGAGCGTTGCCTCCT	0.602													ENSG00000157884																																					0								C		0,4406		0,0,2203	82.0	58.0	66.0		147	-10.5	0.0	2		66	2,8592		0,2,4295	no	coding-synonymous	CIB4	NM_001029881.1		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		49/186	26852317	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	0			-		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.147G>A	2.37:g.26852317C>T			B2RU18	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.T49	ENST00000288861.4	37	c.147	CCDS33160.1	2																																																																																			-	CIB4	-	NULL		0.602	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	0	0	0	30	30	31	0.00	0.00	C			26852317	-1	7	4	26	29	tier1	no_errors	ENST00000288861	ensembl	human	known	74_37	silent	21.21	12.12	SNP	0.005	T	7	26
DAPK1	1612	genome.wustl.edu	37	9	90321168	90321168	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:90321168G>A	ENST00000408954.3	+	26	3517	c.3182G>A	c.(3181-3183)cGg>cAg	p.R1061Q	DAPK1_ENST00000358077.5_Missense_Mutation_p.R1061Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.R995Q|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1061Q|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1086Q	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1061					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CACCACTACCGGGGCCGCTAC	0.667									Chronic Lymphocytic Leukemia, Familial Clustering of				ENSG00000196730																																					0													28.0	33.0	31.0					9																	90321168		2070	4209	6279	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	-	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3182G>A	9.37:g.90321168G>A	ENSP00000386135:p.Arg1061Gln		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R1086Q	ENST00000408954.3	37	c.3257	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.380412	0.95945	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.66995	-0.21;-0.21;-0.23;-0.21;-0.24	5.72	5.72	0.89469	.	0.000000	0.49305	D	0.000146	T	0.77491	0.4138	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.964;0.999;0.964	B;P;B	0.58266	0.289;0.836;0.289	T	0.76462	-0.2950	10	0.48119	T	0.1	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	995;1061;1061	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	Q	1061;1061;1086;1061;995	ENSP00000350785:R1061Q;ENSP00000417076:R1061Q;ENSP00000418885:R1086Q;ENSP00000386135:R1061Q;ENSP00000419026:R995Q	ENSP00000350785:R1061Q	R	+	2	0	DAPK1	89510988	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	9.624000	0.98398	2.717000	0.92951	0.655000	0.94253	CGG	-	DAPK1	-	NULL		0.667	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	0	0	0	67	67	37	0.00	0.00	G	NM_004938		90321168	+1	13	3	39	17	tier1	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	24.53	15.00	SNP	1.000	A	13	39
NCOA5	57727	genome.wustl.edu	37	20	44698964	44698964	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:44698964C>T	ENST00000290231.6	-	3	414	c.250G>A	c.(250-252)Gtg>Atg	p.V84M		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCTCACGTCCCGAACG	0.532													ENSG00000124160																																					0													133.0	125.0	128.0					20																	44698964		2203	4300	6503	SO:0001583	missense	0			-		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.250G>A	20.37:g.44698964C>T	ENSP00000290231:p.Val84Met		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.V84M	ENST00000290231.6	37	c.250	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709469	0.30322	.	.	ENSG00000124160	ENST00000290231	T	0.47528	0.84	4.97	1.3	0.21679	.	0.329786	0.32002	N	0.006730	T	0.22781	0.0550	N	0.08118	0	0.19575	N	0.999969	B	0.06786	0.001	B	0.01281	0.0	T	0.13980	-1.0489	10	0.30078	T	0.28	-0.1234	7.3092	0.26465	0.0:0.0794:0.4236:0.497	.	84	Q9HCD5	NCOA5_HUMAN	M	84	ENSP00000290231:V84M	ENSP00000290231:V84M	V	-	1	0	NCOA5	44132371	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.283000	0.18846	0.048000	0.15891	-0.247000	0.11927	GTG	-	NCOA5	-	NULL		0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	0	0	0	34	34	44	0.00	0.00	C	NM_020967		44698964	-1	8	17	30	33	tier1	no_errors	ENST00000290231	ensembl	human	known	74_37	missense	21.05	34.00	SNP	0.999	T	8	30
RTEL1	51750	genome.wustl.edu	37	20	62294213	62294213	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:62294213G>A	ENST00000360203.5	+	6	834	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RTEL1_ENST00000508582.2_Missense_Mutation_p.R194H|RTEL1_ENST00000318100.4_Missense_Mutation_p.R170H|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R170H|RTEL1_ENST00000370018.3_Missense_Mutation_p.R170H					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGGCAAGTCGCTCCTGTCAT	0.592													ENSG00000258366																																					0													94.0	81.0	86.0					20																	62294213		2203	4300	6503	SO:0001583	missense	0			-	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.509G>A	20.37:g.62294213G>A	ENSP00000353332:p.Arg170His			Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_D_helicase_D-repair_Rad3	p.R170H	ENST00000360203.5	37	c.509		20	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741886	0.69304	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.05	4.09	0.47781	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.055025	0.64402	D	0.000001	T	0.61837	0.2379	L	0.39245	1.2	0.54753	D	0.99998	B;B;B;B	0.30439	0.067;0.154;0.279;0.237	B;B;B;B	0.31245	0.063;0.082;0.126;0.063	T	0.63037	-0.6726	10	0.42905	T	0.14	-31.3301	13.2283	0.59927	0.0775:0.0:0.9225:0.0	.	194;194;170;170	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	H	170;170;194;170;220	ENSP00000359035:R170H;ENSP00000322287:R170H;ENSP00000424307:R194H;ENSP00000353332:R170H;ENSP00000349265:R220H	ENSP00000349265:R220H	R	+	2	0	AL353715.1	61764657	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	4.664000	0.61540	2.518000	0.84900	0.511000	0.50034	CGC	-	RTEL1	-	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3		0.592	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	0	0	0	20	20	74	0.00	0.00	G	NM_032957		62294213	+1	17	12	24	56	tier1	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	41.46	17.65	SNP	1.000	A	17	24
PLPPR2	64748	genome.wustl.edu	37	19	11473210	11473210	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:11473210C>T	ENST00000251473.5	+	7	1061	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R204C	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTCGTGTTCCGCGTGAAGGG	0.657													ENSG00000105520																																					0													95.0	82.0	86.0					19																	11473210		2203	4300	6503	SO:0001583	missense	0			-																												ENST00000251473.5:c.685C>T	19.37:g.11473210C>T	ENSP00000251473:p.Arg229Cys			Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R204C	ENST00000251473.5	37	c.610	CCDS12258.1	19	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212731	0.58452	.	.	ENSG00000105520	ENST00000251473	T	0.47869	0.83	5.23	3.0	0.34707	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.049188	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42581	1.335	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.64877	0.886;0.93	T	0.55244	-0.8171	10	0.44086	T	0.13	-30.2659	12.3005	0.54872	0.4125:0.5875:0.0:0.0	.	204;229	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	C	229	ENSP00000251473:R229C	ENSP00000251473:R229C	R	+	1	0	AC024575.1	11334210	0.100000	0.21855	1.000000	0.80357	0.998000	0.95712	0.932000	0.28884	1.194000	0.43101	0.561000	0.74099	CGC	-	DKFZP761J1410	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase		0.657	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_gn	protein_coding	OTTHUMT00000458779.1	0	0	0	42	42	28	0.00	0.00	C			11473210	+1	18	13	16	21	tier1	no_errors	ENST00000591608	ensembl	human	known	74_37	missense	52.94	38.24	SNP	0.999	T	18	16
WDR47	22911	genome.wustl.edu	37	1	109554234	109554234	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:109554234C>T	ENST00000369962.3	-	5	656	c.434G>A	c.(433-435)cGt>cAt	p.R145H	WDR47_ENST00000357672.3_Missense_Mutation_p.R117H|WDR47_ENST00000369965.4_Missense_Mutation_p.R145H|WDR47_ENST00000400794.3_Missense_Mutation_p.R152H|WDR47_ENST00000361054.3_Missense_Mutation_p.R117H			O94967	WDR47_HUMAN	WD repeat domain 47	145					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTGGTCAGACGAGGCAAAGT	0.438													ENSG00000085433																																					0													168.0	167.0	167.0					1																	109554234		2203	4296	6499	SO:0001583	missense	0			-	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.434G>A	1.37:g.109554234C>T	ENSP00000358979:p.Arg145His		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R152H	ENST00000369962.3	37	c.455	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576015	0.86645	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.59364	0.3;0.33;0.27;0.29;0.27	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.83275	0.994;0.987;0.996;0.994	T	0.72763	-0.4195	10	0.87932	D	0	-41.3695	19.0307	0.92955	0.0:1.0:0.0:0.0	.	117;152;145;145	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	H	152;145;117;145;117;145;72;45	ENSP00000383599:R152H;ENSP00000358979:R145H;ENSP00000354339:R117H;ENSP00000358982:R145H;ENSP00000350301:R117H	ENSP00000350301:R117H	R	-	2	0	WDR47	109355757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.481000	0.83766	0.563000	0.77884	CGT	-	WDR47	-	NULL		0.438	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	0	0	0	92	92	79	0.00	0.00	C	NM_014969		109554234	-1	33	25	59	68	tier1	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	35.87	26.88	SNP	1.000	T	33	59
OR1C1	26188	genome.wustl.edu	37	1	247921501	247921501	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:247921501C>G	ENST00000408896.2	-	1	481	c.208G>C	c.(208-210)Gac>Cac	p.D70H		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	70					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGCAGATGTCAACAAAGGCC	0.483													ENSG00000221888																																					0													77.0	73.0	74.0					1																	247921501		2082	4238	6320	SO:0001583	missense	0			-	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.208G>C	1.37:g.247921501C>G	ENSP00000386138:p.Asp70His		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D70H	ENST00000408896.2	37	c.208	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247098	0.39697	.	.	ENSG00000221888	ENST00000408896	T	0.01185	5.21	2.81	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14356	0.0347	H	0.99169	4.455	0.34536	D	0.709752	D	0.89917	1.0	D	0.97110	1.0	T	0.53063	-0.8491	9	0.87932	D	0	.	13.6641	0.62384	0.0:1.0:0.0:0.0	.	70	Q15619	OR1C1_HUMAN	H	70	ENSP00000386138:D70H	ENSP00000386138:D70H	D	-	1	0	OR1C1	245988124	0.966000	0.33281	0.749000	0.31150	0.019000	0.09904	3.642000	0.54367	1.572000	0.49736	0.580000	0.79431	GAC	-	OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	0	0	0	61	61	51	0.00	0.00	C			247921501	-1	22	23	54	52	tier1	no_errors	ENST00000408896	ensembl	human	known	74_37	missense	28.95	30.67	SNP	0.980	G	22	54
GPR135	64582	genome.wustl.edu	37	14	59930509	59930509	+	Missense_Mutation	SNP	G	G	A	rs539098784		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:59930509G>A	ENST00000395116.1	-	1	1551	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	479						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGTCACTGCCGTCACCGGCTC	0.552													ENSG00000181619																																					0													46.0	52.0	50.0					14																	59930509		2203	4300	6503	SO:0001583	missense	0			-	AY288418	CCDS9738.1	14q23.1	2012-08-21			ENSG00000181619	ENSG00000181619		"""GPCR / Class A : Orphans"""	19991	protein-coding gene	gene with protein product		607970				14623098	Standard	NM_022571		Approved	HUMNPIIY20, PAFR	uc010apj.3	Q8IZ08	OTTHUMG00000140325	ENST00000395116.1:c.1436C>T	14.37:g.59930509G>A	ENSP00000378548:p.Thr479Met		Q7Z604|Q86SM3|Q8NH39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T479M	ENST00000395116.1	37	c.1436	CCDS9738.1	14	.	.	.	.	.	.	.	.	.	.	g	4.093	0.015335	0.07959	.	.	ENSG00000181619	ENST00000395116	T	0.62498	0.02	4.68	3.78	0.43462	.	0.894418	0.09471	N	0.797659	T	0.39963	0.1098	N	0.14661	0.345	0.51012	D	0.999903	B	0.33073	0.396	B	0.19391	0.025	T	0.15435	-1.0437	10	0.33940	T	0.23	-0.2345	7.5723	0.27915	0.0956:0.1689:0.7355:0.0	.	479	Q8IZ08	GP135_HUMAN	M	479	ENSP00000378548:T479M	ENSP00000378548:T479M	T	-	2	0	GPR135	59000262	0.576000	0.26700	0.014000	0.15608	0.006000	0.05464	3.883000	0.56168	1.184000	0.42957	0.651000	0.88453	ACG	-	GPR135	-	NULL		0.552	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR135	HGNC	protein_coding	OTTHUMT00000276941.1	0	0	0	39	39	64	0.00	0.00	G	NM_022571		59930509	-1	20	27	20	62	tier1	no_errors	ENST00000395116	ensembl	human	known	74_37	missense	50.00	30.34	SNP	0.122	A	20	20
SEZ6L	23544	genome.wustl.edu	37	22	26688805	26688805	+	Silent	SNP	C	C	T	rs371054914		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:26688805C>T	ENST00000248933.6	+	2	623	c.528C>T	c.(526-528)tcC>tcT	p.S176S	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.S176S|SEZ6L_ENST00000404234.3_Silent_p.S176S|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.S176S|SEZ6L_ENST00000529632.2_Silent_p.S176S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	176	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCGTGGCCTCCGAGGAGGCAT	0.657													ENSG00000100095																																					0								C	,,,,,	0,4406		0,0,2203	41.0	43.0	42.0		528,528,528,528,528,528	-7.1	0.0	22		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	176/1024,176/1014,176/1012,176/950,176/949,176/1025	26688805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.528C>T	22.37:g.26688805C>T			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S176	ENST00000248933.6	37	c.528	CCDS13833.1	22																																																																																			-	SEZ6L	-	NULL		0.657	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	0	0	0	91	91	69	0.00	0.00	C			26688805	+1	18	31	52	38	tier1	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	25.71	44.29	SNP	0.000	T	18	52
SEMA3D	223117	genome.wustl.edu	37	7	84651785	84651785	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:84651785C>T	ENST00000284136.6	-	11	1379	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	446	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTCTGTAATCCACATTGATT	0.418													ENSG00000153993																									Ovarian(63;442 1191 17318 29975 31528)												0													277.0	244.0	255.0					7																	84651785		2203	4300	6503	SO:0001583	missense	0			-	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1336G>A	7.37:g.84651785C>T	ENSP00000284136:p.Asp446Asn		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D446N	ENST00000284136.6	37	c.1336	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816667	0.70912	.	.	ENSG00000153993	ENST00000284136	T	0.09911	2.93	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.042855	0.85682	D	0.000000	T	0.16896	0.0406	N	0.21508	0.67	0.80722	D	1	D	0.54601	0.967	P	0.55785	0.784	T	0.05616	-1.0874	10	0.23891	T	0.37	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	446	O95025	SEM3D_HUMAN	N	446	ENSP00000284136:D446N	ENSP00000284136:D446N	D	-	1	0	SEMA3D	84489721	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.773000	0.85462	2.664000	0.90586	0.557000	0.71058	GAT	-	SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.418	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	0	0	0	31	31	12	0.00	0.00	C	NM_152754		84651785	-1	21	19	39	43	tier1	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	35.00	30.65	SNP	1.000	T	21	39
TOX3	27324	genome.wustl.edu	37	16	52473616	52473616	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:52473616A>T	ENST00000219746.9	-	7	1536	c.1252T>A	c.(1252-1254)Tcc>Acc	p.S418T	TOX3_ENST00000407228.3_Missense_Mutation_p.S413T	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	418					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTTCCCATGGAGCTTATCAGT	0.542													ENSG00000103460																																					0													163.0	160.0	161.0					16																	52473616		2160	4271	6431	SO:0001583	missense	0			-	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1252T>A	16.37:g.52473616A>T	ENSP00000219746:p.Ser418Thr		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S418T	ENST00000219746.9	37	c.1252	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495163	0.44352	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.12147	2.72;2.71	5.75	5.75	0.90469	.	0.156042	0.42053	D	0.000772	T	0.09158	0.0226	N	0.19112	0.55	0.37622	D	0.921333	D;P	0.53151	0.958;0.817	B;B	0.39465	0.3;0.237	T	0.35226	-0.9797	10	0.13470	T	0.59	.	16.056	0.80805	1.0:0.0:0.0:0.0	.	413;418	B4DRD0;O15405	.;TOX3_HUMAN	T	418;413	ENSP00000219746:S418T;ENSP00000385705:S413T	ENSP00000219746:S418T	S	-	1	0	TOX3	51031117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.985000	0.70556	2.178000	0.69098	0.533000	0.62120	TCC	-	TOX3	-	NULL		0.542	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	0	0	0	46	46	74	0.00	0.00	A	XM_049037		52473616	-1	23	32	21	50	tier1	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	52.27	39.02	SNP	1.000	T	23	21
SKA3	221150	genome.wustl.edu	37	13	21746492	21746492	+	Missense_Mutation	SNP	A	A	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:21746492A>T	ENST00000314759.5	-	3	441	c.317T>A	c.(316-318)gTc>gAc	p.V106D	SKA3_ENST00000400018.3_Missense_Mutation_p.V106D	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	106					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTTTTCTTGACACGTGGACT	0.308													ENSG00000165480																																					0													74.0	83.0	80.0					13																	21746492		2202	4294	6496	SO:0001583	missense	0			-	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.317T>A	13.37:g.21746492A>T	ENSP00000319417:p.Val106Asp		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	NULL	p.V106D	ENST00000314759.5	37	c.317	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412664	0.25465	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.21932	1.99;1.98	5.52	1.31	0.21738	.	0.967276	0.08619	N	0.918685	T	0.07098	0.0180	N	0.01705	-0.755	0.09310	N	0.999999	B;B	0.11235	0.0;0.004	B;B	0.10450	0.002;0.005	T	0.34551	-0.9824	10	0.38643	T	0.18	1.2954	1.5825	0.02637	0.2355:0.1526:0.4461:0.1659	.	106;106	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	D	106	ENSP00000319417:V106D;ENSP00000382896:V106D	ENSP00000319417:V106D	V	-	2	0	SKA3	20644492	0.002000	0.14202	0.730000	0.30809	0.928000	0.56348	-0.021000	0.12504	-0.070000	0.12908	-0.338000	0.08134	GTC	-	SKA3	-	NULL		0.308	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	HGNC	protein_coding	OTTHUMT00000272912.1	0	0	0	102	102	46	0.00	0.00	A	NM_145061		21746492	-1	8	19	68	37	tier1	no_errors	ENST00000314759	ensembl	human	known	74_37	missense	10.53	33.93	SNP	0.015	T	8	68
EDC3	80153	genome.wustl.edu	37	15	74932873	74932873	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:74932873C>T	ENST00000315127.4	-	5	1089	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	EDC3_ENST00000568176.1_Missense_Mutation_p.R303Q|EDC3_ENST00000426797.3_Missense_Mutation_p.R303Q	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	303	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				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)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CTCCAGTCTCCGCTCAAGGGT	0.512													ENSG00000179151																																					0													113.0	91.0	98.0					15																	74932873		2197	4296	6493	SO:0001583	missense	0			-	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.908G>A	15.37:g.74932873C>T	ENSP00000320503:p.Arg303Gln		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.R303Q	ENST00000315127.4	37	c.908	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920590	0.73213	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.39787	1.06;1.06	5.82	2.87	0.33458	YjeF-related protein, N-terminal (4);	0.056485	0.64402	D	0.000001	T	0.29588	0.0738	L	0.42245	1.32	0.80722	D	1	P	0.44478	0.836	B	0.37198	0.243	T	0.03761	-1.1006	10	0.54805	T	0.06	-11.2014	6.9921	0.24761	0.1317:0.6732:0.1267:0.0684	.	303	Q96F86	EDC3_HUMAN	Q	303	ENSP00000320503:R303Q;ENSP00000401343:R303Q	ENSP00000320503:R303Q	R	-	2	0	EDC3	72719926	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.180000	0.77674	0.349000	0.23975	0.655000	0.94253	CGG	-	EDC3	-	pfam_YjeF_N_dom,superfamily_YjeF_N_dom		0.512	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	0	0	0	29	29	52	0.00	0.00	C	NM_025083		74932873	-1	17	20	27	44	tier1	no_errors	ENST00000315127	ensembl	human	known	74_37	missense	38.64	31.25	SNP	1.000	T	17	27
PITPNM2	57605	genome.wustl.edu	37	12	123489025	123489025	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123489025G>A	ENST00000542749.1	-	6	1027	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	PITPNM2_ENST00000546049.1_Missense_Mutation_p.R360C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R322C|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000280562.5_Missense_Mutation_p.R322C|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	322					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATGCTGTGGCGGGAAGGACTC	0.622													ENSG00000090975																																					0													108.0	78.0	89.0					12																	123489025		2203	4300	6503	SO:0001583	missense	0			-	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.964C>T	12.37:g.123489025G>A	ENSP00000437611:p.Arg322Cys		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.R322C	ENST00000542749.1	37	c.964	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400110	0.42613	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.20598	2.06;2.06;2.06	4.57	3.65	0.41850	.	0.192546	0.46442	D	0.000289	T	0.17916	0.0430	L	0.35723	1.085	0.80722	D	1	B;B;B	0.15719	0.009;0.003;0.014	B;B;B	0.11329	0.006;0.004;0.003	T	0.05386	-1.0888	10	0.49607	T	0.09	-25.2541	13.4487	0.61158	0.0811:0.0:0.9189:0.0	.	322;322;322	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	C	322	ENSP00000280562:R322C;ENSP00000322218:R322C;ENSP00000437611:R322C	ENSP00000280562:R322C	R	-	1	0	PITPNM2	122054978	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.565000	0.67365	2.245000	0.73994	0.561000	0.74099	CGC	-	PITPNM2	-	NULL		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	0	0	0	38	38	48	0.00	0.00	G	NM_020845		123489025	-1	5	25	27	39	tier1	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	15.62	39.06	SNP	1.000	A	5	27
CAMTA2	23125	genome.wustl.edu	37	17	4875806	4875806	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:4875806C>T	ENST00000348066.3	-	16	2652	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	CAMTA2_ENST00000414043.3_Silent_p.S866S|CAMTA2_ENST00000572543.1_Silent_p.S848S|CAMTA2_ENST00000381311.5_Silent_p.S845S|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000358183.4_Silent_p.S843S|CAMTA2_ENST00000361571.5_Silent_p.S842S	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	843					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCGACAGCTCCGAGGGCGAGG	0.632													ENSG00000108509																																					0													13.0	14.0	14.0					17																	4875806		2199	4291	6490	SO:0001819	synonymous_variant	0			-	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2529G>A	17.37:g.4875806C>T			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	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-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.S866	ENST00000348066.3	37	c.2598	CCDS11063.1	17																																																																																			-	CAMTA2	-	NULL		0.632	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	0	0	0	17	17	20	0.00	0.00	C	NM_015099		4875806	-1	11	16	19	20	tier1	no_errors	ENST00000414043	ensembl	human	known	74_37	silent	36.67	44.44	SNP	0.623	T	11	19
ST6GAL1	6480	genome.wustl.edu	37	3	186760953	186760953	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:186760953G>A	ENST00000169298.3	+	4	1136	c.462G>A	c.(460-462)gaG>gaA	p.E154E	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.E154E	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	154					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCATGGTAGAGGTCACAGATT	0.547													ENSG00000073849																																					0													88.0	86.0	86.0					3																	186760953		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.462G>A	3.37:g.186760953G>A			A8KA14|B2R513|D3DNV3	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E154	ENST00000169298.3	37	c.462	CCDS3285.1	3																																																																																			-	ST6GAL1	-	pirsf_Sialyl_trans		0.547	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	0	0	0	24	24	45	0.00	0.00	G	NM_173216		186760953	+1	11	9	24	48	tier1	no_errors	ENST00000169298	ensembl	human	known	74_37	silent	31.43	15.52	SNP	0.992	A	11	24
FBLN1	2192	genome.wustl.edu	37	22	45938049	45938049	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:45938049G>A	ENST00000327858.6	+	10	1176	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.A361T|FBLN1_ENST00000340923.5_Missense_Mutation_p.A361T|FBLN1_ENST00000402984.3_Missense_Mutation_p.A399T|FBLN1_ENST00000442170.2_Missense_Mutation_p.A361T|FBLN1_ENST00000348697.2_Missense_Mutation_p.A361T	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	361	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGACGAGTGCGCGCCACCTGC	0.512													ENSG00000077942																																					0													109.0	113.0	111.0					22																	45938049		2203	4300	6503	SO:0001583	missense	0			-		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1081G>A	22.37:g.45938049G>A	ENSP00000331544:p.Ala361Thr		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.A361T	ENST00000327858.6	37	c.1081	CCDS14067.1	22	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705166	0.30232	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.16	-10.3	0.00346	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.582643	0.19472	N	0.113432	D	0.87877	0.6288	L	0.53617	1.68	0.09310	N	1	D;P;P;P	0.56035	0.974;0.943;0.905;0.811	P;P;B;B	0.47251	0.542;0.489;0.269;0.31	T	0.82335	-0.0508	10	0.17832	T	0.49	.	17.0851	0.86609	0.0854:0.0:0.718:0.1966	.	399;361;361;361	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	T	361;399;361;361;361;361	ENSP00000262723:A361T;ENSP00000385521:A399T;ENSP00000262722:A361T;ENSP00000331544:A361T;ENSP00000393812:A361T;ENSP00000342212:A361T	ENSP00000262722:A361T	A	+	1	0	FBLN1	44316713	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.012000	0.03649	-2.446000	0.00546	-0.274000	0.10170	GCG	-	FBLN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom		0.512	FBLN1-001	KNOWN	basic|CCDS	protein_coding	FBLN1	HGNC	protein_coding	OTTHUMT00000322287.1	0	0	0	36	36	59	0.00	0.00	G	NM_006486		45938049	+1	16	26	40	61	tier1	no_errors	ENST00000327858	ensembl	human	known	74_37	missense	28.57	29.89	SNP	0.000	A	16	40
NKD1	85407	genome.wustl.edu	37	16	50666204	50666204	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:50666204C>T	ENST00000268459.3	+	9	932	c.708C>T	c.(706-708)gaC>gaT	p.D236D		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	236					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCCAGGGTGACAGCCGCCTGG	0.557													ENSG00000140807																																					0													66.0	56.0	59.0					16																	50666204		2198	4300	6498	SO:0001819	synonymous_variant	0			-	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.708C>T	16.37:g.50666204C>T			B2RC39|Q8WZ08	Silent	SNP	pfscan_EF_hand_dom	p.D236	ENST00000268459.3	37	c.708	CCDS10743.1	16																																																																																			-	NKD1	-	NULL		0.557	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1	0	0	0	32	32	34	0.00	0.00	C			50666204	+1	6	22	25	41	tier1	no_errors	ENST00000268459	ensembl	human	known	74_37	silent	19.35	34.38	SNP	0.998	T	6	25
ANKRD13B	124930	genome.wustl.edu	37	17	27935228	27935228	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:27935228G>A	ENST00000394859.3	+	4	545	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	131						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GGACTTCTACGTGGAGATGAA	0.622													ENSG00000198720																																					0													84.0	78.0	80.0					17																	27935228		2203	4300	6503	SO:0001583	missense	0			-	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.391G>A	17.37:g.27935228G>A	ENSP00000378328:p.Val131Met		Q8N7S9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.V131M	ENST00000394859.3	37	c.391	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447750	0.84101	.	.	ENSG00000198720	ENST00000394859	T	0.54866	0.55	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	N	0.17901	0.54	0.80722	D	1	P	0.45634	0.863	B	0.43386	0.418	T	0.41360	-0.9513	10	0.45353	T	0.12	-28.7124	20.177	0.98182	0.0:0.0:1.0:0.0	.	131	Q86YJ7	AN13B_HUMAN	M	131	ENSP00000378328:V131M	ENSP00000378328:V131M	V	+	1	0	ANKRD13B	24959354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.953000	0.87836	2.854000	0.98071	0.655000	0.94253	GTG	-	ANKRD13B	-	NULL		0.622	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	0	0	0	64	64	91	0.00	0.00	G	NM_152345		27935228	+1	13	31	19	64	tier1	no_errors	ENST00000394859	ensembl	human	known	74_37	missense	40.62	32.29	SNP	1.000	A	13	19
OTULIN	90268	genome.wustl.edu	37	5	14692978	14692978	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:14692978C>T	ENST00000284274.4	+	7	958	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		294	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AATGTTCCTTCTTGCCTATGC	0.502													ENSG00000154124																																					0													147.0	148.0	148.0					5																	14692978		2022	4185	6207	SO:0001583	missense	0			-																												ENST00000284274.4:c.880C>T	5.37:g.14692978C>T	ENSP00000284274:p.Leu294Phe		D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	prints_FAM105,prints_FAM105B,prints_FAM105A	p.L294F	ENST00000284274.4	37	c.880	CCDS43302.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.071286|5.071286	0.93950|0.93950	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.20069|.	2.1|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78104|0.78104	0.4231|0.4231	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.77416|0.77416	-0.2596|-0.2596	10|5	0.87932|.	D|.	0|.	-13.8245|-13.8245	18.8787|18.8787	0.92349|0.92349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	294|.	Q96BN8|.	F105B_HUMAN|.	F|F	294|25	ENSP00000284274:L294F|.	ENSP00000284274:L294F|.	L|S	+|+	1|2	0|0	FAM105B|FAM105B	14745978|14745978	1.000000|1.000000	0.71417|0.71417	0.749000|0.749000	0.31150|0.31150	0.995000|0.995000	0.86356|0.86356	5.778000|5.778000	0.68940|0.68940	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	CTT|TCT	-	FAM105B	-	prints_FAM105		0.502	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	HGNC	protein_coding	OTTHUMT00000366012.1	0	0	0	28	28	42	0.00	0.00	C			14692978	+1	15	23	25	60	tier1	no_errors	ENST00000284274	ensembl	human	known	74_37	missense	37.50	27.71	SNP	1.000	T	15	25
RARS	5917	genome.wustl.edu	37	5	167946112	167946112	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:167946112C>T	ENST00000231572.3	+	15	1954	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	RARS_ENST00000538719.1_Missense_Mutation_p.R428C	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	634					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GAACATGTGGCGTATGCTGCT	0.348													ENSG00000113643																																					0													87.0	83.0	84.0					5																	167946112		2203	4300	6503	SO:0001583	missense	0			-	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1900C>T	5.37:g.167946112C>T	ENSP00000231572:p.Arg634Cys		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tR-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tR-synth_N,superfamily_tRsynth_1a_anticodon-bd,superfamily_Arg-tR-synth_N,smart_DALR_anticod-bd,prints_Arg-tR-synth_Ia_core,tigrfam_Arg-tR-ligase_Ia	p.R634C	ENST00000231572.3	37	c.1900	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478719	0.63849	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	D;D	0.90504	-2.68;-2.68	5.78	4.84	0.62591	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.054331	0.64402	D	0.000002	D	0.97031	0.9030	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97948	1.0330	10	0.87932	D	0	-9.0398	15.4314	0.75102	0.1656:0.8344:0.0:0.0	.	634	P54136	SYRC_HUMAN	C	634;428	ENSP00000231572:R634C;ENSP00000439108:R428C	ENSP00000231572:R634C	R	+	1	0	RARS	167878690	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	1.636000	0.37144	2.722000	0.93159	0.655000	0.94253	CGT	-	RARS	-	pfam_DALR_anticod-bd,superfamily_tRsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tR-ligase_Ia		0.348	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	0	0	0	85	85	59	0.00	0.00	C	NM_002887		167946112	+1	15	21	83	79	tier1	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	15.15	21.00	SNP	1.000	T	15	83
MYO16	23026	genome.wustl.edu	37	13	109779832	109779832	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:109779832C>T	ENST00000357550.2	+	30	3960	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	MYO16_ENST00000457511.2_Missense_Mutation_p.R819W|MYO16_ENST00000356711.2_Missense_Mutation_p.R1307W	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCAACACCCGGCTGAGTGC	0.657													ENSG00000041515																																					0													30.0	33.0	32.0					13																	109779832		2203	4300	6503	SO:0001583	missense	0			-		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3919C>T	13.37:g.109779832C>T	ENSP00000350160:p.Arg1307Trp			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1307W	ENST00000357550.2	37	c.3919	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636499	0.67130	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.58210	0.35;0.35;0.35	5.5	3.74	0.42951	.	0.000000	0.36703	U	0.002444	T	0.67785	0.2930	M	0.69823	2.125	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66011	-0.6029	9	.	.	.	.	9.7949	0.40728	0.2829:0.5806:0.1365:0.0	.	819;1307	F8W883;Q9Y6X6	.;MYO16_HUMAN	W	1307;1307;819	ENSP00000349145:R1307W;ENSP00000350160:R1307W;ENSP00000401633:R819W	.	R	+	1	2	MYO16	108577833	0.070000	0.21116	0.989000	0.46669	0.857000	0.48899	0.467000	0.22035	0.656000	0.30886	-0.309000	0.09137	CGG	-	MYO16	-	NULL		0.657	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	0	0	0	114	114	53	0.00	0.00	C	NM_015011		109779832	+1	21	13	33	48	tier1	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	38.89	21.31	SNP	0.983	T	21	33
DNMT3A	1788	genome.wustl.edu	37	2	25464487	25464487	+	Missense_Mutation	SNP	G	G	A	rs375399431		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:25464487G>A	ENST00000264709.3	-	17	2363	c.2026C>T	c.(2026-2028)Cgg>Tgg	p.R676W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R676W|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R487W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R453W|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	676	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R676W(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTGGTGCCGCACCATGCCC	0.627			"""Mis, F, N, S"""		AML								ENSG00000119772																												Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	149.0	95.0	113.0		2026,1459,2026	5.4	1.0	2		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	676/913,487/724,676/913	25464487	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2026C>T	2.37:g.25464487G>A	ENSP00000264709:p.Arg676Trp		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.R676W	ENST00000264709.3	37	c.2026	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837170	0.91117	0.0	1.16E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.44	5.44	0.79542	.	0.115412	0.64402	D	0.000013	D	0.98074	0.9365	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.66602	0.935;0.945	D	0.98657	1.0682	10	0.87932	D	0	-10.3061	13.6788	0.62472	0.0:0.0:0.845:0.155	.	676;487	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	W	487;676;676;453	ENSP00000370122:R487W;ENSP00000324375:R676W;ENSP00000264709:R676W;ENSP00000384237:R453W	ENSP00000264709:R676W	R	-	1	2	DNMT3A	25317991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.995000	0.57001	2.568000	0.86640	0.555000	0.69702	CGG	-	DNMT3A	-	pfam_C5_MeTfrase		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	0	0	0	13	13	29	0.00	0.00	G	NM_022552		25464487	-1	10	9	14	17	tier1	no_errors	ENST00000264709	ensembl	human	known	74_37	missense	41.67	34.62	SNP	1.000	A	10	14
MYO10	4651	genome.wustl.edu	37	5	16670877	16670877	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:16670877G>A	ENST00000513610.1	-	39	6095	c.5641C>T	c.(5641-5643)Cgg>Tgg	p.R1881W	MYO10_ENST00000274203.9_Missense_Mutation_p.R1238W|MYO10_ENST00000427430.2_Missense_Mutation_p.R1238W|MYO10_ENST00000505695.1_Missense_Mutation_p.R1220W|MYO10_ENST00000515803.1_Missense_Mutation_p.R1220W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1881	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AAGCTCGTCCGCCTCTTCTCC	0.582													ENSG00000145555																																					0													52.0	55.0	54.0					5																	16670877		1910	4130	6040	SO:0001583	missense	0			-	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5641C>T	5.37:g.16670877G>A	ENSP00000421280:p.Arg1881Trp		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.R1881W	ENST00000513610.1	37	c.5641	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237422	0.79800	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88586	-2.3;-2.4;-2.32;-2.4;-2.32	5.92	5.03	0.67393	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.	.	.	.	D	0.93609	0.7959	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.979;0.991;0.994	D	0.93450	0.6801	9	0.48119	T	0.1	.	13.9949	0.64390	0.0:0.0:0.7247:0.2753	.	760;1521;1881	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	W	1881;1220;1238;1220;1238	ENSP00000421280:R1881W;ENSP00000425051:R1220W;ENSP00000274203:R1238W;ENSP00000421170:R1220W;ENSP00000391106:R1238W	ENSP00000274203:R1238W	R	-	1	2	MYO10	16723877	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.974000	0.56852	1.457000	0.47850	0.655000	0.94253	CGG	-	MYO10	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain		0.582	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	0	0	0	29	29	55	0.00	0.00	G	NM_012334		16670877	-1	7	14	28	80	tier1	no_errors	ENST00000513610	ensembl	human	known	74_37	missense	19.44	14.89	SNP	1.000	A	7	28
MPZL1	9019	genome.wustl.edu	37	1	167745358	167745358	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:167745358C>T	ENST00000359523.2	+	5	865	c.663C>T	c.(661-663)tcC>tcT	p.S221S	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Intron|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	221					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGTCCCCCTCCGACACTGAGG	0.468													ENSG00000197965																																					0													76.0	73.0	74.0					1																	167745358		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.663C>T	1.37:g.167745358C>T			B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.S221	ENST00000359523.2	37	c.663	CCDS1264.1	1																																																																																			-	MPZL1	-	NULL		0.468	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	0	0	0	43	43	51	0.00	0.00	C	NM_024569		167745358	+1	15	9	31	52	tier1	no_errors	ENST00000359523	ensembl	human	known	74_37	silent	32.61	14.75	SNP	0.997	T	15	31
BAIAP2	10458	genome.wustl.edu	37	17	79027510	79027510	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:79027510G>A	ENST00000321300.6	+	2	190	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	BAIAP2_ENST00000575712.1_Missense_Mutation_p.A33T|BAIAP2_ENST00000435091.3_Missense_Mutation_p.A33T|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321280.7_Missense_Mutation_p.A33T|BAIAP2_ENST00000428708.2_Missense_Mutation_p.A33T|BAIAP2_ENST00000575245.1_Missense_Mutation_p.A66T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	33	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAACTTCATCGCCATGGGGAA	0.602													ENSG00000175866																																					0													149.0	131.0	137.0					17																	79027510		2203	4300	6503	SO:0001583	missense	0			-	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.97G>A	17.37:g.79027510G>A	ENSP00000316338:p.Ala33Thr		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A33T	ENST00000321300.6	37	c.97	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584695	0.13749	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.34	4.32	0.51571	IRSp53/MIM homology domain (IMD) (3);	0.128369	0.51477	D	0.000092	T	0.17365	0.0417	N	0.22421	0.69	0.80722	D	1	P;B;B;B;B;B	0.38677	0.642;0.162;0.205;0.162;0.361;0.162	B;B;B;B;B;B	0.20184	0.026;0.015;0.028;0.015;0.015;0.019	T	0.08680	-1.0710	10	0.11794	T	0.64	-1.9757	12.406	0.55441	0.0:0.0:0.7677:0.2323	.	33;33;33;33;33;33	Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	BAIP2_HUMAN;.;.;.;.;.	T	33	ENSP00000316338:A33T;ENSP00000401022:A33T;ENSP00000413069:A33T;ENSP00000315685:A33T	ENSP00000315685:A33T	A	+	1	0	BAIAP2	76642105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.474000	0.53129	2.496000	0.84212	0.655000	0.94253	GCC	-	BAIAP2	-	pfam_IRSp53/MIM_homology_IMD		0.602	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	0	0	0	49	49	73	0.00	0.00	G			79027510	+1	12	14	54	60	tier1	no_errors	ENST00000321300	ensembl	human	known	74_37	missense	17.91	18.92	SNP	1.000	A	12	54
COL7A1	1294	genome.wustl.edu	37	3	48626118	48626118	+	Silent	SNP	G	G	A	rs139545952	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:48626118G>A	ENST00000328333.8	-	19	2651	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V	COL7A1_ENST00000454817.1_Silent_p.V848V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	848	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGCGGTCCCCGACAAGTGCAG	0.592													ENSG00000114270	G|||	2	0.000399361	0.0	0.0014	5008	,	,		19537	0.0		0.001	False		,,,				2504	0.0																0								G		2,4404	4.2+/-10.8	0,2,2201	73.0	70.0	71.0		2544	-10.8	0.0	3	dbSNP_134	71	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	COL7A1	NM_000094.3		0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384		848/2945	48626118	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2544C>T	3.37:g.48626118G>A			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.V848	ENST00000328333.8	37	c.2544	CCDS2773.1	3																																																																																			rs139545952	COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	0	0	0	26	26	20	0.00	0.00	G	NM_000094		48626118	-1	13	15	21	31	tier1	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	38.24	32.61	SNP	0.001	A	13	21
PDE4B	5142	genome.wustl.edu	37	1	66834587	66834587	+	Silent	SNP	C	C	A	rs201667673		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:66834587C>A	ENST00000329654.4	+	16	1967	c.1780C>A	c.(1780-1782)Cgg>Agg	p.R594R	PDE4B_ENST00000480109.2_Silent_p.R361R|PDE4B_ENST00000423207.2_Silent_p.R579R|PDE4B_ENST00000371049.3_Silent_p.R594R|PDE4B_ENST00000371045.5_Silent_p.R422R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	594					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGACAAAGAGCGGGAGAGGGG	0.458													ENSG00000184588																																					0													94.0	91.0	92.0					1																	66834587		2203	4300	6503	SO:0001819	synonymous_variant	0			-	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1780C>A	1.37:g.66834587C>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R594	ENST00000329654.4	37	c.1780	CCDS632.1	1																																																																																			-	PDE4B	-	pfam_PDEase_catalytic_dom		0.458	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	0	0	0	50	50	56	0.00	0.00	C	NM_002600		66834587	+1	25	38	36	51	tier1	no_errors	ENST00000329654	ensembl	human	known	74_37	silent	40.98	42.70	SNP	0.998	A	25	36
TLN1	7094	genome.wustl.edu	37	9	35705597	35705597	+	Missense_Mutation	SNP	C	C	T	rs567336438		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:35705597C>T	ENST00000314888.9	-	43	6037	c.5684G>A	c.(5683-5685)cGt>cAt	p.R1895H	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1895	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGGCCAGACGGCCATAGTC	0.562													ENSG00000137076																																					0													61.0	64.0	63.0					9																	35705597		2203	4300	6503	SO:0001583	missense	0			-	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5684G>A	9.37:g.35705597C>T	ENSP00000316029:p.Arg1895His		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R1895H	ENST00000314888.9	37	c.5684	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	c	9.223	1.033886	0.19590	.	.	ENSG00000137076	ENST00000314888	T	0.30981	1.51	5.66	3.82	0.43975	Vinculin-binding site-containing domain (1);	0.418407	0.29212	N	0.012806	T	0.09642	0.0237	N	0.01352	-0.895	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.09143	-1.0688	10	0.28530	T	0.3	-0.8644	5.5485	0.17078	0.0:0.6364:0.0:0.3636	.	1895	Q9Y490	TLN1_HUMAN	H	1895	ENSP00000316029:R1895H	ENSP00000316029:R1895H	R	-	2	0	TLN1	35695597	1.000000	0.71417	0.958000	0.39756	0.953000	0.61014	4.894000	0.63206	1.404000	0.46819	-0.226000	0.12346	CGT	-	TLN1	-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin		0.562	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	0	0	0	37	37	37	0.00	0.00	C	NM_006289		35705597	-1	11	3	17	27	tier1	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	39.29	10.00	SNP	0.971	T	11	17
CSPG5	10675	genome.wustl.edu	37	3	47618363	47618363	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:47618363C>T	ENST00000383738.2	-	2	3251	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	CSPG5_ENST00000264723.4_Missense_Mutation_p.G385S|CSPG5_ENST00000456150.1_Missense_Mutation_p.G247S|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	385	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAGCACTGGCCGCCATTGTGA	0.572													ENSG00000114646																																					0													178.0	187.0	184.0					3																	47618363		2203	4300	6503	SO:0001583	missense	0			-	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1153G>A	3.37:g.47618363C>T	ENSP00000373244:p.Gly385Ser		Q71M39|Q71M40	Missense_Mutation	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.G385S	ENST00000383738.2	37	c.1153	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.729549	0.96856	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.75938	-0.29;-0.98;-0.79	4.63	4.63	0.57726	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.77616	2.38	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87739	0.2584	10	0.87932	D	0	-21.2783	15.0117	0.71555	0.0:1.0:0.0:0.0	.	385;385	O95196;O95196-2	CSPG5_HUMAN;.	S	247;385;385	ENSP00000392096:G247S;ENSP00000373244:G385S;ENSP00000264723:G385S	ENSP00000264723:G385S	G	-	1	0	CSPG5	47593367	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.018000	0.76406	2.385000	0.81259	0.655000	0.94253	GGC	-	CSPG5	-	NULL		0.572	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	0	0	0	27	27	56	0.00	0.00	C	NM_006574		47618363	-1	15	19	20	48	tier1	no_errors	ENST00000383738	ensembl	human	known	74_37	missense	42.86	28.36	SNP	1.000	T	15	20
BDH2	56898	genome.wustl.edu	37	4	104012389	104012389	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:104012389G>A	ENST00000296424.4	-	5	422	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	101					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GAGATTCATCGAGAAGTCCCA	0.428													ENSG00000164039																																					0													134.0	115.0	121.0					4																	104012389		2203	4300	6503	SO:0001583	missense	0			-	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.302C>T	4.37:g.104012389G>A	ENSP00000296424:p.Ser101Leu		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.S101L	ENST00000296424.4	37	c.302	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754244	0.89843	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;D;D	0.86694	2.09;-2.16;-2.16	4.8	3.89	0.44902	NAD(P)-binding domain (1);	0.222920	0.44688	D	0.000427	T	0.79155	0.4398	N	0.04148	-0.265	0.43994	D	0.996693	D	0.56746	0.977	P	0.50162	0.633	D	0.84113	0.0402	10	0.72032	D	0.01	.	13.7076	0.62648	0.0:0.1557:0.8443:0.0	.	101	Q9BUT1	BDH2_HUMAN	L	101	ENSP00000296424:S101L;ENSP00000427442:S101L;ENSP00000422891:S101L	ENSP00000296424:S101L	S	-	2	0	BDH2	104231838	1.000000	0.71417	0.935000	0.37517	0.972000	0.66771	5.756000	0.68757	2.355000	0.79922	0.591000	0.81541	TCG	-	BDH2	-	pfam_DH_sc/Rdtase_SDR,prints_DHB_DH		0.428	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2	0	0	0	30	30	68	0.00	0.00	G	NM_020139		104012389	-1	4	11	33	54	tier1	no_errors	ENST00000296424	ensembl	human	known	74_37	missense	10.81	16.67	SNP	1.000	A	4	33
TFCP2L1	29842	genome.wustl.edu	37	2	122000043	122000043	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:122000043C>T	ENST00000263707.5	-	7	757	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	220					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CGGCTCCCTTCGGCTGCGAGC	0.582													ENSG00000115112																																					0													218.0	212.0	214.0					2																	122000043		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.660G>A	2.37:g.122000043C>T			Q4ZG43	Silent	SNP	pfam_CP2,superfamily_SAM/pointed	p.P220	ENST00000263707.5	37	c.660	CCDS2134.1	2																																																																																			-	TFCP2L1	-	pfam_CP2		0.582	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1	0	0	0	28	28	55	0.00	0.00	C	NM_014553		122000043	-1	4	8	33	59	tier1	no_errors	ENST00000263707	ensembl	human	known	74_37	silent	10.81	11.94	SNP	0.294	T	4	33
AHNAK2	113146	genome.wustl.edu	37	14	105415468	105415468	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:105415468A>G	ENST00000333244.5	-	7	6439	c.6320T>C	c.(6319-6321)aTg>aCg	p.M2107T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2107			M -> V (in dbSNP:rs11846918).			costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGACTCTCATTTCCACCTT	0.597													ENSG00000185567																																					0													138.0	94.0	112.0					14																	105415468		1878	2861	4739	SO:0001583	missense	0			-	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6320T>C	14.37:g.105415468A>G	ENSP00000353114:p.Met2107Thr		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M2107T	ENST00000333244.5	37	c.6320	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	N	8.356	0.832114	0.16820	.	.	ENSG00000185567	ENST00000333244	T	0.01178	5.22	3.75	-1.71	0.08133	.	.	.	.	.	T	0.00845	0.0028	N	0.25485	0.75	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.48387	-0.9040	9	0.40728	T	0.16	.	0.8318	0.01132	0.4714:0.1651:0.2028:0.1607	.	2107	Q8IVF2	AHNK2_HUMAN	T	2107	ENSP00000353114:M2107T	ENSP00000353114:M2107T	M	-	2	0	AHNAK2	104486513	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	1.069000	0.30641	-0.167000	0.10871	0.254000	0.18369	ATG	-	AHK2	-	NULL		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHK2	HGNC	protein_coding	OTTHUMT00000410300.1	0	0	0	70	70	20	0.00	0.00	A	NM_138420		105415468	-1	14	5	68	32	tier1	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	17.07	13.51	SNP	0.001	G	14	68
NEK10	152110	genome.wustl.edu	37	3	27216186	27216186	+	Missense_Mutation	SNP	C	C	T	rs371393406		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:27216186C>T	ENST00000429845.2	-	28	3006	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000357467.2_Missense_Mutation_p.E279K|NEK10_ENST00000383770.3_Missense_Mutation_p.E194K|NEK10_ENST00000295720.6_Missense_Mutation_p.E194K|NEK10_ENST00000383771.4_Missense_Mutation_p.E194K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	882					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACAGGATTTCGTCACAGGCC	0.507													ENSG00000163491																																					0								C		0,4406		0,0,2203	137.0	128.0	131.0			5.9	0.5	3		131	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			27216186	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2644G>A	3.37:g.27216186C>T	ENSP00000395849:p.Glu882Lys		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.E194K	ENST00000429845.2	37	c.580		3	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334535	0.60853	0.0	1.16E-4	ENSG00000163491	ENST00000295720;ENST00000383771;ENST00000383770;ENST00000357467	T;T;T;T	0.73258	2.78;2.85;3.06;-0.73	5.91	5.91	0.95273	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.29576	N	0.849495	P;P;P	0.40931	0.733;0.733;0.555	B;B;B	0.33392	0.113;0.163;0.023	T	0.53034	-0.8495	8	0.15952	T	0.53	.	18.485	0.90825	0.0:1.0:0.0:0.0	.	194;194;279	Q6ZWH5-5;Q6ZWH5-7;Q8N774	.;.;.	K	194;194;194;279	ENSP00000295720:E194K;ENSP00000373281:E194K;ENSP00000373280:E194K;ENSP00000350059:E279K	ENSP00000295720:E194K	E	-	1	0	NEK10	27191190	0.825000	0.29262	0.543000	0.28128	0.949000	0.60115	3.110000	0.50352	2.807000	0.96579	0.557000	0.71058	GAA	-	NEK10	-	NULL		0.507	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	0	0	0	20	20	45	0.00	0.00	C	NM_152534		27216186	-1	16	37	36	55	tier1	no_errors	ENST00000383771	ensembl	human	known	74_37	missense	30.77	40.22	SNP	0.880	T	16	36
ZFPM2	23414	genome.wustl.edu	37	8	106813689	106813689	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:106813689C>T	ENST00000407775.2	+	8	1629	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	ZFPM2_ENST00000378472.4_Missense_Mutation_p.T191I|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T328I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T328I|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	460					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCTACAACAAATAAACAA	0.443													ENSG00000169946																																					0													71.0	76.0	74.0					8																	106813689		1856	4095	5951	SO:0001583	missense	0			-	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1379C>T	8.37:g.106813689C>T	ENSP00000384179:p.Thr460Ile		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T460I	ENST00000407775.2	37	c.1379	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417180	0.25552	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20069	2.1;2.58;2.58;3.79	5.97	5.09	0.68999	.	0.889888	0.09766	N	0.758578	T	0.20740	0.0499	L	0.29908	0.895	0.19300	N	0.999974	B	0.23735	0.09	B	0.20577	0.03	T	0.25502	-1.0130	10	0.37606	T	0.19	.	17.2323	0.86988	0.0:0.8742:0.1258:0.0	.	460	Q8WW38	FOG2_HUMAN	I	460;328;328;191	ENSP00000384179:T460I;ENSP00000430757:T328I;ENSP00000428720:T328I;ENSP00000367733:T191I	ENSP00000367733:T191I	T	+	2	0	ZFPM2	106882865	0.911000	0.30947	0.017000	0.16124	0.983000	0.72400	7.629000	0.83207	1.507000	0.48752	0.655000	0.94253	ACA	-	ZFPM2	-	NULL		0.443	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	0	0	0	45	45	63	0.00	0.00	C			106813689	+1	14	24	39	56	tier1	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	26.42	30.00	SNP	0.175	T	14	39
PRRC2B	84726	genome.wustl.edu	37	9	134360348	134360348	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:134360348G>A	ENST00000357304.4	+	24	5634	c.5579G>A	c.(5578-5580)cGc>cAc	p.R1860H	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1166H|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1166H	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1860							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGTCTGCGCGCAAGGCTTGG	0.602													ENSG00000130723																																					0													21.0	24.0	23.0					9																	134360348		2044	4199	6243	SO:0001583	missense	0			-	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5579G>A	9.37:g.134360348G>A	ENSP00000349856:p.Arg1860His		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.R1860H	ENST00000357304.4	37	c.5579	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.364771	0.95877	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.13089	2.62;2.92;2.62	5.24	5.24	0.73138	.	0.165134	0.28349	U	0.015675	T	0.35998	0.0951	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.05289	-1.0894	10	0.72032	D	0.01	-29.4745	17.8639	0.88790	0.0:0.0:1.0:0.0	.	1166;1860	Q5JSZ5-5;Q5JSZ5	.;PRC2B_HUMAN	H	1166;1860;1166	ENSP00000384606:R1166H;ENSP00000349856:R1860H;ENSP00000398853:R1166H	ENSP00000349856:R1860H	R	+	2	0	PRRC2B	133350169	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.451000	0.82905	0.555000	0.69702	CGC	-	PRRC2B	-	NULL		0.602	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		0	0	1	45	45	49	0.00	1.96	G			134360348	+1	16	22	34	28	tier1	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	32.00	44.00	SNP	1.000	A	16	34
CD99	4267	genome.wustl.edu	37	X	2651511	2651511	+	Intron	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:2651511G>A	ENST00000381192.3	+	9	657				CD99_ENST00000381184.1_3'UTR|CD99_ENST00000381187.3_Intron|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						TCCATCTGCCGCTCCCCTCGC	0.537													ENSG00000002586	.|||	1	0.000199681	0.0	0.0014	5008	,	,		18091	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			-	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.476-4730G>A	X.37:g.2651511G>A			A6NIW1|O00518|Q6ICV7	R	SNP	-	NULL	ENST00000381192.3	37	NULL	CCDS14119.1	X																																																																																			-	CD99	-	-		0.537	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	0	0	0	99	99	61	0.00	0.00	G	NM_001122898		2651511	+1	37	35	58	57	tier1	no_errors	ENST00000482405	ensembl	human	known	74_37	rna	38.14	38.04	SNP	0.000	A	37	58
SLC4A5	57835	genome.wustl.edu	37	2	74492351	74492351	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:74492351G>A	ENST00000377634.4	-	9	841	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	SLC4A5_ENST00000358683.4_Missense_Mutation_p.R84C|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R148C|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R148C|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R148C|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R84C|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R148C|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R148C					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGCTCCAGCGTTCGCCGCCT	0.607													ENSG00000188687																																					0													148.0	139.0	142.0					2																	74492351		2203	4300	6503	SO:0001583	missense	0			-	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.442C>T	2.37:g.74492351G>A	ENSP00000366861:p.Arg148Cys			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R148C	ENST00000377634.4	37	c.442	CCDS1936.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078579	0.76528	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.79	3.84	0.44239	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	H	0.96142	3.775	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.89086	0.3479	10	0.87932	D	0	.	9.8849	0.41255	0.0:0.0:0.7026:0.2974	.	148;148;84;148;148	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	C	148;148;148;84;148;84;148;148;148;148;32	ENSP00000377587:R148C;ENSP00000251768:R148C;ENSP00000352461:R84C;ENSP00000395804:R148C;ENSP00000351513:R84C;ENSP00000350475:R148C;ENSP00000366859:R148C;ENSP00000366861:R148C;ENSP00000405678:R148C;ENSP00000414162:R32C	ENSP00000251768:R148C	R	-	1	0	SLC4A5	74345859	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	1.164000	0.31810	2.641000	0.89580	0.591000	0.81541	CGC	-	SLC4A5	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk		0.607	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	0	0	0	39	39	54	0.00	0.00	G			74492351	-1	9	25	35	46	tier1	no_errors	ENST00000357822	ensembl	human	known	74_37	missense	20.45	35.21	SNP	0.999	A	9	35
CDC45	8318	genome.wustl.edu	37	22	19481886	19481886	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:19481886C>T	ENST00000407835.1	+	7	779	c.523C>T	c.(523-525)Cga>Tga	p.R175*	CDC45_ENST00000437685.2_Nonsense_Mutation_p.R175*|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000404724.3_Nonsense_Mutation_p.R129*|CDC45_ENST00000263201.1_Nonsense_Mutation_p.R175*			O75419	CDC45_HUMAN	cell division cycle 45	175					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAGGCAGCGGCGAGAGTGGGA	0.582													ENSG00000093009																																					0													77.0	77.0	77.0					22																	19481886		2203	4300	6503	SO:0001587	stop_gained	0			-	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.523C>T	22.37:g.19481886C>T	ENSP00000385240:p.Arg175*		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Nonsense_Mutation	SNP	pfam_CDC45	p.R175*	ENST00000407835.1	37	c.523	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	C	5.156	0.214412	0.09810	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	.	.	.	4.7	2.54	0.30619	.	0.205916	0.49305	D	0.000157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3185	10.8178	0.46587	0.4357:0.5643:0.0:0.0	.	.	.	.	X	175;175;175;129	.	ENSP00000263201:R175X	R	+	1	2	CDC45	17861886	0.820000	0.29190	0.762000	0.31397	0.123000	0.20343	1.618000	0.36954	0.305000	0.22832	-0.457000	0.05445	CGA	-	CDC45	-	pfam_CDC45		0.582	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	0	0	0	43	43	30	0.00	0.00	C	NM_003504		19481886	+1	9	5	52	38	tier1	no_errors	ENST00000437685	ensembl	human	known	74_37	nonsense	14.75	11.63	SNP	0.882	T	9	52
IL9R	3581	genome.wustl.edu	37	X	155239605	155239605	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:155239605C>A	ENST00000244174.5	+	9	1276	c.1097C>A	c.(1096-1098)cCt>cAt	p.P366H	IL9R_ENST00000424344.3_Missense_Mutation_p.P345H|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	366					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGCGCGTCCTTGGAAATCT	0.657													ENSG00000124334																																					0													40.0	69.0	60.0					X																	155239605		1970	4257	6227	SO:0001583	missense	0			-	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1097C>A	X.37:g.155239605C>A	ENSP00000244174:p.Pro366His		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.P366H	ENST00000244174.5	37	c.1097	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	10.53	1.376913	0.24857	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12879	2.64;2.64	1.44	1.44	0.22558	.	1.694830	0.03491	N	0.216608	T	0.31979	0.0814	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.09751	-1.0660	9	0.72032	D	0.01	-7.8003	5.8372	0.18613	0.0:1.0:0.0:0.0	.	366	Q01113	IL9R_HUMAN	H	366;345	ENSP00000244174:P366H;ENSP00000388918:P345H	ENSP00000244174:P366H	P	+	2	0	IL9R	154892799	0.001000	0.12720	0.003000	0.11579	0.022000	0.10575	0.277000	0.18734	1.015000	0.39444	0.287000	0.19450	CCT	-	IL9R	-	NULL		0.657	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	0	0	0	182	182	33	0.00	0.00	C	NM_002186		155239605	+1	33	4	175	33	tier1	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	15.87	10.81	SNP	0.003	A	33	175
RGMA	56963	genome.wustl.edu	37	15	93588731	93588731	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:93588731G>A	ENST00000329082.7	-	4	1121	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	RGMA_ENST00000542321.2_Missense_Mutation_p.R268C|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.R292C|RGMA_ENST00000425933.2_Missense_Mutation_p.R268C|RGMA_ENST00000538818.1_Missense_Mutation_p.R175C|RGMA_ENST00000543599.1_Missense_Mutation_p.R268C|RGMA_ENST00000556658.1_Missense_Mutation_p.R175C	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	284					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			CCCACCTGGCGCACCACGATG	0.622													ENSG00000182175																																					0													32.0	39.0	36.0					15																	93588731		2138	4234	6372	SO:0001583	missense	0			-	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.850C>T	15.37:g.93588731G>A	ENSP00000330005:p.Arg284Cys		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.R284C	ENST00000329082.7	37	c.850	CCDS45357.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950788	0.73787	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	4.87	2.76	0.32466	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95893	0.8663	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95906	0.8919	10	0.87932	D	0	-18.6692	12.0703	0.53611	0.0:0.0:0.5766:0.4234	.	292;284	G3V518;Q96B86	.;RGMA_HUMAN	C	268;268;284;268;175;292	ENSP00000442498:R268C;ENSP00000404442:R268C;ENSP00000330005:R284C;ENSP00000440025:R268C;ENSP00000442546:R175C;ENSP00000452126:R292C	ENSP00000330005:R284C	R	-	1	0	RGMA	91389735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.211000	0.58507	1.007000	0.39238	0.491000	0.48974	CGC	-	RGMA	-	pfam_RGM_C		0.622	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	0	0	0	39	39	21	0.00	0.00	G	NM_020211		93588731	-1	10	3	26	22	tier1	no_errors	ENST00000329082	ensembl	human	known	74_37	missense	27.03	12.00	SNP	1.000	A	10	26
KRT20	54474	genome.wustl.edu	37	17	39041314	39041314	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:39041314G>A	ENST00000167588.3	-	1	165	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	42	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CGGATGCCCCGGCCTCCAGCA	0.607													ENSG00000171431																																					0													62.0	59.0	60.0					17																	39041314		2203	4300	6503	SO:0001583	missense	0			-	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.124C>T	17.37:g.39041314G>A	ENSP00000167588:p.Arg42Trp		B2R6W7	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R42W	ENST00000167588.3	37	c.124	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	G	2.909	-0.225766	0.06022	.	.	ENSG00000171431	ENST00000167588	D	0.83506	-1.73	5.79	-0.787	0.10943	.	1.197440	0.05828	N	0.616999	T	0.63022	0.2476	N	0.05351	-0.065	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	10	0.36615	T	0.2	.	1.9583	0.03381	0.4677:0.1344:0.2605:0.1374	.	42	P35900	K1C20_HUMAN	W	42	ENSP00000167588:R42W	ENSP00000167588:R42W	R	-	1	2	KRT20	36294840	0.008000	0.16893	0.023000	0.16930	0.008000	0.06430	0.210000	0.17455	-0.099000	0.12263	-1.808000	0.00615	CGG	-	KRT20	-	NULL		0.607	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	0	0	0	41	41	40	0.00	0.00	G			39041314	-1	22	25	26	26	tier1	no_errors	ENST00000167588	ensembl	human	known	74_37	missense	45.83	49.02	SNP	0.000	A	22	26
TUBA3D	113457	genome.wustl.edu	37	2	132238232	132238232	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:132238232C>T	ENST00000321253.6	+	4	1073	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	322					'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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACAGGGGGGACGTGGTCCCCA	0.567													ENSG00000075886																									Ovarian(137;2059 2432 35543 39401)												0													129.0	129.0	129.0					2																	132238232		2203	4300	6503	SO:0001819	synonymous_variant	0			-	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.966C>T	2.37:g.132238232C>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	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.D322	ENST00000321253.6	37	c.966	CCDS33290.1	2																																																																																			-	TUBA3D	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin		0.567	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	0	0	0	54	54	16	0.00	0.00	C	NM_080386		132238232	+1	28	2	30	15	tier1	no_errors	ENST00000321253	ensembl	human	known	74_37	silent	48.28	11.76	SNP	1.000	T	28	30
APOBR	55911	genome.wustl.edu	37	16	28508991	28508991	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:28508991C>G	ENST00000431282.1	+	3	2612	c.2602C>G	c.(2602-2604)Ctt>Gtt	p.L868V	APOBR_ENST00000328423.5_Missense_Mutation_p.L868V|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.L877V|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	868	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCTGGGGGGCTTCTAGAAAA	0.627													ENSG00000184730																																					0													16.0	20.0	19.0					16																	28508991		1993	4162	6155	SO:0001583	missense	0			-	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2602C>G	16.37:g.28508991C>G	ENSP00000416094:p.Leu868Val		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.L877V	ENST00000431282.1	37	c.2629		16	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026620	0.35797	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.74632	-0.86;-0.86	4.11	3.15	0.36227	.	.	.	.	.	T	0.69251	0.3090	L	0.34521	1.04	0.09310	N	1	P;D	0.54964	0.94;0.969	P;P	0.51135	0.66;0.66	T	0.59947	-0.7358	9	0.87932	D	0	0.8449	6.8351	0.23931	0.0:0.8759:0.0:0.1241	.	868;868	Q0VD83;Q9NS13	APOBR_HUMAN;.	V	868	ENSP00000327669:L868V;ENSP00000416094:L868V	ENSP00000327669:L868V	L	+	1	0	APOBR	28416492	0.007000	0.16637	0.103000	0.21229	0.039000	0.13416	0.101000	0.15251	2.236000	0.73375	0.457000	0.33378	CTT	-	APOBR	-	NULL		0.627	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		0	0	0	82	82	35	0.00	0.00	C	NM_182804		28508991	+1	29	10	45	28	tier1	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	39.19	26.32	SNP	0.028	G	29	45
GNB2	2783	genome.wustl.edu	37	7	100276034	100276034	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:100276034G>A	ENST00000303210.4	+	9	1195	c.713G>A	c.(712-714)gGc>gAc	p.G238D	GNB2_ENST00000393926.1_Missense_Mutation_p.G238D|GNB2_ENST00000427895.1_Missense_Mutation_p.G138D|GNB2_ENST00000436220.1_Missense_Mutation_p.G194D|GNB2_ENST00000393924.1_Missense_Mutation_p.G238D|GNB2_ENST00000419828.1_Missense_Mutation_p.G138D|GNB2_ENST00000424361.1_Missense_Mutation_p.G194D	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	238					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TTCCCCAACGGCTACGCCTTC	0.657													ENSG00000172354																																					0													41.0	42.0	42.0					7																	100276034		2203	4300	6503	SO:0001583	missense	0			-	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.713G>A	7.37:g.100276034G>A	ENSP00000305260:p.Gly238Asp		B3KPU1|P11016|P54312	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G238D	ENST00000303210.4	37	c.713	CCDS5703.1	7	.	.	.	.	.	.	.	.	.	.	.	23.0	4.358771	0.82243	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;D;D;D;D;T;T	0.84730	4.5;4.5;-1.89;-1.89;-1.89;-1.89;4.5;4.5	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	M	0.65677	2.01	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.91862	0.5500	10	0.87932	D	0	-16.3584	15.8753	0.79156	0.0:0.0:1.0:0.0	.	238	P62879	GBB2_HUMAN	D	238;238;194;194;138;138;238;238	ENSP00000305260:G238D;ENSP00000399904:G238D;ENSP00000401873:G194D;ENSP00000389391:G194D;ENSP00000390543:G138D;ENSP00000400286:G138D;ENSP00000377503:G238D;ENSP00000377501:G238D	ENSP00000305260:G238D	G	+	2	0	GNB2	100113970	1.000000	0.71417	0.993000	0.49108	0.823000	0.46562	9.869000	0.99810	2.612000	0.88384	0.555000	0.69702	GGC	-	GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.657	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	0	0	0	32	32	19	0.00	0.00	G	NM_005273		100276034	+1	12	12	22	19	tier1	no_errors	ENST00000303210	ensembl	human	known	74_37	missense	35.29	38.71	SNP	1.000	A	12	22
PRDM7	11105	genome.wustl.edu	37	16	90128855	90128855	+	Silent	SNP	A	A	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:90128855A>T	ENST00000449207.2	-	6	583	c.564T>A	c.(562-564)ggT>ggA	p.G188G	PRDM7_ENST00000325921.6_5'Flank|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	188					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTATGCATGACCCTTTCTTT	0.478													ENSG00000126856																																					0													214.0	215.0	215.0					16																	90128855		1982	4180	6162	SO:0001819	synonymous_variant	0			-	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.564T>A	16.37:g.90128855A>T			A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G188	ENST00000449207.2	37	c.564	CCDS45557.1	16																																																																																			-	PRDM7	-	pfam_SSXRD_motif		0.478	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	HGNC	protein_coding	OTTHUMT00000420560.1	0	0	0	46	46	31	0.00	0.00	A			90128855	-1	9	7	67	29	tier1	no_errors	ENST00000449207	ensembl	human	known	74_37	silent	11.84	19.44	SNP	0.001	T	9	67
MYH9	4627	genome.wustl.edu	37	22	36689835	36689835	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:36689835G>A	ENST00000216181.5	-	29	4142	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1304					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTCCAGCGCGGAGAAGTCCT	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				ENSG00000100345																												Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													57.0	53.0	54.0					22																	36689835		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3912C>T	22.37:g.36689835G>A			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1304	ENST00000216181.5	37	c.3912	CCDS13927.1	22																																																																																			-	MYH9	-	pfam_Myosin_tail		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	0	0	0	58	58	28	0.00	0.00	G	NM_002473		36689835	-1	12	5	41	27	tier1	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	22.64	15.62	SNP	0.000	A	12	41
FGF3	2248	genome.wustl.edu	37	11	69625282	69625282	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:69625282G>A	ENST00000334134.2	-	3	601	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	171					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			TTCTGTGTGCGGCGGGTCTTG	0.682													ENSG00000186895																																					0													21.0	24.0	23.0					11																	69625282		2191	4268	6459	SO:0001583	missense	0			-		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.511C>T	11.37:g.69625282G>A	ENSP00000334122:p.Arg171Cys		Q0VG69	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R171C	ENST00000334134.2	37	c.511	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850208	0.71719	.	.	ENSG00000186895	ENST00000334134	T	0.68331	-0.32	3.92	2.91	0.33838	.	0.148172	0.64402	D	0.000019	T	0.79052	0.4381	M	0.82132	2.575	0.58432	D	0.99999	D	0.89917	1.0	D	0.75484	0.986	T	0.79708	-0.1690	9	.	.	.	.	9.3161	0.37934	0.0:0.0:0.5255:0.4745	.	171	P11487	FGF3_HUMAN	C	171	ENSP00000334122:R171C	.	R	-	1	0	FGF3	69334463	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.242000	0.51384	1.714000	0.51371	0.462000	0.41574	CGC	-	FGF3	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam		0.682	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	0	0	0	130	130	32	0.00	0.00	G	NM_005247		69625282	-1	48	10	73	18	tier1	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	39.67	35.71	SNP	1.000	A	48	73
DRC7	84229	genome.wustl.edu	37	16	57761251	57761251	+	Missense_Mutation	SNP	C	C	T	rs147667972	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:57761251C>T	ENST00000360716.3	+	16	2347	c.2126C>T	c.(2125-2127)gCg>gTg	p.A709V	CCDC135_ENST00000336825.8_Missense_Mutation_p.A644V|CCDC135_ENST00000394337.4_Missense_Mutation_p.A709V			Q8IY82	CC135_HUMAN		709					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GAGGAGGCGGCGCACACACTG	0.562													ENSG00000159625																																					0									VAL/ALA	3,4393	6.2+/-15.9	0,3,2195	141.0	133.0	136.0		2126	1.3	0.1	16	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC135	NM_032269.5	64	0,5,6493	TT,TC,CC		0.0233,0.0682,0.0385	benign	709/875	57761251	5,12991	2198	4300	6498	SO:0001583	missense	0			-																												ENST00000360716.3:c.2126C>T	16.37:g.57761251C>T	ENSP00000353942:p.Ala709Val		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.A709V	ENST00000360716.3	37	c.2126	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	c	4.045	0.005925	0.07866	6.82E-4	2.33E-4	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10860	2.99;2.83;2.99	4.47	1.32	0.21799	.	0.580561	0.17359	N	0.177115	T	0.07548	0.0190	L	0.45051	1.395	0.09310	N	1	B;B	0.22983	0.037;0.078	B;B	0.16722	0.009;0.016	T	0.34403	-0.9830	10	0.27785	T	0.31	-14.4906	3.2788	0.06908	0.3856:0.3853:0.1432:0.0859	.	644;709	Q8IY82-2;Q8IY82	.;CC135_HUMAN	V	709;644;709	ENSP00000377869:A709V;ENSP00000338938:A644V;ENSP00000353942:A709V	ENSP00000338938:A644V	A	+	2	0	CCDC135	56318752	0.001000	0.12720	0.135000	0.22099	0.021000	0.10359	0.033000	0.13754	0.096000	0.17463	-0.701000	0.03672	GCG	rs147667972	CCDC135	-	NULL		0.562	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	0	0	0	58	58	56	0.00	0.00	C			57761251	+1	23	25	29	45	tier1	no_errors	ENST00000360716	ensembl	human	known	74_37	missense	44.23	35.71	SNP	0.046	T	23	29
FAT1	2195	genome.wustl.edu	37	4	187540247	187540247	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:187540247T>A	ENST00000441802.2	-	10	7702	c.7493A>T	c.(7492-7494)gAa>gTa	p.E2498V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2498	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAGTTCCACTTCATATTCGTT	0.438										HNSCC(5;0.00058)			ENSG00000083857																									Colon(197;1040 2055 4143 4984 49344)												0													240.0	228.0	232.0					4																	187540247		1904	4119	6023	SO:0001583	missense	0			-	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7493A>T	4.37:g.187540247T>A	ENSP00000406229:p.Glu2498Val			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.E2498V	ENST00000441802.2	37	c.7493	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	T	5.119	0.207489	0.09704	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01647	4.71	5.09	5.09	0.68999	Cadherin (3);Cadherin-like (1);	0.104675	0.64402	D	0.000005	T	0.02610	0.0079	L	0.45470	1.425	0.58432	D	0.99999	B	0.19200	0.034	B	0.22152	0.038	T	0.55198	-0.8178	10	0.19147	T	0.46	.	15.3314	0.74215	0.0:0.0:0.0:1.0	.	2498	Q14517	FAT1_HUMAN	V	2498;2500	ENSP00000406229:E2498V	ENSP00000260147:E2500V	E	-	2	0	FAT1	187777241	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	6.267000	0.72546	2.267000	0.75376	0.528000	0.53228	GAA	-	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	0	0	0	26	26	62	0.00	0.00	T	NM_005245		187540247	-1	14	44	27	75	tier1	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	34.15	36.97	SNP	1.000	A	14	27
SLC13A3	64849	genome.wustl.edu	37	20	45212110	45212110	+	Intron	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:45212110C>T	ENST00000279027.4	-	9	1238				SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000472148.1_Intron|SLC13A3_ENST00000396360.1_Intron|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000290317.5_Intron|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000495082.1_Intron	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCAGGAAGGACCACGTGGTTA	0.602													ENSG00000158296																																					0																																										SO:0001627	intron_variant	0			-	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1219+100G>A	20.37:g.45212110C>T			B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	R	SNP	-	NULL	ENST00000279027.4	37	NULL	CCDS13400.1	20																																																																																			-	SLC13A3	-	-		0.602	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	0	0	0	15	15	35	0.00	0.00	C			45212110	-1	5	16	6	34	tier1	no_errors	ENST00000464518	ensembl	human	known	74_37	rna	45.45	32.00	SNP	0.000	T	5	6
C5	727	genome.wustl.edu	37	9	123794394	123794394	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:123794394A>G	ENST00000223642.1	-	6	693	c.664T>C	c.(664-666)Tat>Cat	p.Y222H		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	222					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AAATTACCATATTCTTTAACT	0.368													ENSG00000106804																																					0													80.0	84.0	83.0					9																	123794394		2202	4300	6502	SO:0001583	missense	0			-	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.664T>C	9.37:g.123794394A>G	ENSP00000223642:p.Tyr222His		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.Y222H	ENST00000223642.1	37	c.664	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770448	0.69992	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.58652	0.32	6.06	3.74	0.42951	.	0.058089	0.64402	N	0.000001	T	0.73466	0.3590	M	0.85197	2.74	0.46749	D	0.999187	D;D	0.53885	0.963;0.963	P;P	0.61722	0.887;0.893	T	0.74636	-0.3599	10	0.87932	D	0	.	9.5365	0.39226	0.8583:0.0:0.1417:0.0	.	293;222	Q59GS8;P01031	.;CO5_HUMAN	H	222;293	ENSP00000223642:Y222H	ENSP00000223642:Y222H	Y	-	1	0	C5	122834215	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.683000	0.68189	0.541000	0.28827	0.528000	0.53228	TAT	-	C5	-	NULL		0.368	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	0	0	0	32	32	62	0.00	0.00	A	NM_001735		123794394	-1	6	24	43	99	tier1	no_errors	ENST00000223642	ensembl	human	known	74_37	missense	12.24	19.51	SNP	1.000	G	6	43
CHN2	1124	genome.wustl.edu	37	7	29438038	29438038	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:29438038G>A	ENST00000222792.6	+	5	756	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	CHN2_ENST00000495789.2_Missense_Mutation_p.V89M|CHN2_ENST00000546235.1_Missense_Mutation_p.V61M|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Missense_Mutation_p.V76M|CHN2_ENST00000539406.1_Missense_Mutation_p.V151M	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	76	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCTTGGAGGCGTGGAGGGTGC	0.512													ENSG00000106069																									Ovarian(1;44 48 13232 18918 31480)												0													156.0	131.0	139.0					7																	29438038		2203	4300	6503	SO:0001583	missense	0			-	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.226G>A	7.37:g.29438038G>A	ENSP00000222792:p.Val76Met		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.V151M	ENST00000222792.6	37	c.451	CCDS5420.1	7	.	.	.	.	.	.	.	.	.	.	G	13.23	2.173675	0.38413	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.44	5.44	0.79542	SH2 motif (4);	0.582667	0.19305	N	0.117524	T	0.81403	0.4815	L	0.39898	1.24	0.80722	D	1	B;B;P;B;B	0.38167	0.009;0.018;0.621;0.133;0.133	B;B;B;B;B	0.22601	0.021;0.007;0.035;0.018;0.04	T	0.82297	-0.0527	10	0.51188	T	0.08	.	12.2513	0.54599	0.0791:0.0:0.9209:0.0	.	61;89;151;76;76	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	M	151;151;76;76;89;89;61	ENSP00000409843:V151M;ENSP00000444063:V151M;ENSP00000222792:V76M;ENSP00000400282:V76M;ENSP00000386968:V89M;ENSP00000438587:V89M;ENSP00000442812:V61M	ENSP00000222792:V76M	V	+	1	0	CHN2	29404563	1.000000	0.71417	0.937000	0.37676	0.556000	0.35491	3.621000	0.54210	2.553000	0.86117	0.467000	0.42956	GTG	-	CHN2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.512	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	0	0	0	16	16	37	0.00	0.00	G	NM_004067		29438038	+1	13	24	19	29	tier1	no_errors	ENST00000539406	ensembl	human	known	74_37	missense	40.62	45.28	SNP	0.855	A	13	19
SLC12A2	6558	genome.wustl.edu	37	5	127520487	127520487	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:127520487C>T	ENST00000262461.2	+	26	3631	c.3442C>T	c.(3442-3444)Cgg>Tgg	p.R1148W	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R1132W	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1148					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	TCAGACATACCGGCAGATCAG	0.303													ENSG00000064651																																					0													106.0	113.0	110.0					5																	127520487		2201	4293	6494	SO:0001583	missense	0			-		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3442C>T	5.37:g.127520487C>T	ENSP00000262461:p.Arg1148Trp		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R1148W	ENST00000262461.2	37	c.3442	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089454	0.76756	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.88896	-2.44;-2.44	5.31	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.95409	0.8496	10	0.87932	D	0	.	14.015	0.64519	0.2761:0.7239:0.0:0.0	.	1132;1148	P55011-3;P55011	.;S12A2_HUMAN	W	1148;1132	ENSP00000262461:R1148W;ENSP00000340878:R1132W	ENSP00000262461:R1148W	R	+	1	2	SLC12A2	127548386	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	4.645000	0.61404	0.761000	0.33130	-0.319000	0.08680	CGG	-	SLC12A2	-	tigrfam_Na/K/Cl_cotransptS		0.303	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	0	0	0	68	68	29	0.00	0.00	C	NM_001046		127520487	+1	25	22	73	61	tier1	no_errors	ENST00000262461	ensembl	human	known	74_37	missense	25.51	26.51	SNP	1.000	T	25	73
SPHK2	56848	genome.wustl.edu	37	19	49132438	49132438	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:49132438G>A	ENST00000245222.4	+	7	1739	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	SPHK2_ENST00000443164.1_Missense_Mutation_p.G520D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G399D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G422D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G458D|SPHK2_ENST00000340932.3_Missense_Mutation_p.G420D|SPHK2_ENST00000599029.1_Missense_Mutation_p.G422D	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	458					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGACTGGGGTGGGGCTGGG	0.701													ENSG00000063176																																					0													37.0	47.0	43.0					19																	49132438		2200	4298	6498	SO:0001583	missense	0			-	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1373G>A	19.37:g.49132438G>A	ENSP00000245222:p.Gly458Asp		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G520D	ENST00000245222.4	37	c.1559	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	g	9.234	1.036531	0.19669	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.29142	2.13;1.75;1.58	4.55	2.33	0.28932	.	0.543906	0.17541	N	0.170524	T	0.12390	0.0301	N	0.08118	0	0.24440	N	0.994537	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.11329	0.001;0.006;0.002	T	0.30297	-0.9983	10	0.13470	T	0.59	-31.7295	5.5033	0.16840	0.186:0.1662:0.6478:0.0	.	399;520;458	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	D	458;431;420;520	ENSP00000245222:G458D;ENSP00000341091:G420D;ENSP00000413369:G520D	ENSP00000245222:G458D	G	+	2	0	SPHK2	53824250	.	.	0.859000	0.33776	0.997000	0.91878	.	.	0.596000	0.29794	0.651000	0.88453	GGT	-	SPHK2	-	NULL		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	0	0	0	78	78	25	0.00	0.00	G			49132438	+1	7	4	71	26	tier1	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	8.97	13.33	SNP	0.863	A	7	71
SHANK2	22941	genome.wustl.edu	37	11	70332268	70332268	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:70332268G>A	ENST00000423696.2	-	15	3029	c.2993C>T	c.(2992-2994)gCg>gTg	p.A998V	SHANK2_ENST00000338508.4_Missense_Mutation_p.A1378V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A781V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A782V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	998					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGAGCCCACCGCGACGATGGT	0.592													ENSG00000162105																																					0													50.0	55.0	53.0					11																	70332268		2200	4294	6494	SO:0001583	missense	0			-	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2993C>T	11.37:g.70332268G>A	ENSP00000394536:p.Ala998Val		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A1378V	ENST00000423696.2	37	c.4133		11	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474699	0.26511	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42131	2.27;2.27;2.99;0.98;2.4;2.4	5.2	5.2	0.72013	.	0.364207	0.30752	N	0.008944	T	0.42607	0.1210	L	0.60455	1.87	0.80722	D	1	B;B;B	0.27791	0.012;0.189;0.005	B;B;B	0.17433	0.003;0.018;0.007	T	0.36138	-0.9760	10	0.49607	T	0.09	.	18.7722	0.91896	0.0:0.0:1.0:0.0	.	998;1377;782	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	782;781;656;1378;998;1016;1001	ENSP00000399423:A782V;ENSP00000386491:A781V;ENSP00000402944:A656V;ENSP00000345193:A1378V;ENSP00000394536:A998V;ENSP00000294018:A1001V	ENSP00000294018:A1001V	A	-	2	0	SHANK2	70009916	0.960000	0.32886	0.975000	0.42487	0.421000	0.31385	4.044000	0.57361	2.423000	0.82170	0.561000	0.74099	GCG	-	SHANK2	-	NULL		0.592	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		0	0	0	45	45	34	0.00	0.00	G	NM_012309		70332268	-1	18	12	18	14	tier1	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	50.00	46.15	SNP	0.492	A	18	18
SNX8	29886	genome.wustl.edu	37	7	2296591	2296591	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:2296591G>A	ENST00000222990.3	-	10	1244	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	401					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GATGAGCTGCGTCTCCTGGTG	0.622													ENSG00000106266																																					0													186.0	122.0	144.0					7																	2296591		2203	4300	6503	SO:0001583	missense	0			-	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1202C>T	7.37:g.2296591G>A	ENSP00000222990:p.Thr401Met		A4D207|Q96I67	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.T401M	ENST00000222990.3	37	c.1202	CCDS5331.1	7	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226740	0.58668	.	.	ENSG00000106266	ENST00000222990	.	.	.	5.3	4.42	0.53409	.	0.055880	0.64402	N	0.000001	T	0.46658	0.1404	L	0.46157	1.445	0.45015	D	0.998035	P	0.34462	0.454	B	0.23419	0.046	T	0.41342	-0.9514	9	0.31617	T	0.26	.	13.8372	0.63417	0.0739:0.0:0.9261:0.0	.	401	Q9Y5X2	SNX8_HUMAN	M	401	.	ENSP00000222990:T401M	T	-	2	0	SNX8	2263117	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.950000	0.63603	1.250000	0.43966	0.561000	0.74099	ACG	-	SNX8	-	NULL		0.622	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX8	HGNC	protein_coding	OTTHUMT00000322949.2	0	0	0	62	62	54	0.00	0.00	G			2296591	-1	31	28	51	29	tier1	no_errors	ENST00000222990	ensembl	human	known	74_37	missense	37.80	49.12	SNP	0.995	A	31	51
OLFML3	56944	genome.wustl.edu	37	1	114523089	114523089	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:114523089T>G	ENST00000320334.4	+	2	324	c.250T>G	c.(250-252)Tcc>Gcc	p.S84A	OLFML3_ENST00000393300.2_Missense_Mutation_p.S64A|OLFML3_ENST00000369551.1_Missense_Mutation_p.S64A|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	84					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CGACACCATCTCCGGGAGAGT	0.592													ENSG00000116774																																					0													78.0	80.0	79.0					1																	114523089		2203	4300	6503	SO:0001583	missense	0			-	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.250T>G	1.37:g.114523089T>G	ENSP00000322273:p.Ser84Ala		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.S84A	ENST00000320334.4	37	c.250	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	T	3.181	-0.167873	0.06461	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.87571	-2.27;-2.27;-2.27	5.36	0.0396	0.14205	.	0.397055	0.28442	N	0.015327	T	0.40171	0.1106	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52049	-0.8627	10	0.02654	T	1	.	11.6121	0.51066	0.0988:0.0:0.6918:0.2094	.	64;84	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	A	64;84;64	ENSP00000358564:S64A;ENSP00000322273:S84A;ENSP00000376977:S64A	ENSP00000322273:S84A	S	+	1	0	OLFML3	114324612	0.000000	0.05858	0.838000	0.33150	0.803000	0.45373	0.593000	0.23999	0.006000	0.14734	-0.466000	0.05196	TCC	-	OLFML3	-	NULL		0.592	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	0	0	0	41	41	50	0.00	0.00	T	NM_020190		114523089	+1	14	20	21	33	tier1	no_errors	ENST00000320334	ensembl	human	known	74_37	missense	40.00	37.74	SNP	0.166	G	14	21
TP53	7157	genome.wustl.edu	37	17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:7579414C>T	ENST00000269305.4	-	4	462	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGACAGGGGCCAGGAGGGGG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Substitution - Nonsense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(10)|upper_aerodigestive_tract(6)|breast(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|prostate(1)|liver(1)	GRCh37	CM065495	TP53	M							44.0	50.0	48.0					17																	7579414		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.273G>A	17.37:g.7579414C>T	ENSP00000269305:p.Trp91*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W91*	ENST00000269305.4	37	c.273	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552604	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	8.8476	0.35179	0.0:0.8991:0.0:0.1009	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	3	0	TP53	7520139	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.567000	0.36407	2.561000	0.86390	0.561000	0.74099	TGG	-	TP53	-	NULL		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	53	53	60	0.00	0.00	C	NM_000546		7579414	-1	13	21	41	44	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	24.07	32.31	SNP	1.000	T	13	41
ATXN7L1	222255	genome.wustl.edu	37	7	105254570	105254570	+	Silent	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:105254570T>C	ENST00000419735.3	-	10	2256	c.2211A>G	c.(2209-2211)ggA>ggG	p.G737G	ATXN7L1_ENST00000477775.1_Silent_p.G613G|ATXN7L1_ENST00000388807.4_Silent_p.G397G	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	737	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CACTGCTGCCTCCCACCGCGC	0.657													ENSG00000146776																																					0													39.0	42.0	41.0					7																	105254570		692	1591	2283	SO:0001819	synonymous_variant	0			-	AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2211A>G	7.37:g.105254570T>C			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	pfam_SCA7_dom	p.G737	ENST00000419735.3	37	c.2211	CCDS47682.1	7																																																																																			-	ATXN7L1	-	NULL		0.657	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	0	0	0	20	20	22	0.00	0.00	T			105254570	-1	5	5	15	10	tier1	no_errors	ENST00000419735	ensembl	human	known	74_37	silent	25.00	33.33	SNP	0.994	C	5	15
TCOF1	6949	genome.wustl.edu	37	5	149769450	149769450	+	Splice_Site	SNP	G	G	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:149769450G>C	ENST00000504761.2	+	19	3047	c.3047G>C	c.(3046-3048)gGc>gCc	p.G1016A	TCOF1_ENST00000377797.3_Splice_Site_p.G1016A|TCOF1_ENST00000451292.1_Splice_Site_p.G1053A|TCOF1_ENST00000513346.1_Splice_Site_p.G1053A|TCOF1_ENST00000323668.7_Splice_Site_p.G939A|TCOF1_ENST00000439160.2_Splice_Site_p.G1016A|TCOF1_ENST00000445265.2_Splice_Site_p.G939A			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1016					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATTTCAGGCATCAGAACC	0.582													ENSG00000070814																																					0													66.0	64.0	65.0					5																	149769450		2203	4300	6503	SO:0001630	splice_region_variant	0			-		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3047-1G>C	5.37:g.149769450G>C			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.G1053A	ENST00000504761.2	37	c.3158	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.496821	0.01001	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.33;-0.33;-0.33;-0.26;-0.27;-0.32;-0.21	4.9	0.187	0.15109	.	0.670270	0.13156	N	0.409483	T	0.22627	0.0546	N	0.00321	-1.65	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.30001	-0.9993	9	.	.	.	.	2.8931	0.05682	0.1592:0.4061:0.3252:0.1095	.	1016;939;1016;1016;939	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	A	1053;1016;939;939;1016;1016;1016;1053	ENSP00000400939:G1053A;ENSP00000367028:G1016A;ENSP00000409944:G939A;ENSP00000325223:G939A;ENSP00000406888:G1016A;ENSP00000390717:G1016A;ENSP00000421655:G1016A;ENSP00000427484:G1053A	.	G	+	2	0	TCOF1	149749643	0.087000	0.21565	0.068000	0.19968	0.006000	0.05464	0.068000	0.14531	0.028000	0.15324	-0.798000	0.03219	GGC	-	TCOF1	-	NULL		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	0	0	0	32	32	42	0.00	0.00	G	NM_001008656	Missense_Mutation	149769450	+1	14	20	52	73	tier1	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	21.21	21.51	SNP	0.093	C	14	52
SCN11A	11280	genome.wustl.edu	37	3	38938441	38938441	+	Silent	SNP	G	G	A	rs202104116		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:38938441G>A	ENST00000302328.3	-	14	2496	c.2298C>T	c.(2296-2298)tgC>tgT	p.C766C	SCN11A_ENST00000450244.1_Silent_p.C766C|SCN11A_ENST00000456224.3_Silent_p.C766C|SCN11A_ENST00000444237.2_Silent_p.C766C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	766					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCATTCCCCGCAGAGGATGC	0.468													ENSG00000168356																																					0								G		0,4406		0,0,2203	121.0	110.0	114.0		2298	-3.5	1.0	3		114	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SCN11A	NM_014139.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		766/1792	38938441	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2298C>T	3.37:g.38938441G>A			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.C766	ENST00000302328.3	37	c.2298	CCDS33737.1	3																																																																																			rs202104116	SCN11A	-	pfam_Ion_trans_dom		0.468	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	0	0	1	26	26	50	0.00	1.96	G	NM_014139		38938441	-1	21	29	27	45	tier1	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	43.75	39.19	SNP	0.942	A	21	27
AARS2	57505	genome.wustl.edu	37	6	44271108	44271108	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:44271108G>A	ENST00000244571.4	-	15	2062	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCCCCACGGCCTCCTGCAC	0.637													ENSG00000124608																																					0													47.0	43.0	44.0					6																	44271108		2203	4300	6503	SO:0001583	missense	0			-	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2060C>T	6.37:g.44271108G>A	ENSP00000244571:p.Ala687Val			Missense_Mutation	SNP	pfam_Ala-tR-synth_IIc_N,pfam_tR_SAD,superfamily_Ala-tR-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tR-synth_IIc_edit,smart_tR_SAD,prints_Ala-tR-lgiase_IIc,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc	p.A687V	ENST00000244571.4	37	c.2060	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	G	5.518	0.280511	0.10458	.	.	ENSG00000124608	ENST00000244571	T	0.62788	0.0	6.17	3.42	0.39159	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.228496	0.44902	N	0.000415	T	0.19406	0.0466	N	0.20304	0.555	0.20703	N	0.999864	B	0.02656	0.0	B	0.04013	0.001	T	0.16748	-1.0392	10	0.16896	T	0.51	-8.1589	6.8564	0.24042	0.3788:0.0:0.6212:0.0	.	687	Q5JTZ9	SYAM_HUMAN	V	687	ENSP00000244571:A687V	ENSP00000244571:A687V	A	-	2	0	AARS2	44379086	0.142000	0.22610	0.773000	0.31616	0.137000	0.21094	2.618000	0.46393	0.921000	0.36994	-0.140000	0.14226	GCC	-	AARS2	-	superfamily_Thr/Ala-tR-synth_IIc_edit,pfscan_Ala-tR-synth_IIc_core,tigrfam_Ala-tR-lgiase_IIc		0.637	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	0	0	0	30	30	11	0.00	0.00	G	NM_020745		44271108	-1	4	4	24	11	tier1	no_errors	ENST00000244571	ensembl	human	known	74_37	missense	14.29	26.67	SNP	0.495	A	4	24
BMPER	168667	genome.wustl.edu	37	7	34094854	34094854	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:34094854G>A	ENST00000297161.2	+	10	1240	c.866G>A	c.(865-867)tGc>tAc	p.C289Y	BMPER_ENST00000426693.1_Missense_Mutation_p.C289Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	289	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTGAAGAGTGCCTCCTACGA	0.512													ENSG00000164619																																					0													120.0	114.0	116.0					7																	34094854		2203	4300	6503	SO:0001583	missense	0			-		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.866G>A	7.37:g.34094854G>A	ENSP00000297161:p.Cys289Tyr		A8K1P8|Q8TF36	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.C289Y	ENST00000297161.2	37	c.866	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511997	0.85389	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.72942	-0.7;-0.7	6.06	6.06	0.98353	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	D	0.87565	0.6209	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88425	0.3031	10	0.87932	D	0	.	20.6186	0.99473	0.0:0.0:1.0:0.0	.	289	Q8N8U9	BMPER_HUMAN	Y	289	ENSP00000297161:C289Y;ENSP00000393950:C289Y	ENSP00000297161:C289Y	C	+	2	0	BMPER	34061379	1.000000	0.71417	0.994000	0.49952	0.678000	0.39670	8.435000	0.90297	2.876000	0.98609	0.643000	0.83706	TGC	-	BMPER	-	smart_VWF_C		0.512	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	0	0	0	57	57	64	0.00	0.00	G	NM_133468		34094854	+1	22	28	38	47	tier1	no_errors	ENST00000297161	ensembl	human	known	74_37	missense	36.67	37.33	SNP	1.000	A	22	38
KRT85	3891	genome.wustl.edu	37	12	52757866	52757866	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:52757866G>A	ENST00000257901.3	-	4	847	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	KRT85_ENST00000544265.1_Missense_Mutation_p.R46C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	258	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCATAGAGGCGCCTCAGGAAG	0.612													ENSG00000135443																																					0													99.0	101.0	100.0					12																	52757866		2203	4300	6503	SO:0001583	missense	0			-	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.772C>T	12.37:g.52757866G>A	ENSP00000257901:p.Arg258Cys		Q9NSB1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R258C	ENST00000257901.3	37	c.772	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096755	0.56075	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	T;T	0.77620	-0.99;-1.11	4.89	1.93	0.25924	Filament (1);	0.637772	0.14049	N	0.344903	T	0.64238	0.2580	L	0.49571	1.57	0.09310	N	0.999996	B	0.14438	0.01	B	0.15484	0.013	T	0.42310	-0.9459	10	0.15066	T	0.55	.	2.9225	0.05773	0.0877:0.3084:0.356:0.2479	.	258	P78386	KRT85_HUMAN	C	258;46	ENSP00000257901:R258C;ENSP00000440240:R46C	ENSP00000257901:R258C	R	-	1	0	KRT85	51044133	0.000000	0.05858	0.999000	0.59377	0.973000	0.67179	-1.244000	0.02902	1.274000	0.44362	0.555000	0.69702	CGC	-	KRT85	-	pfam_IF		0.612	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	0	0	0	21	21	59	0.00	0.00	G	NM_002283		52757866	-1	7	18	11	38	tier1	no_errors	ENST00000257901	ensembl	human	known	74_37	missense	38.89	32.14	SNP	0.125	A	7	11
TENM2	57451	genome.wustl.edu	37	5	167517646	167517646	+	Missense_Mutation	SNP	G	G	A	rs367902324		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:167517646G>A	ENST00000518659.1	+	8	1622	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	TENM2_ENST00000520394.1_Missense_Mutation_p.R296Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R528Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R361Q|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.R407Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	528		Cleavage. {ECO:0000250}.			axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGGGAACGCCGGAGCATACAG	0.512													ENSG00000145934																																					0								G	GLN/ARG	0,4142		0,0,2071	214.0	216.0	215.0		1583	6.0	1.0	5		215	1,8421		0,1,4210	no	missense	ODZ2	NM_001122679.1	43	0,1,6281	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	528/2766	167517646	1,12563	2071	4211	6282	SO:0001583	missense	0			-	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1583G>A	5.37:g.167517646G>A	ENSP00000429430:p.Arg528Gln		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R528Q	ENST00000518659.1	37	c.1583		5	.	.	.	.	.	.	.	.	.	.	G	36	5.844075	0.97016	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.96	5.96	0.96718	.	0.060449	0.64402	D	0.000006	T	0.52677	0.1749	M	0.81112	2.525	0.51767	D	0.999931	D;D;D	0.71674	0.998;0.991;0.994	P;P;P	0.59012	0.85;0.552;0.842	T	0.53507	-0.8429	10	0.62326	D	0.03	.	20.4116	0.99017	0.0:0.0:1.0:0.0	.	528;296;407	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Q	528;528;407;296;361	ENSP00000429430:R528Q;ENSP00000438635:R528Q;ENSP00000428964:R407Q;ENSP00000427874:R296Q;ENSP00000384905:R361Q	ENSP00000384905:R361Q	R	+	2	0	ODZ2	167450224	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.476000	0.97823	2.827000	0.97445	0.655000	0.94253	CGG	-	TENM2	-	NULL		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	0	0	0	62	62	48	0.00	0.00	G	NM_001122679		167517646	+1	20	14	66	113	tier1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	23.26	10.94	SNP	1.000	A	20	66
NAT10	55226	genome.wustl.edu	37	11	34156835	34156835	+	Silent	SNP	C	C	T	rs372918376		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:34156835C>T	ENST00000257829.3	+	19	2231	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.S603S	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	675	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCGTAAGCAGCGAGGTAAGCA	0.502													ENSG00000135372																																					0								C	,	0,4404		0,0,2202	127.0	108.0	114.0		1809,2025	-6.5	0.6	11		114	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	NAT10	NM_001144030.1,NM_024662.2	,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,	603/954,675/1026	34156835	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	0			-	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2025C>T	11.37:g.34156835C>T			B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GT_dom	p.S675	ENST00000257829.3	37	c.2025	CCDS7889.1	11																																																																																			-	T10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GT_dom		0.502	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T10	HGNC	protein_coding	OTTHUMT00000388693.1	0	0	0	32	32	88	0.00	0.00	C	NM_024662		34156835	+1	10	40	30	82	tier1	no_errors	ENST00000257829	ensembl	human	known	74_37	silent	25.00	32.79	SNP	0.864	T	10	30
ZNF567	163081	genome.wustl.edu	37	19	37211253	37211253	+	Missense_Mutation	SNP	C	C	T	rs201636823		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:37211253C>T	ENST00000536254.2	+	6	1849	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	ZNF567_ENST00000392163.2_Missense_Mutation_p.R512C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R512C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R512C|ZNF567_ENST00000585696.1_Missense_Mutation_p.R512C|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAAGTCCTTTCGCCAGAAAGC	0.408													ENSG00000189042																																					0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	60.0	62.0	61.0		1534	1.5	1.0	19		61	0,8600		0,0,4300	yes	missense	ZNF567	NM_152603.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	512/617	37211253	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1627C>T	19.37:g.37211253C>T	ENSP00000441838:p.Arg543Cys		B3KX49|Q6N044	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.R543C	ENST00000536254.2	37	c.1627		19	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572021	0.28092	2.27E-4	0.0	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.84	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.329918	0.22348	N	0.061242	T	0.47266	0.1436	L	0.54965	1.715	0.30139	N	0.804097	D;D	0.89917	0.992;1.0	P;D	0.81914	0.744;0.995	T	0.39333	-0.9619	10	0.36615	T	0.2	.	7.1704	0.25715	0.3044:0.6108:0.0:0.0848	.	543;512	Q8N184;F8WEL6	ZN567_HUMAN;.	C	543;487;512;542;512	ENSP00000441838:R543C;ENSP00000353957:R512C;ENSP00000376003:R512C	ENSP00000353957:R512C	R	+	1	0	ZNF567	41903093	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.992000	0.03724	0.715000	0.32103	0.561000	0.74099	CGC	rs201636823	ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	0	0	0	30	30	39	0.00	0.00	C	NM_152603		37211253	+1	21	22	22	48	tier1	no_errors	ENST00000536254	ensembl	human	known	74_37	missense	48.84	31.43	SNP	0.055	T	21	22
SULF1	23213	genome.wustl.edu	37	8	70539472	70539472	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:70539472C>G	ENST00000260128.4	+	16	2595	c.1878C>G	c.(1876-1878)atC>atG	p.I626M	SULF1_ENST00000402687.4_Missense_Mutation_p.I626M|SULF1_ENST00000419716.3_Missense_Mutation_p.I626M|SULF1_ENST00000458141.2_Missense_Mutation_p.I626M|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	626					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATGACTCTATCCATTGTGAGA	0.388													ENSG00000137573																																					0													163.0	147.0	152.0					8																	70539472		2203	4300	6503	SO:0001583	missense	0			-	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1878C>G	8.37:g.70539472C>G	ENSP00000260128:p.Ile626Met		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.I626M	ENST00000260128.4	37	c.1878	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172591	0.57584	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	6.04	6.04	0.98038	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.051713	0.85682	D	0.000000	D	0.98673	0.9555	M	0.63428	1.95	0.36940	D	0.892342	D	0.69078	0.997	D	0.65233	0.933	D	0.99187	1.0869	10	0.87932	D	0	.	6.4759	0.22034	0.1778:0.7161:0.0:0.1061	.	626	Q8IWU6	SULF1_HUMAN	M	626	ENSP00000403040:I626M;ENSP00000260128:I626M;ENSP00000385704:I626M;ENSP00000390315:I626M	ENSP00000260128:I626M	I	+	3	3	SULF1	70702026	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	0.588000	0.23924	2.873000	0.98535	0.563000	0.77884	ATC	-	SULF1	-	pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	0	0	0	90	90	81	0.00	0.00	C	NM_015170		70539472	+1	14	11	63	76	tier1	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	18.18	12.50	SNP	1.000	G	14	63
OR4S1	256148	genome.wustl.edu	37	11	48328423	48328423	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:48328423G>A	ENST00000319988.1	+	1	649	c.649G>A	c.(649-651)Gtt>Att	p.V217I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CATTTCCTATGTTATCATCTT	0.458													ENSG00000176555																																					0													179.0	155.0	163.0					11																	48328423		2201	4298	6499	SO:0001583	missense	0			-	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.649G>A	11.37:g.48328423G>A	ENSP00000321447:p.Val217Ile		Q6IFB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V217I	ENST00000319988.1	37	c.649	CCDS31488.1	11	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432550	0.04669	.	.	ENSG00000176555	ENST00000319988	T	0.00224	8.51	5.02	-5.36	0.02689	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.01134	-0.995	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16837	-1.0389	9	0.10111	T	0.7	.	13.6716	0.62430	0.6892:0.0:0.3108:0.0	.	217	Q8NGB4	OR4S1_HUMAN	I	217	ENSP00000321447:V217I	ENSP00000321447:V217I	V	+	1	0	OR4S1	48284999	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-4.155000	0.00284	-0.996000	0.03455	-0.140000	0.14226	GTT	-	OR4S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	0	0	0	38	38	66	0.00	0.00	G	NM_001004725		48328423	+1	22	22	28	40	tier1	no_errors	ENST00000319988	ensembl	human	known	74_37	missense	44.00	35.48	SNP	0.000	A	22	28
TMEM260	54916	genome.wustl.edu	37	14	57046751	57046751	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:57046751T>A	ENST00000261556.6	+	1	241	c.119T>A	c.(118-120)tTc>tAc	p.F40Y	TMEM260_ENST00000538838.1_Missense_Mutation_p.F40Y|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	40						integral component of membrane (GO:0016021)											GCCGCAGTGTTCACCTTCACC	0.731													ENSG00000070269																																					0													6.0	5.0	5.0					14																	57046751		2071	4086	6157	SO:0001583	missense	0			-	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.119T>A	14.37:g.57046751T>A	ENSP00000261556:p.Phe40Tyr		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.F40Y	ENST00000261556.6	37	c.119	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	T	9.642	1.139239	0.21205	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.13089	3.16;2.62	5.14	5.14	0.70334	.	0.142503	0.48286	D	0.000192	T	0.05502	0.0145	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19976	-1.0289	10	0.02654	T	1	-10.77	8.2762	0.31874	0.2785:0.0:0.0:0.7215	.	40	Q9NX78	CN101_HUMAN	Y	40	ENSP00000261556:F40Y;ENSP00000441934:F40Y	ENSP00000261556:F40Y	F	+	2	0	C14orf101	56116504	1.000000	0.71417	0.938000	0.37757	0.260000	0.26232	2.294000	0.43567	1.921000	0.55644	0.460000	0.39030	TTC	-	TMEM260	-	NULL		0.731	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM260	HGNC	protein_coding	OTTHUMT00000276924.1	0	0	0	111	111	21	0.00	0.00	T	NM_017799		57046751	+1	15	6	42	17	tier1	no_errors	ENST00000261556	ensembl	human	known	74_37	missense	26.32	25.00	SNP	0.919	A	15	42
COL14A1	7373	genome.wustl.edu	37	8	121301939	121301939	+	Silent	SNP	G	G	A	rs143025238	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:121301939G>A	ENST00000297848.3	+	34	4440	c.4170G>A	c.(4168-4170)acG>acA	p.T1390T	COL14A1_ENST00000309791.4_Silent_p.T1390T|COL14A1_ENST00000247781.3_Silent_p.T1295T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTAATATCACGTCAGATGGTG	0.448													ENSG00000187955																																					0								G		3,4403	6.2+/-15.9	0,3,2200	176.0	154.0	161.0		4170	-11.7	0.0	8	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	COL14A1	NM_021110.1		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		1390/1797	121301939	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4170G>A	8.37:g.121301939G>A				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1390	ENST00000297848.3	37	c.4170	CCDS34938.1	8																																																																																			rs143025238	COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.448	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	0	0	1	56	56	90	0.00	1.10	G	NM_021110		121301939	+1	22	24	78	108	tier1	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	22.00	18.18	SNP	0.000	A	22	78
SMAD5	4090	genome.wustl.edu	37	5	135469548	135469548	+	Intron	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:135469548C>T	ENST00000514641.2	+	1	118				SMAD5_ENST00000545620.1_Intron|SMAD5_ENST00000545279.1_Intron|SMAD5-AS1_ENST00000297163.3_RNA			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAACTCGGGCGAGGATACTT	0.517													ENSG00000164621																																					0																																										SO:0001627	intron_variant	0			-	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.118+897C>T	5.37:g.135469548C>T			O14688|Q15798|Q9UQA1	R	SNP	-	NULL	ENST00000514641.2	37	NULL		5																																																																																			-	SMAD5-AS1	-	-		0.517	SMAD5-001	KNOWN	basic	processed_transcript	SMAD5-AS1	HGNC	protein_coding	OTTHUMT00000372096.2	0	0	0	112	112	121	0.00	0.00	C	NM_005903		135469548	-1	43	31	102	74	tier1	no_errors	ENST00000297163	ensembl	human	known	74_37	rna	29.66	29.52	SNP	0.016	T	43	102
NT5C1B	93034	genome.wustl.edu	37	2	18767589	18767589	+	Silent	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:18767589T>C	ENST00000359846.2	-	4	446	c.369A>G	c.(367-369)agA>agG	p.R123R	NT5C1B_ENST00000304081.4_Silent_p.R63R|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_Silent_p.R123R|NT5C1B_ENST00000600945.1_Silent_p.R123R|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	123	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCCGGGATATTCTAGACCATT	0.488													ENSG00000185013																																					0													160.0	143.0	149.0					2																	18767589		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.369A>G	2.37:g.18767589T>C			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	pfam_5-nucleotidase	p.R123	ENST00000359846.2	37	c.369	CCDS33150.1	2																																																																																			-	NT5C1B	-	NULL		0.488	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	0	0	0	54	54	64	0.00	0.00	T			18767589	-1	19	9	65	59	tier1	no_errors	ENST00000359846	ensembl	human	known	74_37	silent	22.62	13.04	SNP	0.119	C	19	65
SYK	6850	genome.wustl.edu	37	9	93650108	93650108	+	Silent	SNP	C	C	T	rs141667926		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:93650108C>T	ENST00000375754.4	+	12	1807	c.1659C>T	c.(1657-1659)agC>agT	p.S553S	SYK_ENST00000375746.1_Silent_p.S553S|SYK_ENST00000375751.4_Silent_p.S530S|SYK_ENST00000375747.1_Silent_p.S530S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	553	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCAGCAAAAGCGATGTCTGGA	0.512			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								ENSG00000165025																												Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								C	,,,	0,4406		0,0,2203	175.0	170.0	172.0		1590,1659,1590,1659	-5.2	0.3	9	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	530/613,553/636,530/613,553/636	93650108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1659C>T	9.37:g.93650108C>T				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S553	ENST00000375754.4	37	c.1659	CCDS6688.1	9																																																																																			rs141667926	SYK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.512	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	0	0	0	47	47	34	0.00	0.00	C			93650108	+1	26	11	32	28	tier1	no_errors	ENST00000375746	ensembl	human	known	74_37	silent	44.83	28.21	SNP	0.974	T	26	32
SCAF4	57466	genome.wustl.edu	37	21	33073423	33073423	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr21:33073423T>C	ENST00000286835.7	-	7	1044	c.662A>G	c.(661-663)aAt>aGt	p.N221S	SCAF4_ENST00000399804.1_Missense_Mutation_p.N221S|SCAF4_ENST00000434667.3_Missense_Mutation_p.N206S	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	221						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATCACAGCATTGTCAAGGGC	0.443													ENSG00000156304																																					0													131.0	127.0	129.0					21																	33073423		2203	4300	6503	SO:0001583	missense	0			-	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.662A>G	21.37:g.33073423T>C	ENSP00000286835:p.Asn221Ser		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.N221S	ENST00000286835.7	37	c.662	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223473	0.39300	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.44881	0.95;0.91;0.92	6.07	3.77	0.43336	.	0.332568	0.34133	N	0.004227	T	0.18087	0.0434	N	0.04880	-0.145	0.32211	N	0.57653	B;B;B;B	0.16166	0.001;0.016;0.003;0.001	B;B;B;B	0.13407	0.004;0.007;0.009;0.002	T	0.21895	-1.0232	10	0.07175	T	0.84	-14.3228	9.4467	0.38701	0.0:0.1434:0.0:0.8566	.	206;221;221;221	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	S	206;221;221	ENSP00000402377:N206S;ENSP00000286835:N221S;ENSP00000382703:N221S	ENSP00000286835:N221S	N	-	2	0	SCAF4	31995294	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.810000	0.47979	1.131000	0.42111	0.533000	0.62120	AAT	-	SCAF4	-	NULL		0.443	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	0	0	0	94	94	57	0.00	0.00	T	XM_047889		33073423	-1	31	26	73	54	tier1	no_errors	ENST00000286835	ensembl	human	known	74_37	missense	29.81	32.50	SNP	1.000	C	31	73
QPRT	23475	genome.wustl.edu	37	16	29690479	29690479	+	5'UTR	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:29690479T>C	ENST00000395384.4	+	0	122				QPRT_ENST00000562473.1_5'Flank|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase						NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GCCTTGGTCCTGAGCAGCCAA	0.652													ENSG00000103485																																					0													100.0	80.0	87.0					16																	29690479		2197	4300	6497	SO:0001623	5_prime_UTR_variant	0			-	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.-40T>C	16.37:g.29690479T>C			Q53XW7|Q96G22|Q9BSG6	R	SNP	-	NULL	ENST00000395384.4	37	NULL	CCDS10651.1	16	.	.	.	.	.	.	.	.	.	.	.	5.128	0.209152	0.09757	.	.	ENSG00000103485	ENST00000219771	.	.	.	2.63	-0.958	0.10347	.	.	.	.	.	T	0.34424	0.0897	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.38542	-0.9656	5	0.87932	D	0	.	2.9189	0.05762	0.0:0.2874:0.2427:0.4699	.	.	.	.	P	21	.	ENSP00000219771:L21P	L	+	2	0	QPRT	29597980	0.362000	0.24980	0.003000	0.11579	0.067000	0.16453	0.306000	0.19279	-0.232000	0.09811	0.402000	0.26972	CTG	-	QPRT	-	-		0.652	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPRT	HGNC	protein_coding	OTTHUMT00000215011.2	0	0	0	87	87	40	0.00	0.00	T	NM_014298		29690479	+1	12	5	67	30	tier1	no_errors	ENST00000219771	ensembl	human	known	74_37	rna	15.19	14.29	SNP	0.003	C	12	67
POU6F1	5463	genome.wustl.edu	37	12	51585487	51585487	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:51585487G>A	ENST00000389243.4	-	10	1391	c.452C>T	c.(451-453)gCc>gTc	p.A151V	POU6F1_ENST00000550824.1_Missense_Mutation_p.A151V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A151V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	151	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AAAGTTCTTGGCAAACTCCCG	0.562													ENSG00000184271																																					0													113.0	111.0	112.0					12																	51585487		2203	4300	6503	SO:0001583	missense	0			-	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.452C>T	12.37:g.51585487G>A	ENSP00000373895:p.Ala151Val		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A151V	ENST00000389243.4	37	c.452	CCDS31803.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.635857	0.96682	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.87571	-2.27;-2.27;-2.27	5.28	5.28	0.74379	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.163213	0.53938	D	0.000047	D	0.92227	0.7535	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92935	0.6367	10	0.87932	D	0	.	17.6761	0.88232	0.0:0.0:1.0:0.0	.	151	Q14863	PO6F1_HUMAN	V	151	ENSP00000373895:A151V;ENSP00000330190:A151V;ENSP00000448389:A151V	ENSP00000330190:A151V	A	-	2	0	POU6F1	49871754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.476000	0.83614	0.561000	0.74099	GCC	-	POU6F1	-	pfam_POU_specific,superfamily_Lambda_D-bd_dom,smart_POU_specific,pfscan_POU_specific		0.562	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	HGNC	protein_coding	OTTHUMT00000405126.1	0	0	0	75	75	56	0.00	0.00	G	NM_002702		51585487	-1	20	20	76	43	tier1	no_errors	ENST00000333640	ensembl	human	known	74_37	missense	20.83	31.75	SNP	1.000	A	20	76
LIMK1	3984	genome.wustl.edu	37	7	73511493	73511493	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:73511493G>A	ENST00000336180.2	+	4	426	c.375G>A	c.(373-375)acG>acA	p.T125T	LIMK1_ENST00000538333.3_Silent_p.T91T|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000418310.1_Silent_p.T155T	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	125	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	ACACCTACACGCTGGTGGAGC	0.622													ENSG00000106683																																					0													93.0	59.0	71.0					7																	73511493		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.375G>A	7.37:g.73511493G>A			B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T125	ENST00000336180.2	37	c.375	CCDS5563.1	7																																																																																			-	LIMK1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.622	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	0	0	0	29	29	55	0.00	0.00	G	NM_002314		73511493	+1	14	24	24	41	tier1	no_errors	ENST00000336180	ensembl	human	known	74_37	silent	36.84	36.92	SNP	0.022	A	14	24
SMR3A	26952	genome.wustl.edu	37	4	71232706	71232706	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:71232706C>T	ENST00000226460.4	+	3	496	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	134	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TACTCCTGCACCCTAAATACA	0.473													ENSG00000109208																																					0													74.0	71.0	72.0					4																	71232706		2203	4300	6503	SO:0001583	missense	0			-	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.400C>T	4.37:g.71232706C>T	ENSP00000226460:p.Pro134Ser			Missense_Mutation	SNP	NULL	p.P134S	ENST00000226460.4	37	c.400	CCDS34000.1	4	.	.	.	.	.	.	.	.	.	.	C	4.814	0.151279	0.09185	.	.	ENSG00000109208	ENST00000226460	T	0.27557	1.66	3.34	0.577	0.17385	.	.	.	.	.	T	0.13884	0.0336	N	0.08118	0	0.09310	N	1	P	0.35242	0.492	B	0.35413	0.202	T	0.17961	-1.0352	9	0.87932	D	0	.	3.1158	0.06373	0.2081:0.5534:0.0:0.2384	.	134	Q99954	SMR3A_HUMAN	S	134	ENSP00000226460:P134S	ENSP00000226460:P134S	P	+	1	0	SMR3A	71267295	0.005000	0.15991	0.009000	0.14445	0.098000	0.18820	0.214000	0.17541	0.074000	0.16767	-0.291000	0.09656	CCC	-	SMR3A	-	NULL		0.473	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	0	0	0	23	23	35	0.00	0.00	C	NM_012390		71232706	+1	12	16	32	43	tier1	no_errors	ENST00000226460	ensembl	human	known	74_37	missense	27.27	27.12	SNP	0.010	T	12	32
PXT1	222659	genome.wustl.edu	37	6	36359632	36359632	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:36359632C>G	ENST00000454782.2	-	5	803	c.320G>C	c.(319-321)aGa>aCa	p.R107T	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	107					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											TAGTGCATCTCTGCCATCCTG	0.318													ENSG00000179165																																					0													98.0	99.0	99.0					6																	36359632		2203	4300	6503	SO:0001583	missense	0			-	AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.320G>C	6.37:g.36359632C>G	ENSP00000419944:p.Arg107Thr		J3KR74	Missense_Mutation	SNP	NULL	p.R107T	ENST00000454782.2	37	c.320	CCDS4820.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.109|6.109	0.388447|0.388447	0.11581|0.11581	.|.	.|.	ENSG00000179165|ENSG00000179165	ENST00000459696|ENST00000454782;ENST00000538109	.|.	.|.	.|.	4.84|4.84	3.97|3.97	0.46021|0.46021	.|.	.|0.174287	.|0.27906	.|N	.|0.017366	T|T	0.50429|0.50429	0.1615|0.1615	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.67725	.|0.953	T|T	0.49532|0.49532	-0.8930|-0.8930	4|8	.|0.42905	.|T	.|0.14	-0.8805|-0.8805	13.384|13.384	0.60785|0.60785	0.1587:0.8413:0.0:0.0|0.1587:0.8413:0.0:0.0	.|.	.|24	.|Q8NFP0	.|PXT1_HUMAN	Q|T	31|107;24	.|.	.|ENSP00000419944:R107T	E|R	-|-	1|2	0|0	PXT1|PXT1	36467610|36467610	0.411000|0.411000	0.25384|0.25384	0.070000|0.070000	0.20053|0.20053	0.003000|0.003000	0.03518|0.03518	1.836000|1.836000	0.39191|0.39191	0.744000|0.744000	0.32741|0.32741	-0.808000|-0.808000	0.03180|0.03180	GAG|AGA	-	PXT1	-	NULL		0.318	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PXT1	HGNC	protein_coding	OTTHUMT00000357516.2	0	0	0	112	112	20	0.00	0.00	C	NM_152990		36359632	-1	51	10	90	23	tier1	no_errors	ENST00000454782	ensembl	human	putative	74_37	missense	36.17	30.30	SNP	0.062	G	51	90
ATP7B	540	genome.wustl.edu	37	13	52511712	52511712	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:52511712C>A	ENST00000242839.4	-	18	3959	c.3803G>T	c.(3802-3804)gGg>gTg	p.G1268V	ATP7B_ENST00000418097.2_Missense_Mutation_p.G1203V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G1061V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G479V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1190V|ATP7B_ENST00000400370.3_Missense_Mutation_p.G838V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1157V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1268					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTCATTGACCCCATCCCCCAC	0.597									Wilson disease				ENSG00000123191																																					0			GRCh37	CD054308	ATP7B	D							83.0	91.0	88.0					13																	52511712		2066	4193	6259	SO:0001583	missense	0	Familial Cancer Database		-	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3803G>T	13.37:g.52511712C>A	ENSP00000242839:p.Gly1268Val		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.G1268V	ENST00000242839.4	37	c.3803	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365783	0.41902	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74;-4.74;-4.74;-4.74	4.73	4.73	0.59995	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.96460	3.825	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98968	1.0800	10	0.87932	D	0	-25.2891	18.2449	0.89982	0.0:1.0:0.0:0.0	.	1190;1220;1203;479;838;1157;1061;1268	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	V	1268;1157;1061;479;1190;838;1203	ENSP00000242839:G1268V;ENSP00000383217:G1157V;ENSP00000342559:G1061V;ENSP00000390360:G479V;ENSP00000416738:G1190V;ENSP00000383221:G838V;ENSP00000393343:G1203V	ENSP00000242839:G1268V	G	-	2	0	ATP7B	51409713	1.000000	0.71417	0.455000	0.27031	0.223000	0.24884	7.562000	0.82300	2.606000	0.88127	0.591000	0.81541	GGG	-	ATP7B	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase		0.597	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	0	0	0	61	61	60	0.00	0.00	C	NM_000053		52511712	-1	7	8	27	42	tier1	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	20.59	16.00	SNP	1.000	A	7	27
MST1R	4486	genome.wustl.edu	37	3	49928639	49928639	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:49928639C>T	ENST00000296474.3	-	17	3662	c.3635G>A	c.(3634-3636)cGg>cAg	p.R1212Q	MST1R_ENST00000344206.4_Missense_Mutation_p.R1163Q	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATGCAGTTCCGCGCAGCCAG	0.612													ENSG00000164078																																					0													66.0	58.0	61.0					3																	49928639		2203	4300	6503	SO:0001583	missense	0			-	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3635G>A	3.37:g.49928639C>T	ENSP00000296474:p.Arg1212Gln		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.R1212Q	ENST00000296474.3	37	c.3635	CCDS2807.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.628532|5.628532	0.96671|0.96671	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000434765;ENST00000440292|ENST00000296474;ENST00000344206	.|D;D	.|0.87334	.|-2.24;-2.24	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94149|0.94149	0.8123|0.8123	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94705|0.94705	0.7887|0.7887	5|10	.|0.87932	.|D	.|0	-25.672|-25.672	19.1005|19.1005	0.93272|0.93272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1212	.|Q04912	.|RON_HUMAN	R|Q	190;233|1212;1163	.|ENSP00000296474:R1212Q;ENSP00000341325:R1163Q	.|ENSP00000296474:R1212Q	G|R	-|-	1|2	0|0	MST1R|MST1R	49903643|49903643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	7.728000|7.728000	0.84847|0.84847	2.508000|2.508000	0.84585|0.84585	0.643000|0.643000	0.83706|0.83706	GGA|CGG	-	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	0	0	0	11	11	25	0.00	0.00	C			49928639	-1	6	6	13	27	tier1	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	31.58	18.18	SNP	1.000	T	6	13
NOC4L	79050	genome.wustl.edu	37	12	132636680	132636680	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:132636680A>G	ENST00000330579.1	+	14	1410	c.1369A>G	c.(1369-1371)Aac>Gac	p.N457D	NOC4L_ENST00000538784.1_Missense_Mutation_p.N72D	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	457					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CAGCGTCATCAACCAGGCCCT	0.692													ENSG00000184967																																					0													41.0	34.0	37.0					12																	132636680		2196	4289	6485	SO:0001583	missense	0			-		CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.1369A>G	12.37:g.132636680A>G	ENSP00000328854:p.Asn457Asp		Q8N2S5|Q96I14	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.N457D	ENST00000330579.1	37	c.1369	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386069	0.61956	.	.	ENSG00000184967	ENST00000330579;ENST00000538784	T;T	0.33654	1.4;1.4	4.59	4.59	0.56863	.	0.101253	0.64402	D	0.000004	T	0.37652	0.1011	M	0.64997	1.995	0.46849	D	0.999224	P	0.50156	0.932	P	0.45167	0.472	T	0.17379	-1.0371	10	0.19590	T	0.45	-33.321	12.2161	0.54406	1.0:0.0:0.0:0.0	.	457	Q9BVI4	NOC4L_HUMAN	D	457;72	ENSP00000328854:N457D;ENSP00000443336:N72D	ENSP00000328854:N457D	N	+	1	0	NOC4L	131202633	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.576000	0.60915	1.695000	0.51148	0.391000	0.25812	AAC	-	NOC4L	-	NULL		0.692	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	0	0	0	43	43	8	0.00	0.00	A	NM_024078		132636680	+1	8	6	46	11	tier1	no_errors	ENST00000330579	ensembl	human	known	74_37	missense	14.81	35.29	SNP	1.000	G	8	46
STRADB	55437	genome.wustl.edu	37	2	202339398	202339398	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:202339398G>A	ENST00000194530.3	+	6	709	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	STRADB_ENST00000392249.2_Missense_Mutation_p.R115Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CACTTTTTCCGGCATCCCAAT	0.383													ENSG00000082146																																					0													93.0	95.0	94.0					2																	202339398		2203	4300	6503	SO:0001583	missense	0			-	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.344G>A	2.37:g.202339398G>A	ENSP00000194530:p.Arg115Gln		Q5BKY7|Q9P1L0	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.R115Q	ENST00000194530.3	37	c.344	CCDS2348.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253499	0.39797	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249	T;T;T	0.64991	-0.13;2.75;2.75	6.07	3.19	0.36642	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.236127	0.43747	N	0.000530	T	0.47040	0.1424	L	0.41824	1.3	0.34494	D	0.705348	B	0.12013	0.005	B	0.14023	0.01	T	0.46219	-0.9207	10	0.13108	T	0.6	.	8.6442	0.33996	0.3872:0.0:0.6128:0.0	.	115	Q9C0K7	STRAB_HUMAN	Q	60;115;115;115	ENSP00000409552:R60Q;ENSP00000194530:R115Q;ENSP00000376080:R115Q	ENSP00000194530:R115Q	R	+	2	0	STRADB	202047643	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.176000	0.31957	0.383000	0.24910	-0.345000	0.07892	CGG	-	STRADB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.383	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADB	HGNC	protein_coding	OTTHUMT00000256297.1	0	0	0	89	89	22	0.00	0.00	G	NM_018571		202339398	+1	7	6	75	27	tier1	no_errors	ENST00000194530	ensembl	human	known	74_37	missense	8.54	18.18	SNP	0.996	A	7	75
SYN3	8224	genome.wustl.edu	37	22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:32909719C>T	ENST00000358763.2	-	14	1945	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.R568H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	568	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.R568H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572													ENSG00000185666																																					1	Substitution - Missense(1)	large_intestine(1)											160.0	115.0	130.0					22																	32909719		2203	4300	6503	SO:0001583	missense	0			-	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1703G>A	22.37:g.32909719C>T	ENSP00000351614:p.Arg568His		B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin	p.R568H	ENST00000358763.2	37	c.1703	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.518069	0.96416	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.53640	0.61;0.61	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.72141	-0.4380	10	0.87932	D	0	-4.6075	19.5608	0.95371	0.0:1.0:0.0:0.0	.	567;568	Q17R54;O14994	.;SYN3_HUMAN	H	568;568;174	ENSP00000351614:R568H;ENSP00000330219:R568H	ENSP00000330219:R568H	R	-	2	0	SYN3	31239719	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	CGC	-	SYN3	-	NULL		0.572	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	0	0	0	29	29	73	0.00	0.00	C			32909719	-1	13	42	17	69	tier1	no_errors	ENST00000332840	ensembl	human	known	74_37	missense	43.33	37.84	SNP	1.000	T	13	17
LIPJ	142910	genome.wustl.edu	37	10	90365424	90365424	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:90365424G>T	ENST00000371939.3	+	10	1144	c.830G>T	c.(829-831)tGg>tTg	p.W277L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	277					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		GCTTATGACTGGGGCAGTCCT	0.333													ENSG00000204022																																					0													93.0	94.0	94.0					10																	90365424		2203	4300	6503	SO:0001583	missense	0			-	BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.830G>T	10.37:g.90365424G>T	ENSP00000361007:p.Trp277Leu		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.W277L	ENST00000371939.3	37	c.830	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456685	0.26161	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.70164	-0.46;-0.46	4.0	3.06	0.35304	Alpha/beta hydrolase fold-1 (1);	0.000000	0.44285	D	0.000464	T	0.76485	0.3994	M	0.68593	2.085	0.32627	N	0.522553	D	0.89917	1.0	D	0.72338	0.977	T	0.80659	-0.1284	10	0.87932	D	0	-22.4992	8.9189	0.35599	0.0:0.0:0.5954:0.4046	.	277	Q5W064	LIPJ_HUMAN	L	277;92	ENSP00000361007:W277L;ENSP00000434211:W92L	ENSP00000361007:W277L	W	+	2	0	LIPJ	90355404	1.000000	0.71417	0.985000	0.45067	0.009000	0.06853	2.724000	0.47285	0.959000	0.37980	0.643000	0.83706	TGG	-	LIPJ	-	pfam_AB_hydrolase_1		0.333	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2	0	0	0	39	39	33	0.00	0.00	G	XM_084377		90365424	+1	17	14	21	26	tier1	no_errors	ENST00000371939	ensembl	human	known	74_37	missense	44.74	35.00	SNP	0.998	T	17	21
PRSS41	360226	genome.wustl.edu	37	16	2855011	2855011	+	RNA	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:2855011C>T	ENST00000399677.1	+	0	835							Q7RTY9	PRS41_HUMAN	protease, serine, 41							anchored component of membrane (GO:0031225)|intracellular organelle (GO:0043229)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)										ACCCAATCGGCCTGGTGTCTA	0.572													ENSG00000215148																																					0													214.0	183.0	193.0					16																	2855011		692	1591	2283			0			-			16p13.3	2014-04-01			ENSG00000215148	ENSG00000215148		"""Serine peptidases / Serine peptidases"""	30715	other	unknown	"""testis serine protease 1"""					12838346	Standard	NM_001135086		Approved	TESSP1	uc010uwi.2	Q7RTY9	OTTHUMG00000128932		16.37:g.2855011C>T				R	SNP	-	NULL	ENST00000399677.1	37	NULL		16																																																																																			-	PRSS41	-	-		0.572	PRSS41-002	KNOWN	basic	processed_transcript	PRSS41	HGNC	pseudogene	OTTHUMT00000436450.1	0	0	0	68	68	89	0.00	0.00	C	NM_183379		2855011	+1	21	39	56	77	tier1	no_errors	ENST00000399677	ensembl	human	known	74_37	rna	27.27	33.62	SNP	0.229	T	21	56
ZC3H13	23091	genome.wustl.edu	37	13	46543874	46543874	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:46543874C>A	ENST00000242848.4	-	14	3153	c.2805G>T	c.(2803-2805)caG>caT	p.Q935H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.Q935H|ZC3H13_ENST00000378921.2_5'Flank			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	935							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTATAATGTCCTGTGCACGCA	0.408													ENSG00000123200																									Esophageal Squamous(187;747 2077 11056 31291 44172)												0													323.0	294.0	304.0					13																	46543874		2203	4300	6503	SO:0001583	missense	0			-	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2805G>T	13.37:g.46543874C>A	ENSP00000242848:p.Gln935His		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.Q935H	ENST00000242848.4	37	c.2805		13	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084911	0.20390	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.34472	2.36;1.36	6.17	-2.11	0.07187	.	0.000000	0.64402	D	0.000011	T	0.46151	0.1378	L	0.60455	1.87	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.58172	0.687;0.834	T	0.50482	-0.8823	10	0.54805	T	0.06	.	14.1248	0.65213	0.0:0.5198:0.0:0.4802	.	935;935	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	935	ENSP00000242848:Q935H;ENSP00000282007:Q935H	ENSP00000242848:Q935H	Q	-	3	2	ZC3H13	45441875	0.131000	0.22433	0.744000	0.31058	0.909000	0.53808	-0.331000	0.07914	-0.269000	0.09298	-0.136000	0.14681	CAG	-	ZC3H13	-	NULL		0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	0	0	0	32	32	33	0.00	0.00	C	NM_015070		46543874	-1	7	14	30	32	tier1	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	18.92	30.43	SNP	0.896	A	7	30
TMEM51	55092	genome.wustl.edu	37	1	15478798	15478798	+	5'Flank	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:15478798C>T	ENST00000428417.1	+	0	0				TMEM51_ENST00000376008.2_5'Flank|TMEM51_ENST00000376014.3_5'Flank|TMEM51-AS1_ENST00000310916.3_RNA|TMEM51_ENST00000434578.2_5'Flank|TMEM51_ENST00000400796.3_5'Flank	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		TTTTTGTGGACGCCAAGGTTC	0.512											OREG0013124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000175147																																					0													127.0	114.0	118.0					1																	15478798		692	1591	2283	SO:0001631	upstream_gene_variant	0			-	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046		1.37:g.15478798C>T	Exception_encountered	703	A8K819	R	SNP	-	NULL	ENST00000428417.1	37	NULL	CCDS154.1	1																																																																																			-	TMEM51-AS1	-	-		0.512	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51-AS1	HGNC	protein_coding	OTTHUMT00000005699.3	0	0	0	84	84	64	0.00	0.00	C	NM_018022		15478798	-1	33	22	44	48	tier1	no_errors	ENST00000310916	ensembl	human	known	74_37	rna	42.86	31.43	SNP	0.001	T	33	44
NYX	60506	genome.wustl.edu	37	X	41331557	41331557	+	Intron	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:41331557G>A	ENST00000342595.2	+	2	493				NYX_ENST00000486842.1_3'UTR|NYX_ENST00000378220.1_Intron	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin						response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TCGGAGCAGCGCCTCTGCTTG	0.512													ENSG00000188937																																					0																																										SO:0001627	intron_variant	0			-	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.38-1187G>A	X.37:g.41331557G>A			D3DWC0|Q2M1S4|Q5H983|Q9H4J0	R	SNP	-	NULL	ENST00000342595.2	37	NULL	CCDS14256.1	X																																																																																			-	NYX	-	-		0.512	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1	0	0	0	11	11	10	0.00	0.00	G	NM_022567		41331557	+1	7	4	19	12	tier1	no_errors	ENST00000486842	ensembl	human	known	74_37	rna	25.93	25.00	SNP	1.000	A	7	19
HSD11B1	3290	genome.wustl.edu	37	1	209880054	209880054	+	Splice_Site	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:209880054G>A	ENST00000367028.2	+	4	389	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	HSD11B1_ENST00000367027.3_Splice_Site_p.V74M|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Splice_Site_p.V74M	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	74					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	ATCACTGCAGGTGGTATCCCA	0.522													ENSG00000117594																																					0													186.0	175.0	179.0					1																	209880054		2203	4300	6503	SO:0001630	splice_region_variant	0			-	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.220-1G>A	1.37:g.209880054G>A			B2R9Z1|D3DT89	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.V74M	ENST00000367028.2	37	c.220	CCDS1489.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012955	0.54468	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.88509	-2.39;-2.39;-2.39	5.16	3.29	0.37713	NAD(P)-binding domain (1);	0.125426	0.53938	D	0.000042	D	0.93733	0.7997	M	0.83012	2.62	0.45704	D	0.99861	D	0.89917	1.0	D	0.75020	0.985	D	0.93239	0.6624	9	.	.	.	.	12.0382	0.53438	0.1445:0.0:0.8555:0.0	.	74	P28845	DHI1_HUMAN	M	74	ENSP00000355995:V74M;ENSP00000261465:V74M;ENSP00000355994:V74M	.	V	+	1	0	HSD11B1	207946677	1.000000	0.71417	0.992000	0.48379	0.518000	0.34316	3.525000	0.53502	0.840000	0.34995	0.563000	0.77884	GTG	-	HSD11B1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR		0.522	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	HGNC	protein_coding	OTTHUMT00000088743.2	0	0	0	24	24	24	0.00	0.00	G	NM_005525	Missense_Mutation	209880054	+1	7	11	47	49	tier1	no_errors	ENST00000261465	ensembl	human	known	74_37	missense	12.96	18.33	SNP	1.000	A	7	47
C10orf54	64115	genome.wustl.edu	37	10	73512760	73512760	+	Splice_Site	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:73512760C>A	ENST00000394957.3	-	5	735		c.e5-1		CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54						BMP signaling pathway (GO:0030509)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of T cell cytokine production (GO:0002725)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of stem cell differentiation (GO:2000738)|stem cell differentiation (GO:0048863)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCCTGGGCACCTAGGGACAGA	0.577													ENSG00000107738																																					0													52.0	47.0	49.0					10																	73512760		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF193048	CCDS31218.1	10q22.1	2013-11-28			ENSG00000107738	ENSG00000107738		"""Immunoglobulin superfamily / V-set domain containing"""	30085	protein-coding gene	gene with protein product	"""stress induced secreted protein 1"""	615608				12975309	Standard	NM_022153		Approved	SISP1, GI24, B7-H5, B7H5	uc001jsd.3	Q9H7M9	OTTHUMG00000018426	ENST00000394957.3:c.677-1G>T	10.37:g.73512760C>A			A1L0X9|A4ZYV1|A8MVH5|Q6UXF3|Q8WUG3|Q8WYZ8	Splice_Site	SNP	-	e5-1	ENST00000394957.3	37	c.677-1	CCDS31218.1	10	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343122	0.82022	.	.	ENSG00000107738	ENST00000394957	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6425	0.91400	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf54	73182766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.695000	0.68279	2.757000	0.94681	0.462000	0.41574	.	-	C10orf54	-	-		0.577	C10orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf54	HGNC	protein_coding	OTTHUMT00000048548.1	0	0	0	80	80	41	0.00	0.00	C	NM_022153	Intron	73512760	-1	10	18	61	80	tier1	no_errors	ENST00000394957	ensembl	human	known	74_37	splice_site	14.08	18.37	SNP	1.000	A	10	61
RHO	6010	genome.wustl.edu	37	3	129249825	129249825	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:129249825C>T	ENST00000296271.3	+	2	562	c.468C>T	c.(466-468)ggC>ggT	p.G156G		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	156					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCATGGGCGTTGCCTTCA	0.642													ENSG00000163914																									Esophageal Squamous(118;214 1623 30842 43234 46940)												0													164.0	129.0	141.0					3																	129249825		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.468C>T	3.37:g.129249825C>T			Q16414|Q2M249	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin	p.G156	ENST00000296271.3	37	c.468	CCDS3063.1	3																																																																																			-	RHO	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.642	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	HGNC	protein_coding	OTTHUMT00000356101.1	0	0	0	34	34	34	0.00	0.00	C	NM_000539		129249825	+1	11	13	24	29	tier1	no_errors	ENST00000296271	ensembl	human	known	74_37	silent	31.43	30.95	SNP	0.791	T	11	24
THBS3	7059	genome.wustl.edu	37	1	155172080	155172080	+	Missense_Mutation	SNP	C	C	T	rs200881809		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:155172080C>T	ENST00000368378.3	-	9	1090	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.G237D|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	357					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATAGTCAATGCCCACACCAGA	0.602													ENSG00000169231																																					0													93.0	85.0	88.0					1																	155172080		2203	4300	6503	SO:0001583	missense	0			-	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1070G>A	1.37:g.155172080C>T	ENSP00000357362:p.Gly357Asp		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G357D	ENST00000368378.3	37	c.1070	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865615	0.91511	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	D;D;D	0.87491	-1.71;-1.73;-2.26	5.44	5.44	0.79542	EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.93529	0.6868	10	0.66056	D	0.02	-32.1083	16.8112	0.85720	0.0:1.0:0.0:0.0	.	237;357;357;357	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	357;237;207	ENSP00000357362:G357D;ENSP00000392207:G237D;ENSP00000404040:G207D	ENSP00000357362:G357D	G	-	2	0	THBS3	153438704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.235000	0.78143	2.837000	0.97791	0.655000	0.94253	GGC	rs200881809	THBS3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom		0.602	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	0	0	0	65	65	58	0.00	0.00	C	NM_007112		155172080	-1	21	24	31	39	tier1	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	40.38	38.10	SNP	1.000	T	21	31
KSR1	8844	genome.wustl.edu	37	17	25932715	25932715	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:25932715C>A	ENST00000319524.6	+	15	1936	c.1936C>A	c.(1936-1938)Cac>Aac	p.H646N	KSR1_ENST00000268763.6_Missense_Mutation_p.H509N|KSR1_ENST00000398988.3_Missense_Mutation_p.H509N|KSR1_ENST00000509603.2_Missense_Mutation_p.H624N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATGGACGGCCACAACCAGGA	0.657													ENSG00000141068																									Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													18.0	20.0	20.0					17																	25932715		2035	4188	6223	SO:0001583	missense	0			-	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1936C>A	17.37:g.25932715C>A	ENSP00000323178:p.His646Asn		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H646N	ENST00000319524.6	37	c.1936		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.675|9.675	1.147655|1.147655	0.21288|0.21288	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	D;D;D|.	0.82167|.	-1.58;-1.58;-1.58|.	5.67|5.67	3.47|3.47	0.39725|0.39725	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.082550|.	0.85682|.	D|.	0.000000|.	T|T	0.20820|0.20820	0.0501|0.0501	N|N	0.01168|0.01168	-0.975|-0.975	0.37409|0.37409	D|D	0.913164|0.913164	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.0|.	T|T	0.17349|0.17349	-1.0372|-1.0372	10|5	0.27785|.	T|.	0.31|.	.|.	13.2547|13.2547	0.60073|0.60073	0.4023:0.5977:0.0:0.0|0.4023:0.5977:0.0:0.0	.|.	644;624|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	N|Q	646;624;509;509|359	ENSP00000323178:H646N;ENSP00000438795:H624N;ENSP00000268763:H509N|.	ENSP00000268763:H509N|.	H|P	+|+	1|2	0|0	KSR1|KSR1	22956842|22956842	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.186000|3.186000	0.50942|0.50942	1.383000|1.383000	0.46405|0.46405	0.655000|0.655000	0.94253|0.94253	CAC|CCA	-	KSR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.657	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		0	0	0	43	43	48	0.00	0.00	C	NM_014238		25932715	+1	11	17	27	23	tier1	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	28.95	42.50	SNP	1.000	A	11	27
VWDE	221806	genome.wustl.edu	37	7	12375778	12375778	+	Missense_Mutation	SNP	C	C	T	rs544020247	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:12375778C>T	ENST00000275358.3	-	27	4831	c.4643G>A	c.(4642-4644)cGg>cAg	p.R1548Q		NM_001135924.1	NP_001129396.1	Q8N2E2	VWDE_HUMAN	von Willebrand factor D and EGF domains	1548	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)				breast(4)|endometrium(2)|kidney(1)|skin(1)	8						TATTTGACACCGCACTCCTTC	0.408													ENSG00000146530																																					0													116.0	113.0	114.0					7																	12375778		692	1591	2283	SO:0001583	missense	0			-		CCDS47544.1	7p21.3	2008-09-23			ENSG00000146530	ENSG00000146530			21897	protein-coding gene	gene with protein product						14702039, 16303743	Standard	NM_001135924		Approved	FLJ14712	uc003ssj.2	Q8N2E2	OTTHUMG00000152315	ENST00000275358.3:c.4643G>A	7.37:g.12375778C>T	ENSP00000275358:p.Arg1548Gln		B7ZM77|Q96SQ3	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,pfscan_EG-like_dom	p.R1548Q	ENST00000275358.3	37	c.4643	CCDS47544.1	7	.	.	.	.	.	.	.	.	.	.	C	8.516	0.867705	0.17250	.	.	ENSG00000146530	ENST00000275358	T	0.60797	0.16	4.8	1.1	0.20463	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.542919	0.20787	N	0.085684	T	0.23965	0.0580	N	0.01410	-0.885	0.23162	N	0.998191	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	10	0.23302	T	0.38	.	8.6994	0.34316	0.0:0.2217:0.0:0.7783	.	1548	Q8N2E2	VWDE_HUMAN	Q	1548	ENSP00000275358:R1548Q	ENSP00000275358:R1548Q	R	-	2	0	VWDE	12342303	1.000000	0.71417	0.678000	0.29963	0.896000	0.52359	0.746000	0.26275	0.104000	0.17725	-0.339000	0.08088	CGG	-	VWDE	-	pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom		0.408	VWDE-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VWDE	HGNC	protein_coding	OTTHUMT00000325870.3	0	0	0	161	161	43	0.00	0.00	C	XM_371878		12375778	-1	59	23	121	43	tier1	no_errors	ENST00000275358	ensembl	human	novel	74_37	missense	32.78	34.85	SNP	0.984	T	59	121
AEBP1	165	genome.wustl.edu	37	7	44152925	44152925	+	Silent	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:44152925T>C	ENST00000223357.3	+	20	3089	c.2784T>C	c.(2782-2784)agT>agC	p.S928S	AEBP1_ENST00000450684.2_Silent_p.S503S|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	928	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TCTCTGTGAGTGGCATTAATC	0.597													ENSG00000106624																																					0													80.0	61.0	67.0					7																	44152925		2203	4299	6502	SO:0001819	synonymous_variant	0			-	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2784T>C	7.37:g.44152925T>C			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.S928	ENST00000223357.3	37	c.2784	CCDS5476.1	7																																																																																			-	AEBP1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14		0.597	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	0	0	0	20	20	49	0.00	0.00	T	NM_001129		44152925	+1	12	19	9	51	tier1	no_errors	ENST00000223357	ensembl	human	known	74_37	silent	57.14	27.14	SNP	0.856	C	12	9
PCLO	27445	genome.wustl.edu	37	7	82581542	82581542	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:82581542G>A	ENST00000333891.9	-	5	9064	c.8727C>T	c.(8725-8727)gtC>gtT	p.V2909V	PCLO_ENST00000423517.2_Silent_p.V2909V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.V2909V(2)|p.V2840V(1)		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						CCATTGTTACGACTGTTCTGT	0.448													ENSG00000186472																																					3	Substitution - coding silent(3)	large_intestine(3)											207.0	196.0	199.0					7																	82581542		1965	4152	6117	SO:0001819	synonymous_variant	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.8727C>T	7.37:g.82581542G>A				Silent	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.V2909	ENST00000333891.9	37	c.8727	CCDS47630.1	7																																																																																			-	PCLO	-	NULL		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0	0	37	37	66	0.00	0.00	G	NM_014510		82581542	-1	18	44	24	64	tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	42.86	40.37	SNP	0.808	A	18	24
DROSHA	29102	genome.wustl.edu	37	5	31529150	31529150	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:31529150G>A	ENST00000511367.2	-	3	261	c.17C>T	c.(16-18)aCa>aTa	p.T6I	DROSHA_ENST00000504361.1_5'UTR|DROSHA_ENST00000442743.1_Missense_Mutation_p.T6I|DROSHA_ENST00000344624.3_Missense_Mutation_p.T6I|DROSHA_ENST00000513349.1_Missense_Mutation_p.T6I	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	6	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CACTCACCATGTGTTTCCCTG	0.428													ENSG00000113360																																					0													111.0	108.0	109.0					5																	31529150		1999	4188	6187	SO:0001583	missense	0			-	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.17C>T	5.37:g.31529150G>A	ENSP00000425979:p.Thr6Ile		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsR-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsR-bd_dom,pfscan_dsR-bd_dom,pfscan_RNase_III_dom	p.T6I	ENST00000511367.2	37	c.17	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816684	0.32145	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000507438	T;T;T;T;T	0.42513	1.58;1.58;0.97;0.97;0.98	4.11	3.24	0.37175	.	0.738248	0.11630	N	0.544883	T	0.23249	0.0562	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.06405	0.002;0.002	T	0.15694	-1.0428	10	0.87932	D	0	.	7.8966	0.29710	0.1118:0.0:0.8882:0.0	.	6;6	E7EMP9;Q9NRR4	.;RNC_HUMAN	I	6	ENSP00000425979:T6I;ENSP00000339845:T6I;ENSP00000409335:T6I;ENSP00000424161:T6I;ENSP00000430921:T6I	ENSP00000339845:T6I	T	-	2	0	DROSHA	31564907	0.017000	0.18338	0.005000	0.12908	0.238000	0.25445	2.364000	0.44187	1.332000	0.45431	0.563000	0.77884	ACA	-	DROSHA	-	NULL		0.428	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	0	0	0	49	49	88	0.00	0.00	G	NM_013235		31529150	-1	7	11	41	84	tier1	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	14.58	11.58	SNP	0.005	A	7	41
WASF3	10810	genome.wustl.edu	37	13	27250749	27250749	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:27250749C>T	ENST00000335327.5	+	7	782	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	WASF3_ENST00000361042.4_Intron|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	202					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)		p.R202C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGAAACAGGCGCCAGGAGTG	0.502													ENSG00000132970																																					1	Substitution - Missense(1)	large_intestine(1)											132.0	130.0	131.0					13																	27250749		2203	4300	6503	SO:0001583	missense	0			-	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.604C>T	13.37:g.27250749C>T	ENSP00000335055:p.Arg202Cys		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R202C	ENST00000335327.5	37	c.604	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954114	0.92726	.	.	ENSG00000132970	ENST00000335327	T	0.49432	0.78	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.70850	-0.4760	10	0.87932	D	0	-11.6242	19.9634	0.97258	0.0:1.0:0.0:0.0	.	202	Q9UPY6	WASF3_HUMAN	C	202	ENSP00000335055:R202C	ENSP00000335055:R202C	R	+	1	0	WASF3	26148749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.478000	0.66806	2.726000	0.93360	0.591000	0.81541	CGC	-	WASF3	-	NULL		0.502	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	0	0	0	42	42	23	0.00	0.00	C			27250749	+1	9	10	31	32	tier1	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	22.50	23.81	SNP	1.000	T	9	31
PDZD2	23037	genome.wustl.edu	37	5	32088059	32088059	+	Missense_Mutation	SNP	C	C	T	rs373613274		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:32088059C>T	ENST00000438447.1	+	20	4893	c.4505C>T	c.(4504-4506)tCg>tTg	p.S1502L	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1502L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1502					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCCAGCCTTCGGTTTTAGAT	0.537													ENSG00000133401																																					0								C	LEU/SER	1,4405		0,1,2202	19.0	22.0	21.0		4505	5.6	0.9	5		21	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1502/2840	32088059	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4505C>T	5.37:g.32088059C>T	ENSP00000402033:p.Ser1502Leu		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1502L	ENST00000438447.1	37	c.4505	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830251	0.71258	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.38560	1.13;1.13	5.55	5.55	0.83447	.	0.000000	0.44285	D	0.000473	T	0.63988	0.2558	M	0.65498	2.005	0.46542	D	0.99909	D	0.89917	1.0	D	0.79108	0.992	T	0.66196	-0.5984	10	0.87932	D	0	.	17.0083	0.86399	0.0:1.0:0.0:0.0	.	1502	O15018	PDZD2_HUMAN	L	1502;1303;1502	ENSP00000402033:S1502L;ENSP00000282493:S1502L	ENSP00000282493:S1502L	S	+	2	0	PDZD2	32123816	1.000000	0.71417	0.943000	0.38184	0.369000	0.29798	5.961000	0.70356	2.618000	0.88619	0.655000	0.94253	TCG	-	PDZD2	-	NULL		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	0	0	0	110	110	63	0.00	0.00	C			32088059	+1	19	18	85	53	tier1	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	18.27	25.35	SNP	0.992	T	19	85
ARHGEF28	64283	genome.wustl.edu	37	5	73188016	73188016	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:73188016G>A	ENST00000426542.2	+	26	3547	c.3527G>A	c.(3526-3528)cGc>cAc	p.R1176H	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R140H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R863H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1176H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1176H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1176	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AAGGAGGAACGCAATAACTGG	0.433													ENSG00000214944																																					0													85.0	84.0	84.0					5																	73188016		1989	4155	6144	SO:0001583	missense	0			-		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3527G>A	5.37:g.73188016G>A	ENSP00000412175:p.Arg1176His		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R1176H	ENST00000426542.2	37	c.3527	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.469757	0.96274	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.75	5.75	0.90469	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.29480	U	0.012035	D	0.85292	0.5663	M	0.87900	2.915	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.998;1.0;0.998	D	0.86918	0.2065	10	0.87932	D	0	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	863;1176;1176;140;1176	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	H	1176;1176;1176;1176;1176;1176;863;140	ENSP00000296794:R1176H;ENSP00000441913:R1176H;ENSP00000441436:R1176H;ENSP00000287898:R1176H;ENSP00000411459:R1176H;ENSP00000412175:R1176H;ENSP00000296799:R863H;ENSP00000421081:R140H	ENSP00000287898:R1176H	R	+	2	0	RP11-428C6.1	73223772	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	9.398000	0.97281	2.719000	0.93026	0.655000	0.94253	CGC	-	ARHGEF28	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.433	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	0	0	0	69	69	64	0.00	0.00	G			73188016	+1	15	19	87	100	tier1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	14.71	15.97	SNP	1.000	A	15	87
PCDHGB2	56103	genome.wustl.edu	37	5	140739910	140739910	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140739910G>A	ENST00000522605.1	+	1	208	c.208G>A	c.(208-210)Gcg>Acg	p.A70T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGTTAGCGCGGAGAAGGA	0.542													ENSG00000253910																																					0													70.0	74.0	73.0					5																	140739910		1841	4081	5922	SO:0001583	missense	0			-	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.208G>A	5.37:g.140739910G>A	ENSP00000429018:p.Ala70Thr		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A70T	ENST00000522605.1	37	c.208	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	6.334	0.429740	0.11987	.	.	ENSG00000253910	ENST00000522605	T	0.37915	1.17	5.11	3.16	0.36331	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.23330	0.0564	N	0.25144	0.715	0.09310	N	1	B;B	0.31519	0.28;0.327	B;B	0.31812	0.077;0.136	T	0.14117	-1.0484	9	0.31617	T	0.26	.	7.8478	0.29435	0.0768:0.0:0.5292:0.394	.	70;70	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	T	70	ENSP00000429018:A70T	ENSP00000429018:A70T	A	+	1	0	PCDHGB2	140720094	0.000000	0.05858	0.633000	0.29310	0.290000	0.27261	-0.135000	0.10420	1.227000	0.43598	0.563000	0.77884	GCG	-	PCDHGB2	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.542	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	0	0	1	49	49	116	0.00	0.85	G	NM_018923		140739910	+1	7	12	46	95	tier1	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	13.21	11.21	SNP	0.050	A	7	46
SLC41A1	254428	genome.wustl.edu	37	1	205779322	205779322	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:205779322C>T	ENST00000367137.3	-	2	1262	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	83					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGCAGGGCCACGGTCTGTGCT	0.622													ENSG00000133065																																					0													157.0	133.0	141.0					1																	205779322		2203	4300	6503	SO:0001583	missense	0			-	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.248G>A	1.37:g.205779322C>T	ENSP00000356105:p.Arg83His		Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	pfam_SLC41_membr_dom	p.R83H	ENST00000367137.3	37	c.248	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291265	0.40494	.	.	ENSG00000133065	ENST00000367137	T	0.31769	1.48	5.62	-3.81	0.04294	.	0.708789	0.15030	N	0.284499	T	0.14056	0.0340	N	0.17474	0.49	0.21579	N	0.999631	D	0.54772	0.968	B	0.41036	0.346	T	0.24621	-1.0155	10	0.42905	T	0.14	-16.1578	7.0092	0.24853	0.0:0.4062:0.1847:0.4091	.	83	Q8IVJ1	S41A1_HUMAN	H	83	ENSP00000356105:R83H	ENSP00000356105:R83H	R	-	2	0	SLC41A1	204045945	0.002000	0.14202	0.008000	0.14137	0.606000	0.37113	0.004000	0.13106	-0.702000	0.05056	-1.108000	0.02087	CGT	-	SLC41A1	-	NULL		0.622	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	0	0	0	51	51	73	0.00	0.00	C			205779322	-1	15	7	47	50	tier1	no_errors	ENST00000367137	ensembl	human	known	74_37	missense	24.19	12.28	SNP	0.001	T	15	47
COMP	1311	genome.wustl.edu	37	19	18895803	18895803	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:18895803C>T	ENST00000222271.2	-	16	1861	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N	COMP_ENST00000425807.1_Missense_Mutation_p.S553N|COMP_ENST00000542601.2_Missense_Mutation_p.S573N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	606	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAAGCTGGAGCTGTCCTGGTA	0.567													ENSG00000105664																																					0													194.0	153.0	167.0					19																	18895803		2203	4300	6503	SO:0001583	missense	0			-	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1817G>A	19.37:g.18895803C>T	ENSP00000222271:p.Ser606Asn		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S606N	ENST00000222271.2	37	c.1817	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759557	0.69763	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.91180	-2.8;-2.8;-2.8	4.19	3.13	0.36017	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.85682	U	0.000000	D	0.90137	0.6918	N	0.25201	0.72	0.80722	D	1	B;D	0.89917	0.142;1.0	B;D	0.87578	0.116;0.998	D	0.86835	0.2013	10	0.23302	T	0.38	-51.7315	12.5228	0.56069	0.0:0.8297:0.1703:0.0	.	553;606	B4DKJ3;P49747	.;COMP_HUMAN	N	573;606;553;593	ENSP00000439156:S573N;ENSP00000222271:S606N;ENSP00000403792:S553N	ENSP00000222271:S606N	S	-	2	0	COMP	18756803	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.604000	0.61112	0.941000	0.37499	0.484000	0.47621	AGC	-	COMP	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf		0.567	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	0	0	0	31	31	59	0.00	0.00	C	NM_000095		18895803	-1	12	29	24	41	tier1	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	33.33	41.43	SNP	1.000	T	12	24
GLCE	26035	genome.wustl.edu	37	15	69561452	69561452	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:69561452C>T	ENST00000261858.2	+	5	1951	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C	GLCE_ENST00000559420.2_Missense_Mutation_p.R511C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	575					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TAACCTGGCTCGCTGGGACTA	0.483													ENSG00000138604																																					0													202.0	192.0	196.0					15																	69561452		2200	4298	6498	SO:0001583	missense	0			-	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1723C>T	15.37:g.69561452C>T	ENSP00000261858:p.Arg575Cys		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R575C	ENST00000261858.2	37	c.1723	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802547	0.70682	.	.	ENSG00000138604	ENST00000261858	T	0.49432	0.78	5.0	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75059	-0.3451	10	0.87932	D	0	-33.3551	12.1532	0.54062	0.0:0.9155:0.0:0.0845	.	575	O94923	GLCE_HUMAN	C	575	ENSP00000261858:R575C	ENSP00000261858:R575C	R	+	1	0	GLCE	67348506	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.684000	0.84104	1.232000	0.43678	0.563000	0.77884	CGC	-	GLCE	-	pfam_C5-epim		0.483	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		0	0	0	34	34	45	0.00	0.00	C	NM_015554		69561452	+1	5	13	43	71	tier1	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	10.42	15.48	SNP	1.000	T	5	43
HMHA1	23526	genome.wustl.edu	37	19	1080305	1080305	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:1080305G>A	ENST00000313093.2	+	14	1986	c.1755G>A	c.(1753-1755)gcG>gcA	p.A585A	HMHA1_ENST00000590214.1_Silent_p.A612A|HMHA1_ENST00000590577.1_Silent_p.A220A|HMHA1_ENST00000586866.1_Silent_p.A589A|HMHA1_ENST00000543365.1_Silent_p.A468A|HMHA1_ENST00000536472.1_Silent_p.A425A|HMHA1_ENST00000539243.2_Silent_p.A601A	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	585					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGTGGCGCGGCCGGAGG	0.677													ENSG00000180448																																					0													48.0	55.0	53.0					19																	1080305		2203	4297	6500	SO:0001819	synonymous_variant	0			-	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1755G>A	19.37:g.1080305G>A			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A585	ENST00000313093.2	37	c.1755	CCDS32863.1	19																																																																																			-	HMHA1	-	NULL		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	0	0	0	44	44	23	0.00	0.00	G			1080305	+1	9	13	23	27	tier1	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	28.12	30.95	SNP	0.000	A	9	23
ZNF788	388507	genome.wustl.edu	37	19	12223906	12223906	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:12223906G>A	ENST00000339302.4	+	3	2181	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000397759.3_Missense_Mutation_p.S134N|ZNF788_ENST00000430298.2_3'UTR			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						CGTTACTGGAGTGGCCTTCGA	0.388													ENSG00000188474																									Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			-	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1544G>A	19.37:g.12223906G>A	ENSP00000342021:p.Ser515Asn		Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S515N	ENST00000339302.4	37	c.1544		19	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641632	0.29157	.	.	ENSG00000188474	ENST00000339302;ENST00000397759	T;T	0.25912	3.17;1.77	0.681	0.681	0.17986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29588	0.0738	.	.	.	.	.	.	P	0.52842	0.956	P	0.50270	0.636	T	0.41448	-0.9508	7	0.72032	D	0.01	.	6.4485	0.21890	0.0:0.3085:0.6915:0.0	.	515	Q6ZQV5	ZN788_HUMAN	N	515;134	ENSP00000342021:S515N;ENSP00000380866:S134N	ENSP00000342021:S515N	S	+	2	0	AC022415.1	12084906	0.038000	0.19896	0.004000	0.12327	0.661000	0.39034	0.082000	0.14847	0.629000	0.30376	0.313000	0.20887	AGT	-	ZNF788	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_gn	protein_coding		0	0	0	86	86	57	0.00	0.00	G	XM_930581		12223906	+1	12	21	62	60	tier1	no_errors	ENST00000339302	ensembl	human	known	74_37	missense	16.22	25.93	SNP	0.000	A	12	62
LRP1B	53353	genome.wustl.edu	37	2	141762962	141762962	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:141762962G>A	ENST00000389484.3	-	15	3416	c.2445C>T	c.(2443-2445)ggC>ggT	p.G815G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	815	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACACACCCGGCCTCCTGGGA	0.443										TSP Lung(27;0.18)			ENSG00000168702																									Colon(99;50 2074 2507 20106)												0													84.0	81.0	82.0					2																	141762962		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2445C>T	2.37:g.141762962G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G815	ENST00000389484.3	37	c.2445	CCDS2182.1	2																																																																																			-	LRP1B	-	smart_EG-like_dom		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	0	0	0	32	32	32	0.00	0.00	G	NM_018557		141762962	-1	12	13	73	91	tier1	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	13.95	12.50	SNP	0.993	A	12	73
PCDH18	54510	genome.wustl.edu	37	4	138452382	138452382	+	Silent	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:138452382A>G	ENST00000344876.4	-	1	1247	c.861T>C	c.(859-861)agT>agC	p.S287S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S287S|PCDH18_ENST00000507846.1_Silent_p.S67S|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAGACACATGACTGCTGAAGG	0.398													ENSG00000189184																																					0													43.0	46.0	45.0					4																	138452382		2201	4300	6501	SO:0001819	synonymous_variant	0			-	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.861T>C	4.37:g.138452382A>G			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S287	ENST00000344876.4	37	c.861	CCDS34064.1	4																																																																																			-	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	0	0	0	36	36	43	0.00	0.00	A	NM_019035		138452382	-1	6	15	60	72	tier1	no_errors	ENST00000344876	ensembl	human	known	74_37	silent	9.09	17.05	SNP	0.954	G	6	60
R3HDM1	23518	genome.wustl.edu	37	2	136396582	136396582	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:136396582G>A	ENST00000264160.4	+	14	1479	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	R3HDM1_ENST00000409478.1_Missense_Mutation_p.R326Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R370Q|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R314Q|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R326Q	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	370							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCTCTCTTCGAAACCTGAAA	0.488													ENSG00000048991																																					0													116.0	127.0	123.0					2																	136396582		2203	4300	6503	SO:0001583	missense	0			-	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1109G>A	2.37:g.136396582G>A	ENSP00000264160:p.Arg370Gln		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.R370Q	ENST00000264160.4	37	c.1109	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827814	0.90955	.	.	ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.34859	1.42;1.34;1.43;1.35;1.34	5.46	4.58	0.56647	.	0.117332	0.64402	D	0.000010	T	0.57607	0.2065	M	0.72353	2.195	0.35549	D	0.803725	B;P;D;D	0.76494	0.266;0.929;0.999;0.999	B;B;D;D	0.72625	0.027;0.191;0.978;0.978	T	0.68040	-0.5514	10	0.40728	T	0.16	-9.8505	14.4044	0.67071	0.0714:0.0:0.9286:0.0	.	326;370;314;370	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	Q	326;326;370;326;314;370	ENSP00000386457:R326Q;ENSP00000264160:R370Q;ENSP00000331396:R326Q;ENSP00000386877:R314Q;ENSP00000387010:R370Q	ENSP00000264160:R370Q	R	+	2	0	R3HDM1	136113052	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	7.923000	0.87546	1.297000	0.44761	0.655000	0.94253	CGA	-	R3HDM1	-	NULL		0.488	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	0	0	1	29	29	95	0.00	1.03	G	NM_015361		136396582	+1	8	13	27	81	tier1	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	22.86	13.83	SNP	1.000	A	8	27
RPAP1	26015	genome.wustl.edu	37	15	41809883	41809883	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:41809883G>A	ENST00000304330.4	-	25	4155	c.4039C>T	c.(4039-4041)Cgg>Tgg	p.R1347W	RPAP1_ENST00000561603.1_Silent_p.S1094S	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1347						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGTGCTGCCGGAGACCCTGC	0.522													ENSG00000103932																																					0													120.0	125.0	123.0					15																	41809883		2203	4300	6503	SO:0001583	missense	0			-	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.4039C>T	15.37:g.41809883G>A	ENSP00000306123:p.Arg1347Trp		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_R_pol_II_AP1_C,pfam_R_pol_II_AP1_N,superfamily_ARM-type_fold	p.R1347W	ENST00000304330.4	37	c.4039	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197452	0.79015	.	.	ENSG00000103932	ENST00000304330	T	0.12672	2.66	5.64	3.6	0.41247	.	0.183793	0.42682	D	0.000665	T	0.25044	0.0608	L	0.46157	1.445	0.34910	D	0.747361	D	0.76494	0.999	P	0.58970	0.849	T	0.36986	-0.9725	10	0.87932	D	0	-13.697	12.9695	0.58505	0.0:0.0:0.6219:0.3781	.	1347	Q9BWH6	RPAP1_HUMAN	W	1347	ENSP00000306123:R1347W	ENSP00000306123:R1347W	R	-	1	2	RPAP1	39597175	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.564000	0.45931	1.364000	0.46038	0.655000	0.94253	CGG	-	RPAP1	-	NULL		0.522	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	0	0	0	39	39	62	0.00	0.00	G	NM_015540		41809883	-1	13	28	25	62	tier1	no_errors	ENST00000304330	ensembl	human	known	74_37	missense	34.21	31.11	SNP	1.000	A	13	25
ZFYVE9	9372	genome.wustl.edu	37	1	52704475	52704475	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:52704475C>T	ENST00000371591.1	+	3	1517	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ZFYVE9_ENST00000287727.3_Silent_p.F462F|ZFYVE9_ENST00000357206.2_Silent_p.F462F	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	462					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AATGTGATTTCTCCACTGTTA	0.398													ENSG00000157077																																					0													100.0	104.0	103.0					1																	52704475		2203	4299	6502	SO:0001819	synonymous_variant	0			-	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1386C>T	1.37:g.52704475C>T			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.F462	ENST00000371591.1	37	c.1386	CCDS563.1	1																																																																																			-	ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	0	0	0	75	75	40	0.00	0.00	C	NM_007324		52704475	+1	10	16	61	74	tier1	no_errors	ENST00000287727	ensembl	human	known	74_37	silent	14.08	17.78	SNP	1.000	T	10	61
MYO1C	4641	genome.wustl.edu	37	17	1370618	1370618	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:1370618C>G	ENST00000575158.1	-	31	3154	c.2978G>C	c.(2977-2979)gGc>gCc	p.G993A	MYO1C_ENST00000438665.2_Missense_Mutation_p.G1009A|MYO1C_ENST00000545534.2_Missense_Mutation_p.G1004A|MYO1C_ENST00000361007.2_Missense_Mutation_p.G993A|MYO1C_ENST00000359786.5_Missense_Mutation_p.G1028A			Q12965	MYO1E_HUMAN	myosin IC	181					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGCCGGGGCCCCCTGCAAA	0.647													ENSG00000197879																																					0													39.0	33.0	35.0					17																	1370618		2203	4300	6503	SO:0001583	missense	0			-	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2978G>C	17.37:g.1370618C>G	ENSP00000459174:p.Gly993Ala		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1028A	ENST00000575158.1	37	c.3083	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	C	6.832	0.522728	0.13066	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.32	5.32	0.75619	Myosin tail 2 (1);	0.051746	0.85682	D	0.000000	T	0.25121	0.0610	N	0.21373	0.66	0.44555	D	0.997512	B;B	0.11235	0.004;0.002	B;B	0.14578	0.009;0.011	T	0.07888	-1.0749	10	0.06494	T	0.89	.	18.155	0.89688	0.0:1.0:0.0:0.0	.	1028;1009	O00159;O00159-3	MYO1C_HUMAN;.	A	1028;1009;1009;993;1004	ENSP00000352834:G1028A;ENSP00000412197:G1009A;ENSP00000354283:G993A;ENSP00000437685:G1004A	ENSP00000352834:G1028A	G	-	2	0	MYO1C	1317368	0.994000	0.37717	0.998000	0.56505	0.884000	0.51177	3.429000	0.52800	2.769000	0.95229	0.563000	0.77884	GGC	-	MYO1C	-	pfam_Myosin_tail_2		0.647	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	0	0	0	49	49	16	0.00	0.00	C			1370618	-1	27	2	41	13	tier1	no_errors	ENST00000359786	ensembl	human	known	74_37	missense	39.71	12.50	SNP	0.997	G	27	41
CPT1B	1375	genome.wustl.edu	37	22	51011375	51011375	+	Silent	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:51011375G>T	ENST00000360719.2	-	11	1418	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	CPT1B_ENST00000457250.1_Silent_p.S393S|CPT1B_ENST00000434492.2_Silent_p.S224S|CPT1B_ENST00000312108.7_Silent_p.S427S|CPT1B_ENST00000405237.3_Silent_p.S427S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.S427S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	427			S -> C (in dbSNP:rs8142477).		carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGGGGTCATAGGAGTAGGATT	0.582													ENSG00000205560																									Esophageal Squamous(170;988 1933 25577 30295 48163)												0													124.0	118.0	120.0					22																	51011375		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1281C>A	22.37:g.51011375G>T			B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	pfam_Carn_acyl_trans	p.S427	ENST00000360719.2	37	c.1281	CCDS14098.1	22																																																																																			-	CPT1B	-	pfam_Carn_acyl_trans		0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	0	0	0	36	36	60	0.00	0.00	G	NM_152246		51011375	-1	11	17	29	43	tier1	no_errors	ENST00000312108	ensembl	human	known	74_37	silent	27.50	28.33	SNP	0.009	T	11	29
DOC2A	8448	genome.wustl.edu	37	16	30018553	30018553	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:30018553G>A	ENST00000350119.4	-	6	785	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	DOC2A_ENST00000564944.1_Missense_Mutation_p.R199C|DOC2A_ENST00000564979.1_Missense_Mutation_p.R199C	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	199					nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TTGAGGCGGCGGAGGGGCACG	0.637													ENSG00000149927																																					0													56.0	55.0	55.0					16																	30018553		2197	4300	6497	SO:0001583	missense	0			-	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.595C>T	16.37:g.30018553G>A	ENSP00000340017:p.Arg199Cys		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R199C	ENST00000350119.4	37	c.595	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984796	0.74474	.	.	ENSG00000149927	ENST00000350119	T	0.41065	1.01	5.44	3.3	0.37823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.52532	D	0.000072	T	0.52240	0.1722	L	0.59436	1.845	0.54753	D	0.999989	D	0.89917	1.0	D	0.65140	0.932	T	0.46219	-0.9207	10	0.39692	T	0.17	.	8.3921	0.32535	0.0854:0.0:0.7601:0.1545	.	199	Q14183	DOC2A_HUMAN	C	199	ENSP00000340017:R199C	ENSP00000340017:R199C	R	-	1	0	DOC2A	29926054	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.406000	0.44557	2.552000	0.86080	0.491000	0.48974	CGC	-	DOC2A	-	superfamily_C2_dom,smart_C2_dom,pirsf_Doc2		0.637	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	0	0	0	34	34	29	0.00	0.00	G	NM_003586		30018553	-1	8	11	48	44	tier1	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	14.29	20.00	SNP	1.000	A	8	48
SLC7A7	9056	genome.wustl.edu	37	14	23242839	23242839	+	Missense_Mutation	SNP	G	G	A	rs138506427		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:23242839G>A	ENST00000397532.3	-	10	2041	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	SLC7A7_ENST00000397528.4_Missense_Mutation_p.R506W|SLC7A7_ENST00000555702.1_Missense_Mutation_p.R506W|SLC7A7_ENST00000285850.7_Missense_Mutation_p.R506W|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R240W|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R506W			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	506					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTGGGATCCCGTTGCTTGGGC	0.478													ENSG00000155465	G|||	1	0.000199681	0.0	0.0	5008	,	,		19370	0.0		0.0	False		,,,				2504	0.001																0								G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	155.0	128.0	137.0		1516,1516,1516	3.6	0.4	14	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC7A7	NM_001126105.2,NM_001126106.2,NM_003982.3	101,101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	506/512,506/512,506/512	23242839	2,13004	2203	4300	6503	SO:0001583	missense	0			-	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1516C>T	14.37:g.23242839G>A	ENSP00000380666:p.Arg506Trp		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.R506W	ENST00000397532.3	37	c.1516	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746596	0.30955	2.27E-4	1.16E-4	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.91464	-2.74;-2.74;-2.74;-2.74;-2.74;-2.85	5.52	3.63	0.41609	.	4.168150	0.00424	N	0.000065	D	0.82898	0.5137	N	0.08118	0	0.26626	N	0.972558	P	0.44776	0.843	B	0.38712	0.28	T	0.75414	-0.3326	10	0.72032	D	0.01	.	8.8852	0.35398	0.0:0.1637:0.6663:0.17	.	506	Q9UM01	YLAT1_HUMAN	W	506;506;506;479;506;506;240	ENSP00000285850:R506W;ENSP00000451881:R506W;ENSP00000380666:R506W;ENSP00000380663:R506W;ENSP00000380662:R506W;ENSP00000452083:R240W	ENSP00000285850:R506W	R	-	1	2	SLC7A7	22312679	0.549000	0.26481	0.388000	0.26195	0.298000	0.27526	0.667000	0.25112	0.649000	0.30751	0.563000	0.77884	CGG	rs138506427	SLC7A7	-	NULL		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	0	0	0	34	34	66	0.00	0.00	G			23242839	-1	8	30	14	58	tier1	no_errors	ENST00000285850	ensembl	human	known	74_37	missense	36.36	34.09	SNP	0.743	A	8	14
SPTBN1	6711	genome.wustl.edu	37	2	54855380	54855380	+	Silent	SNP	C	C	T	rs551964268	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:54855380C>T	ENST00000356805.4	+	13	2072	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	SPTBN1_ENST00000333896.5_Silent_p.D584D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	597					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCGCAACAGACGGGGAAGGTA	0.512													ENSG00000115306	C|||	2	0.000399361	0.0015	0.0	5008	,	,		21573	0.0		0.0	False		,,,				2504	0.0																0													83.0	72.0	76.0					2																	54855380		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1791C>T	2.37:g.54855380C>T			B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D597	ENST00000356805.4	37	c.1791	CCDS33198.1	2																																																																																			-	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.512	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	0	0	0	41	41	81	0.00	0.00	C			54855380	+1	17	28	34	62	tier1	no_errors	ENST00000356805	ensembl	human	known	74_37	silent	33.33	31.11	SNP	0.846	T	17	34
STXBP1	6812	genome.wustl.edu	37	9	130439024	130439024	+	Missense_Mutation	SNP	G	G	A	rs150259704		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:130439024G>A	ENST00000373299.1	+	15	1466	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I	STXBP1_ENST00000373302.3_Missense_Mutation_p.V451I|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	451					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGTGCCCATCGTCACCGATGT	0.562													ENSG00000136854	g|||	1	0.000199681	0.0	0.0	5008	,	,		18554	0.0		0.001	False		,,,				2504	0.0																0								G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	83.0	62.0	70.0		1351,1351	4.2	1.0	9	dbSNP_134	70	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	STXBP1	NM_001032221.3,NM_003165.3	29,29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign,benign	451/595,451/604	130439024	5,13001	2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1351G>A	9.37:g.130439024G>A	ENSP00000362396:p.Val451Ile		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.V451I	ENST00000373299.1	37	c.1351	CCDS35146.1	9	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	7.811	0.715787	0.15306	2.27E-4	4.65E-4	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.76448	-1.02;-1.02	5.2	4.18	0.49190	.	0.098835	0.64402	D	0.000003	T	0.49236	0.1545	N	0.10707	0.03	0.33498	D	0.589592	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.003	T	0.51980	-0.8636	10	0.05721	T	0.95	-5.1459	4.6912	0.12781	0.2639:0.0:0.7361:0.0	.	451;451	P61764;P61764-2	STXB1_HUMAN;.	I	405;451;283;451	ENSP00000362399:V451I;ENSP00000362396:V451I	ENSP00000362396:V451I	V	+	1	0	STXBP1	129478845	1.000000	0.71417	0.990000	0.47175	0.659000	0.38960	4.222000	0.58580	2.404000	0.81709	0.561000	0.74099	GTC	rs150259704	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.562	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	0	0	0	10	10	34	0.00	0.00	G	NM_003165		130439024	+1	4	7	11	39	tier1	no_errors	ENST00000373299	ensembl	human	known	74_37	missense	26.67	15.22	SNP	0.996	A	4	11
CNDP2	55748	genome.wustl.edu	37	18	72187269	72187269	+	Missense_Mutation	SNP	C	C	T	rs559463515		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr18:72187269C>T	ENST00000324262.4	+	12	1710	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	CNDP2_ENST00000324301.8_Missense_Mutation_p.A381V|CNDP2_ENST00000579847.1_Missense_Mutation_p.A465V	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	465					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.A465V(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATGCTGGCCGCGTACCTGTAT	0.537													ENSG00000133313																																					1	Substitution - Missense(1)	ovary(1)											119.0	94.0	102.0					18																	72187269		2203	4300	6503	SO:0001583	missense	0			-	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1394C>T	18.37:g.72187269C>T	ENSP00000325548:p.Ala465Val		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.A465V	ENST00000324262.4	37	c.1394	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188860	0.57909	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.048840	0.85682	D	0.000000	T	0.48484	0.1502	M	0.85462	2.755	0.80722	D	1	P;P	0.46064	0.523;0.872	B;B	0.29663	0.076;0.105	T	0.61207	-0.7109	10	0.40728	T	0.16	-24.1893	17.4447	0.87574	0.0:1.0:0.0:0.0	.	381;465	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	V	465;381	ENSP00000325548:A465V;ENSP00000325756:A381V	ENSP00000325548:A465V	A	+	2	0	CNDP2	70338249	1.000000	0.71417	0.275000	0.24674	0.244000	0.25665	7.329000	0.79170	2.548000	0.85928	0.650000	0.86243	GCG	-	CNDP2	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1		0.537	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	0	0	0	46	46	57	0.00	0.00	C	NM_018235		72187269	+1	11	11	40	31	tier1	no_errors	ENST00000324262	ensembl	human	known	74_37	missense	21.57	26.19	SNP	0.998	T	11	40
MTFR1	9650	genome.wustl.edu	37	8	66594683	66594683	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:66594683T>G	ENST00000262146.4	+	3	288	c.162T>G	c.(160-162)ttT>ttG	p.F54L	MTFR1_ENST00000458689.2_Intron|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	54					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GAGTTCAGTTTCAGGtattat	0.299													ENSG00000066855																																					0													59.0	56.0	57.0					8																	66594683		2203	4300	6503	SO:0001583	missense	0			-		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.162T>G	8.37:g.66594683T>G	ENSP00000262146:p.Phe54Leu		E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.F54L	ENST00000262146.4	37	c.162	CCDS6182.1	8	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126917	0.77549	.	.	ENSG00000066855	ENST00000518609;ENST00000262146	T	0.72051	-0.62	5.63	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.90814	3.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84958	0.0875	10	0.72032	D	0.01	-15.1811	7.9686	0.30113	0.0:0.1606:0.0:0.8394	.	54;54;54	B4E3G8;E5RJS5;Q15390	.;.;MTFR1_HUMAN	L	54	ENSP00000262146:F54L	ENSP00000262146:F54L	F	+	3	2	MTFR1	66757237	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.488000	0.35551	0.964000	0.38108	0.459000	0.35465	TTT	-	MTFR1	-	pfam_Mtfr1		0.299	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	0	0	0	141	141	31	0.00	0.00	T	NM_014637		66594683	+1	40	20	110	37	tier1	no_errors	ENST00000262146	ensembl	human	known	74_37	missense	26.67	34.48	SNP	1.000	G	40	110
MSL2	55167	genome.wustl.edu	37	3	135870189	135870189	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:135870189C>T	ENST00000309993.2	-	2	2266	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	MSL2_ENST00000434835.2_Missense_Mutation_p.A438T	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	512					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						ACGGCAAATGCCTCCAGCTTC	0.522													ENSG00000174579																																					0													65.0	56.0	59.0					3																	135870189		2203	4300	6503	SO:0001583	missense	0			-	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1534G>A	3.37:g.135870189C>T	ENSP00000311827:p.Ala512Thr		B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	pfscan_Znf_RING	p.A512T	ENST00000309993.2	37	c.1534	CCDS33861.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231931	0.79688	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	M	0.68317	2.08	0.80722	D	1	D	0.63046	0.992	P	0.57620	0.824	T	0.70626	-0.4820	9	0.33141	T	0.24	-6.3174	19.3033	0.94151	0.0:1.0:0.0:0.0	.	512	Q9HCI7	MSL2_HUMAN	T	512;438	.	ENSP00000311827:A512T	A	-	1	0	MSL2	137352879	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.816000	0.86201	2.809000	0.96659	0.467000	0.42956	GCA	-	MSL2	-	NULL		0.522	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	0	0	0	31	31	48	0.00	0.00	C	NM_018133		135870189	-1	5	16	16	52	tier1	no_errors	ENST00000309993	ensembl	human	known	74_37	missense	23.81	23.19	SNP	1.000	T	5	16
PPP1R3C	5507	genome.wustl.edu	37	10	93390509	93390509	+	Silent	SNP	G	G	A	rs148420815	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:93390509G>A	ENST00000238994.5	-	2	213	c.129C>T	c.(127-129)taC>taT	p.Y43Y		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GAAATTCATCGTACGGGCCCA	0.448													ENSG00000119938	G|||	2	0.000399361	0.0015	0.0	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.0																0								G		3,4403	6.2+/-15.9	0,3,2200	106.0	109.0	108.0		129	-8.2	0.1	10	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	PPP1R3C	NM_005398.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		43/318	93390509	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			-	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.129C>T	10.37:g.93390509G>A				Silent	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.Y43	ENST00000238994.5	37	c.129	CCDS7416.1	10																																																																																			rs148420815	PPP1R3C	-	pirsf_Pase-1_Glycogen_target-su_met		0.448	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	HGNC	protein_coding	OTTHUMT00000049372.1	0	0	0	49	49	80	0.00	0.00	G	NM_005398		93390509	-1	6	14	38	68	tier1	no_errors	ENST00000238994	ensembl	human	known	74_37	silent	13.64	17.07	SNP	0.032	A	6	38
RALGAPA2	57186	genome.wustl.edu	37	20	20563753	20563753	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:20563753G>A	ENST00000202677.7	-	20	2655	c.2648C>T	c.(2647-2649)gCt>gTt	p.A883V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	883					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATCAGCATCAGCCACAACATC	0.483													ENSG00000188559																																					0													86.0	85.0	85.0					20																	20563753		1983	4175	6158	SO:0001583	missense	0			-	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2648C>T	20.37:g.20563753G>A	ENSP00000202677:p.Ala883Val		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.A883V	ENST00000202677.7	37	c.2648	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	G	10.31	1.316148	0.23908	.	.	ENSG00000188559	ENST00000202677	T	0.69175	-0.38	5.8	2.48	0.30137	.	0.571981	0.19556	N	0.111447	T	0.31327	0.0793	N	0.03115	-0.41	0.31987	N	0.605077	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.37478	-0.9704	10	0.02654	T	1	.	3.9649	0.09426	0.2813:0.3509:0.3678:0.0	.	721;883	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	V	883	ENSP00000202677:A883V	ENSP00000202677:A883V	A	-	2	0	RALGAPA2	20511753	0.006000	0.16342	1.000000	0.80357	0.634000	0.38068	0.316000	0.19469	1.459000	0.47892	0.655000	0.94253	GCT	-	RALGAPA2	-	NULL		0.483	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	0	0	0	49	49	57	0.00	0.00	G	NM_020343		20563753	-1	26	25	33	54	tier1	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	44.07	31.25	SNP	0.998	A	26	33
MAST2	23139	genome.wustl.edu	37	1	46472045	46472045	+	Missense_Mutation	SNP	C	C	T	rs372615184		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:46472045C>T	ENST00000361297.2	+	8	1163	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	MAST2_ENST00000372009.2_Missense_Mutation_p.R294W	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCAGCCATGCGGCCTCGCTC	0.557													ENSG00000086015																																					0								C	TRP/ARG	0,4214		0,0,2107	86.0	90.0	89.0		880	3.4	1.0	1		89	1,8471		0,1,4235	no	missense	MAST2	NM_015112.2	101	0,1,6342	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	294/1799	46472045	1,12685	2107	4236	6343	SO:0001583	missense	0			-	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.880C>T	1.37:g.46472045C>T	ENSP00000354671:p.Arg294Trp			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R294W	ENST00000361297.2	37	c.880	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883791	0.51908	0.0	1.18E-4	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000456625;ENST00000372008	T;T;T	0.48522	0.81;0.81;0.81	5.49	3.41	0.39046	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.92122	3.275	0.20703	N	0.999867	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.975;1.0;1.0	D;D;D;B;D;D	0.97110	0.998;0.992;0.998;0.405;1.0;1.0	T	0.72427	-0.4297	10	0.87932	D	0	-17.6884	16.0807	0.81003	0.319:0.681:0.0:0.0	.	2;294;2;158;294;294	B3KU51;Q6P0Q8-2;E7EWL1;E9PBM6;E7ERL6;Q6P0Q8	.;.;.;.;.;MAST2_HUMAN	W	294;294;2;158;179	ENSP00000354671:R294W;ENSP00000361079:R294W;ENSP00000361078:R179W	ENSP00000354671:R294W	R	+	1	2	MAST2	46244632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.010000	0.29898	1.278000	0.44430	0.563000	0.77884	CGG	-	MAST2	-	pfam_MA_Ser/Thr_Kinase_dom		0.557	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	0	0	0	25	25	29	0.00	0.00	C	NM_015112		46472045	+1	8	10	12	19	tier1	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	40.00	34.48	SNP	0.999	T	8	12
UBA6	55236	genome.wustl.edu	37	4	68536256	68536256	+	Missense_Mutation	SNP	C	C	T	rs373643001		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:68536256C>T	ENST00000322244.5	-	8	660	c.601G>A	c.(601-603)Gat>Aat	p.D201N	UBA6_ENST00000420827.2_Missense_Mutation_p.D201N	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	201					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCAAATTCATCACCGAAATCA	0.264													ENSG00000033178																																					0								C	ASN/ASP	0,4404		0,0,2202	91.0	94.0	93.0		601	5.2	1.0	4		93	1,8587	1.2+/-3.3	0,1,4293	no	missense	UBA6	NM_018227.5	23	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	201/1053	68536256	1,12991	2202	4294	6496	SO:0001583	missense	0			-	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.601G>A	4.37:g.68536256C>T	ENSP00000313454:p.Asp201Asn		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_D_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.D201N	ENST00000322244.5	37	c.601	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086395	0.55861	0.0	1.16E-4	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.28895	1.59;1.59	5.16	5.16	0.70880	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.170278	0.53938	D	0.000045	T	0.25717	0.0626	L	0.39633	1.23	0.53005	D	0.999965	B;B;B	0.16603	0.003;0.013;0.018	B;B;B	0.18871	0.023;0.022;0.014	T	0.03423	-1.1038	10	0.33141	T	0.24	-17.102	12.0454	0.53477	0.0:0.9195:0.0:0.0805	.	201;201;201	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	N	201	ENSP00000313454:D201N;ENSP00000399234:D201N	ENSP00000313454:D201N	D	-	1	0	UBA6	68218851	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.228000	0.65310	2.562000	0.86427	0.484000	0.47621	GAT	-	UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1		0.264	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	0	0	0	77	77	49	0.00	0.00	C	NM_018227		68536256	-1	26	29	60	57	tier1	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	30.23	33.72	SNP	1.000	T	26	60
PCDHGC5	56097	genome.wustl.edu	37	5	140869033	140869033	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140869033T>C	ENST00000252087.1	+	1	226	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTATTTTTCCCTGAGCTT	0.552													ENSG00000240764																																					0													94.0	97.0	96.0					5																	140869033		2203	4300	6503	SO:0001583	missense	0			-	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.226T>C	5.37:g.140869033T>C	ENSP00000252087:p.Ser76Pro		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S76P	ENST00000252087.1	37	c.226	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	T	8.817	0.936554	0.18206	.	.	ENSG00000240764	ENST00000252087	T	0.28895	1.59	5.53	4.42	0.53409	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.150415	0.31472	N	0.007584	T	0.45875	0.1364	M	0.80616	2.505	0.32431	N	0.548042	P;P	0.52316	0.89;0.952	P;P	0.54965	0.527;0.765	T	0.61417	-0.7067	10	0.62326	D	0.03	.	6.5436	0.22394	0.0:0.094:0.3503:0.5557	.	76;76	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	P	76	ENSP00000252087:S76P	ENSP00000252087:S76P	S	+	1	0	PCDHGC5	140849217	0.017000	0.18338	1.000000	0.80357	0.056000	0.15407	0.296000	0.19083	2.087000	0.62958	0.533000	0.62120	TCC	-	PCDHGC5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.552	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	0	0	0	44	44	56	0.00	0.00	T	NM_018929		140869033	+1	21	35	38	84	tier1	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	35.59	29.41	SNP	1.000	C	21	38
KIF17	57576	genome.wustl.edu	37	1	21014288	21014288	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:21014288C>T	ENST00000247986.2	-	8	1841	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.D411N|KIF17_ENST00000400463.3_Missense_Mutation_p.D511N			Q9P2E2	KIF17_HUMAN	kinesin family member 17	511					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTGGAGACATCGTCACTGGGC	0.552													ENSG00000117245																																					0													88.0	83.0	84.0					1																	21014288		2203	4300	6503	SO:0001583	missense	0			-	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1531G>A	1.37:g.21014288C>T	ENSP00000247986:p.Asp511Asn		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D511N	ENST00000247986.2	37	c.1531	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720793	0.15372	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71579	-0.58;-0.46;-0.46	5.04	-0.415	0.12355	.	1.268100	0.06187	U	0.680688	T	0.50990	0.1648	L	0.39898	1.24	0.09310	N	1	B;B	0.33413	0.411;0.378	B;B	0.21917	0.037;0.024	T	0.23976	-1.0173	10	0.19590	T	0.45	.	1.369	0.02207	0.2948:0.3934:0.1435:0.1684	.	511;511	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	N	411;511;511	ENSP00000364184:D411N;ENSP00000383311:D511N;ENSP00000247986:D511N	ENSP00000247986:D511N	D	-	1	0	KIF17	20886875	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.066000	0.14489	-0.227000	0.09884	-0.229000	0.12294	GAT	-	KIF17	-	NULL		0.552	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	0	0	0	17	17	75	0.00	0.00	C	NM_020816		21014288	-1	9	17	23	42	tier1	no_errors	ENST00000247986	ensembl	human	known	74_37	missense	28.12	28.81	SNP	0.000	T	9	23
BMP1	649	genome.wustl.edu	37	8	22020665	22020665	+	5'Flank	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:22020665G>A	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000520605.1_Missense_Mutation_p.A39T|SFTPC_ENST00000524255.1_Missense_Mutation_p.A39T|SFTPC_ENST00000437090.2_Missense_Mutation_p.A92T|SFTPC_ENST00000522109.1_Missense_Mutation_p.A92T|SFTPC_ENST00000521315.1_Missense_Mutation_p.A92T|SFTPC_ENST00000318561.3_Missense_Mutation_p.A92T|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000354870.5_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGTTACCACTGCCACCTTCTC	0.617													ENSG00000168484																																					0													83.0	94.0	90.0					8																	22020665		2122	4236	6358	SO:0001631	upstream_gene_variant	0			-		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020665G>A	Exception_encountered		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom	p.A92T	ENST00000306385.5	37	c.274	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373819	0.82573	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	4.68	3.73	0.42828	Surfactant protein C, N-terminal propeptide (1);	0.139283	0.33457	N	0.004891	D	0.95582	0.8564	L	0.60455	1.87	0.39284	D	0.964616	P;D;D;D;D	0.76494	0.956;0.964;0.964;0.987;0.999	P;P;P;P;D	0.85130	0.722;0.817;0.762;0.817;0.997	D	0.94736	0.7914	10	0.51188	T	0.08	-3.5113	9.5489	0.39297	0.0:0.0:0.7905:0.2095	.	92;92;92;92;92	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	T	92;92;92;39;92;39;39;92	ENSP00000316152:A92T;ENSP00000430410:A92T;ENSP00000407931:A92T;ENSP00000430266:A39T;ENSP00000429496:A92T;ENSP00000429552:A39T;ENSP00000429619:A39T;ENSP00000428817:A92T	ENSP00000316152:A92T	A	+	1	0	SFTPC	22076610	0.977000	0.34250	0.999000	0.59377	0.615000	0.37417	2.770000	0.47662	2.574000	0.86865	0.655000	0.94253	GCC	-	SFTPC	-	pfam_Surfactant_protein_propep,smart_Pulm_surfact_AP		0.617	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPC	HGNC	protein_coding	OTTHUMT00000214995.2	0	0	0	33	33	50	0.00	0.00	G	NM_006132		22020665	+1	11	17	30	25	tier1	no_errors	ENST00000318561	ensembl	human	known	74_37	missense	26.83	40.48	SNP	0.993	A	11	30
HMCN1	83872	genome.wustl.edu	37	1	186056382	186056382	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:186056382T>C	ENST00000271588.4	+	59	9309	c.9080T>C	c.(9079-9081)gTa>gCa	p.V3027A	HMCN1_ENST00000367492.2_Missense_Mutation_p.V3027A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3027	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CGGGCCAAGGTATCAGATGGT	0.383													ENSG00000143341																																					0													148.0	141.0	144.0					1																	186056382		2203	4300	6503	SO:0001583	missense	0			-	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9080T>C	1.37:g.186056382T>C	ENSP00000271588:p.Val3027Ala		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V3027A	ENST00000271588.4	37	c.9080	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059087	0.36373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.28666	1.6;1.6	5.63	3.25	0.37280	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.498297	0.23856	N	0.043883	T	0.15089	0.0364	N	0.05467	-0.045	0.29798	N	0.832667	B	0.28584	0.216	B	0.37198	0.243	T	0.34079	-0.9843	10	0.08179	T	0.78	.	7.0709	0.25177	0.1301:0.0741:0.0:0.7958	.	3027	Q96RW7	HMCN1_HUMAN	A	3027	ENSP00000271588:V3027A;ENSP00000356462:V3027A	ENSP00000271588:V3027A	V	+	2	0	HMCN1	184323005	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	3.646000	0.54396	0.375000	0.24679	0.533000	0.62120	GTA	-	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	0	0	0	39	39	48	0.00	0.00	T	NM_031935		186056382	+1	34	33	56	51	tier1	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	37.78	39.29	SNP	1.000	C	34	56
ENC1	8507	genome.wustl.edu	37	5	73930729	73930729	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:73930729G>A	ENST00000302351.4	-	2	2712	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	ENC1_ENST00000510316.1_Missense_Mutation_p.R455C|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.R528C	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	528				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R528C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CAGCTCATGCGCTTTGCTGTC	0.478													ENSG00000171617																																					1	Substitution - Missense(1)	large_intestine(1)											97.0	91.0	93.0					5																	73930729		2203	4300	6503	SO:0001583	missense	0			-	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1582C>T	5.37:g.73930729G>A	ENSP00000306356:p.Arg528Cys		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R528C	ENST00000302351.4	37	c.1582	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659426	0.47467	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.85411	-1.98;-1.98;-1.98	5.93	5.03	0.67393	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89598	0.6761	M	0.91249	3.19	0.80722	D	1	P	0.50710	0.938	P	0.45829	0.494	D	0.91804	0.5454	10	0.72032	D	0.01	.	14.8976	0.70654	0.0:0.0:0.7439:0.2561	.	528	O14682	ENC1_HUMAN	C	528;455;528	ENSP00000306356:R528C;ENSP00000423804:R455C;ENSP00000446289:R528C	ENSP00000306356:R528C	R	-	1	0	ENC1	73966485	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.001000	0.57046	2.815000	0.96918	0.561000	0.74099	CGC	-	ENC1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.478	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	0	0	0	33	33	41	0.00	0.00	G	NM_003633		73930729	-1	10	10	27	51	tier1	no_errors	ENST00000302351	ensembl	human	known	74_37	missense	27.03	16.13	SNP	1.000	A	10	27
MXI1	4601	genome.wustl.edu	37	10	112045982	112045982	+	3'UTR	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:112045982G>A	ENST00000239007.7	+	0	2142				MXI1_ENST00000332674.5_3'UTR|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTAAAGATTTGCTTCCATTTT	0.353													ENSG00000119950																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.*1237G>A	10.37:g.112045982G>A			B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	R	SNP	-	NULL	ENST00000239007.7	37	NULL	CCDS7564.2	10																																																																																			-	MXI1	-	-		0.353	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1	0	0	0	60	60	51	0.00	0.00	G	NM_130439		112045982	+1	21	26	41	49	tier1	no_errors	ENST00000485566	ensembl	human	known	74_37	rna	33.87	34.67	SNP	0.997	A	21	41
SARS	6301	genome.wustl.edu	37	1	109777945	109777945	+	Silent	SNP	G	G	A	rs376318089	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:109777945G>A	ENST00000234677.2	+	7	936	c.861G>A	c.(859-861)ccG>ccA	p.P287P	SARS_ENST00000369923.4_Silent_p.P287P	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	287					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GGCTCCGGCCGGAGGACCTGC	0.587													ENSG00000031698	G|||	3	0.000599042	0.0	0.0	5008	,	,		19362	0.0		0.0	False		,,,				2504	0.0031																0								G		2,4404	4.2+/-10.8	0,2,2201	90.0	81.0	84.0		861	-11.1	0.6	1		84	0,8600		0,0,4300	no	coding-synonymous	SARS	NM_006513.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		287/515	109777945	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.861G>A	1.37:g.109777945G>A			B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	pfam_aa-tR-synt_IIb_cons-dom,pfam_Ser-tR-synth_1_N,superfamily_tR-bd_arm,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,prints_Ser-tR-ligase_type_1,tigrfam_Ser-tR-ligase_type_1	p.P287	ENST00000234677.2	37	c.861	CCDS795.1	1																																																																																			-	SARS	-	pfam_aa-tR-synt_IIb_cons-dom,pirsf_Ser-tR-ligase_type_1,pfscan_aa-tR-synth_II,tigrfam_Ser-tR-ligase_type_1		0.587	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	0	0	0	28	28	23	0.00	0.00	G	NM_006513		109777945	+1	11	12	14	11	tier1	no_errors	ENST00000369923	ensembl	human	known	74_37	silent	44.00	52.17	SNP	0.205	A	11	14
CUL1	8454	genome.wustl.edu	37	7	148489822	148489822	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:148489822C>T	ENST00000325222.4	+	17	2090	c.1811C>T	c.(1810-1812)tCg>tTg	p.S604L	CUL1_ENST00000409469.1_Missense_Mutation_p.S604L|CUL1_ENST00000602748.1_Missense_Mutation_p.S604L	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	604					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCAAAGGCGTCGACATTCCAG	0.423													ENSG00000055130																																					0													76.0	67.0	70.0					7																	148489822		2203	4300	6503	SO:0001583	missense	0			-	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1811C>T	7.37:g.148489822C>T	ENSP00000326804:p.Ser604Leu		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S604L	ENST00000325222.4	37	c.1811	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	.	36	5.608656	0.96626	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.77620	-1.11;-1.11	5.37	5.37	0.77165	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.93838	0.7134	10	0.87932	D	0	-43.0752	19.1143	0.93331	0.0:1.0:0.0:0.0	.	531;604	E7EWR0;Q13616	.;CUL1_HUMAN	L	604;604;562;531	ENSP00000387160:S604L;ENSP00000326804:S604L	ENSP00000326804:S604L	S	+	2	0	CUL1	148120755	1.000000	0.71417	0.062000	0.19696	0.349000	0.29174	7.513000	0.81739	2.519000	0.84933	0.655000	0.94253	TCG	-	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology		0.423	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	0	0	0	29	29	28	0.00	0.00	C	NM_003592		148489822	+1	9	9	29	15	tier1	no_errors	ENST00000325222	ensembl	human	known	74_37	missense	23.68	37.50	SNP	1.000	T	9	29
SETD8	387893	genome.wustl.edu	37	12	123889536	123889536	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123889536G>A	ENST00000402868.3	+	7	1189	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SETD8_ENST00000330479.4_Missense_Mutation_p.A255T			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	296					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GATCACCGACGCCAAGAAACG	0.547													ENSG00000183955																																					0													62.0	57.0	59.0					12																	123889536		2203	4298	6501	SO:0001583	missense	0			-	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.763G>A	12.37:g.123889536G>A	ENSP00000384629:p.Ala255Thr		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.A255T	ENST00000402868.3	37	c.763	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.327649	0.95733	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.85088	-1.94;-1.94;-1.94	5.16	5.16	0.70880	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	M	0.88310	2.945	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.66497	0.944;0.907	D	0.94406	0.7627	10	0.87932	D	0	-23.8967	19.0249	0.92929	0.0:0.0:1.0:0.0	.	296;255	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	T	255;255;246	ENSP00000384629:A255T;ENSP00000332995:A255T;ENSP00000413811:A246T	ENSP00000332995:A255T	A	+	1	0	SETD8	122455489	1.000000	0.71417	0.978000	0.43139	0.809000	0.45718	9.813000	0.99286	2.573000	0.86826	0.655000	0.94253	GCC	-	SETD8	-	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom		0.547	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	0	0	1	35	35	81	0.00	1.22	G	NM_020382		123889536	+1	13	5	21	38	tier1	no_errors	ENST00000330479	ensembl	human	known	74_37	missense	38.24	11.63	SNP	1.000	A	13	21
ARID5A	10865	genome.wustl.edu	37	2	97217649	97217649	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:97217649G>A	ENST00000357485.3	+	7	1462	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	ARID5A_ENST00000454558.2_Missense_Mutation_p.V394M	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	462					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGCGGGCCGTGTCTCCCTT	0.677													ENSG00000196843																																					0													26.0	27.0	26.0					2																	97217649		2202	4299	6501	SO:0001583	missense	0			-	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1384G>A	2.37:g.97217649G>A	ENSP00000350078:p.Val462Met		Q6NX37	Missense_Mutation	SNP	pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd	p.V462M	ENST00000357485.3	37	c.1384	CCDS33251.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983249	0.74474	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.77229	-1.08	5.31	5.31	0.75309	.	0.000000	0.45361	D	0.000379	D	0.86912	0.6047	M	0.69823	2.125	0.41786	D	0.989847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	D	0.88043	0.2782	10	0.72032	D	0.01	-27.3544	14.8351	0.70177	0.0:0.0:1.0:0.0	.	462;394;462	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	M	462;462;394	ENSP00000350078:V462M	ENSP00000350078:V462M	V	+	1	0	ARID5A	96581376	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	4.128000	0.57951	2.641000	0.89580	0.650000	0.86243	GTG	-	ARID5A	-	NULL		0.677	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2	0	0	0	14	14	38	0.00	0.00	G	NM_212481		97217649	+1	8	13	6	21	tier1	no_errors	ENST00000357485	ensembl	human	known	74_37	missense	57.14	36.11	SNP	0.997	A	8	6
PTPRK	5796	genome.wustl.edu	37	6	128306968	128306968	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:128306968G>A	ENST00000368215.3	-	22	3145	c.3146C>T	c.(3145-3147)cCt>cTt	p.P1049L	PTPRK_ENST00000368226.4_Missense_Mutation_p.P1050L|PTPRK_ENST00000368207.3_Missense_Mutation_p.P1082L|PTPRK_ENST00000368227.3_Missense_Mutation_p.P1067L|PTPRK_ENST00000532331.1_Missense_Mutation_p.P1072L|PTPRK_ENST00000368213.5_Missense_Mutation_p.P1056L|PTPRK_ENST00000368210.3_Missense_Mutation_p.P1068L			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1049	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCCATGGTCAGGCCAGCCCGT	0.483													ENSG00000152894																																					0													142.0	136.0	138.0					6																	128306968		2203	4300	6503	SO:0001583	missense	0			-	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3146C>T	6.37:g.128306968G>A	ENSP00000357198:p.Pro1049Leu		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P1067L	ENST00000368215.3	37	c.3200		6	.	.	.	.	.	.	.	.	.	.	G	32	5.188999	0.94923	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.97	5.97	0.96955	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.997;0.996	T	0.82232	-0.0559	10	0.87932	D	0	.	20.4251	0.99070	0.0:0.0:1.0:0.0	.	1072;1056;1049;1050	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	L	1050;1067;1072;1056;1068;1049;1082	ENSP00000357209:P1050L;ENSP00000357210:P1067L;ENSP00000432973:P1072L;ENSP00000357196:P1056L;ENSP00000357193:P1068L;ENSP00000357198:P1049L;ENSP00000357190:P1082L	ENSP00000357190:P1082L	P	-	2	0	PTPRK	128348661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.837000	0.99465	2.829000	0.97493	0.650000	0.86243	CCT	-	PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.483	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	0	0	0	56	56	92	0.00	0.00	G			128306968	-1	13	23	54	77	tier1	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	19.40	23.00	SNP	1.000	A	13	54
PNPLA8	50640	genome.wustl.edu	37	7	108154649	108154649	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:108154649C>A	ENST00000422087.1	-	5	1551	c.1145G>T	c.(1144-1146)aGg>aTg	p.R382M	PNPLA8_ENST00000426128.2_Missense_Mutation_p.R382M|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R282M|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R382M|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R382M|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R382M	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	382					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTTCAACCCTAGTAATGCA	0.378													ENSG00000135241																																					0													252.0	276.0	268.0					7																	108154649		2203	4300	6503	SO:0001583	missense	0			-	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1145G>T	7.37:g.108154649C>A	ENSP00000410804:p.Arg382Met		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.R382M	ENST00000422087.1	37	c.1145	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185079	0.78677	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.50224	-0.8853	10	0.72032	D	0.01	.	18.503	0.90888	0.0:1.0:0.0:0.0	.	382	Q9NP80	PLPL8_HUMAN	M	382;382;382;382;282;382;282	ENSP00000394988:R382M;ENSP00000257694:R382M;ENSP00000373380:R382M;ENSP00000410804:R382M;ENSP00000387789:R282M;ENSP00000406779:R382M;ENSP00000402274:R282M	ENSP00000257694:R382M	R	-	2	0	PNPLA8	107941885	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.270000	0.78493	2.374000	0.81015	0.591000	0.81541	AGG	-	PNPLA8	-	superfamily_ARM-type_fold		0.378	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	0	0	0	72	72	61	0.00	0.00	C	NM_015723		108154649	-1	24	39	51	53	tier1	no_errors	ENST00000257694	ensembl	human	known	74_37	missense	32.00	41.94	SNP	1.000	A	24	51
H2AFY	9555	genome.wustl.edu	37	5	134724634	134724634	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:134724634G>A	ENST00000511689.1	-	2	743	c.150C>T	c.(148-150)gcC>gcT	p.A50A	H2AFY_ENST00000510038.1_Silent_p.A50A|H2AFY_ENST00000312469.4_Silent_p.A50A|H2AFY_ENST00000423969.2_Silent_p.A50A|H2AFY_ENST00000304332.4_Silent_p.A50A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	50	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGACGGCGGCCATGTACA	0.542													ENSG00000113648																																					0													102.0	91.0	95.0					5																	134724634		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.150C>T	5.37:g.134724634G>A			O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom	p.A50	ENST00000511689.1	37	c.150	CCDS4185.1	5																																																																																			-	H2AFY	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A		0.542	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	0	0	0	51	51	76	0.00	0.00	G	NM_004893		134724634	-1	21	23	47	50	tier1	no_errors	ENST00000511689	ensembl	human	known	74_37	silent	30.88	31.51	SNP	0.845	A	21	47
ATP11A	23250	genome.wustl.edu	37	13	113464952	113464952	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:113464952G>A	ENST00000487903.1	+	5	441	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	ATP11A_ENST00000375630.2_Missense_Mutation_p.R118Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.R118Q|ATP11A_ENST00000375645.3_Missense_Mutation_p.R118Q			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	118					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				GACTGGCTTCGACATAAAGCA	0.488													ENSG00000068650																																					0													127.0	117.0	121.0					13																	113464952		2203	4300	6503	SO:0001583	missense	0			-	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.353G>A	13.37:g.113464952G>A	ENSP00000420387:p.Arg118Gln		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R118Q	ENST00000487903.1	37	c.353	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.263119|5.263119	0.95399|0.95399	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.85484	.|-1.99;-1.99;-1.99;-1.99	4.83|4.83	4.83|4.83	0.62350|0.62350	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94742|0.94742	0.8303|0.8303	H|H	0.95645|0.95645	3.7|3.7	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.96322|0.96322	0.9237|0.9237	5|10	.|0.87932	.|D	.|0	.|.	17.0821|17.0821	0.86601|0.86601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|118;118	.|E9PEJ6;P98196	.|.;AT11A_HUMAN	N|Q	93|118	.|ENSP00000420387:R118Q;ENSP00000364781:R118Q;ENSP00000364796:R118Q;ENSP00000283558:R118Q	.|ENSP00000283558:R118Q	D|R	+|+	1|2	0|0	ATP11A|ATP11A	112512953|112512953	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.948000|0.948000	0.59901|0.59901	8.312000|8.312000	0.89976|0.89976	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	GAC|CGA	-	ATP11A	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase		0.488	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	0	0	0	42	42	37	0.00	0.00	G	NM_015205		113464952	+1	12	9	24	30	tier1	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	33.33	23.08	SNP	1.000	A	12	24
TIAM1	7074	genome.wustl.edu	37	21	32932376	32932376	+	5'Flank	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr21:32932376C>T	ENST00000286827.3	-	0	0				TIAM1_ENST00000469412.1_5'Flank|AP000251.3_ENST00000433071.2_RNA	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGCCTCGAGCGAAACCTTTC	0.532													ENSG00000237594																																					0																																										SO:0001631	upstream_gene_variant	0			-		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869		21.37:g.32932376C>T	Exception_encountered		B7ZLR6|F5GZ53|Q17RT7	R	SNP	-	NULL	ENST00000286827.3	37	NULL	CCDS13609.1	21																																																																																			-	AP000251.3	-	-		0.532	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC150051	Clone_based_vega_gene	protein_coding	OTTHUMT00000192552.1	0	0	0	47	47	56	0.00	0.00	C	NM_003253		32932376	+1	7	14	30	60	tier1	no_errors	ENST00000433071	ensembl	human	known	74_37	rna	18.42	18.92	SNP	0.000	T	7	30
ARHGAP11B	89839	genome.wustl.edu	37	15	31042691	31042691	+	3'UTR	SNP	A	A	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:31042691A>C	ENST00000602616.2	+	0	433					NR_038253.1|NR_038254.1|NR_038255.1		Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTTGATATGGACGCAGTCCTG	0.552													ENSG00000187951																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000602616.2:c.*430A>C	15.37:g.31042691A>C				R	SNP	-	NULL	ENST00000602616.2	37	NULL		15																																																																																			-	ARHGAP11B	-	-		0.552	ARHGAP11B-007	KNOWN	basic	processed_transcript	ARHGAP11B	HGNC	protein_coding	OTTHUMT00000430733.2	0	0	0	45	45	7	0.00	0.00	A	NM_001039841		31042691	+1	22	9	26	18	tier1	no_errors	ENST00000562954	ensembl	human	known	74_37	rna	44.90	33.33	SNP	1.000	C	22	26
ARHGAP31	57514	genome.wustl.edu	37	3	119134704	119134704	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:119134704C>T	ENST00000264245.4	+	12	4460	c.3928C>T	c.(3928-3930)Cgc>Tgc	p.R1310C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1310					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGCAGAAAGCGCATGTCAGA	0.547													ENSG00000031081																									Pancreas(7;176 297 5394 51128 51241)												0													91.0	96.0	95.0					3																	119134704		1964	4177	6141	SO:0001583	missense	0			-		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3928C>T	3.37:g.119134704C>T	ENSP00000264245:p.Arg1310Cys		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R1310C	ENST00000264245.4	37	c.3928	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742665	0.49151	.	.	ENSG00000031081	ENST00000264245	T	0.54866	0.55	5.87	5.0	0.66597	.	0.000000	0.64402	D	0.000008	T	0.40570	0.1122	L	0.34521	1.04	0.80722	D	1	B	0.33135	0.399	B	0.23275	0.045	T	0.42447	-0.9451	10	0.87932	D	0	.	14.2167	0.65797	0.0:0.9289:0.0:0.0711	.	1310	Q2M1Z3	RHG31_HUMAN	C	1310	ENSP00000264245:R1310C	ENSP00000264245:R1310C	R	+	1	0	ARHGAP31	120617394	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.775000	0.55349	1.631000	0.50456	0.655000	0.94253	CGC	-	ARHGAP31	-	NULL		0.547	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	0	0	0	18	18	50	0.00	0.00	C			119134704	+1	7	9	26	61	tier1	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	21.21	12.86	SNP	1.000	T	7	26
PCDHGB4	8641	genome.wustl.edu	37	5	140767512	140767512	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140767512C>A	ENST00000519479.1	+	1	61	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	21					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTCTCTTCCTGCTGTCTTT	0.642											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000253953																																					0													6.0	7.0	6.0					5																	140767512		1705	3859	5564	SO:0001583	missense	0			-	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.61C>A	5.37:g.140767512C>A	ENSP00000428288:p.Leu21Met	1658	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L21M	ENST00000519479.1	37	c.61	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	10.75	1.437584	0.25900	.	.	ENSG00000253953	ENST00000519479	T	0.56103	0.48	4.99	3.06	0.35304	.	.	.	.	.	T	0.47948	0.1473	N	0.08118	0	0.09310	N	1	D;P	0.63880	0.993;0.897	D;P	0.68353	0.957;0.472	T	0.29058	-1.0024	9	0.62326	D	0.03	.	7.1004	0.25333	0.2538:0.6152:0.0:0.131	.	21;21	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	21	ENSP00000428288:L21M	ENSP00000428288:L21M	L	+	1	2	PCDHGB4	140747696	0.000000	0.05858	1.000000	0.80357	0.171000	0.22731	-0.120000	0.10660	2.468000	0.83385	0.655000	0.94253	CTG	-	PCDHGB4	-	NULL		0.642	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	0	0	0	38	38	8	0.00	0.00	C	NM_003736		140767512	+1	7	4	22	10	tier1	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	24.14	28.57	SNP	0.041	A	7	22
ARMCX4	100131755	genome.wustl.edu	37	X	100750085	100750085	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:100750085G>A	ENST00000423738.3	+	2	6711	c.6509G>A	c.(6508-6510)cGt>cAt	p.R2170H		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						GAATTTCTTCGTTTGTTAACG	0.358													ENSG00000196440																																					0																																										SO:0001583	missense	0			-	AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.6509G>A	X.37:g.100750085G>A	ENSP00000404304:p.Arg2170His		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.R2170H	ENST00000423738.3	37	c.6509	CCDS59170.1	X	.	.	.	.	.	.	.	.	.	.	.	7.734	0.699956	0.15106	.	.	ENSG00000196440	ENST00000423738	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.37237	0.0996	.	.	.	0.21627	N	0.999619	.	.	.	.	.	.	T	0.17806	-1.0357	4	.	.	.	.	9.6373	0.39817	0.0:0.0:1.0:0.0	.	.	.	.	H	2274	.	.	R	+	2	0	ARMCX4	100636741	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.220000	0.32491	2.019000	0.59389	0.377000	0.23210	CGT	-	ARMCX4	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.358	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	0	0	0	18	18	30	0.00	0.00	G	NM_001256155		100750085	+1	17	20	14	24	tier1	no_errors	ENST00000423738	ensembl	human	putative	74_37	missense	54.84	45.45	SNP	1.000	A	17	14
EDEM2	55741	genome.wustl.edu	37	20	33703483	33703483	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:33703483T>A	ENST00000374492.3	-	11	1595	c.1490A>T	c.(1489-1491)gAg>gTg	p.E497V	EDEM2_ENST00000541621.1_Missense_Mutation_p.E276V|EDEM2_ENST00000542871.1_Missense_Mutation_p.E221V|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000374491.3_Missense_Mutation_p.E460V	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	497					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTCCTCCACCTCCCACTGCTC	0.562													ENSG00000088298																									Esophageal Squamous(51;906 1021 24535 36410 39145)												0													117.0	115.0	116.0					20																	33703483		2203	4300	6503	SO:0001583	missense	0			-	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1490A>T	20.37:g.33703483T>A	ENSP00000363616:p.Glu497Val		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E497V	ENST00000374492.3	37	c.1490	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579229	0.86645	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871	T;T;T;T	0.61859	0.07;0.08;1.64;1.62	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	L	0.34521	1.04	0.80722	D	1	P;D;P	0.53151	0.928;0.958;0.93	P;P;B	0.54174	0.744;0.58;0.376	T	0.63510	-0.6621	10	0.59425	D	0.04	-19.5349	15.794	0.78394	0.0:0.0:0.0:1.0	.	276;460;497	G3V1Q0;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	V	460;497;276;221	ENSP00000363615:E460V;ENSP00000363616:E497V;ENSP00000443528:E276V;ENSP00000441642:E221V	ENSP00000363615:E460V	E	-	2	0	EDEM2	33167144	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.868000	0.87116	2.317000	0.78254	0.459000	0.35465	GAG	-	EDEM2	-	NULL		0.562	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	0	0	0	46	46	50	0.00	0.00	T	NM_018217		33703483	-1	15	26	15	36	tier1	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	50.00	41.94	SNP	1.000	A	15	15
DCTN1	1639	genome.wustl.edu	37	2	74596522	74596522	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:74596522G>A	ENST00000361874.3	-	14	1806	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	DCTN1_ENST00000394003.3_Missense_Mutation_p.R490C|DCTN1_ENST00000409240.1_Missense_Mutation_p.R460C|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409868.1_Missense_Mutation_p.R480C|DCTN1_ENST00000407639.2_Missense_Mutation_p.R363C|DCTN1_ENST00000409438.1_Missense_Mutation_p.R363C|DCTN1_ENST00000409567.3_Missense_Mutation_p.R477C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	497					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGGCCTCACGAACCCGCGCG	0.592													ENSG00000204843																																					0													96.0	96.0	96.0					2																	74596522		2203	4300	6503	SO:0001583	missense	0			-		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1489C>T	2.37:g.74596522G>A	ENSP00000354791:p.Arg497Cys		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.R497C	ENST00000361874.3	37	c.1489	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401083	0.62288	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.11;-1.19	5.91	3.88	0.44766	.	0.000000	0.39615	N	0.001320	D	0.88610	0.6483	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.80764	0.964;0.992;0.99;0.917;0.962;0.994	D	0.90809	0.4700	10	0.72032	D	0.01	-5.7637	15.4321	0.75108	0.0:0.0:0.7304:0.2696	.	477;460;497;490;363;363	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	C	497;490;480;363;363;460;480;477	ENSP00000354791:R497C;ENSP00000377571:R490C;ENSP00000384844:R363C;ENSP00000387270:R363C;ENSP00000386406:R460C;ENSP00000387327:R480C;ENSP00000386843:R477C	ENSP00000354791:R497C	R	-	1	0	DCTN1	74450030	1.000000	0.71417	0.589000	0.28718	0.599000	0.36880	3.618000	0.54188	1.437000	0.47472	0.655000	0.94253	CGT	-	DCTN1	-	superfamily_P-loop_NTPase		0.592	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	0	0	0	13	13	64	0.00	0.00	G	NM_004082		74596522	-1	9	24	9	44	tier1	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	50.00	35.29	SNP	0.942	A	9	9
C15orf27	123591	genome.wustl.edu	37	15	76463371	76463371	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:76463371C>T	ENST00000388942.3	+	7	827	c.551C>T	c.(550-552)cCg>cTg	p.P184L		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	184					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCTTTGGCTCCGATGGTGGCA	0.602													ENSG00000169758																																					0													55.0	52.0	53.0					15																	76463371		2197	4294	6491	SO:0001583	missense	0			-	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.551C>T	15.37:g.76463371C>T	ENSP00000373594:p.Pro184Leu		Q8N993|Q96LL5	Missense_Mutation	SNP	NULL	p.P184L	ENST00000388942.3	37	c.551	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320480	0.81469	.	.	ENSG00000169758	ENST00000388942	D	0.97186	-4.28	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000004	D	0.97155	0.9070	L	0.38953	1.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96444	0.9329	10	0.27785	T	0.31	-10.4107	17.0045	0.86389	0.0:1.0:0.0:0.0	.	184	Q2M3C6	CO027_HUMAN	L	184	ENSP00000373594:P184L	ENSP00000373594:P184L	P	+	2	0	C15orf27	74250426	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	7.197000	0.77814	2.247000	0.74100	0.561000	0.74099	CCG	-	C15orf27	-	NULL		0.602	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	HGNC	protein_coding	OTTHUMT00000286637.2	0	0	0	43	43	52	0.00	0.00	C	NM_152335		76463371	+1	20	18	23	58	tier1	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	46.51	23.68	SNP	1.000	T	20	23
UNC79	57578	genome.wustl.edu	37	14	93940446	93940446	+	Missense_Mutation	SNP	G	G	A	rs553525279		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:93940446G>A	ENST00000393151.2	+	3	155	c.155G>A	c.(154-156)cGc>cAc	p.R52H	UNC79_ENST00000555664.1_Missense_Mutation_p.R52H|UNC79_ENST00000553484.1_Missense_Mutation_p.R52H|UNC79_ENST00000256339.4_Intron			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	52					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATTTTGTCCCGCACAGGGAAG	0.423													ENSG00000133958																																					0																																										SO:0001583	missense	0			-	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.155G>A	14.37:g.93940446G>A	ENSP00000376858:p.Arg52His		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R52H	ENST00000393151.2	37	c.155		14	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213659	0.58452	.	.	ENSG00000133958	ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T	0.19105	2.17;2.17;2.17	6.06	6.06	0.98353	.	.	.	.	.	T	0.48150	0.1484	.	.	.	0.48571	D	0.99967	.	.	.	.	.	.	T	0.35847	-0.9772	6	0.62326	D	0.03	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	H	52	ENSP00000450868:R52H;ENSP00000451360:R52H;ENSP00000376858:R52H	ENSP00000376860:R52H	R	+	2	0	KIAA1409	93010199	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.062000	0.89475	2.882000	0.98803	0.655000	0.94253	CGC	-	UNC79	-	NULL		0.423	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	0	0	0	32	32	32	0.00	0.00	G	XM_028395		93940446	+1	18	12	23	38	tier1	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	43.90	24.00	SNP	1.000	A	18	23
MLLT4	4301	genome.wustl.edu	37	6	168352571	168352571	+	Missense_Mutation	SNP	T	T	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:168352571T>A	ENST00000447894.2	+	29	4516	c.4516T>A	c.(4516-4518)Tcc>Acc	p.S1506T	MLLT4_ENST00000366806.2_Missense_Mutation_p.S1506T|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1489T|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1513T|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1505T|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1506T|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1506T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1506					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAGCTTTCCTCGGGGGA	0.597			T	MLL	AL								ENSG00000130396																												Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													37.0	43.0	41.0					6																	168352571		2203	4300	6503	SO:0001583	missense	0			-	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4516T>A	6.37:g.168352571T>A	ENSP00000404595:p.Ser1506Thr		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S1506T	ENST00000447894.2	37	c.4516		6	.	.	.	.	.	.	.	.	.	.	T	5.587	0.293143	0.10567	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04551	3.81;3.69;3.8;3.78;3.6;3.69;3.69	5.19	2.74	0.32292	.	0.396377	0.26251	N	0.025441	T	0.01489	0.0048	L	0.41027	1.25	0.28344	N	0.9212	B;B;B;B	0.19331	0.021;0.035;0.016;0.016	B;B;B;B	0.16289	0.01;0.015;0.015;0.015	T	0.46233	-0.9206	10	0.21540	T	0.41	0.2295	12.1296	0.53936	0.0:0.0:0.2842:0.7158	.	1506;1505;1506;1490	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	T	1506;1513;1506;1506;1489;1506;1505;1506	ENSP00000341118:S1506T;ENSP00000252692:S1513T;ENSP00000375956:S1506T;ENSP00000355771:S1506T;ENSP00000375960:S1489T;ENSP00000383623:S1505T;ENSP00000404595:S1506T	ENSP00000345834:S1506T	S	+	1	0	MLLT4	168095420	0.900000	0.30661	0.021000	0.16686	0.200000	0.23975	1.250000	0.32850	0.277000	0.22141	0.533000	0.62120	TCC	-	MLLT4	-	NULL		0.597	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	0	0	0	18	18	37	0.00	0.00	T	NM_005936		168352571	+1	12	10	18	18	tier1	no_errors	ENST00000366806	ensembl	human	known	74_37	missense	40.00	35.71	SNP	0.172	A	12	18
GPHA2	170589	genome.wustl.edu	37	11	64702261	64702261	+	Missense_Mutation	SNP	C	C	T	rs573463788		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:64702261C>T	ENST00000279168.2	-	4	428	c.374G>A	c.(373-375)cGc>cAc	p.R125H	GPHA2_ENST00000533257.1_Missense_Mutation_p.R125H	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	125						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						GCGAGAGAGGCGACACATGTC	0.597													ENSG00000149735	C|||	1	0.000199681	0.0	0.0	5008	,	,		16219	0.0		0.001	False		,,,				2504	0.0																0													109.0	98.0	101.0					11																	64702261		2201	4297	6498	SO:0001583	missense	0			-	AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"""glycoprotein alpha 2"", ""cysteine knot protein"""	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.374G>A	11.37:g.64702261C>T	ENSP00000279168:p.Arg125His		Q52LE2	Missense_Mutation	SNP	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone	p.R125H	ENST00000279168.2	37	c.374	CCDS8086.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446678	0.63178	.	.	ENSG00000149735	ENST00000279168;ENST00000533257	T;T	0.30714	1.52;1.52	4.52	4.52	0.55395	Cystine knot, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.27663	0.0680	L	0.35723	1.085	0.80722	D	1	D	0.54772	0.968	B	0.42798	0.398	T	0.05068	-1.0908	10	0.46703	T	0.11	.	15.5738	0.76359	0.0:1.0:0.0:0.0	.	125	Q96T91	GPHA2_HUMAN	H	125	ENSP00000279168:R125H;ENSP00000432918:R125H	ENSP00000279168:R125H	R	-	2	0	GPHA2	64458837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.869000	0.56062	2.447000	0.82792	0.655000	0.94253	CGC	-	GPHA2	-	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone		0.597	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPHA2	HGNC	protein_coding	OTTHUMT00000385470.1	0	0	0	58	58	58	0.00	0.00	C	NM_130769		64702261	-1	13	10	54	42	tier1	no_errors	ENST00000279168	ensembl	human	known	74_37	missense	19.40	19.23	SNP	1.000	T	13	54
CFAP45	25790	genome.wustl.edu	37	1	159857724	159857724	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:159857724C>T	ENST00000368099.4	-	5	559	c.495G>A	c.(493-495)ctG>ctA	p.L165L	CCDC19_ENST00000426543.2_Silent_p.L80L|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CCACCTCCTCCAGGTCACTGA	0.547													ENSG00000213085																																					0													280.0	239.0	253.0					1																	159857724		2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000368099.4:c.495G>A	1.37:g.159857724C>T				Silent	SNP	NULL	p.L165	ENST00000368099.4	37	c.495	CCDS30914.1	1																																																																																			-	CCDC19	-	NULL		0.547	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	0	0	0	53	53	76	0.00	0.00	C			159857724	-1	16	20	49	84	tier1	no_errors	ENST00000368099	ensembl	human	known	74_37	silent	24.62	19.23	SNP	1.000	T	16	49
PTPRS	5802	genome.wustl.edu	37	19	5206828	5206828	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:5206828G>A	ENST00000587303.1	-	37	5903	c.5804C>T	c.(5803-5805)gCg>gTg	p.A1935V	PTPRS_ENST00000588012.1_Missense_Mutation_p.A1897V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A1488V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1897V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A1488V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1935V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1915V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1936V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1935	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTCCAGTGCCGCCTGGTAACA	0.622													ENSG00000105426																																					0													147.0	124.0	132.0					19																	5206828		2203	4300	6503	SO:0001583	missense	0			-	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5804C>T	19.37:g.5206828G>A	ENSP00000467537:p.Ala1935Val		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.A1936V	ENST00000587303.1	37	c.5807	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555103	0.86231	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	2.91	2.91	0.33838	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000004	D	0.86920	0.6049	L	0.43701	1.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.995;1.0	D;P;D;B;D	0.91635	0.991;0.647;0.999;0.432;0.999	D	0.88362	0.2988	10	0.87932	D	0	.	13.9299	0.63989	0.0:0.0:1.0:0.0	.	1517;1488;1492;1897;1935	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332	.;.;.;.;PTPRS_HUMAN	V	1936;1935;1935;1926;1915;1897;1517;1492;1488	ENSP00000361489:A1936V;ENSP00000349932:A1935V;ENSP00000262963:A1915V;ENSP00000269907:A1897V;ENSP00000327313:A1488V	ENSP00000262963:A1915V	A	-	2	0	PTPRS	5157828	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	8.901000	0.92560	1.482000	0.48325	0.471000	0.43371	GCG	-	PTPRS	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	0	0	0	54	54	96	0.00	0.00	G			5206828	-1	16	42	29	69	tier1	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	35.56	37.84	SNP	1.000	A	16	29
BBOX1	8424	genome.wustl.edu	37	11	27077051	27077051	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:27077051A>G	ENST00000529202.1	+	2	413	c.74A>G	c.(73-75)gAa>gGa	p.E25G	BBOX1_ENST00000528583.1_Missense_Mutation_p.E25G|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.E25G|BBOX1_ENST00000525090.1_Missense_Mutation_p.E25G			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	25					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TATGATGAGGAAGAGTCTCTC	0.493													ENSG00000129151																																					0													107.0	98.0	101.0					11																	27077051		2202	4299	6501	SO:0001583	missense	0			-	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.74A>G	11.37:g.27077051A>G	ENSP00000435781:p.Glu25Gly		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.E25G	ENST00000529202.1	37	c.74	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	A	3.248	-0.153847	0.06585	.	.	ENSG00000129151	ENST00000529202;ENST00000533566;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.94	-6.68	0.01778	Domain of unknown function, DUF971 (1);	0.487079	0.25194	N	0.032423	T	0.42086	0.1187	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53933	-0.8368	10	0.22109	T	0.4	.	2.7872	0.05377	0.398:0.1383:0.3291:0.1346	.	25	O75936	BODG_HUMAN	G	25	ENSP00000435781:E25G;ENSP00000263182:E25G;ENSP00000434918:E25G;ENSP00000433772:E25G	ENSP00000263182:E25G	E	+	2	0	BBOX1	27033627	0.000000	0.05858	0.006000	0.13384	0.404000	0.30871	-0.361000	0.07612	-0.755000	0.04709	-0.254000	0.11334	GAA	-	BBOX1	-	pfam_DUF971,tigrfam_2-oxoglut_dOase		0.493	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1	0	0	0	44	44	35	0.00	0.00	A	NM_003986		27077051	+1	11	13	35	53	tier1	no_errors	ENST00000263182	ensembl	human	known	74_37	missense	23.91	19.70	SNP	0.001	G	11	35
ARHGEF17	9828	genome.wustl.edu	37	11	73021102	73021102	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:73021102G>A	ENST00000263674.3	+	1	1769	c.1419G>A	c.(1417-1419)acG>acA	p.T473T	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	473					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGACCCTGACGCTTCTCAGTT	0.567													ENSG00000110237																																					0													71.0	77.0	75.0					11																	73021102		2200	4293	6493	SO:0001819	synonymous_variant	0			-	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1419G>A	11.37:g.73021102G>A			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.T473	ENST00000263674.3	37	c.1419	CCDS8221.1	11																																																																																			-	ARHGEF17	-	NULL		0.567	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	0	0	0	110	110	71	0.00	0.00	G	NM_014786		73021102	+1	27	16	73	67	tier1	no_errors	ENST00000263674	ensembl	human	known	74_37	silent	27.00	19.28	SNP	0.060	A	27	73
SCN2A	6326	genome.wustl.edu	37	2	166170230	166170230	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:166170230C>T	ENST00000375437.2	+	9	1425	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	SCN2A_ENST00000375427.2_Missense_Mutation_p.R379C|SCN2A_ENST00000357398.3_Missense_Mutation_p.R379C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R379C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	379					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R379C(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCCTTATTTCGTCTCATGAC	0.413													ENSG00000136531																																					1	Substitution - Missense(1)	skin(1)											115.0	108.0	110.0					2																	166170230		2203	4300	6503	SO:0001583	missense	0			-	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1135C>T	2.37:g.166170230C>T	ENSP00000364586:p.Arg379Cys		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.R379C	ENST00000375437.2	37	c.1135	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308608	0.81247	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.77	5.77	0.91146	Ion transport (1);	0.207319	0.35320	N	0.003293	D	0.99004	0.9660	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.99174	1.0865	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	379;379	Q99250-2;Q99250	.;SCN2A_HUMAN	C	379	ENSP00000406454:R379C;ENSP00000364586:R379C;ENSP00000349973:R379C;ENSP00000283256:R379C;ENSP00000364576:R379C	ENSP00000283256:R379C	R	+	1	0	SCN2A	165878476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.102000	0.71486	2.885000	0.99019	0.655000	0.94253	CGT	-	SCN2A	-	pfam_Ion_trans_dom		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	0	0	0	53	53	52	0.00	0.00	C	NM_021007		166170230	+1	21	35	49	66	tier1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	30.00	34.65	SNP	1.000	T	21	49
SELL	6402	genome.wustl.edu	37	1	169679644	169679644	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:169679644T>G	ENST00000236147.4	-	2	217	c.57A>C	c.(55-57)aaA>aaC	p.K19N	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	6					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TGCTCTGACATTTCCATGGAA	0.358													ENSG00000188404																																					0													59.0	55.0	56.0					1																	169679644		1829	4076	5905	SO:0001583	missense	0			-	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.57A>C	1.37:g.169679644T>G	ENSP00000236147:p.Lys19Asn		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.K19N	ENST00000236147.4	37	c.57	CCDS53427.1	1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556684	0.45487	.	.	ENSG00000188404	ENST00000236147	T	0.15139	2.45	4.75	1.25	0.21368	.	0.231591	0.29822	N	0.011120	T	0.07279	0.0184	M	0.67953	2.075	0.09310	N	1	P;P	0.50272	0.933;0.883	B;B	0.41135	0.348;0.348	T	0.13818	-1.0495	10	0.72032	D	0.01	-12.9824	6.0409	0.19734	0.0:0.3115:0.0:0.6885	.	19;6	Q8WW79;P14151	.;LYAM1_HUMAN	N	19	ENSP00000236147:K19N	ENSP00000236147:K19N	K	-	3	2	SELL	167946268	0.173000	0.23056	0.011000	0.14972	0.090000	0.18270	1.199000	0.32235	0.413000	0.25759	0.454000	0.30748	AAA	-	SELL	-	pirsf_L-selectin		0.358	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	0	0	0	52	52	18	0.00	0.00	T	NM_000655		169679644	-1	8	8	91	57	tier1	no_errors	ENST00000236147	ensembl	human	known	74_37	missense	8.08	12.31	SNP	0.013	G	8	91
LOC100507431	100507431	genome.wustl.edu	37	11	130716045	130716045	+	lincRNA	SNP	C	C	T	rs542695819	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:130716045C>T	ENST00000533812.2	-	0	1333																											AAACCAGACTCGGCAATAAAT	0.368													ENSG00000254842	C|||	5	0.000998403	0.0038	0.0	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.0																0																																												0			-																													11.37:g.130716045C>T				R	SNP	-	NULL	ENST00000533812.2	37	NULL		11	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464134	0.26335	.	.	ENSG00000254842	ENST00000533812	.	.	.	4.42	1.47	0.22746	.	.	.	.	.	T	0.20170	0.0485	.	.	.	.	.	.	D	0.56035	0.974	B	0.32342	0.144	T	0.26780	-1.0093	6	0.87932	D	0	.	6.3123	0.21171	0.0:0.683:0.0:0.317	.	170	G5EA22	.	Q	170	.	ENSP00000436275:R170Q	R	-	2	0	RP11-890B15.2	130221255	0.023000	0.18921	0.130000	0.21974	0.532000	0.34746	0.001000	0.13038	0.582000	0.29556	0.591000	0.81541	CGA	-	RP11-890B15.2	-	-		0.368	RP11-890B15.2-001	KNOWN	basic|exp_conf	lincRNA	LOC100507431	Clone_based_vega_gene	lincRNA	OTTHUMT00000385642.2	0	0	0	150	150	59	0.00	0.00	C			130716045	-1	50	25	102	55	tier1	no_errors	ENST00000533434	ensembl	human	known	74_37	rna	32.89	31.25	SNP	0.049	T	50	102
KEAP1	9817	genome.wustl.edu	37	19	10610476	10610476	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:10610476G>A	ENST00000171111.5	-	2	781	c.234C>T	c.(232-234)gaC>gaT	p.D78D	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Silent_p.D78D	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	78	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCAGTGTGACGTCACACAGCT	0.597													ENSG00000079999																																					0													113.0	84.0	94.0					19																	10610476		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.234C>T	19.37:g.10610476G>A			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D78	ENST00000171111.5	37	c.234	CCDS12239.1	19																																																																																			-	KEAP1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	0	0	0	18	18	46	0.00	0.00	G	NM_012289		10610476	-1	7	26	10	40	tier1	no_errors	ENST00000171111	ensembl	human	known	74_37	silent	41.18	38.81	SNP	1.000	A	7	10
AMACR	23600	genome.wustl.edu	37	5	33989126	33989126	+	3'UTR	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:33989126G>T	ENST00000335606.6	-	0	1309				AMACR_ENST00000502637.1_3'UTR|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382085.3_Intron	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATGTTTCCATGCATACAATGT	0.363													ENSG00000242110																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.*72C>A	5.37:g.33989126G>T			A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	R	SNP	-	NULL	ENST00000335606.6	37	NULL	CCDS3902.1	5																																																																																			-	AMACR	-	-		0.363	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	0	0	0	41	41	62	0.00	0.00	G	NM_014324		33989126	-1	15	29	25	104	tier1	no_errors	ENST00000514195	ensembl	human	putative	74_37	rna	37.50	21.80	SNP	0.000	T	15	25
ALS2CL	259173	genome.wustl.edu	37	3	46727052	46727052	+	Missense_Mutation	SNP	C	C	T	rs142502930		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:46727052C>T	ENST00000318962.4	-	7	832	c.749G>A	c.(748-750)cGt>cAt	p.R250H	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R250H	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	250					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGCAGCACACGCTCAGCCCG	0.617													ENSG00000178038	C|||	1	0.000199681	0.0008	0.0	5008	,	,		19540	0.0		0.0	False		,,,				2504	0.0																0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	119.0	92.0	101.0		749,749	5.2	0.9	3	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CL	NM_001190707.1,NM_147129.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	250/954,250/954	46727052	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.749G>A	3.37:g.46727052C>T	ENSP00000313670:p.Arg250His		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.R250H	ENST00000318962.4	37	c.749	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617984	0.66787	0.0	1.16E-4	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.57107	0.42;0.42	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000009	T	0.70996	0.3288	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71182	-0.4668	10	0.46703	T	0.11	.	14.0475	0.64714	0.0:1.0:0.0:0.0	.	250	Q60I27	AL2CL_HUMAN	H	250	ENSP00000313670:R250H;ENSP00000413223:R250H	ENSP00000313670:R250H	R	-	2	0	ALS2CL	46702056	0.983000	0.35010	0.947000	0.38551	0.581000	0.36288	2.773000	0.47686	2.700000	0.92200	0.563000	0.77884	CGT	-	ALS2CL	-	NULL		0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	0	0	0	19	19	37	0.00	0.00	C	NM_147129		46727052	-1	18	14	23	21	tier1	no_errors	ENST00000318962	ensembl	human	known	74_37	missense	43.90	40.00	SNP	0.970	T	18	23
EPB41L4A	64097	genome.wustl.edu	37	5	111570402	111570402	+	Missense_Mutation	SNP	C	C	A	rs376132286		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:111570402C>A	ENST00000261486.5	-	12	1292	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	339						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTGATCAGGCCGGGGAAGCTG	0.458													ENSG00000129595																																					0													212.0	203.0	206.0					5																	111570402		1915	4150	6065	SO:0001583	missense	0			-	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1016G>T	5.37:g.111570402C>A	ENSP00000261486:p.Arg339Leu		A4FUI6	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R339L	ENST00000261486.5	37	c.1016	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.269758	0.95429	.	.	ENSG00000129595	ENST00000261486	D	0.91237	-2.81	5.82	5.82	0.92795	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.85197	2.74	0.41557	D	0.988601	D	0.89917	1.0	D	0.91635	0.999	D	0.96235	0.9171	10	0.87932	D	0	.	18.8566	0.92255	0.0:1.0:0.0:0.0	.	339	Q9HCS5	E41LA_HUMAN	L	339	ENSP00000261486:R339L	ENSP00000261486:R339L	R	-	2	0	EPB41L4A	111598301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.657000	0.67996	2.752000	0.94435	0.655000	0.94253	CGG	-	EPB41L4A	-	pfam_FERM-adjacent		0.458	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	0	0	0	51	51	54	0.00	0.00	C			111570402	-1	14	14	88	95	tier1	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	13.73	12.73	SNP	1.000	A	14	88
KLHDC3	116138	genome.wustl.edu	37	6	42986276	42986276	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:42986276C>T	ENST00000326974.4	+	6	910	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	KLHDC3_ENST00000244670.8_Missense_Mutation_p.R105C|KLHDC3_ENST00000332245.8_Missense_Mutation_p.R180C	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	239					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCCTGAGGGGCGCCGGAGCCA	0.562													ENSG00000124702																																					0													89.0	100.0	96.0					6																	42986276		2203	4300	6503	SO:0001583	missense	0			-	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.715C>T	6.37:g.42986276C>T	ENSP00000313995:p.Arg239Cys		A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.R239C	ENST00000326974.4	37	c.715	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377273	0.61735	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.74947	-0.89;-0.89;-0.89	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90710	0.7085	H	0.98701	4.305	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;1.0;1.0;1.0	D	0.93433	0.6787	10	0.87932	D	0	-5.3481	13.2872	0.60249	0.2768:0.7232:0.0:0.0	.	239;180;105;239	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	C	239;239;105;239;212;180	ENSP00000313995:R239C;ENSP00000244670:R105C;ENSP00000331562:R180C	ENSP00000244670:R105C	R	+	1	0	KLHDC3	43094254	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.809000	0.47971	2.692000	0.91855	0.561000	0.74099	CGC	-	KLHDC3	-	pfam_Kelch_1		0.562	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1	0	0	0	18	18	41	0.00	0.00	C	NM_057161		42986276	+1	6	12	20	20	tier1	no_errors	ENST00000326974	ensembl	human	known	74_37	missense	23.08	37.50	SNP	1.000	T	6	20
PLXNC1	10154	genome.wustl.edu	37	12	94703716	94703716	+	IGR	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:94703716A>G	ENST00000258526.4	+	0	7346				CCDC41_ENST00000339839.5_Missense_Mutation_p.L660P|CCDC41_ENST00000397809.5_Missense_Mutation_p.L660P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAAATGGTAGTTCCATGCT	0.358													ENSG00000173588																																					0													173.0	160.0	164.0					12																	94703716		1878	4102	5980	SO:0001628	intergenic_variant	0			-	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235		12.37:g.94703716A>G			Q59H25	Missense_Mutation	SNP	NULL	p.L660P	ENST00000258526.4	37	c.1979	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	A	2.723	-0.266128	0.05754	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809	T;T	0.50001	0.76;0.76	5.81	4.68	0.58851	.	.	.	.	.	T	0.28001	0.0690	N	0.12182	0.205	0.20403	N	0.999904	B	0.09022	0.002	B	0.12156	0.007	T	0.05801	-1.0863	9	0.45353	T	0.12	-0.2876	5.7018	0.17887	0.8141:0.0:0.1859:0.0	.	652	Q9Y592	CCD41_HUMAN	P	124;660;660	ENSP00000344655:L660P;ENSP00000380911:L660P	ENSP00000344655:L660P	L	-	2	0	CCDC41	93227847	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	0.833000	0.27504	2.218000	0.71995	0.377000	0.23210	CTA	-	CCDC41	-	NULL		0.358	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC41	HGNC	protein_coding	OTTHUMT00000408126.2	0	0	0	78	78	39	0.00	0.00	A			94703716	-1	40	27	83	55	tier1	no_errors	ENST00000339839	ensembl	human	known	74_37	missense	32.52	32.93	SNP	0.005	G	40	83
WNK3	65267	genome.wustl.edu	37	X	54275146	54275146	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:54275146C>A	ENST00000375159.2	-	16	3634	c.3635G>T	c.(3634-3636)aGc>aTc	p.S1212I	WNK3_ENST00000375169.3_Missense_Mutation_p.S1212I|WNK3_ENST00000354646.2_Missense_Mutation_p.S1212I			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1212					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACACAATTCGCTGGGTACAGA	0.378													ENSG00000196632																																					0													58.0	51.0	53.0					X																	54275146		2203	4299	6502	SO:0001583	missense	0			-	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3635G>T	X.37:g.54275146C>A	ENSP00000364301:p.Ser1212Ile		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S1212I	ENST00000375159.2	37	c.3635	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085194	0.55861	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71222	-0.54;-0.55;-0.55	5.35	4.48	0.54585	.	0.168250	0.41938	D	0.000793	T	0.71467	0.3343	L	0.29908	0.895	0.26036	N	0.981677	D;D	0.67145	0.996;0.974	P;P	0.61533	0.89;0.737	T	0.64428	-0.6410	10	0.66056	D	0.02	-6.8252	10.776	0.46350	0.0:0.9042:0.0:0.0958	.	1212;1212	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	I	1212	ENSP00000364312:S1212I;ENSP00000346667:S1212I;ENSP00000364301:S1212I	ENSP00000346667:S1212I	S	-	2	0	WNK3	54291871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.209000	0.32357	2.218000	0.71995	0.544000	0.68410	AGC	-	WNK3	-	NULL		0.378	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	0	0	0	61	61	23	0.00	0.00	C	NM_020922		54275146	-1	24	17	58	37	tier1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	29.27	31.48	SNP	1.000	A	24	58
BEX2	84707	genome.wustl.edu	37	X	102564733	102564733	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:102564733C>T	ENST00000372677.3	-	3	439	c.172G>A	c.(172-174)Gtt>Att	p.V58I	BEX2_ENST00000372674.1_Missense_Mutation_p.V58I|BEX2_ENST00000536889.1_Missense_Mutation_p.V90I	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	58					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						GGCTGCCTAACGCGGAACCGC	0.498													ENSG00000133134																																					0													156.0	136.0	143.0					X																	102564733		2203	4300	6503	SO:0001583	missense	0			-	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.172G>A	X.37:g.102564733C>T	ENSP00000361762:p.Val58Ile		B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.V90I	ENST00000372677.3	37	c.268	CCDS14505.1	X	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998151	0.35226	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.01	2.23	0.28157	.	0.697281	0.12501	N	0.463336	T	0.12817	0.0311	M	0.78916	2.43	0.09310	N	1	P;P	0.46912	0.886;0.861	B;B	0.38106	0.265;0.228	T	0.20538	-1.0272	10	0.56958	D	0.05	.	5.5895	0.17293	0.0:0.7424:0.0:0.2576	.	58;90	Q9BXY8;F5H7H5	BEX2_HUMAN;.	I	58;90;58;58	ENSP00000361762:V58I;ENSP00000442521:V90I;ENSP00000361759:V58I;ENSP00000394915:V58I	ENSP00000361759:V58I	V	-	1	0	BEX2	102451389	0.506000	0.26139	0.032000	0.17829	0.760000	0.43138	0.817000	0.27281	0.469000	0.27268	0.600000	0.82982	GTT	-	BEX2	-	pfam_TF_A-like/BEX-like		0.498	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BEX2	HGNC	protein_coding	OTTHUMT00000057702.1	0	0	0	19	19	20	0.00	0.00	C	NM_032621		102564733	-1	15	12	12	12	tier1	no_errors	ENST00000536889	ensembl	human	known	74_37	missense	55.56	50.00	SNP	0.034	T	15	12
CEP350	9857	genome.wustl.edu	37	1	180010302	180010302	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:180010302G>A	ENST00000367607.3	+	18	4558	c.4140G>A	c.(4138-4140)ttG>ttA	p.L1380L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1380					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAGAGACTTGGCCCTCTTGA	0.403													ENSG00000135837																																					0													39.0	36.0	37.0					1																	180010302		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4140G>A	1.37:g.180010302G>A			O75068|Q8TDK3|Q8WY20	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.L1380	ENST00000367607.3	37	c.4140	CCDS1336.1	1																																																																																			-	CEP350	-	NULL		0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	0	0	0	69	69	37	0.00	0.00	G	NM_014810		180010302	+1	31	12	46	42	tier1	no_errors	ENST00000367607	ensembl	human	known	74_37	silent	39.24	22.22	SNP	1.000	A	31	46
ZDHHC3	51304	genome.wustl.edu	37	3	44968199	44968199	+	Silent	SNP	C	C	T	rs377350770		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:44968199C>T	ENST00000424952.2	-	7	1150	c.882G>A	c.(880-882)ccG>ccA	p.P294P	ZDHHC3_ENST00000296127.3_Silent_p.P322P|ZDHHC3_ENST00000342790.4_Silent_p.P328P	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	294					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATACTGGTACGGGTCTGCCT	0.532													ENSG00000163812																																					0													91.0	78.0	82.0					3																	44968199		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.882G>A	3.37:g.44968199C>T			Q53A17|Q96BL0	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P322	ENST00000424952.2	37	c.966	CCDS46811.1	3																																																																																			-	ZDHHC3	-	NULL		0.532	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000347004.1	0	0	0	50	50	83	0.00	0.00	C	NM_016598		44968199	-1	20	33	34	56	tier1	no_errors	ENST00000296127	ensembl	human	known	74_37	silent	37.04	37.08	SNP	0.998	T	20	34
CEP72	55722	genome.wustl.edu	37	5	639252	639252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:639252C>T	ENST00000264935.5	+	8	1345	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	419					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GACGGCCCTGCAGGCGGCGCT	0.637													ENSG00000112877																																					0													35.0	41.0	39.0					5																	639252		2203	4300	6503	SO:0001587	stop_gained	0			-	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1255C>T	5.37:g.639252C>T	ENSP00000264935:p.Gln419*		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Nonsense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.Q419*	ENST00000264935.5	37	c.1255	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431496	0.83776	.	.	ENSG00000112877	ENST00000264935	.	.	.	4.45	1.44	0.22558	.	0.547916	0.17042	N	0.189279	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-11.9108	12.4662	0.55759	0.0:0.5266:0.4734:0.0	.	.	.	.	X	419	.	ENSP00000264935:Q419X	Q	+	1	0	CEP72	692252	0.024000	0.19004	0.088000	0.20740	0.009000	0.06853	1.038000	0.30254	0.142000	0.18901	-0.502000	0.04539	CAG	-	CEP72	-	NULL		0.637	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	0	0	0	35	35	12	0.00	0.00	C	NM_018140		639252	+1	12	3	24	14	tier1	no_errors	ENST00000264935	ensembl	human	known	74_37	nonsense	33.33	17.65	SNP	0.099	T	12	24
EPHA3	2042	genome.wustl.edu	37	3	89391179	89391179	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:89391179G>A	ENST00000336596.2	+	5	1470	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	EPHA3_ENST00000452448.2_Silent_p.V415V|EPHA3_ENST00000494014.1_Silent_p.V415V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	415	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTAATGGGGTGTCAGAGCTGA	0.483										TSP Lung(6;0.00050)			ENSG00000044524																																					0													81.0	66.0	71.0					3																	89391179		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1245G>A	3.37:g.89391179G>A			Q9H2V3|Q9H2V4	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V415	ENST00000336596.2	37	c.1245	CCDS2922.1	3																																																																																			-	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	0	0	0	24	24	58	0.00	0.00	G	NM_005233		89391179	+1	7	30	21	36	tier1	no_errors	ENST00000336596	ensembl	human	known	74_37	silent	25.00	45.45	SNP	0.994	A	7	21
GPD2	2820	genome.wustl.edu	37	2	157414067	157414067	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:157414067C>T	ENST00000310454.6	+	9	1510	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.R153C|GPD2_ENST00000438166.2_Missense_Mutation_p.R380C|GPD2_ENST00000409674.1_Missense_Mutation_p.R380C	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	380					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAATGAAGTGCGTAATTACCT	0.408													ENSG00000115159																																					0													119.0	102.0	108.0					2																	157414067		2203	4300	6503	SO:0001583	missense	0			-		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1138C>T	2.37:g.157414067C>T	ENSP00000308610:p.Arg380Cys		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.R380C	ENST00000310454.6	37	c.1138	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480073	0.84747	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	6.03	6.03	0.97812	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.72576	2.205	0.80722	D	1	B	0.28470	0.213	B	0.35813	0.211	T	0.60347	-0.7281	10	0.62326	D	0.03	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	380	P43304	GPDM_HUMAN	C	380;153;380;380	ENSP00000308610:R380C;ENSP00000386484:R153C;ENSP00000409708:R380C;ENSP00000386425:R380C	ENSP00000308610:R380C	R	+	1	0	GPD2	157122313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CGT	-	GPD2	-	pfam_FAD-dep_OxRdtase		0.408	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	0	0	0	28	28	55	0.00	0.00	C			157414067	+1	6	13	29	66	tier1	no_errors	ENST00000310454	ensembl	human	known	74_37	missense	17.14	16.25	SNP	1.000	T	6	29
NLGN3	54413	genome.wustl.edu	37	X	70389119	70389119	+	Silent	SNP	G	G	A	rs370836243		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:70389119G>A	ENST00000358741.3	+	8	2022	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.P533P|NLGN3_ENST00000374051.3_Silent_p.P553P	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	573					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCAACAAGCCGGTCCCCCAGG	0.527													ENSG00000196338																									Esophageal Squamous(103;760 1488 16849 22250 40351)												0								G	,,	1,3834		0,1,1631,571	48.0	39.0	42.0		1599,1659,1719	-0.1	1.0	X		42	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	NLGN3	NM_001166660.1,NM_018977.3,NM_181303.1	,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,	533/809,553/829,573/849	70389119	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1719G>A	X.37:g.70389119G>A			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P573	ENST00000358741.3	37	c.1719	CCDS55441.1	X																																																																																			-	NLGN3	-	pfam_CarbesteraseB,prints_Neuroligin		0.527	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	0	0	0	39	39	42	0.00	0.00	G	NM_018977		70389119	+1	31	21	42	35	tier1	no_errors	ENST00000358741	ensembl	human	known	74_37	silent	42.47	37.50	SNP	0.573	A	31	42
SMPD2	6610	genome.wustl.edu	37	6	109764231	109764231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:109764231C>T	ENST00000258052.3	+	8	1035	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	226					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CGTCAGCCAGCAGGAGCTGAA	0.512													ENSG00000135587																																					0													94.0	86.0	88.0					6																	109764231		2203	4300	6503	SO:0001587	stop_gained	0			-	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.676C>T	6.37:g.109764231C>T	ENSP00000258052:p.Gln226*		Q5TED1|Q9BWR3	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q226*	ENST00000258052.3	37	c.676	CCDS5075.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994708	0.74703	.	.	ENSG00000135587	ENST00000258052	.	.	.	5.95	-0.876	0.10624	.	0.837431	0.11297	N	0.578680	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5566	16.2854	0.82717	0.6502:0.3498:0.0:0.0	.	.	.	.	X	226	.	ENSP00000258052:Q226X	Q	+	1	0	SMPD2	109870924	0.029000	0.19370	0.494000	0.27515	0.320000	0.28249	-0.192000	0.09587	0.089000	0.17243	-0.182000	0.12963	CAG	-	SMPD2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.512	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	0	0	0	25	25	112	0.00	0.00	C			109764231	+1	4	36	9	52	tier1	no_errors	ENST00000258052	ensembl	human	known	74_37	nonsense	30.77	40.91	SNP	0.002	T	4	9
HNF1A	6927	genome.wustl.edu	37	12	121432065	121432065	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:121432065G>T	ENST00000257555.6	+	4	1038	c.812G>T	c.(811-813)cGg>cTg	p.R271L	HNF1A_ENST00000543427.1_Missense_Mutation_p.R154L|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271L|HNF1A_ENST00000402929.1_Missense_Mutation_p.R271L|HNF1A_ENST00000400024.2_Missense_Mutation_p.R271L|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271L			P20823	HNF1A_HUMAN	HNF1 homeobox A	271	Interaction with DNA.		R -> W (in MODY3). {ECO:0000269|PubMed:9754819}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K273fs*41(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTGCCAACCGGCGCAAAGAA	0.667									Hepatic Adenoma, Familial Clustering of				ENSG00000135100																																					1	Deletion - Frameshift(1)	liver(1)	GRCh37	CM023589	HNF1A	M							40.0	37.0	38.0					12																	121432065		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	-	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.812G>T	12.37:g.121432065G>T	ENSP00000257555:p.Arg271Leu		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R271L	ENST00000257555.6	37	c.812	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.186582	0.94885	.	.	ENSG00000135100	ENST00000257555;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	4.84	4.84	0.62591	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000012	D	0.98012	0.9345	M	0.75264	2.295	0.80722	D	1	D;D;B;B	0.61697	0.979;0.99;0.144;0.225	P;D;B;B	0.63283	0.698;0.913;0.125;0.144	D	0.98781	1.0732	10	0.62326	D	0.03	-44.5159	16.9721	0.86303	0.0:0.0:1.0:0.0	.	271;271;271;271	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	L	271;271;271;271;154;271;271;271;271;271	ENSP00000257555:R271L;ENSP00000439721:R154L;ENSP00000443112:R271L;ENSP00000438804:R271L	ENSP00000257555:R271L	R	+	2	0	HNF1A	119916448	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.387000	0.97232	2.245000	0.73994	0.409000	0.27619	CGG	-	HNF1A	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.667	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5	0	0	0	35	35	59	0.00	0.00	G	NM_000545		121432065	+1	10	8	28	55	tier1	no_errors	ENST00000257555	ensembl	human	known	74_37	missense	26.32	12.70	SNP	1.000	T	10	28
CELA2A	63036	genome.wustl.edu	37	1	15788100	15788100	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:15788100C>T	ENST00000359621.4	+	3	199	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	58	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						ACCACACCTGCGGAGGGTCCC	0.612													ENSG00000142615																																					0													118.0	103.0	108.0					1																	15788100		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.174C>T	1.37:g.15788100C>T			B2R5I4|Q14243	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C58	ENST00000359621.4	37	c.174	CCDS157.1	1																																																																																			-	CELA2A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.612	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	0	0	0	63	63	23	0.00	0.00	C	NM_033440		15788100	+1	9	4	50	16	tier1	no_errors	ENST00000359621	ensembl	human	known	74_37	silent	15.25	20.00	SNP	1.000	T	9	50
TADA1	117143	genome.wustl.edu	37	1	166826839	166826839	+	Missense_Mutation	SNP	G	G	A	rs200689473		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:166826839G>A	ENST00000367874.4	-	8	1066	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	325					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						GCTGCCAAGCGCTGGCGGTGA	0.448													ENSG00000152382																																					0								G	CYS/ARG	0,4406		0,0,2203	100.0	104.0	103.0		973	4.8	1.0	1		103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TADA1	NM_053053.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	325/336	166826839	2,13004	2203	4300	6503	SO:0001583	missense	0			-	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.973C>T	1.37:g.166826839G>A	ENSP00000356848:p.Arg325Cys		A8K4J9	Missense_Mutation	SNP	superfamily_Histone-fold	p.R325C	ENST00000367874.4	37	c.973	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305383	0.60305	0.0	2.33E-4	ENSG00000152382	ENST00000367874	T	0.50001	0.76	4.75	4.75	0.60458	.	0.054385	0.64402	D	0.000001	T	0.19366	0.0465	L	0.36672	1.1	0.40131	D	0.976720	P	0.51537	0.946	B	0.34346	0.18	T	0.29518	-1.0009	9	0.87932	D	0	-9.7338	10.655	0.45669	0.0:0.0:0.809:0.191	.	325	Q96BN2	TADA1_HUMAN	C	325	ENSP00000356848:R325C	ENSP00000356848:R325C	R	-	1	0	TADA1	165093463	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.800000	0.62524	2.604000	0.88044	0.655000	0.94253	CGC	rs200689473	TADA1	-	NULL		0.448	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	0	0	0	37	37	64	0.00	0.00	G	NM_053053		166826839	-1	15	17	33	61	tier1	no_errors	ENST00000367874	ensembl	human	known	74_37	missense	31.25	21.52	SNP	1.000	A	15	33
TOMM40	10452	genome.wustl.edu	37	19	45404610	45404610	+	Intron	SNP	G	G	A	rs377087222		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:45404610G>A	ENST00000426677.2	+	8	1126				TOMM40_ENST00000405636.2_Intron|TOMM40_ENST00000592434.1_Silent_p.*330*|TOMM40_ENST00000252487.5_Intron	NM_001128917.1	NP_001122389.1	O96008	TOM40_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)						cellular protein metabolic process (GO:0044267)|ion transport (GO:0006811)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane translocase complex (GO:0005742)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein transmembrane transporter activity (GO:0008320)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GGCAGGAGGTGACTCAACTCT	0.582													ENSG00000130204																																					0								G	,,	1,4399		0,1,2199	24.0	20.0	21.0		,,	1.7	0.3	19		21	0,8590		0,0,4295	no	intron,intron,intron	TOMM40	NM_001128916.1,NM_001128917.1,NM_006114.2	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	,,	45404610	1,12989	2200	4295	6495	SO:0001627	intron_variant	0			-	AF043250	CCDS12646.1	19q13	2008-07-04				ENSG00000130204			18001	protein-coding gene	gene with protein product		608061				10980201, 15644312	Standard	NM_006114		Approved	PEREC1, D19S1177E, C19orf1, TOM40, PER-EC1	uc002paa.4	O96008		ENST00000426677.2:c.946+43G>A	19.37:g.45404610G>A			Q86VW4|Q8WY09|Q8WY10|Q8WY11|Q9BR95	Silent	SNP	pfam_Porin_Euk/Tom40	p.*330	ENST00000426677.2	37	c.989	CCDS12646.1	19																																																																																			-	TOMM40	-	NULL		0.582	TOMM40-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOMM40	HGNC	protein_coding	OTTHUMT00000453241.1	0	0	0	42	42	72	0.00	0.00	G			45404610	+1	5	25	33	52	tier1	no_errors	ENST00000592434	ensembl	human	known	74_37	silent	13.16	32.47	SNP	0.551	A	5	33
WBP4	11193	genome.wustl.edu	37	13	41656910	41656910	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:41656910G>A	ENST00000379487.3	+	10	1391	c.991G>A	c.(991-993)Gga>Aga	p.G331R	WBP4_ENST00000542082.1_Missense_Mutation_p.G310R	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	331					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TGATGGTGGCGGAGAACCCAA	0.398													ENSG00000120688																																					0													72.0	73.0	72.0					13																	41656910		2203	4300	6503	SO:0001583	missense	0			-	AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"""formin binding protein 21"""	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.991G>A	13.37:g.41656910G>A	ENSP00000368801:p.Gly331Arg		B7Z4M2|Q32P29	Missense_Mutation	SNP	pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin	p.G331R	ENST00000379487.3	37	c.991	CCDS9375.1	13	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169219	0.38315	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	4.37	4.37	0.52481	.	0.378326	0.30989	N	0.008463	T	0.50377	0.1612	M	0.63428	1.95	0.09310	N	1	D;P	0.63880	0.993;0.918	P;B	0.50860	0.652;0.084	T	0.49031	-0.8981	9	0.46703	T	0.11	-11.4758	15.1164	0.72407	0.0:0.0:1.0:0.0	.	310;331	B7Z4M2;O75554	.;WBP4_HUMAN	R	331;310	.	ENSP00000368801:G331R	G	+	1	0	WBP4	40554910	1.000000	0.71417	0.665000	0.29768	0.955000	0.61496	3.303000	0.51858	1.980000	0.57719	0.555000	0.69702	GGA	-	WBP4	-	NULL		0.398	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	0	0	0	54	54	70	0.00	0.00	G	NM_007187		41656910	+1	23	33	30	59	tier1	no_errors	ENST00000379487	ensembl	human	known	74_37	missense	43.40	35.48	SNP	0.135	A	23	30
ART1	417	genome.wustl.edu	37	11	3681429	3681429	+	Missense_Mutation	SNP	C	C	T	rs566663445		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:3681429C>T	ENST00000250693.1	+	3	781	c.680C>T	c.(679-681)gCc>gTc	p.A227V		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	227					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TGCCTTGGGGCCCCTATCAAG	0.597													ENSG00000129744	C|||	1	0.000199681	0.0	0.0	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.001																0													45.0	44.0	45.0					11																	3681429		2201	4298	6499	SO:0001583	missense	0			-	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.680C>T	11.37:g.3681429C>T	ENSP00000250693:p.Ala227Val		Q6NTD2|Q96KT9	Missense_Mutation	SNP	pfam_ART,prints_ART	p.A227V	ENST00000250693.1	37	c.680	CCDS7744.1	11	.	.	.	.	.	.	.	.	.	.	C	2.339	-0.351568	0.05173	.	.	ENSG00000129744	ENST00000250693	T	0.05319	3.46	5.41	-0.49	0.12049	.	0.432869	0.28376	N	0.015568	T	0.02888	0.0086	N	0.13371	0.34	0.21386	N	0.9997	B	0.09022	0.002	B	0.12156	0.007	T	0.44097	-0.9350	9	.	.	.	.	4.8244	0.13408	0.1442:0.4256:0.0:0.4302	.	227	P52961	NAR1_HUMAN	V	227	ENSP00000250693:A227V	.	A	+	2	0	ART1	3638005	0.001000	0.12720	0.036000	0.18154	0.990000	0.78478	-0.085000	0.11250	0.003000	0.14656	0.563000	0.77884	GCC	-	ART1	-	pfam_ART,prints_ART		0.597	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	HGNC	protein_coding	OTTHUMT00000032765.1	0	0	0	55	55	64	0.00	0.00	C	NM_004314		3681429	+1	28	20	35	38	tier1	no_errors	ENST00000250693	ensembl	human	known	74_37	missense	44.44	34.48	SNP	0.011	T	28	35
AMT	275	genome.wustl.edu	37	3	49459733	49459733	+	Intron	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:49459733G>T	ENST00000273588.3	-	2	393				AMT_ENST00000395338.2_Intron|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000538581.1_Intron|AMT_ENST00000476226.1_Intron|NICN1_ENST00000422593.1_5'Flank|AMT_ENST00000458307.2_Intron|AMT_ENST00000546031.1_Intron	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase						glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	AGTGCCACCAGGGCCCTAGCC	0.652													ENSG00000145020																																					0													51.0	55.0	53.0					3																	49459733		2203	4300	6503	SO:0001627	intron_variant	0			-	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.91-29C>A	3.37:g.49459733G>T			A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	R	SNP	-	NULL	ENST00000273588.3	37	NULL	CCDS2797.1	3																																																																																			-	AMT	-	-		0.652	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMT	HGNC	protein_coding	OTTHUMT00000346216.2	0	0	0	36	36	15	0.00	0.00	G	NM_000481		49459733	-1	7	2	31	10	tier1	no_errors	ENST00000487589	ensembl	human	known	74_37	rna	18.42	16.67	SNP	0.000	T	7	31
CMTR2	55783	genome.wustl.edu	37	16	71318037	71318037	+	Missense_Mutation	SNP	G	G	A	rs189091912		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:71318037G>A	ENST00000338099.5	-	3	2123	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	CMTR2_ENST00000434935.2_Missense_Mutation_p.P596L			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	596					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AACTTCCAACGGTATATGCAT	0.438													ENSG00000180917	G|||	1	0.000199681	0.0	0.0014	5008	,	,		17862	0.0		0.0	False		,,,				2504	0.0																0													46.0	44.0	45.0					16																	71318037		2198	4299	6497	SO:0001583	missense	0			GMAF=0.0005	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1787C>T	16.37:g.71318037G>A	ENSP00000337512:p.Pro596Leu		B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	pfam_rR_MeTrfase_FtsJ_dom	p.P596L	ENST00000338099.5	37	c.1787	CCDS10898.1	16	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.286	-0.983105	0.02180	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.13538	2.58;2.58	6.04	5.03	0.67393	.	0.665350	0.15132	N	0.278780	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31837	0.342	B	0.20184	0.028	T	0.28073	-1.0055	10	0.10902	T	0.67	-10.3677	9.6773	0.40047	0.0:0.2448:0.6224:0.1328	.	596	Q8IYT2	FTSJ1_HUMAN	L	596	ENSP00000337512:P596L;ENSP00000411148:P596L	ENSP00000337512:P596L	P	-	2	0	FTSJD1	69875538	0.000000	0.05858	0.078000	0.20375	0.013000	0.08279	0.835000	0.27531	2.873000	0.98535	0.561000	0.74099	CCG	rs189091912	CMTR2	-	NULL		0.438	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTR2	HGNC	protein_coding	OTTHUMT00000268984.2	0	0	0	50	50	49	0.00	0.00	G	NM_018348		71318037	-1	24	20	42	47	tier1	no_errors	ENST00000338099	ensembl	human	known	74_37	missense	36.36	29.85	SNP	0.001	A	24	42
CA2	760	genome.wustl.edu	37	8	86392969	86392969	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:86392969G>A	ENST00000285379.5	+	7	964	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	245					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GACAACTGGCGCCCAGCTCAG	0.413													ENSG00000104267																																					0													105.0	95.0	98.0					8																	86392969		2203	4300	6503	SO:0001583	missense	0			-	J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.734G>A	8.37:g.86392969G>A	ENSP00000285379:p.Arg245His		B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R245H	ENST00000285379.5	37	c.734	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867903	0.91587	.	.	ENSG00000104267	ENST00000285379	D	0.95035	-3.59	5.85	4.04	0.47022	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.097775	0.64402	N	0.000001	D	0.98692	0.9561	H	0.99963	5.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	-12.9893	12.0378	0.53435	0.1417:0.0:0.8583:0.0	.	245	P00918	CAH2_HUMAN	H	245	ENSP00000285379:R245H	ENSP00000285379:R245H	R	+	2	0	CA2	86580221	1.000000	0.71417	0.927000	0.36925	0.805000	0.45488	9.591000	0.98241	1.455000	0.47813	0.655000	0.94253	CGC	-	CA2	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.413	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	HGNC	protein_coding	OTTHUMT00000381097.2	0	0	0	40	40	68	0.00	0.00	G	NM_000067		86392969	+1	6	9	41	58	tier1	no_errors	ENST00000285379	ensembl	human	known	74_37	missense	12.77	13.43	SNP	0.998	A	6	41
PSD2	84249	genome.wustl.edu	37	5	139216768	139216768	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:139216768G>A	ENST00000274710.3	+	11	1815	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	537	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGAGGCGTGGCTGGAAG	0.602													ENSG00000146005																																					0													78.0	83.0	81.0					5																	139216768		2203	4300	6503	SO:0001583	missense	0			-	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1610G>A	5.37:g.139216768G>A	ENSP00000274710:p.Arg537His		D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.R537H	ENST00000274710.3	37	c.1610	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919246	0.92249	.	.	ENSG00000146005	ENST00000274710	T	0.80653	-1.4	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.93128	0.7812	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94994	0.8137	10	0.87932	D	0	.	18.9015	0.92444	0.0:0.0:1.0:0.0	.	537	Q9BQI7	PSD2_HUMAN	H	537	ENSP00000274710:R537H	ENSP00000274710:R537H	R	+	2	0	PSD2	139196952	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.826000	0.99387	2.477000	0.83638	0.484000	0.47621	CGT	-	PSD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	0	0	0	69	69	67	0.00	0.00	G	NM_032289		139216768	+1	26	31	56	66	tier1	no_errors	ENST00000274710	ensembl	human	known	74_37	missense	31.71	31.96	SNP	1.000	A	26	56
SLC12A4	6560	genome.wustl.edu	37	16	67985101	67985101	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:67985101G>A	ENST00000316341.3	-	9	1379	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000576616.1_Silent_p.V413V|SLC12A4_ENST00000338335.3_Silent_p.V413V|SLC12A4_ENST00000422611.2_Silent_p.V415V|SLC12A4_ENST00000541864.2_Silent_p.V382V|SLC12A4_ENST00000572037.1_Silent_p.V365V|SLC12A4_ENST00000537830.2_Silent_p.V407V	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	413					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGTCAGCGACCACGTACA	0.622													ENSG00000124067																																					0													174.0	149.0	157.0					16																	67985101		2198	4300	6498	SO:0001819	synonymous_variant	0			-		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1239C>T	16.37:g.67985101G>A			B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.V415	ENST00000316341.3	37	c.1245	CCDS10855.1	16																																																																																			-	SLC12A4	-	tigrfam_Na/K/Cl_cotransptS		0.622	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	0	0	0	10	10	46	0.00	0.00	G	NM_005072		67985101	-1	10	25	7	38	tier1	no_errors	ENST00000422611	ensembl	human	known	74_37	silent	58.82	39.06	SNP	0.597	A	10	7
LRRTM1	347730	genome.wustl.edu	37	2	80529882	80529882	+	Missense_Mutation	SNP	C	C	G	rs377040455		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:80529882C>G	ENST00000295057.3	-	2	1719	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D355H|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	355	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TACACGGCGTCCAGGACGTCC	0.682										HNSCC(69;0.2)			ENSG00000162951																																					0								C	,,HIS/ASP	1,4403		0,1,2201	20.0	19.0	20.0		,,1063	5.3	1.0	2		20	0,8600		0,0,4300	no	intron,intron,missense	CTNNA2,LRRTM1	NM_001164883.1,NM_004389.3,NM_178839.4	,,81	0,1,6501	GG,GC,CC		0.0,0.0227,0.0077	,,probably-damaging	,,355/523	80529882	1,13003	2202	4300	6502	SO:0001583	missense	0			-	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1063G>C	2.37:g.80529882C>G	ENSP00000295057:p.Asp355His		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D355H	ENST00000295057.3	37	c.1063	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831834	0.71258	2.27E-4	0.0	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.48201	0.82;0.82	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.72439	0.3460	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75062	-0.3450	9	.	.	.	.	18.8459	0.92205	0.0:1.0:0.0:0.0	.	355	Q86UE6	LRRT1_HUMAN	H	355	ENSP00000295057:D355H;ENSP00000386646:D355H	.	D	-	1	0	LRRTM1	80383393	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.808000	0.86044	2.416000	0.81992	0.655000	0.94253	GAC	-	LRRTM1	-	NULL		0.682	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	0	0	0	39	39	9	0.00	0.00	C	NM_178839		80529882	-1	6	4	15	15	tier1	no_errors	ENST00000295057	ensembl	human	known	74_37	missense	28.57	21.05	SNP	1.000	G	6	15
KLRF2	100431172	genome.wustl.edu	37	12	10041363	10041363	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:10041363C>T	ENST00000535540.1	+	3	308	c.201C>T	c.(199-201)aaC>aaT	p.N67N		NM_001190765.1	NP_001177694.1	D3W0D1	KLRF2_HUMAN	killer cell lectin-like receptor subfamily F, member 2	67					cytokine secretion (GO:0050663)|natural killer cell degranulation (GO:0043320)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|protein homodimerization activity (GO:0042803)										AGAATGTAAACGTCAGCAGTC	0.353													ENSG00000256797																																					0																																										SO:0001819	synonymous_variant	0			-		CCDS53743.1	12p13.31	2010-06-30				ENSG00000256797		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	37646	protein-coding gene	gene with protein product						20194751	Standard	NM_001190765		Approved	NKp65	uc021quy.1	D3W0D1		ENST00000535540.1:c.201C>T	12.37:g.10041363C>T				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.N67	ENST00000535540.1	37	c.201	CCDS53743.1	12																																																																																			-	KLRF2	-	NULL		0.353	KLRF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF2	HGNC	protein_coding		0	0	1	62	62	73	0.00	1.35	C	NM_001190765		10041363	+1	37	17	58	63	tier1	no_errors	ENST00000535540	ensembl	human	known	74_37	silent	38.95	20.73	SNP	0.274	T	37	58
DDX10	1662	genome.wustl.edu	37	11	108788634	108788635	+	In_Frame_Ins	INS	-	-	TGA	rs373041499		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	TGA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:108788634_108788635insTGA	ENST00000322536.3	+	17	2468_2469	c.2339_2340insTGA	c.(2338-2343)agtgat>agTGAtgat	p.788_789insD	DDX10_ENST00000526794.1_In_Frame_Ins_p.788_789insD	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CTGGATTGGAGtgatgatgatg	0.356			T	NUP98	AML*								ENSG00000178105																												Dom	yes		11	11q22-q23	1662	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		L	0																																										SO:0001652	inframe_insertion	0				U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2361_2363dupTGA	11.37:g.108788641_108788643dupTGA	ENSP00000314348:p.Asp788_Asp788dup		B2RCQ3|Q5BJD8	In_Frame_Ins	INS	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif	p.784in_frame_insD	ENST00000322536.3	37	c.2339_2340	CCDS8342.1	11																																																																																				DDX10	-	NULL		0.356	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX10	HGNC	protein_coding	OTTHUMT00000390343.1	0	0	0	38	38	3	0.00	0.00	-	NM_004398		108788635	+1	9	2	27	15	tier1	no_errors	ENST00000322536	ensembl	human	known	74_37	in_frame_ins	25.00	11.76	INS	1.000:0.998	TGA	9	27
ENO4	387712	genome.wustl.edu	37	10	118618628	118618628	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:118618628delA	ENST00000341276.5	+	5	671	c.616delA	c.(616-618)aaafs	p.K208fs	ENO4_ENST00000409522.1_Intron|ENO4_ENST00000369207.2_5'UTR	NM_001242699.1	NP_001229628.1	A6NNW6	ENO4_HUMAN	enolase family member 4	208	Pro-rich.				glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						acctcctaccaAAAAAAAGGG	0.483													ENSG00000188316																																					0																																										SO:0001589	frameshift_variant	0					CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000341276.5:c.616delA	10.37:g.118618628delA	ENSP00000345555:p.Lys208fs		B8ZZN9	Frame_Shift_Del	DEL	pfam_Enolase_C,pfam_Enolase_N	p.K208fs	ENST00000341276.5	37	c.616		10																																																																																				ENO4	-	NULL		0.483	ENO4-201	KNOWN	basic|appris_principal	protein_coding	ENO4	HGNC	protein_coding		0	0	0	113	113	93	0.00	0.00	A	NM_001242699		118618628	+1	32	27	73	60	tier1	no_errors	ENST00000341276	ensembl	human	known	74_37	frame_shift_del	30.48	31.03	DEL	0.942	-	32	73
SCAMP1	9522	genome.wustl.edu	37	5	77684680	77684680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:77684680delT	ENST00000538629.1	+	2	234	c.77delT	c.(76-78)gtgfs	p.V26fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	26					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTACACAAGTGACAAGAAAT	0.274													ENSG00000085365																																					0													45.0	43.0	43.0					5																	77684680		1793	4047	5840	SO:0001589	frameshift_variant	0				AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.77delT	5.37:g.77684680delT	ENSP00000475496:p.Val26fs		O43587|Q6FG23|Q96BX1|Q96QK5	Frame_Shift_Del	DEL	pfam_SCAMP	p.V26fs	ENST00000538629.1	37	c.77		5																																																																																				SCAMP1	-	NULL		0.274	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	SCAMP1	HGNC	protein_coding		0	0	0	159	159	38	0.00	0.00	T	NM_004866		77684680	+1	43	19	136	48	tier1	no_errors	ENST00000538629	ensembl	human	known	74_37	frame_shift_del	24.02	28.36	DEL	1.000	-	43	136
C3orf20	84077	genome.wustl.edu	37	3	14724444	14724444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:14724444delC	ENST00000253697.3	+	3	676	c.224delC	c.(223-225)gccfs	p.A75fs	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	75						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGCTTTGGAGCCCCCCTGGTG	0.582													ENSG00000131379																																					0													87.0	86.0	86.0					3																	14724444		2203	4300	6503	SO:0001589	frameshift_variant	0				AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.224delC	3.37:g.14724444delC	ENSP00000253697:p.Ala75fs		Q7L0U6|Q8NCP2|Q9H0I7	Frame_Shift_Del	DEL	NULL	p.L77fs	ENST00000253697.3	37	c.224	CCDS33706.1	3																																																																																				C3orf20	-	NULL		0.582	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	0	0	0	38	38	63	0.00	0.00	C	NM_032137		14724444	+1	5	9	21	53	tier1	no_errors	ENST00000253697	ensembl	human	known	74_37	frame_shift_del	19.23	14.52	DEL	0.006	-	5	21
KIRREL	55243	genome.wustl.edu	37	1	158058203	158058203	+	Frame_Shift_Del	DEL	C	C	-	rs548707549		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:158058203delC	ENST00000359209.6	+	8	1070	c.1003delC	c.(1003-1005)cccfs	p.P336fs	KIRREL_ENST00000416935.2_Frame_Shift_Del_p.P236fs|KIRREL_ENST00000368172.1_Frame_Shift_Del_p.P134fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.P233fs|KIRREL_ENST00000368173.3_Frame_Shift_Del_p.P336fs|KIRREL_ENST00000360089.4_Frame_Shift_Del_p.P172fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	336	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGTTGGGAATCCCCCCCTCAC	0.453													ENSG00000183853																																					0													111.0	109.0	110.0					1																	158058203		2203	4300	6503	SO:0001589	frameshift_variant	0				AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1003delC	1.37:g.158058203delC	ENSP00000352138:p.Pro336fs		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L337fs	ENST00000359209.6	37	c.1003	CCDS1172.2	1																																																																																				KIRREL	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.453	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	0	0	0	109	109	71	0.00	0.00	C	NM_018240		158058203	+1	13	20	94	67	tier1	no_errors	ENST00000368173	ensembl	human	known	74_37	frame_shift_del	12.15	22.99	DEL	1.000	-	13	94
EXOC2	55770	genome.wustl.edu	37	6	637794	637794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:637794delG	ENST00000230449.4	-	2	160	c.25delC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CCGGTCACAAGGGGGGGTTGT	0.483													ENSG00000112685																																					1	Deletion - Frameshift(1)	ovary(1)											119.0	118.0	118.0					6																	637794		2203	4300	6503	SO:0001589	frameshift_variant	0				AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.25delC	6.37:g.637794delG	ENSP00000230449:p.Leu9fs		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Del	DEL	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.V10fs	ENST00000230449.4	37	c.25	CCDS34327.1	6																																																																																				EXOC2	-	pfam_IPT,superfamily_Ig_E-set		0.483	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	0	0	0	40	40	80	0.00	0.00	G	NM_018303		637794	-1	7	14	39	69	tier1	no_errors	ENST00000230449	ensembl	human	known	74_37	frame_shift_del	15.22	16.87	DEL	0.974	-	7	39
CDH10	1008	genome.wustl.edu	37	5	24488218	24488219	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:24488218_24488219insT	ENST00000264463.4	-	12	2427_2428	c.1920_1921insA	c.(1918-1923)aaagagfs	p.E641fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	641					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGCT	0.406										HNSCC(23;0.051)			ENSG00000040731																																					0																																										SO:0001589	frameshift_variant	0				AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1921dupA	5.37:g.24488225_24488225dupT	ENSP00000264463:p.Glu641fs		Q9ULB3	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E640fs	ENST00000264463.4	37	c.1921_1920	CCDS3892.1	5																																																																																				CDH10	-	pfam_Cadherin_cytoplasmic-dom		0.406	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	0	0	0	32	32	53	0.00	0.00	-	NM_006727		24488219	-1	8	19	43	55	tier1	no_errors	ENST00000264463	ensembl	human	known	74_37	frame_shift_ins	15.69	25.68	INS	1.000:1.000	T	8	43
COX16	51241	genome.wustl.edu	37	14	70793016	70793017	+	3'UTR	DEL	AA	AA	-	rs74353890|rs572419917	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:70793016_70793017delAA	ENST00000389912.6	-	0	497_498				SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						atttttatttaaaaaaaaaaaa	0.356													ENSG00000133983																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.*34TT>-	14.37:g.70793026_70793027delAA			A6NDT5|A8K3X8	R	DEL	-	NULL	ENST00000389912.6	37	NULL	CCDS9802.1	14																																																																																				COX16	-	-		0.356	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX16	HGNC	protein_coding	OTTHUMT00000412470.2	0	0	0	114	114	17	0.00	0.00	AA	NM_016468		70793017	-1	23	4	106	32	tier1	no_errors	ENST00000557612	ensembl	human	known	74_37	rna	17.83	11.11	DEL	0.002:0.001	-	23	106
EIF2AK3	9451	genome.wustl.edu	37	2	88885453	88885453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:88885453delA	ENST00000303236.3	-	9	1857	c.1556delT	c.(1555-1557)ttafs	p.L519fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.L368fs	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	519					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CCACCAGTGTAAAAGAAGAAC	0.413													ENSG00000172071																									GBM(138;671 1851 16235 39058 45249)												0													236.0	218.0	224.0					2																	88885453		2203	4300	6503	SO:0001589	frameshift_variant	0				AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.1556delT	2.37:g.88885453delA	ENSP00000307235:p.Leu519fs		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L519fs	ENST00000303236.3	37	c.1556	CCDS33241.1	2																																																																																				EIF2AK3	-	NULL		0.413	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EIF2AK3	HGNC	protein_coding	OTTHUMT00000338233.2	0	0	0	77	77	53	0.00	0.00	A	NM_004836		88885453	-1	38	30	70	77	tier1	no_errors	ENST00000303236	ensembl	human	known	74_37	frame_shift_del	35.19	28.04	DEL	1.000	-	38	70
PTHLH	5744	genome.wustl.edu	37	12	28114898	28114898	+	Intron	DEL	T	T	-	rs377014358		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:28114898delT	ENST00000545234.1	-	5	1065				RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_Intron|PTHLH_ENST00000354417.3_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000538310.1_Frame_Shift_Del_p.K186fs|PTHLH_ENST00000395872.1_Intron			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GTTGTTTTCCTTTTTTTTTTT	0.333													ENSG00000087494																																					0													16.0	16.0	16.0					12																	28114898		875	1991	2866	SO:0001627	intron_variant	0					CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.524+1382A>-	12.37:g.28114898delT			Q15251|Q6FH74	Frame_Shift_Del	DEL	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.K186fs	ENST00000545234.1	37	c.557	CCDS44853.1	12																																																																																				PTHLH	-	NULL		0.333	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1	0	0	0	25	25	17	0.00	0.00	T	NM_198965		28114898	-1	7	3	32	18	tier1	no_errors	ENST00000354417	ensembl	human	known	74_37	frame_shift_del	17.95	14.29	DEL	0.135	-	7	32
ARHGAP12	94134	genome.wustl.edu	37	10	32096466	32096466	+	3'UTR	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:32096466delA	ENST00000344936.2	-	0	2895				ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_3'UTR|ARHGAP12_ENST00000375250.5_3'UTR|ARHGAP12_ENST00000396144.4_3'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CTGATCCCTCAAAAAAAAAGT	0.368													ENSG00000165322																																					0																																										SO:0001624	3_prime_UTR_variant	0				AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.*120T>-	10.37:g.32096466delA			B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	R	DEL	-	NULL	ENST00000344936.2	37	NULL	CCDS7170.1	10																																																																																				ARHGAP12	-	-		0.368	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	0	0	0	53	53	58	0.00	0.00	A			32096466	-1	18	31	52	75	tier1	no_errors	ENST00000492028	ensembl	human	known	74_37	rna	25.71	29.25	DEL	0.771	-	18	52
LOC401281	401281	genome.wustl.edu	37	6	160010034	160010034	+	lincRNA	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:160010034delC	ENST00000430078.1	-	0	167																											AAGAACCACACCCCCCCAGGG	0.463													ENSG00000237927																																					0													11.0	11.0	11.0					6																	160010034		691	1591	2282			0																																6.37:g.160010034delC				R	DEL	-	NULL	ENST00000430078.1	37	NULL		6																																																																																				RP3-393E18.2	-	-		0.463	RP3-393E18.2-001	KNOWN	basic	lincRNA	FLJ27255	Clone_based_vega_gene	lincRNA	OTTHUMT00000280510.1	0	0	1	29	29	97	0.00	1.02	C			160010034	-1	8	38	20	81	tier1	no_errors	ENST00000430078	ensembl	human	known	74_37	rna	28.57	31.93	DEL	0.000	-	8	20
ING2	3622	genome.wustl.edu	37	4	184432081	184432081	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:184432081delA	ENST00000302327.3	+	2	1021	c.819delA	c.(817-819)acafs	p.T273fs	ING2_ENST00000434682.2_Frame_Shift_Del_p.T233fs	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	273	PBR.				chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTGAAAAGACAAAAAAGGATA	0.343													ENSG00000168556																																					0													62.0	59.0	60.0					4																	184432081		2203	4300	6503	SO:0001589	frameshift_variant	0				AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.819delA	4.37:g.184432081delA	ENSP00000307183:p.Thr273fs		B6ZDS1|O95698	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K275fs	ENST00000302327.3	37	c.819	CCDS3833.1	4																																																																																				ING2	-	NULL		0.343	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING2	HGNC	protein_coding	OTTHUMT00000318652.1	0	0	0	71	71	99	0.00	0.00	A	NM_001564		184432081	+1	18	37	61	76	tier1	no_errors	ENST00000302327	ensembl	human	known	74_37	frame_shift_del	22.78	32.74	DEL	1.000	-	18	61
ZNF563	147837	genome.wustl.edu	37	19	12430216	12430217	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:12430216_12430217insA	ENST00000293725.5	-	4	827_828	c.622_623insT	c.(622-624)tggfs	p.W208fs	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAACTGGGCCAAAAAAAAGCT	0.391													ENSG00000188868																									GBM(39;623 795 5132 29510 31476)												0																																										SO:0001589	frameshift_variant	0				BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.623dupT	19.37:g.12430224_12430224dupA	ENSP00000293725:p.Trp208fs		B2R9E7|Q8NAT7	Frame_Shift_Ins	INS	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.W208fs	ENST00000293725.5	37	c.623_622	CCDS12270.1	19																																																																																				ZNF563	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.391	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF563	HGNC	protein_coding	OTTHUMT00000344114.1	1	1	0	138	138	20	0.72	0.00	-	NM_145276		12430217	-1	15	3	118	25	tier1	no_errors	ENST00000293725	ensembl	human	known	74_37	frame_shift_ins	11.28	10.71	INS	0.001:0.004	A	15	118
ZNF341	84905	genome.wustl.edu	37	20	32378993	32378994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:32378993_32378994insC	ENST00000375200.1	+	15	2600_2601	c.2235_2236insC	c.(2236-2238)cccfs	p.P746fs	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Frame_Shift_Ins_p.P739fs|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	746					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AAACCCGGCGGCCCCCCCAGAG	0.668													ENSG00000131061																																					0										11,4169		0,11,2079						-1.4	1.0			22	12,8070		0,12,4029	no	frameshift	ZNF341	NM_032819.3		0,23,6108	A1A1,A1R,RR		0.1485,0.2632,0.1876				23,12239				SO:0001589	frameshift_variant	0				AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2242dupC	20.37:g.32379000_32379000dupC	ENSP00000364346:p.Pro746fs		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q747fs	ENST00000375200.1	37	c.2235_2236		20																																																																																				ZNF341	-	NULL		0.668	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		0	0	0	31	31	26	0.00	0.00	-			32378994	+1	8	4	22	26	tier1	no_errors	ENST00000375200	ensembl	human	known	74_37	frame_shift_ins	26.67	13.33	INS	0.964:0.979	C	8	22
PBRM1	55193	genome.wustl.edu	37	3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-	rs369874660		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:52678784delT	ENST00000296302.7	-	8	836	c.835delA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.358			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								ENSG00000163939																												Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)											41.0	41.0	41.0					3																	52678784		2200	4299	6499	SO:0001589	frameshift_variant	0				BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.835delA	3.37:g.52678784delT	ENSP00000296302:p.Ile279fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.I279fs	ENST00000296302.7	37	c.835		3																																																																																				PBRM1	-	superfamily_Bromodomain,smart_Bromodomain		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	0	0	0	162	162	43	0.00	0.00	T	NM_018165		52678784	-1	28	19	142	53	tier1	no_errors	ENST00000296302	ensembl	human	known	74_37	frame_shift_del	16.47	26.39	DEL	1.000	-	28	142
MPHOSPH9	10198	genome.wustl.edu	37	12	123706321	123706322	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123706321_123706322insA	ENST00000606320.1	-	5	675_676	c.469_470insT	c.(469-471)tctfs	p.S157fs	MPHOSPH9_ENST00000392425.3_Frame_Shift_Ins_p.S5fs|MPHOSPH9_ENST00000541076.2_Frame_Shift_Ins_p.S127fs|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Frame_Shift_Ins_p.S5fs			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	157						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S5C(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTGCTTAGAGAAAAAAAACCC	0.371													ENSG00000051825																																					1	Substitution - Missense(1)	lung(1)								0,4264		0,0,2132						5.9	0.8			74	6,8248		0,6,4121	no	frameshift	MPHOSPH9	NM_022782.2		0,6,6253	A1A1,A1R,RR		0.0727,0.0,0.0479				6,12512				SO:0001589	frameshift_variant	0				X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.470dupT	12.37:g.123706329_123706329dupA	ENSP00000475489:p.Ser157fs		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.S5fs	ENST00000606320.1	37	c.14_13		12																																																																																				MPHOSPH9	-	NULL		0.371	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	0	0	0	50	50	72	0.00	0.00	-			123706322	-1	16	13	47	47	tier1	no_errors	ENST00000392425	ensembl	human	known	74_37	frame_shift_ins	25.40	21.67	INS	0.995:0.977	A	16	47
DNAH9	1770	genome.wustl.edu	37	17	11837275	11837276	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:11837275_11837276delCT	ENST00000262442.4	+	65	12444_12445	c.12376_12377delCT	c.(12376-12378)ctcfs	p.L4126fs	DNAH9_ENST00000608377.1_Frame_Shift_Del_p.L438fs|DNAH9_ENST00000454412.2_Frame_Shift_Del_p.L4050fs|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4126					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACAGAAGACTCTGCAGAACC	0.495													ENSG00000007174																																					0																																										SO:0001589	frameshift_variant	0				U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12376_12377delCT	17.37:g.11837277_11837278delCT	ENSP00000262442:p.Leu4126fs		A2VCQ8|O15064|O95494|Q9NQ28	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C4127fs	ENST00000262442.4	37	c.12376_12377	CCDS11160.1	17																																																																																				DH9	-	pfam_Dynein_heavy_dom		0.495	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH9	HGNC	protein_coding	OTTHUMT00000252756.2	0	0	0	78	78	62	0.00	0.00	CT	NM_001372		11837276	+1	7	7	50	58	tier1	no_errors	ENST00000262442	ensembl	human	known	74_37	frame_shift_del	12.28	10.77	DEL	0.999:1.000	-	7	50
ZFP36L1	677	genome.wustl.edu	37	14	69256388	69256388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:69256388delG	ENST00000439696.2	-	2	1180	c.879delC	c.(877-879)cccfs	p.P293fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.P293fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	293					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGAGGGCTGGGGGGAGAGT	0.647											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000185650																																					0													59.0	69.0	66.0					14																	69256388		2203	4300	6503	SO:0001589	frameshift_variant	0				X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.879delC	14.37:g.69256388delG	ENSP00000388402:p.Pro293fs	1113	Q13851	Frame_Shift_Del	DEL	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.S294fs	ENST00000439696.2	37	c.879	CCDS9791.1	14																																																																																				ZFP36L1	-	NULL		0.647	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	0	0	0	45	45	38	0.00	0.00	G			69256388	-1	9	14	19	20	tier1	no_errors	ENST00000336440	ensembl	human	known	74_37	frame_shift_del	32.14	41.18	DEL	1.000	-	9	19
KRT222	125113	genome.wustl.edu	37	17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:38818272delT	ENST00000476049.1	-	2	162	c.121delA	c.(121-123)atgfs	p.M41fs	KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs			Q8N1A0	KT222_HUMAN	keratin 222	41						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTTGTCCATTTTTTTGCTT	0.428													ENSG00000213424																																					0													129.0	122.0	124.0					17																	38818272		2203	4300	6503	SO:0001589	frameshift_variant	0				AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.121delA	17.37:g.38818272delT	ENSP00000463483:p.Met41fs		Q7Z368	Frame_Shift_Del	DEL	pfam_IF,prints_Keratin_I	p.M41fs	ENST00000476049.1	37	c.121	CCDS11371.1	17																																																																																				KRT222	-	pfam_IF		0.428	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KRT222	HGNC	protein_coding	OTTHUMT00000447539.1	0	0	0	51	51	59	0.00	0.00	T	NM_152349		38818272	-1	9	8	46	42	tier1	no_errors	ENST00000394052	ensembl	human	known	74_37	frame_shift_del	16.36	16.00	DEL	1.000	-	9	46
AIM1	202	genome.wustl.edu	37	6	106960257	106960257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:106960257delG	ENST00000369066.3	+	1	528	c.41delG	c.(40-42)aggfs	p.R14fs		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGGAGGCGGAGGGGGTCGCAG	0.672													ENSG00000112297																																					0													16.0	20.0	18.0					6																	106960257		2191	4263	6454	SO:0001589	frameshift_variant	0				U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.41delG	6.37:g.106960257delG	ENSP00000358062:p.Arg14fs		Q6P2P0|Q9BTM3	Frame_Shift_Del	DEL	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S16fs	ENST00000369066.3	37	c.41	CCDS34506.1	6																																																																																				AIM1	-	NULL		0.672	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	0	0	0	55	55	16	0.00	0.00	G			106960257	+1	6	4	29	11	tier1	no_errors	ENST00000369066	ensembl	human	known	74_37	frame_shift_del	17.14	26.67	DEL	1.000	-	6	29
SMARCA1	6594	genome.wustl.edu	37	X	128582345	128582346	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:128582345_128582346delCT	ENST00000371122.4	-	24	3234_3235	c.3105_3106delAG	c.(3103-3108)agagcafs	p.RA1035fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.RA1023fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.RA1023fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1035					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTTTCTGCTCTCTCTCTTT	0.312													ENSG00000102038																																					0																																										SO:0001589	frameshift_variant	0				M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3105_3106delAG	X.37:g.128582353_128582354delCT	ENSP00000360163:p.Arg1035fs		Q5JV41|Q5JV42	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1035fs	ENST00000371122.4	37	c.3106_3105	CCDS14612.1	X																																																																																				SMARCA1	-	superfamily_Homeodomain-like		0.312	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	0	0	0	42	42	18	0.00	0.00	CT	NM_003069		128582346	-1	11	9	64	56	tier1	no_errors	ENST00000371122	ensembl	human	known	74_37	frame_shift_del	14.67	13.85	DEL	1.000:1.000	-	11	64
CTNNA2	1496	genome.wustl.edu	37	2	80540733	80540733	+	Intron	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:80540733delA	ENST00000402739.4	+	7	1061				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000343114.3_Frame_Shift_Del_p.E16fs|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						aaagtctgtgaaaaaaatatg	0.443													ENSG00000066032																																					0													42.0	37.0	39.0					2																	80540733		876	1991	2867	SO:0001627	intron_variant	0					CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1057-79603A>-	2.37:g.80540733delA			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Frame_Shift_Del	DEL	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.N18fs	ENST00000402739.4	37	c.47		2																																																																																				CTN2	-	NULL		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTN2	HGNC	protein_coding	OTTHUMT00000328511.4	0	0	0	92	92	38	0.00	0.00	A	NM_004389		80540733	+1	18	8	76	68	tier1	no_errors	ENST00000343114	ensembl	human	putative	74_37	frame_shift_del	19.15	10.53	DEL	0.000	-	18	76
KCNQ3	3786	genome.wustl.edu	37	8	133150233	133150233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:133150233delT	ENST00000388996.4	-	12	2019	c.1599delA	c.(1597-1599)aaafs	p.K533fs	KCNQ3_ENST00000519445.1_Frame_Shift_Del_p.K533fs|KCNQ3_ENST00000521134.1_Frame_Shift_Del_p.K413fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCCTTGAATTTTTTTTTAT	0.453													ENSG00000184156																																					0													103.0	101.0	102.0					8																	133150233		2203	4300	6503	SO:0001589	frameshift_variant	0				AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1599delA	8.37:g.133150233delT	ENSP00000373648:p.Lys533fs		A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K533fs	ENST00000388996.4	37	c.1599	CCDS34943.1	8																																																																																				KCNQ3	-	pfam_K_chnl_volt-dep_KCNQ_C		0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	0	0	0	52	52	54	0.00	0.00	T	NM_004519		133150233	-1	8	7	45	54	tier1	no_errors	ENST00000388996	ensembl	human	known	74_37	frame_shift_del	15.09	11.48	DEL	0.715	-	8	45
SCAPER	49855	genome.wustl.edu	37	15	76958035	76958036	+	Frame_Shift_Ins	INS	-	-	T	rs59982422		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:76958035_76958036insT	ENST00000563290.1	-	21	2698_2699	c.2603_2604insA	c.(2602-2604)aatfs	p.N868fs	SCAPER_ENST00000324767.7_Frame_Shift_Ins_p.N868fs|SCAPER_ENST00000538941.2_Frame_Shift_Ins_p.N622fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	868						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTTTTTTTTTATTTTTTTGCCG	0.347													ENSG00000140386																																					0																																										SO:0001589	frameshift_variant	0				AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2604dupA	15.37:g.76958042_76958042dupT	ENSP00000454973:p.Asn868fs		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Ins	INS	smart_Znf_U1	p.N868fs	ENST00000563290.1	37	c.2604_2603	CCDS53962.1	15																																																																																				SCAPER	-	NULL		0.347	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	0	0	0	55	55	10	0.00	0.00	-	NM_020843		76958036	-1	14	7	46	28	tier1	no_errors	ENST00000324767	ensembl	human	known	74_37	frame_shift_ins	23.33	20.00	INS	0.445:0.968	T	14	46
LACTB	114294	genome.wustl.edu	37	15	63419132	63419133	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:63419132_63419133delAA	ENST00000261893.4	+	3	571_572	c.499_500delAA	c.(499-501)aaafs	p.K167fs	LACTB_ENST00000413507.2_Frame_Shift_Del_p.K167fs|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	167						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TAGCATCAGCAAAAGTCTCACC	0.416													ENSG00000103642																									Melanoma(85;443 1381 6215 27308 35583)												0																																										SO:0001589	frameshift_variant	0				AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.499_500delAA	15.37:g.63419134_63419135delAA	ENSP00000261893:p.Lys167fs		P83096	Frame_Shift_Del	DEL	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.L169fs	ENST00000261893.4	37	c.499_500	CCDS10182.1	15																																																																																				LACTB	-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like		0.416	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	0	0	0	88	88	69	0.00	0.00	AA	NM_032857		63419133	+1	20	36	56	59	tier1	no_errors	ENST00000261893	ensembl	human	known	74_37	frame_shift_del	26.32	37.89	DEL	1.000:1.000	-	20	56
ENTPD1	953	genome.wustl.edu	37	10	97515948	97515949	+	5'UTR	INS	-	-	G	rs149930011|rs573641366|rs200451742	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:97515948_97515949insG	ENST00000371205.4	+	0	235_236				ENTPD1_ENST00000453258.2_Intron|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000371207.3_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000371203.5_5'UTR			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGCAGAGGCTGGGGGGGGGAA	0.495													ENSG00000226688	?|GGGGGGGGG|GGGGGGGGGG|unsure	212	0.0423323	0.0242	0.0548	5008	,	,		18516	0.0456		0.0398	False		,,,				2504	0.0573																0																																										SO:0001623	5_prime_UTR_variant	0				S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.-48->G	10.37:g.97515957_97515957dupG			A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	R	INS	-	NULL	ENST00000371205.4	37	NULL	CCDS7444.1	10																																																																																				ENTPD1-AS1	-	-		0.495	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1-AS1	HGNC	protein_coding	OTTHUMT00000049566.1	0	0	0	133	133	38	0.00	0.00	-	NM_001776		97515949	-1	17	6	115	26	tier1	no_errors	ENST00000416301	ensembl	human	known	74_37	rna	12.88	18.75	INS	0.969:0.906	G	17	115
AMOT	154796	genome.wustl.edu	37	X	112023991	112023991	+	Intron	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:112023991delA	ENST00000524145.1	-	10	2548				MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Intron|AMOT_ENST00000371962.1_Intron|AMOT_ENST00000371958.1_3'UTR|AMOT_ENST00000304758.1_Intron			Q4VCS5	AMOT_HUMAN	angiomotin						actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAAAAACTCCAAAACCCTGGT	0.473													ENSG00000263351																																					0																																										SO:0001627	intron_variant	0				AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2473+122T>-	X.37:g.112023991delA			Q504X5|Q9HD27|Q9UPT1	R	DEL	-	NULL	ENST00000524145.1	37	NULL	CCDS48154.1	X																																																																																				MIR4329	-	-		0.473	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR4329	HGNC	protein_coding	OTTHUMT00000378570.1	0	0	0	42	42	51	0.00	0.00	A	NM_133265		112023991	-1	17	18	52	52	tier1	no_errors	ENST00000582643	ensembl	human	known	74_37	rna	24.64	25.71	DEL	0.000	-	17	52
COPZ2	51226	genome.wustl.edu	37	17	46103622	46103623	+	5'UTR	DEL	CT	CT	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:46103622_46103623delCT	ENST00000584666.1	-	0	804_805				COPZ2_ENST00000006101.4_3'UTR			Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						GAAAAGGTGACTCTCCTGAGGC	0.554											OREG0024510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000005243																																					0																																										SO:0001623	5_prime_UTR_variant	0				AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000584666.1:c.-87AG>-	17.37:g.46103624_46103625delCT		936		R	DEL	-	NULL	ENST00000584666.1	37	NULL		17																																																																																				COPZ2	-	-		0.554	COPZ2-001	KNOWN	basic	processed_transcript	COPZ2	HGNC	protein_coding	OTTHUMT00000442953.1	0	0	0	15	15	80	0.00	0.00	CT	NM_016429		46103623	-1	5	46	14	61	tier1	no_errors	ENST00000582553	ensembl	human	known	74_37	rna	26.32	42.99	DEL	0.004:0.000	-	5	14
PTBP1	5725	genome.wustl.edu	37	19	803599	803600	+	Frame_Shift_Ins	INS	-	-	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	G	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:803599_803600insG	ENST00000349038.4	+	3	151_152	c.78_79insG	c.(79-81)ggafs	p.G27fs	PTBP1_ENST00000394601.4_Frame_Shift_Ins_p.G27fs|PTBP1_ENST00000356948.6_Frame_Shift_Ins_p.G27fs|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	27					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCACTAACGGACCGTTTAT	0.584													ENSG00000011304																																					0																																										SO:0001589	frameshift_variant	0				X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.80dupG	19.37:g.803601_803601dupG	ENSP00000014112:p.Gly27fs		Q9BUQ0	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P27fs	ENST00000349038.4	37	c.78_79	CCDS32859.1	19																																																																																				PTBP1	-	NULL		0.584	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	0	0	0	53	53	61	0.00	0.00	-			803600	+1	7	19	14	40	tier1	no_errors	ENST00000356948	ensembl	human	known	74_37	frame_shift_ins	33.33	32.20	INS	1.000:1.000	G	7	14
KBTBD6	89890	genome.wustl.edu	37	13	41704810	41704811	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:41704810_41704811insA	ENST00000379485.1	-	1	2071_2072	c.1837_1838insT	c.(1837-1839)tgcfs	p.C613fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.C547fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	613										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGAGAGGCAAAAAAAGTTA	0.416													ENSG00000165572																																					0																																										SO:0001589	frameshift_variant	0				AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1838dupT	13.37:g.41704817_41704817dupA	ENSP00000368799:p.Cys613fs		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.C613fs	ENST00000379485.1	37	c.1838_1837	CCDS9376.1	13																																																																																				KBTBD6	-	NULL		0.416	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	0	0	0	77	77	59	0.00	0.00	-	NM_152903		41704811	-1	12	13	42	55	tier1	no_errors	ENST00000379485	ensembl	human	known	74_37	frame_shift_ins	22.22	19.12	INS	1.000:0.865	A	12	42
PROX1	5629	genome.wustl.edu	37	1	214178556	214178556	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:214178556delT	ENST00000366958.4	+	3	2382	c.1774delT	c.(1774-1776)tttfs	p.F593fs	PROX1_ENST00000498508.2_Frame_Shift_Del_p.F593fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.F593fs|PROX1_ENST00000261454.4_Frame_Shift_Del_p.F593fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	593					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAAGCTCATGTTTTTTTATAC	0.383													ENSG00000117707																																					0													120.0	120.0	120.0					1																	214178556		2203	4300	6503	SO:0001589	frameshift_variant	0				U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1774delT	1.37:g.214178556delT	ENSP00000355925:p.Phe593fs		A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.Y594fs	ENST00000366958.4	37	c.1774	CCDS31021.1	1																																																																																				PROX1	-	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like		0.383	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	0	0	0	80	80	38	0.00	0.00	T	NM_002763		214178556	+1	41	18	76	72	tier1	no_errors	ENST00000261454	ensembl	human	known	74_37	frame_shift_del	35.04	20.00	DEL	1.000	-	41	76
KIAA0556	23247	genome.wustl.edu	37	16	27732932	27732933	+	Frame_Shift_Ins	INS	-	-	T	rs372956161|rs146755387		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:27732932_27732933insT	ENST00000261588.4	+	14	1678_1679	c.1659_1660insT	c.(1660-1662)tttfs	p.F554fs	Y_RNA_ENST00000364501.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	554						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CACTCCAGCTGTTTTTTGTTAT	0.52													ENSG00000047578																																					0																																										SO:0001589	frameshift_variant	0				AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1665dupT	16.37:g.27732938_27732938dupT	ENSP00000261588:p.Phe554fs		A7E2C2	Frame_Shift_Ins	INS	superfamily_Thaumatin	p.V555fs	ENST00000261588.4	37	c.1659_1660	CCDS32415.1	16																																																																																				KIAA0556	-	NULL		0.520	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	0	0	0	60	60	56	0.00	0.00	-	NM_015202		27732933	+1	27	31	57	60	tier1	no_errors	ENST00000261588	ensembl	human	known	74_37	frame_shift_ins	32.14	34.07	INS	0.910:0.729	T	27	57
CC2D2B	387707	genome.wustl.edu	37	10	97778823	97778824	+	Intron	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:97778823_97778824insA	ENST00000344386.3	+	7	686				CC2D2B_ENST00000410012.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ctcagcctcccaaagagccggg	0.376													ENSG00000226688																																					0																																										SO:0001627	intron_variant	0				BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.523-136->A	10.37:g.97778826_97778826dupA			A2A3E9|B4DYD4|E9PCC3|Q5VUS0	R	INS	-	NULL	ENST00000344386.3	37	NULL	CCDS41555.1	10																																																																																				ENTPD1-AS1	-	-		0.376	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENTPD1-AS1	HGNC	protein_coding	OTTHUMT00000049573.3	0	0	0	39	39	50	0.00	0.00	-	NM_001001732		97778824	-1	7	8	36	23	tier1	no_errors	ENST00000458228	ensembl	human	known	74_37	rna	16.28	25.81	INS	0.508:0.420	A	7	36
HYDIN	54768	genome.wustl.edu	37	16	70866948	70866949	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:70866948_70866949insT	ENST00000393567.2	-	80	13851_13852	c.13701_13702insA	c.(13699-13704)aaatttfs	p.F4568fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4568					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAGGCTCAAATTTTTTGATGT	0.411													ENSG00000157423																																					0																																										SO:0001589	frameshift_variant	0				AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13702dupA	16.37:g.70866954_70866954dupT	ENSP00000377197:p.Phe4568fs		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	superfamily_P-loop_NTPase,superfamily_PapD-like	p.F4567fs	ENST00000393567.2	37	c.13702_13701	CCDS59269.1	16																																																																																				HYDIN	-	NULL		0.411	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	0	0	0	58	58	50	0.00	0.00	-			70866949	-1	31	23	73	47	tier1	no_errors	ENST00000393567	ensembl	human	putative	74_37	frame_shift_ins	29.81	32.86	INS	0.004:0.002	T	31	73
USP34	9736	genome.wustl.edu	37	2	61505330	61505330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:61505330delT	ENST00000398571.2	-	41	5479	c.5403delA	c.(5401-5403)aaafs	p.K1801fs		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1801					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAAAGGGTGGTTTGTGTTTAA	0.343													ENSG00000115464																																					0													95.0	83.0	87.0					2																	61505330		1865	4099	5964	SO:0001589	frameshift_variant	0				AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5403delA	2.37:g.61505330delT	ENSP00000381577:p.Lys1801fs		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.K1801fs	ENST00000398571.2	37	c.5403	CCDS42686.1	2																																																																																				USP34	-	NULL		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	0	0	0	49	49	80	0.00	0.00	T			61505330	-1	10	10	49	74	tier1	no_errors	ENST00000398571	ensembl	human	known	74_37	frame_shift_del	16.95	11.90	DEL	0.996	-	10	49
ATP8A1	10396	genome.wustl.edu	37	4	42627651	42627652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr4:42627651_42627652insA	ENST00000381668.5	-	3	474_475	c.243_244insT	c.(241-246)tttctcfs	p.L82fs	ATP8A1_ENST00000510289.1_3'UTR|ATP8A1_ENST00000264449.10_Frame_Shift_Ins_p.L82fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	82					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCAATAAAGAGAAAAAATGAAT	0.361													ENSG00000124406																																					0																																										SO:0001589	frameshift_variant	0				AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.244dupT	4.37:g.42627657_42627657dupA	ENSP00000371084:p.Leu82fs		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L81fs	ENST00000381668.5	37	c.244_243	CCDS3466.1	4																																																																																				ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transp		0.361	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	0	0	0	114	114	36	0.00	0.00	-	NM_006095		42627652	-1	14	9	111	81	tier1	no_errors	ENST00000381668	ensembl	human	known	74_37	frame_shift_ins	11.20	10.00	INS	1.000:1.000	A	14	111
EDA2R	60401	genome.wustl.edu	37	X	65819393	65819393	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:65819393delC	ENST00000374719.3	-	6	883	c.827delG	c.(826-828)ggafs	p.G276fs	EDA2R_ENST00000456230.2_Frame_Shift_Del_p.G276fs|EDA2R_ENST00000253392.5_Frame_Shift_Del_p.G297fs|EDA2R_ENST00000451436.2_Frame_Shift_Del_p.G152fs|EDA2R_ENST00000450752.1_Frame_Shift_Del_p.G297fs|EDA2R_ENST00000396050.1_Frame_Shift_Del_p.G276fs	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	276					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GACTGTGTTTCCCCCCAAGGT	0.542													ENSG00000131080																																					0													30.0	26.0	28.0					X																	65819393		2200	4299	6499	SO:0001589	frameshift_variant	0				AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.827delG	X.37:g.65819393delC	ENSP00000363851:p.Gly276fs		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Frame_Shift_Del	DEL	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27	p.G297fs	ENST00000374719.3	37	c.890	CCDS14386.1	X																																																																																				EDA2R	-	NULL		0.542	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	0	0	0	8	8	43	0.00	0.00	C	NM_021783		65819393	-1	10	13	31	55	tier1	no_errors	ENST00000253392	ensembl	human	known	74_37	frame_shift_del	24.39	19.12	DEL	0.000	-	10	31
ITSN2	50618	genome.wustl.edu	37	2	24484029	24484029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:24484029delT	ENST00000355123.4	-	22	3071	c.2628delA	c.(2626-2628)aaafs	p.K876fs	ITSN2_ENST00000406921.3_Frame_Shift_Del_p.K876fs|ITSN2_ENST00000361999.3_Frame_Shift_Del_p.K849fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	876					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGGCTGATTTTTTCTGCC	0.368													ENSG00000198399																																					0													135.0	126.0	129.0					2																	24484029		2203	4300	6503	SO:0001589	frameshift_variant	0				AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2628delA	2.37:g.24484029delT	ENSP00000347244:p.Lys876fs		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.K876fs	ENST00000355123.4	37	c.2628	CCDS1710.2	2																																																																																				ITSN2	-	superfamily_SH3_domain		0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	0	0	0	53	53	48	0.00	0.00	T	NM_006277		24484029	-1	24	47	49	63	tier1	no_errors	ENST00000355123	ensembl	human	known	74_37	frame_shift_del	32.88	42.73	DEL	0.997	-	24	49
UBE3A	7337	genome.wustl.edu	37	15	25601107	25601108	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:25601107_25601108insA	ENST00000397954.2	-	7	2063_2064	c.2064_2065insT	c.(2062-2067)tttggtfs	p.G689fs	UBE3A_ENST00000566215.1_Frame_Shift_Ins_p.G666fs|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Frame_Shift_Ins_p.G666fs|UBE3A_ENST00000428984.2_Frame_Shift_Ins_p.G666fs|UBE3A_ENST00000232165.3_Frame_Shift_Ins_p.G686fs			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	689					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATTGGGTTACCAAAAAGATCTG	0.322													ENSG00000114062																																					0																																										SO:0001589	frameshift_variant	0				AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2065dupT	15.37:g.25601112_25601112dupA	ENSP00000381045:p.Gly689fs		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.G688fs	ENST00000397954.2	37	c.2065_2064	CCDS45192.1	15																																																																																				UBE3A	-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT		0.322	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	0	0	0	58	58	57	0.00	0.00	-	NM_000462		25601108	-1	26	28	46	57	tier1	no_errors	ENST00000397954	ensembl	human	known	74_37	frame_shift_ins	36.11	32.94	INS	1.000:1.000	A	26	46
KRTAP25-1	100131902	genome.wustl.edu	37	21	31661763	31661763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr21:31661763delG	ENST00000416044.1	-	1	69	c.46delC	c.(46-48)caafs	p.Q16fs		NM_001128598.1	NP_001122070.1	Q3LHN0	KR251_HUMAN	keratin associated protein 25-1	16						intermediate filament (GO:0005882)				breast(1)	1						ACATGGTTTTGGGGGTGGCAA	0.403													ENSG00000232263																																					0													85.0	82.0	83.0					21																	31661763		692	1590	2282	SO:0001589	frameshift_variant	0					CCDS46640.1	21q22.1	2010-10-18	2008-02-26	2008-04-22	ENSG00000232263	ENSG00000232263		"""Keratin associated proteins"""	34003	protein-coding gene	gene with protein product							Standard	NM_001128598		Approved	KAP25.1	uc010glr.1	Q3LHN0	OTTHUMG00000125482	ENST00000416044.1:c.46delC	21.37:g.31661763delG	ENSP00000398619:p.Gln16fs			Frame_Shift_Del	DEL	pfam_KRTAP_PMG	p.Q16fs	ENST00000416044.1	37	c.46	CCDS46640.1	21																																																																																				KRTAP25-1	-	NULL		0.403	KRTAP25-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP25-1	HGNC	protein_coding	OTTHUMT00000246805.1	0	0	0	62	62	52	0.00	0.00	G	NM_001128598		31661763	-1	24	22	59	90	tier1	no_errors	ENST00000416044	ensembl	human	known	74_37	frame_shift_del	28.92	19.64	DEL	0.000	-	24	59
ZYX	7791	genome.wustl.edu	37	7	143087646	143087647	+	Intron	INS	-	-	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:143087646_143087647insC	ENST00000322764.5	+	10	1959				ZYX_ENST00000449423.2_Intron|ZYX_ENST00000392910.2_Intron|EPHA1_ENST00000458129.1_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CCGGTCCAGTGCCCCTCACCCT	0.594													ENSG00000146904																																					0																																										SO:0001627	intron_variant	0				X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1615-24->C	7.37:g.143087650_143087650dupC			A4D2G6|Q6I9S4	R	INS	-	NULL	ENST00000322764.5	37	NULL	CCDS5883.1	7																																																																																				EPHA1	-	-		0.594	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000156296.2	0	0	0	38	38	41	0.00	0.00	-	NM_003461		143087647	-1	8	8	33	52	tier1	no_errors	ENST00000458129	ensembl	human	putative	74_37	rna	19.51	13.33	INS	0.006:0.006	C	8	33
FRMPD3	84443	genome.wustl.edu	37	X	106793287	106793289	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	GAA	GAA	GAA	-	GAA	GAA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:106793287_106793289delGAA	ENST00000276185.4	+	7	510_512	c.510_512delGAA	c.(508-513)atgaag>atg	p.K172del	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	172						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						AGAAAATGATGAAGAAGGAAGCT	0.448													ENSG00000147234																																					0																																										SO:0001651	inframe_deletion	0				AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.510_512delGAA	X.37:g.106793290_106793292delGAA	ENSP00000276185:p.Lys172del		Q96JK8	In_Frame_Del	DEL	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.K172in_frame_del	ENST00000276185.4	37	c.510_512		X																																																																																				FRMPD3	-	NULL		0.448	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		0	0	0	11	11	21	0.00	0.00	GAA	XM_042978		106793289	+1	17	23	28	33	tier1	no_errors	ENST00000276185	ensembl	human	known	74_37	in_frame_del	37.78	41.07	DEL	1.000:1.000:1.000	-	17	28
RANBP10	57610	genome.wustl.edu	37	16	67765377	67765380	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	TGTC	TGTC	TGTC	-	TGTC	TGTC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:67765377_67765380delTGTC	ENST00000317506.3	-	7	999_1002	c.884_887delGACA	c.(883-888)agacaafs	p.RQ295fs	RANBP10_ENST00000411657.2_Frame_Shift_Del_p.RQ178fs|RANBP10_ENST00000425512.2_Frame_Shift_Del_p.RQ163fs|RANBP10_ENST00000536251.1_Frame_Shift_Del_p.RQ66fs|RANBP10_ENST00000448631.2_Frame_Shift_Del_p.RQ239fs|RANBP10_ENST00000602677.1_Frame_Shift_Del_p.RQ295fs	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	295	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.Q296P(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AACCTTACTTTGTCTGTTCTTTAT	0.485													ENSG00000141084																																					1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0				AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.884_887delGACA	16.37:g.67765377_67765380delTGTC	ENSP00000316589:p.Arg295fs		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R295fs	ENST00000317506.3	37	c.887_884	CCDS32469.1	16																																																																																				RANBP10	-	smart_CTLH_C,pfscan_CTLH_C		0.485	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	0	0	0	89	89	105	0.00	0.00	TGTC	NM_020850		67765380	-1	39	42	49	115	tier1	no_errors	ENST00000317506	ensembl	human	known	74_37	frame_shift_del	44.32	26.75	DEL	1.000:1.000:1.000:1.000	-	39	49
RICTOR	253260	genome.wustl.edu	37	5	38954826	38954826	+	5'UTR	DEL	T	T	-	rs190666602	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:38954826delT	ENST00000503698.1	-	0	754				RICTOR_ENST00000296782.5_Intron|RICTOR_ENST00000357387.3_Intron					RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAAGATTTTGTTTTTTTTTTA	0.274													ENSG00000164327																																					0										610,31,4,3621		43,0,0,524,4,0,23,0,4,1535	48.0	49.0	49.0			-2.5	0.0	5	dbSNP_130	49	132,49,2,8069		1,0,0,130,2,0,45,0,2,3946	no	intron	RICTOR	NM_152756.3		44,0,0,654,6,0,68,0,6,5481	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.2176,15.1195,6.6145			38954826	742,80,6,11690	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0					CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000503698.1:c.-26A>-	5.37:g.38954826delT				R	DEL	-	NULL	ENST00000503698.1	37	NULL		5																																																																																				RICTOR	-	-		0.274	RICTOR-009	KNOWN	basic	processed_transcript	RICTOR	HGNC	protein_coding	OTTHUMT00000366993.1	0	0	0	22	22	29	0.00	0.00	T	NM_152756		38954826	-1	12	24	22	45	tier1	no_errors	ENST00000503698	ensembl	human	known	74_37	rna	35.29	34.78	DEL	0.000	-	12	22
ATF6B	1388	genome.wustl.edu	37	6	32093827	32093828	+	Intron	INS	-	-	AC			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	AC	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:32093827_32093828insAC	ENST00000375203.3	-	5	511				ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Intron	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTACACACATACACACACACA	0.515													ENSG00000213676																																					0																																										SO:0001627	intron_variant	0					CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.478+65->GT	6.37:g.32093836_32093837dupAC			B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	R	INS	-	NULL	ENST00000375203.3	37	NULL	CCDS4737.1	6																																																																																				ATF6B	-	-		0.515	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2	0	0	0	27	27	32	0.00	0.00	-			32093828	-1	7	18	26	51	tier1	no_errors	ENST00000468502	ensembl	human	known	74_37	rna	21.21	26.09	INS	0.000:0.000	AC	7	26
FAS	355	genome.wustl.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368													ENSG00000026103																																					0													338.0	365.0	356.0					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	0				M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.C135fs	ENST00000355279.2	37	c.397	CCDS7395.1	10																																																																																				FAS	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt		0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049280.2	0	0	0	83	83	67	0.00	0.00	T			90768708	+1	10	17	81	86	tier1	no_errors	ENST00000355740	ensembl	human	known	74_37	frame_shift_del	10.99	16.50	DEL	0.881	-	10	81
SPTY2D1	144108	genome.wustl.edu	37	11	18638500	18638501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:18638500_18638501insT	ENST00000336349.5	-	2	331_332	c.96_97insA	c.(94-99)aaagacfs	p.D33fs	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	33										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						ACTTTTGGGTCTTTTTTTGGAG	0.347													ENSG00000179119																																					0																																										SO:0001589	frameshift_variant	0				BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.97dupA	11.37:g.18638507_18638507dupT	ENSP00000337991:p.Asp33fs		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Ins	INS	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.D32fs	ENST00000336349.5	37	c.97_96	CCDS31441.1	11																																																																																				SPTY2D1	-	NULL		0.347	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	0	0	0	72	72	74	0.00	0.00	-	NM_194285		18638501	-1	13	12	75	108	tier1	no_errors	ENST00000336349	ensembl	human	known	74_37	frame_shift_ins	14.77	10.00	INS	1.000:1.000	T	13	75
ARID2	196528	genome.wustl.edu	37	12	46245627	46245627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:46245627delA	ENST00000334344.6	+	15	3893	c.3721delA	c.(3721-3723)aaafs	p.K1241fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.K851fs|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1092fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1241					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAAAGGTGATAAAATAATTTG	0.463			"""N, S, F"""		hepatocellular carcinoma								ENSG00000189079																												Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													66.0	62.0	63.0					12																	46245627		2203	4300	6503	SO:0001589	frameshift_variant	0					CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3721delA	12.37:g.46245627delA	ENSP00000335044:p.Lys1241fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	pfam_ARID/BRIGHT_D-bd,pfam_D-bd_RFX,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd	p.I1242fs	ENST00000334344.6	37	c.3721	CCDS31783.1	12																																																																																				ARID2	-	NULL		0.463	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	0	0	0	37	37	68	0.00	0.00	A	XM_350875		46245627	+1	10	13	44	70	tier1	no_errors	ENST00000334344	ensembl	human	known	74_37	frame_shift_del	18.52	15.66	DEL	1.000	-	10	44
ERF	2077	genome.wustl.edu	37	19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:42753368delC	ENST00000222329.4	-	4	1053	c.896delG	c.(895-897)ggafs	p.G300fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Frame_Shift_Del_p.G225fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	300					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677													ENSG00000105722																																					0													36.0	40.0	39.0					19																	42753368		2201	4297	6498	SO:0001589	frameshift_variant	0				U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.896delG	19.37:g.42753368delC	ENSP00000222329:p.Gly300fs		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G299fs	ENST00000222329.4	37	c.896	CCDS12600.1	19																																																																																				ERF	-	NULL		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1	0	0	0	52	52	59	0.00	0.00	C	NM_006494		42753368	-1	9	7	41	28	tier1	no_errors	ENST00000222329	ensembl	human	known	74_37	frame_shift_del	18.00	20.00	DEL	0.941	-	9	41
ANKS3	124401	genome.wustl.edu	37	16	4780042	4780042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:4780042delG	ENST00000304283.4	-	3	403	c.109delC	c.(109-111)ctgfs	p.L37fs	ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000592711.1_Frame_Shift_Del_p.L37fs|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	37										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGAAGATCCAGGGGGACATCC	0.582													ENSG00000168096																																					0													144.0	125.0	131.0					16																	4780042		2197	4300	6497	SO:0001589	frameshift_variant	0				AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.109delC	16.37:g.4780042delG	ENSP00000304586:p.Leu37fs		B4DWU4|D3DUE2|Q8TF25	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.L37fs	ENST00000304283.4	37	c.109	CCDS10520.1	16																																																																																				ANKS3	-	smart_Ankyrin_rpt		0.582	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	0	0	0	29	29	46	0.00	0.00	G	NM_133450		4780042	-1	13	17	8	38	tier1	no_errors	ENST00000304283	ensembl	human	known	74_37	frame_shift_del	61.90	30.91	DEL	0.948	-	13	8
SEC16B	89866	genome.wustl.edu	37	1	177927333	177927333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:177927333delG	ENST00000308284.6	-	10	1388	c.1299delC	c.(1297-1299)cccfs	p.P433fs	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Frame_Shift_Del_p.P434fs	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	433					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTCCACACTGGGGGGGATCT	0.567													ENSG00000120341																																					0													34.0	37.0	36.0					1																	177927333		1945	4142	6087	SO:0001589	frameshift_variant	0				AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1299delC	1.37:g.177927333delG	ENSP00000308339:p.Pro433fs		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL	NULL	p.S434fs	ENST00000308284.6	37	c.1299	CCDS44281.1	1																																																																																				SEC16B	-	NULL		0.567	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	0	0	0	37	37	37	0.00	0.00	G	NM_033127		177927333	-1	4	9	16	47	tier1	no_errors	ENST00000308284	ensembl	human	known	74_37	frame_shift_del	20.00	16.07	DEL	0.033	-	4	16
ARHGAP33	115703	genome.wustl.edu	37	19	36276164	36276164	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:36276164C>T	ENST00000007510.4	+	18	1939	c.1795C>T	c.(1795-1797)Cgg>Tgg	p.R599W	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R463W|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R599W			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	599					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TGCACTGGGCCGGGGCCCCAG	0.677													ENSG00000004777																																					0													30.0	39.0	36.0					19																	36276164		2198	4279	6477	SO:0001583	missense	0			-	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1795C>T	19.37:g.36276164C>T	ENSP00000007510:p.Arg599Trp		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R599W	ENST00000007510.4	37	c.1795		19	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724124	0.68959	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12255	3.02;2.7;3.06	4.34	3.25	0.37280	.	0.090419	0.42420	D	0.000720	T	0.24431	0.0592	L	0.39898	1.24	0.33816	D	0.628468	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.96;0.992;0.953	T	0.17992	-1.0351	10	0.87932	D	0	.	9.2736	0.37686	0.3838:0.6162:0.0:0.0	.	599;463;599	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	W	599;599;463	ENSP00000007510:R599W;ENSP00000320038:R599W;ENSP00000368227:R463W	ENSP00000007510:R599W	R	+	1	2	ARHGAP33	40968004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.279000	0.33191	2.269000	0.75478	0.462000	0.41574	CGG	-	ARHGAP33	-	NULL		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		0	0	0	134	134	8	0.00	0.00	C	NM_052948		36276164	+1	40	2	84	8	tier1	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	32.26	20.00	SNP	1.000	T	40	84
ARHGEF10L	55160	genome.wustl.edu	37	1	17953982	17953982	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:17953982G>A	ENST00000361221.3	+	15	1727	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R231H|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R484H|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R301H|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R484H|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.R281H|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R523H	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	523						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTCAGTGACCGCAGCAGCCTC	0.662													ENSG00000074964																																					0													42.0	34.0	37.0					1																	17953982		2202	4300	6502	SO:0001583	missense	0			-	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1568G>A	1.37:g.17953982G>A	ENSP00000355060:p.Arg523His		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.R523H	ENST00000361221.3	37	c.1568	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022586	0.54683	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.62105	0.37;0.4;0.22;0.4;0.05;0.14;2.35	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.63843	1.955	0.45284	D	0.998289	P;B;D;D;P;D;D;D	0.63046	0.936;0.426;0.982;0.992;0.936;0.962;0.992;0.975	B;B;P;P;B;P;P;P	0.56278	0.197;0.071;0.758;0.795;0.286;0.479;0.678;0.629	T	0.73569	-0.3941	10	0.48119	T	0.1	-29.7431	16.8475	0.85985	0.0:0.0:1.0:0.0	.	301;281;523;231;289;484;484;523	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	H	523;484;523;484;281;301;301;231	ENSP00000355060:R523H;ENSP00000399401:R484H;ENSP00000394621:R523H;ENSP00000364564:R484H;ENSP00000364569:R281H;ENSP00000364557:R301H;ENSP00000167825:R231H	ENSP00000167825:R231H	R	+	2	0	ARHGEF10L	17826569	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	6.196000	0.72094	2.555000	0.86185	0.462000	0.41574	CGC	-	ARHGEF10L	-	NULL		0.662	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	0	0	0	33	33	7	0.00	0.00	G	NM_018125		17953982	+1	16	8	16	5	tier1	no_errors	ENST00000361221	ensembl	human	known	74_37	missense	50.00	61.54	SNP	1.000	A	16	16
BCOR	54880	genome.wustl.edu	37	X	39933594	39933594	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:39933594delG	ENST00000378444.4	-	4	1233	c.1005delC	c.(1003-1005)cccfs	p.P335fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.P335fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.P335fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.P335fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	335					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCGAGGCGAGGGGGGCAACA	0.632			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						ENSG00000183337																												Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													34.0	28.0	30.0					X																	39933594		2202	4300	6502	SO:0001589	frameshift_variant	0				AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1005delC	X.37:g.39933594delG	ENSP00000367705:p.Pro335fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S336fs	ENST00000378444.4	37	c.1005	CCDS48093.1	X																																																																																				BCOR	-	NULL		0.632	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	0	0	0	26	26	12	0.00	0.00	G	NM_017745		39933594	-1	7	4	32	8	tier1	no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_del	17.95	33.33	DEL	0.954	-	7	32
CACNA1F	778	genome.wustl.edu	37	X	49068717	49068717	+	Missense_Mutation	SNP	C	C	T	rs151203138	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:49068717C>T	ENST00000376265.2	-	34	4088	c.4027G>A	c.(4027-4029)Gtc>Atc	p.V1343I	CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1278I|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1332I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1343					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)	p.V1343I(1)		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)	ATGCCAATGACGGCATAGATG	0.547													ENSG00000102001																																					1	Substitution - Missense(1)	large_intestine(1)						C	ILE/VAL	1,3834		0,1,0,1631,571	39.0	31.0	33.0		4027	5.0	1.0	X	dbSNP_134	33	1,6727		0,0,1,2428,1871	no	missense	CACNA1F	NM_005183.2	29	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	possibly-damaging	1343/1978	49068717	2,10561	2203	4300	6503	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.4027G>A	X.37:g.49068717C>T	ENSP00000365441:p.Val1343Ile		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.V1343I	ENST00000376265.2	37	c.4027	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	18.38	3.612013	0.66558	2.61E-4	1.49E-4	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98150	-4.75;-4.75;-4.75	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	L	0.49513	1.565	0.54753	D	0.999983	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.98065	1.0395	10	0.36615	T	0.2	.	16.1288	0.81412	0.0:1.0:0.0:0.0	.	1332;1343	F5CIQ9;O60840	.;CAC1F_HUMAN	I	1278;1332;1343	ENSP00000365427:V1278I;ENSP00000321618:V1332I;ENSP00000365441:V1343I	ENSP00000321618:V1332I	V	-	1	0	CACNA1F	48955661	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.959000	0.70339	2.058000	0.61347	0.544000	0.68410	GTC	rs151203138	CAC1F	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CAC1F	HGNC	protein_coding	OTTHUMT00000358157.1	0	0	0	23	23	6	0.00	0.00	C	NM_005183		49068717	-1	18	11	15	5	tier1	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	54.55	68.75	SNP	1.000	T	18	15
CELSR1	9620	genome.wustl.edu	37	22	46762287	46762287	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:46762287C>T	ENST00000262738.3	-	30	8295	c.8296G>A	c.(8296-8298)Gtc>Atc	p.V2766I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2766					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTGACCTGACGATGCTGTCC	0.632													ENSG00000075275																																					0													26.0	21.0	23.0					22																	46762287		1969	3812	5781	SO:0001583	missense	0			-	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8296G>A	22.37:g.46762287C>T	ENSP00000262738:p.Val2766Ile		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2766I	ENST00000262738.3	37	c.8296	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	c	2.793	-0.250885	0.05867	.	.	ENSG00000075275	ENST00000262738	T	0.68331	-0.32	4.47	-8.94	0.00768	.	0.560044	0.15094	U	0.280912	T	0.43942	0.1270	L	0.39898	1.24	0.36056	D	0.841119	B	0.23806	0.091	B	0.11329	0.006	T	0.18871	-1.0323	10	0.16896	T	0.51	.	8.5942	0.33705	0.0:0.3188:0.2404:0.4408	.	2766	Q9NYQ6	CELR1_HUMAN	I	2766	ENSP00000262738:V2766I	ENSP00000262738:V2766I	V	-	1	0	CELSR1	45140951	0.286000	0.24305	0.013000	0.15412	0.059000	0.15707	-0.422000	0.07043	-2.483000	0.00521	-0.719000	0.03609	GTC	-	CELSR1	-	NULL		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	0	0	0	52	52	13	0.00	0.00	C	NM_014246		46762287	-1	22	3	49	7	tier1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	30.99	30.00	SNP	0.020	T	22	49
DNAJC17	55192	genome.wustl.edu	37	15	41060224	41060224	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:41060224C>T	ENST00000220496.4	-	11	859	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	C15orf62_ENST00000344320.6_5'Flank|DNAJC17_ENST00000558727.1_5'UTR	NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCATCATGACGAGGCTCTCG	0.667													ENSG00000104129																																					0													80.0	70.0	74.0					15																	41060224		2203	4300	6503	SO:0001583	missense	0			-	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.829G>A	15.37:g.41060224C>T	ENSP00000220496:p.Val277Ile			Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V277I	ENST00000220496.4	37	c.829	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358415	0.61403	.	.	ENSG00000104129	ENST00000220496	T	0.21191	2.02	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	M	0.78344	2.41	0.80722	D	1	D	0.55605	0.972	B	0.40477	0.33	T	0.13737	-1.0498	10	0.44086	T	0.13	.	18.055	0.89362	0.0:1.0:0.0:0.0	.	277	Q9NVM6	DJC17_HUMAN	I	277	ENSP00000220496:V277I	ENSP00000220496:V277I	V	-	1	0	DNAJC17	38847516	1.000000	0.71417	0.993000	0.49108	0.401000	0.30781	6.446000	0.73460	2.873000	0.98535	0.561000	0.74099	GTC	-	DJC17	-	NULL		0.667	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DJC17	HGNC	protein_coding	OTTHUMT00000252356.2	0	0	0	75	75	6	0.00	0.00	C	NM_018163		41060224	-1	14	4	69	8	tier1	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	16.87	33.33	SNP	1.000	T	14	69
AL359195.1	0	genome.wustl.edu	37	10	82012546	82012546	+	Missense_Mutation	SNP	G	G	A	rs566893636	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:82012546G>A	ENST00000356374.4	+	1	3081	c.64G>A	c.(64-66)Ggg>Agg	p.G22R																								TCAGTCCTCCGGGACCTCATT	0.607													ENSG00000204038	a|||	2	0.000399361	0.0	0.0	5008	,	,		21108	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001583	missense	0			-																												ENST00000356374.4:c.64G>A	10.37:g.82012546G>A	ENSP00000348738:p.Gly22Arg			Missense_Mutation	SNP	NULL	p.G22R	ENST00000356374.4	37	c.64		10	.	.	.	.	.	.	.	.	.	.	-	3.623	-0.077124	0.07184	.	.	ENSG00000204038	ENST00000356374	.	.	.	0.977	-1.95	0.07548	.	.	.	.	.	T	0.29652	0.0740	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32428	-0.9907	4	0.42905	T	0.14	.	2.3054	0.04173	0.2363:0.0:0.4823:0.2814	.	.	.	.	R	22	.	ENSP00000348738:G22R	G	+	1	0	AL359195.1	82002526	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.154000	0.03166	-0.728000	0.04882	-0.723000	0.03601	GGG	-	AL359195.1	-	NULL		0.607	AL359195.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000204038	Clone_based_ensembl_gene	protein_coding		0	0	0	19	19	6	0.00	0.00	G			82012546	+1	6	2	14	0	tier1	no_errors	ENST00000356374	ensembl	human	known	74_37	missense	28.57	100.00	SNP	0.014	A	6	14
GJB1	2705	genome.wustl.edu	37	X	70444048	70444048	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:70444048G>A	ENST00000374022.3	+	2	586	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	GJB1_ENST00000361726.6_Missense_Mutation_p.R164Q|GJB1_ENST00000374029.1_Missense_Mutation_p.R164Q	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	164			R -> Q (in CMTX1). {ECO:0000269|PubMed:10220155, ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10923043, ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9361298}.|R -> W (in CMTX1; moderate). {ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:8733054, ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9361298}.		cell death (GO:0008219)|cell-cell signaling (GO:0007267)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)|purine ribonucleotide transport (GO:0015868)|transport (GO:0006810)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					GCCATGGTGCGGCTGGTCAAG	0.567													ENSG00000169562																																					0			GRCh37	CM970669	GJB1	M							164.0	127.0	140.0					X																	70444048		2203	4299	6502	SO:0001583	missense	0			-	X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562		"""Ion channels / Gap junction proteins (connexins)"""	4283	protein-coding gene	gene with protein product	"""Charcot-Marie-Tooth neuropathy, X-linked"", ""connexin 32"""	304040	"""gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)"", ""gap junction protein, beta 1, 32kDa (connexin 32)"""	CMTX1, CMTX		1319395	Standard	NM_000166		Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.491G>A	X.37:g.70444048G>A	ENSP00000363134:p.Arg164Gln		B2R8R2|D3DVV2|Q5U0S4	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32	p.R164Q	ENST00000374022.3	37	c.491	CCDS14408.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964245	0.74131	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.95518	-3.73;-3.73;-3.73	4.81	4.81	0.61882	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97511	0.9185	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97186	0.9854	10	0.35671	T	0.21	.	17.1709	0.86830	0.0:0.0:1.0:0.0	.	164	P08034	CXB1_HUMAN	Q	164	ENSP00000363141:R164Q;ENSP00000363134:R164Q;ENSP00000354900:R164Q	ENSP00000354900:R164Q	R	+	2	0	GJB1	70360773	1.000000	0.71417	0.992000	0.48379	0.747000	0.42532	9.654000	0.98509	2.234000	0.73211	0.592000	0.82586	CGG	-	GJB1	-	pfam_Connexin_CCC		0.567	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB1	HGNC	protein_coding	OTTHUMT00000057133.1	0	0	0	20	20	19	0.00	0.00	G	NM_000166		70444048	+1	12	12	7	5	tier1	no_errors	ENST00000361726	ensembl	human	known	74_37	missense	63.16	70.59	SNP	1.000	A	12	7
GRWD1	83743	genome.wustl.edu	37	19	48956136	48956136	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:48956136G>A	ENST00000253237.5	+	7	1428	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	399						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGCCGACCCCGGACTGGCCGA	0.697													ENSG00000105447																																					0													32.0	32.0	32.0					19																	48956136		2200	4299	6499	SO:0001583	missense	0			-	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1195G>A	19.37:g.48956136G>A	ENSP00000253237:p.Gly399Arg		Q8TF59	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G399R	ENST00000253237.5	37	c.1195	CCDS12720.1	19	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407544	0.25378	.	.	ENSG00000105447	ENST00000253237	T	0.68624	-0.34	5.2	4.1	0.47936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.555807	0.17749	N	0.163300	T	0.63815	0.2543	M	0.61703	1.905	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.53899	-0.8373	10	0.33141	T	0.24	.	15.4308	0.75099	0.0:0.1392:0.8607:0.0	.	399	Q9BQ67	GRWD1_HUMAN	R	399	ENSP00000253237:G399R	ENSP00000253237:G399R	G	+	1	0	GRWD1	53647948	0.998000	0.40836	0.264000	0.24511	0.192000	0.23643	6.517000	0.73759	2.599000	0.87857	0.561000	0.74099	GGA	-	GRWD1	-	superfamily_WD40_repeat_dom		0.697	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRWD1	HGNC	protein_coding	OTTHUMT00000466122.1	0	0	0	18	18	7	0.00	0.00	G	NM_031485		48956136	+1	6	2	21	2	tier1	no_errors	ENST00000253237	ensembl	human	known	74_37	missense	22.22	50.00	SNP	0.127	A	6	21
OR5D18	219438	genome.wustl.edu	37	11	55587910	55587910	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:55587910A>G	ENST00000333976.4	+	1	825	c.805A>G	c.(805-807)Agg>Ggg	p.R269G		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CAAAAACTCCAGGCACACAGT	0.502													ENSG00000186119																																					0													90.0	86.0	88.0					11																	55587910		2200	4296	6496	SO:0001583	missense	0			-	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.805A>G	11.37:g.55587910A>G	ENSP00000335025:p.Arg269Gly		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R269G	ENST00000333976.4	37	c.805	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	6.433	0.447938	0.12223	.	.	ENSG00000186119	ENST00000333976	T	0.00145	8.67	4.81	0.706	0.18133	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000536	T	0.00073	0.0002	N	0.16130	0.375	0.09310	N	1	B	0.17038	0.02	B	0.17979	0.02	T	0.22906	-1.0203	10	0.51188	T	0.08	-11.5692	6.5486	0.22420	0.5606:0.2962:0.0:0.1432	.	269	Q8NGL1	OR5DI_HUMAN	G	269	ENSP00000335025:R269G	ENSP00000335025:R269G	R	+	1	2	OR5D18	55344486	0.000000	0.05858	0.981000	0.43875	0.164000	0.22412	-1.695000	0.01913	0.258000	0.21686	-0.461000	0.05368	AGG	-	OR5D18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.502	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	0	0	0	32	32	30	0.00	0.00	A	NM_001001952		55587910	+1	4	7	26	7	tier1	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	13.33	50.00	SNP	0.096	G	4	26
PLEKHG5	57449	genome.wustl.edu	37	1	6529145	6529145	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:6529145T>C	ENST00000400915.3	-	20	2440	c.2374A>G	c.(2374-2376)Acc>Gcc	p.T792A	PLEKHG5_ENST00000377737.2_Missense_Mutation_p.T736A|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.T736A|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.T736A|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.T736A|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.T805A|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.T773A|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.T813A|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.T736A|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.T815A|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.T736A|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.T813A|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	792					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGCATGATGGTAGGGGAGCTG	0.607													ENSG00000171680																																					0													83.0	81.0	82.0					1																	6529145		2203	4300	6503	SO:0001583	missense	0			-	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2374A>G	1.37:g.6529145T>C	ENSP00000383706:p.Thr792Ala		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T815A	ENST00000400915.3	37	c.2443	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783201	0.49891	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.2;-0.22;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.39	4.26	0.50523	.	0.414736	0.28790	N	0.014128	T	0.54743	0.1877	L	0.27053	0.805	0.36770	D	0.883766	P;P;P;P;P	0.52692	0.955;0.955;0.622;0.955;0.925	P;P;B;P;B	0.48454	0.578;0.578;0.112;0.578;0.374	T	0.54827	-0.8235	10	0.10111	T	0.7	-37.6761	9.9244	0.41483	0.0:0.0811:0.0:0.9189	.	805;736;813;813;792	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	A	813;736;736;792;813;773;736;736;805;736;642;815;736	ENSP00000366977:T813A;ENSP00000344570:T736A;ENSP00000383704:T736A;ENSP00000383706:T792A;ENSP00000366969:T813A;ENSP00000366961:T773A;ENSP00000366957:T736A;ENSP00000366954:T736A;ENSP00000441445:T805A;ENSP00000366966:T736A;ENSP00000439625:T815A;ENSP00000437710:T736A	ENSP00000344570:T736A	T	-	1	0	PLEKHG5	6451732	0.995000	0.38212	0.999000	0.59377	0.377000	0.30045	2.240000	0.43088	0.898000	0.36418	0.379000	0.24179	ACC	-	PLEKHG5	-	NULL		0.607	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	0	0	0	28	28	10	0.00	0.00	T	NM_020631		6529145	-1	3	3	14	9	tier1	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	17.65	25.00	SNP	1.000	C	3	14
PPP1R10	5514	genome.wustl.edu	37	6	30570263	30570264	+	In_Frame_Ins	INS	-	-	GGA			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	GGA	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30570263_30570264insGGA	ENST00000376511.2	-	19	2714_2715	c.2162_2163insTCC	c.(2161-2163)cca>ccTCCa	p.721_721P>PP		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	721	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CGCCTCGGAATggaggaggagg	0.673													ENSG00000204569																																					0																																										SO:0001652	inframe_insertion	0				Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2160_2162dupTCC	6.37:g.30570270_30570272dupGGA	ENSP00000365694:p.Pro721dup		O00405	In_Frame_Ins	INS	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.722in_frame_insP	ENST00000376511.2	37	c.2163_2162	CCDS4681.1	6																																																																																				PPP1R10	-	NULL		0.673	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	0	0	0	58	58	15	0.00	0.00	-	NM_002714		30570264	-1	12	4	77	7	tier1	no_errors	ENST00000376511	ensembl	human	known	74_37	in_frame_ins	13.48	36.36	INS	0.355:0.990	GGA	12	77
PROM2	150696	genome.wustl.edu	37	2	95941702	95941702	+	Missense_Mutation	SNP	G	G	A	rs142809353	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:95941702G>A	ENST00000317620.9	+	3	452	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PROM2_ENST00000317668.4_Missense_Mutation_p.V107M|PROM2_ENST00000403131.2_Missense_Mutation_p.V107M|PROM2_ENST00000542147.1_Missense_Mutation_p.V107M|PROM2_ENST00000463580.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	107					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCGGGCTACGTGGTATGCGC	0.697													ENSG00000155066																																					0								G	MET/VAL,MET/VAL,MET/VAL	5,4397		0,5,2196	21.0	31.0	27.0		319,319,319	1.6	1.0	2	dbSNP_134	27	32,8564		0,32,4266	yes	missense,missense,missense	PROM2	NM_001165977.1,NM_001165978.1,NM_144707.2	21,21,21	0,37,6462	AA,AG,GG		0.3723,0.1136,0.2847	possibly-damaging,possibly-damaging,possibly-damaging	107/835,107/835,107/835	95941702	37,12961	2201	4298	6499	SO:0001583	missense	0			-	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.319G>A	2.37:g.95941702G>A	ENSP00000318270:p.Val107Met		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.V107M	ENST00000317620.9	37	c.319	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108498	0.37242	0.001136	0.003723	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.77	1.63	0.23807	.	0.230537	0.28754	N	0.014252	T	0.58466	0.2124	M	0.72118	2.19	0.36113	D	0.844949	D	0.76494	0.999	D	0.63381	0.914	T	0.62923	-0.6751	10	0.45353	T	0.12	-10.7629	7.4143	0.27036	0.0:0.3531:0.4652:0.1816	.	107	Q8N271	PROM2_HUMAN	M	107	ENSP00000385716:V107M;ENSP00000318520:V107M;ENSP00000318270:V107M;ENSP00000442542:V107M	ENSP00000318270:V107M	V	+	1	0	PROM2	95305429	0.100000	0.21855	0.996000	0.52242	0.039000	0.13416	0.176000	0.16782	0.380000	0.24823	0.462000	0.41574	GTG	rs142809353	PROM2	-	pfam_Prominin		0.697	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	0	0	0	9	9	20	0.00	0.00	G	NM_144707		95941702	+1	9	3	7	6	tier1	no_errors	ENST00000317620	ensembl	human	known	74_37	missense	56.25	33.33	SNP	0.997	A	9	7
SENP3	26168	genome.wustl.edu	37	17	7466910	7466910	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:7466910G>T	ENST00000429205.2	+	2	566	c.517G>T	c.(517-519)Ggg>Tgg	p.G173W	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000321337.7_Missense_Mutation_p.G173W|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	173						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				ACCCCAGCAAGGGGGTGCGAC	0.662													ENSG00000161956																																					0													9.0	12.0	11.0					17																	7466910		1870	4066	5936	SO:0001583	missense	0			-	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.517G>T	17.37:g.7466910G>T	ENSP00000403712:p.Gly173Trp		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G173W	ENST00000429205.2	37	c.517		17	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626199	0.66901	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.57752	0.38;0.39	5.52	4.55	0.56014	.	0.000000	0.45606	D	0.000348	T	0.45617	0.1351	N	0.19112	0.55	0.36609	D	0.875099	D	0.53745	0.962	P	0.51297	0.665	T	0.54437	-0.8294	10	0.45353	T	0.12	-13.0766	10.1241	0.42639	0.0892:0.0:0.9108:0.0	.	173	Q9H4L4	SENP3_HUMAN	W	173	ENSP00000314029:G173W;ENSP00000403712:G173W	ENSP00000314029:G173W	G	+	1	0	SENP3	7407634	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.134000	0.50538	1.573000	0.49748	0.563000	0.77884	GGG	-	SENP3	-	NULL		0.662	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	HGNC	protein_coding		0	0	0	38	38	13	0.00	0.00	G	NM_015670		7466910	+1	10	3	32	9	tier1	no_errors	ENST00000429205	ensembl	human	known	74_37	missense	23.81	25.00	SNP	1.000	T	10	32
SPPL2C	162540	genome.wustl.edu	37	17	43922898	43922898	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:43922898A>C	ENST00000329196.5	+	1	643	c.626A>C	c.(625-627)gAa>gCa	p.E209A	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	209						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GGCCTGACCGAAGCCAACCGG	0.642													ENSG00000185294																																					0													51.0	45.0	47.0					17																	43922898		2203	4299	6502	SO:0001583	missense	0			-		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.626A>C	17.37:g.43922898A>C	ENSP00000332488:p.Glu209Ala		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.E209A	ENST00000329196.5	37	c.626	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	A	8.185	0.794714	0.16327	.	.	ENSG00000185294	ENST00000329196	T	0.05319	3.46	5.03	5.03	0.67393	.	0.000000	0.43110	D	0.000606	T	0.10252	0.0251	M	0.78637	2.42	0.33359	D	0.572039	B	0.22683	0.073	B	0.23419	0.046	T	0.05354	-1.0890	10	0.20519	T	0.43	-20.3953	11.0652	0.47972	1.0:0.0:0.0:0.0	.	209	Q8IUH8	IMP5_HUMAN	A	209	ENSP00000332488:E209A	ENSP00000332488:E209A	E	+	2	0	AC217771.1	41278678	0.841000	0.29509	0.817000	0.32601	0.010000	0.07245	2.173000	0.42472	2.113000	0.64589	0.533000	0.62120	GAA	-	SPPL2C	-	NULL		0.642	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	0	0	0	28	28	6	0.00	0.00	A	NM_175882		43922898	+1	7	3	18	5	tier1	no_errors	ENST00000329196	ensembl	human	known	74_37	missense	28.00	37.50	SNP	1.000	C	7	18
TICAM1	148022	genome.wustl.edu	37	19	4816506	4816506	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:4816506C>T	ENST00000248244.5	-	2	2113	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	628	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGGCGGCTGCGGGCACCCCG	0.711													ENSG00000127666																																					0													14.0	14.0	14.0					19																	4816506		2192	4280	6472	SO:0001819	synonymous_variant	0			-	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1884G>A	19.37:g.4816506C>T			B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	superfamily_TIR_dom,pirsf_TICAM1	p.P628	ENST00000248244.5	37	c.1884	CCDS12136.1	19																																																																																			-	TICAM1	-	pirsf_TICAM1		0.711	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	0	0	0	38	38	5	0.00	0.00	C	NM_014261		4816506	-1	11	2	21	6	tier1	no_errors	ENST00000248244	ensembl	human	known	74_37	silent	33.33	25.00	SNP	0.000	T	11	21
TRIM3	10612	genome.wustl.edu	37	11	6478144	6478144	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:6478144C>A	ENST00000525074.1	-	6	1206	c.812G>T	c.(811-813)cGc>cTc	p.R271L	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Missense_Mutation_p.R271L|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000536344.1_Missense_Mutation_p.R152L|TRIM3_ENST00000359518.3_Missense_Mutation_p.R271L	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	271					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTGCTTGCGCACCAGCAA	0.647													ENSG00000110171																									Melanoma(6;5 510 1540 25169 29084)												0													56.0	54.0	55.0					11																	6478144		2201	4295	6496	SO:0001583	missense	0			-	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.812G>T	11.37:g.6478144C>A	ENSP00000433102:p.Arg271Leu		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R271L	ENST00000525074.1	37	c.812	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971677	0.53614	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344	T;T;T;D	0.83163	-0.58;-0.58;-0.58;-1.69	5.27	5.27	0.74061	B-box, C-terminal (1);	0.110778	0.64402	D	0.000015	T	0.71341	0.3328	L	0.29908	0.895	0.41573	D	0.98869	B;B;B	0.30686	0.102;0.29;0.105	B;B;B	0.29942	0.109;0.081;0.081	T	0.68131	-0.5490	10	0.30078	T	0.28	-15.2088	8.2335	0.31612	0.0:0.8301:0.0:0.1699	.	152;152;271	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	L	271;271;271;271;260;271;152	ENSP00000433102:R271L;ENSP00000340797:R271L;ENSP00000352508:R271L;ENSP00000445460:R152L	ENSP00000337094:R260L	R	-	2	0	TRIM3	6434720	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.071000	0.50041	2.472000	0.83506	0.563000	0.77884	CGC	-	TRIM3	-	smart_Bbox_C		0.647	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	0	0	0	75	75	8	0.00	0.00	C	NM_006458		6478144	-1	8	3	35	0	tier1	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	18.18	100.00	SNP	1.000	A	8	35
ZFHX2	85446	genome.wustl.edu	37	14	23994760	23994760	+	Frame_Shift_Del	DEL	G	G	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:23994760delG	ENST00000419474.3	-	9	4746	c.4391delC	c.(4390-4392)cctfs	p.P1466fs	RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1466	Pro-rich.				adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GGTAGGGGGAGGGGGCACAGC	0.587													ENSG00000136367																																					0																																										SO:0001589	frameshift_variant	0				AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.4391delC	14.37:g.23994760delG	ENSP00000413418:p.Pro1466fs		Q9UPU6	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P1464fs	ENST00000419474.3	37	c.4391	CCDS55907.1	14																																																																																				ZFHX2	-	NULL		0.587	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	0	0	0	45	45	24	0.00	0.00	G	NM_014894		23994760	-1	16	14	43	8	tier1	no_errors	ENST00000419474	ensembl	human	known	74_37	frame_shift_del	27.12	63.64	DEL	0.930	-	16	43
CHPF2	54480	genome.wustl.edu	37	7	150935093	150935093	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:150935093G>A	ENST00000035307.2	+	4	3158	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	CHPF2_ENST00000495645.1_Missense_Mutation_p.A541T|RP4-548D19.3_ENST00000607902.1_RNA|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	549					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GAAGGCTGCAGCAGCGGAGTT	0.632													ENSG00000033100																																					0													44.0	42.0	43.0					7																	150935093		2203	4300	6503	SO:0001583	missense	0			-	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1645G>A	7.37:g.150935093G>A	ENSP00000035307:p.Ala549Thr		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_Galc,pfam_Fringe-like	p.A549T	ENST00000035307.2	37	c.1645	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316648	0.60524	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.17213	2.29;2.29	4.8	4.8	0.61643	.	0.272836	0.38837	N	0.001555	T	0.16041	0.0386	L	0.34521	1.04	0.33442	D	0.582559	P;B	0.39094	0.659;0.069	B;B	0.43301	0.415;0.015	T	0.12319	-1.0552	10	0.54805	T	0.06	-0.9278	8.9344	0.35691	0.1667:0.0:0.8333:0.0	.	549;541	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	T	541;549;549	ENSP00000418914:A541T;ENSP00000035307:A549T	ENSP00000035307:A549T	A	+	1	0	CHPF2	150566026	0.998000	0.40836	0.814000	0.32528	0.987000	0.75469	3.552000	0.53705	2.488000	0.83962	0.650000	0.86243	GCA	-	CHPF2	-	pfam_Chond_Galc		0.632	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	0	0	1	39	39	53	0.00	1.85	G	NM_019015		150935093	+1	5	6	23	67	tier1	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	17.86	8.22	SNP	0.830	A	5	23
DCAF12	25853	genome.wustl.edu	37	9	34098374	34098374	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:34098374G>A	ENST00000361264.4	-	5	1084	c.743C>T	c.(742-744)aCa>aTa	p.T248I	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	248					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GTCAGGGTTTGTGTCTTCTTT	0.473													ENSG00000198876																																					0													388.0	321.0	344.0					9																	34098374		2203	4300	6503	SO:0001583	missense	0			-	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.743C>T	9.37:g.34098374G>A	ENSP00000355114:p.Thr248Ile		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T248I	ENST00000361264.4	37	c.743	CCDS6549.1	9	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384183	0.61845	.	.	ENSG00000198876	ENST00000361264	T	0.62941	-0.01	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	L	0.46157	1.445	0.80722	D	1	B	0.19706	0.038	B	0.17098	0.017	T	0.51100	-0.8748	10	0.25751	T	0.34	-21.5275	17.5766	0.87952	0.0:0.0:1.0:0.0	.	248	Q5T6F0	DCA12_HUMAN	I	248	ENSP00000355114:T248I	ENSP00000355114:T248I	T	-	2	0	DCAF12	34088374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.885000	0.92439	2.596000	0.87737	0.655000	0.94253	ACA	-	DCAF12	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.473	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2	0	0	0	49	49	81	0.00	0.00	G	NM_015397		34098374	-1	6	11	58	110	tier1	no_errors	ENST00000361264	ensembl	human	known	74_37	missense	9.38	9.09	SNP	1.000	A	6	58
ACOT11	26027	genome.wustl.edu	37	1	55050452	55050452	+	Missense_Mutation	SNP	T	T	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:55050452T>C	ENST00000371316.3	+	2	240	c.158T>C	c.(157-159)gTg>gCg	p.V53A	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V53A	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	53	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGCCAGCTGGTGCTGCCCTGC	0.647													ENSG00000162390																									Ovarian(148;1440 1861 22015 32453 51933)												0													94.0	74.0	81.0					1																	55050452		2203	4300	6503	SO:0001583	missense	0			-	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.158T>C	1.37:g.55050452T>C	ENSP00000360366:p.Val53Ala		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.V53A	ENST00000371316.3	37	c.158	CCDS592.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.193834	0.94960	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.52526	0.66;0.66	5.09	5.09	0.68999	.	0.056882	0.64402	D	0.000001	T	0.67344	0.2883	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;D	0.66847	0.867;0.947	T	0.68573	-0.5373	10	0.38643	T	0.18	-6.3778	15.1779	0.72931	0.0:0.0:0.0:1.0	.	53;53	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	A	53	ENSP00000340260:V53A;ENSP00000360366:V53A	ENSP00000340260:V53A	V	+	2	0	ACOT11	54823040	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	7.877000	0.87225	2.047000	0.60756	0.533000	0.62120	GTG	-	ACOT11	-	NULL		0.647	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	0	0	0	53	53	31	0.00	0.00	T	NM_015547		55050452	+1	8	5	45	47	tier1	no_errors	ENST00000371316	ensembl	human	known	74_37	missense	14.81	9.62	SNP	1.000	C	8	45
CENPW	387103	genome.wustl.edu	37	6	126661509	126661509	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:126661509G>A	ENST00000368328.4	+	1	190	c.90G>A	c.(88-90)aaG>aaA	p.K30K	CENPW_ENST00000368326.1_Silent_p.K30K|CENPW_ENST00000368325.1_Silent_p.K30K			Q5EE01	CENPW_HUMAN	centromere protein W	30					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						AGCGAAAGAAGCCTCAACTTC	0.522													ENSG00000203760																																					0													87.0	81.0	83.0					6																	126661509		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"""cancer-upregulated gene 2"""	611264	"""chromosome 6 open reading frame 173"""	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.90G>A	6.37:g.126661509G>A			A6NIR0|A6NJC2	Silent	SNP	NULL	p.K30	ENST00000368328.4	37	c.90	CCDS34529.1	6																																																																																			-	CENPW	-	NULL		0.522	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPW	HGNC	protein_coding	OTTHUMT00000042104.1	0	0	0	101	101	84	0.00	0.00	G			126661509	+1	8	10	69	96	tier1	no_errors	ENST00000368325	ensembl	human	known	74_37	silent	10.39	9.43	SNP	0.999	A	8	69
OR2T4	127074	genome.wustl.edu	37	1	248525879	248525879	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:248525879C>T	ENST00000366475.1	+	1	997	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	333						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L333M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGGGGCTCTGAAGAAAAT	0.408													ENSG00000196944																																					1	Substitution - Missense(1)	large_intestine(1)											107.0	113.0	111.0					1																	248525879		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.997C>T	1.37:g.248525879C>T			Q6IEZ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L333	ENST00000366475.1	37	c.997	CCDS31113.1	1																																																																																			-	OR2T4	-	NULL		0.408	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	0	0	0	125	125	18	0.00	0.00	C	NM_001004696		248525879	+1	18	4	104	41	tier1	no_errors	ENST00000366475	ensembl	human	known	74_37	silent	14.63	8.89	SNP	0.008	T	18	104
MDC1	9656	genome.wustl.edu	37	6	30671546	30671546	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30671546G>T	ENST00000376406.3	-	10	6061	c.5414C>A	c.(5413-5415)cCt>cAt	p.P1805H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1541H	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1805	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGAGGCCTTAGGCTGGAGCTC	0.532								Other conserved DNA damage response genes					ENSG00000137337																																					0													125.0	119.0	121.0					6																	30671546		2203	4300	6503	SO:0001583	missense	0			-	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5414C>A	6.37:g.30671546G>T	ENSP00000365588:p.Pro1805His		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.P1805H	ENST00000376406.3	37	c.5414	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432780	0.25813	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.10288	2.89;2.89	5.24	2.45	0.29901	.	1.136940	0.06920	N	0.809126	T	0.12646	0.0307	M	0.70275	2.135	0.09310	N	1	D;D;B	0.71674	0.994;0.998;0.073	P;P;B	0.62740	0.906;0.753;0.064	T	0.12708	-1.0537	10	0.49607	T	0.09	-0.4349	4.2935	0.10890	0.086:0.1564:0.5953:0.1622	.	1541;1805;782	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	H	1805;1541;1518;1371	ENSP00000365588:P1805H;ENSP00000365587:P1541H	ENSP00000365587:P1541H	P	-	2	0	MDC1	30779525	0.282000	0.24268	0.002000	0.10522	0.111000	0.19643	1.358000	0.34102	0.298000	0.22638	-1.130000	0.01982	CCT	-	MDC1	-	NULL		0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	0	0	0	33	33	67	0.00	0.00	G	NM_014641		30671546	-1	4	8	31	99	tier1	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	11.43	7.48	SNP	0.034	T	4	31
COL12A1	1303	genome.wustl.edu	37	6	75838038	75838038	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:75838038C>T	ENST00000322507.8	-	38	6623	c.6314G>A	c.(6313-6315)gGc>gAc	p.G2105D	COL12A1_ENST00000345356.6_Missense_Mutation_p.G941D|COL12A1_ENST00000483888.2_Missense_Mutation_p.G2105D|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2105D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2105	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTTAGATGGCCACCATCTCC	0.373													ENSG00000111799																																					0													146.0	144.0	145.0					6																	75838038		1875	4096	5971	SO:0001583	missense	0			-	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6314G>A	6.37:g.75838038C>T	ENSP00000325146:p.Gly2105Asp		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G2105D	ENST00000322507.8	37	c.6314	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235098	0.58886	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.9	4.1	0.47936	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.115091	0.56097	D	0.000024	T	0.34978	0.0916	L	0.43757	1.38	0.42148	D	0.991544	B;B	0.32918	0.39;0.171	B;B	0.41299	0.353;0.174	T	0.20174	-1.0283	10	0.16420	T	0.52	.	16.7551	0.85497	0.0:0.7427:0.2573:0.0	.	941;2105	Q99715-2;Q99715	.;COCA1_HUMAN	D	2105;2105;941;2105;2105	ENSP00000325146:G2105D;ENSP00000305147:G941D;ENSP00000412864:G2105D;ENSP00000421216:G2105D	ENSP00000325146:G2105D	G	-	2	0	COL12A1	75894758	0.994000	0.37717	0.764000	0.31436	0.995000	0.86356	3.587000	0.53957	0.801000	0.34066	0.455000	0.32223	GGC	-	COL12A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	0	0	0	56	56	37	0.00	0.00	C	NM_004370		75838038	-1	18	8	58	89	tier1	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	23.68	8.16	SNP	1.000	T	18	58
GALNT10	55568	genome.wustl.edu	37	5	153760019	153760019	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:153760019C>T	ENST00000297107.6	+	6	903	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Missense_Mutation_p.R256W|GALNT10_ENST00000377661.2_Missense_Mutation_p.R194W	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	256					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGCATTGCTCGGAACCGCAA	0.507													ENSG00000164574																																					0													192.0	163.0	173.0					5																	153760019		2203	4300	6503	SO:0001583	missense	0			-	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.766C>T	5.37:g.153760019C>T	ENSP00000297107:p.Arg256Trp		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R256W	ENST00000297107.6	37	c.766	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911398	0.72983	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.62105	0.17;0.17;0.05	5.41	3.23	0.37069	Glycosyl transferase, family 2 (1);	0.179383	0.51477	D	0.000100	T	0.70029	0.3177	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.985;0.999;1.0	P;P;P	0.58928	0.655;0.848;0.827	T	0.71404	-0.4603	10	0.51188	T	0.08	.	11.1041	0.48193	0.1304:0.7921:0.0:0.0774	.	194;256;256	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	W	256;256;194	ENSP00000415210:R256W;ENSP00000297107:R256W;ENSP00000366889:R194W	ENSP00000297107:R256W	R	+	1	2	GALNT10	153740212	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.744000	0.55112	1.229000	0.43630	0.462000	0.41574	CGG	-	GALNT10	-	pfam_Glyco_trans_2		0.507	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	0	0	0	38	38	61	0.00	0.00	C	NM_198321		153760019	+1	10	7	64	86	tier1	no_errors	ENST00000297107	ensembl	human	known	74_37	missense	13.51	7.53	SNP	1.000	T	10	64
ABCA12	26154	genome.wustl.edu	37	2	215831612	215831612	+	Silent	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:215831612A>G	ENST00000272895.7	-	39	6063	c.5844T>C	c.(5842-5844)ctT>ctC	p.L1948L	ABCA12_ENST00000389661.4_Silent_p.L1630L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1948					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACTCGCAGAAGGAAATTAT	0.378													ENSG00000144452																									Ovarian(66;664 1488 5121 34295)												0													187.0	167.0	174.0					2																	215831612		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5844T>C	2.37:g.215831612A>G			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1948	ENST00000272895.7	37	c.5844	CCDS33372.1	2																																																																																			-	ABCA12	-	NULL		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	0	0	0	53	53	61	0.00	0.00	A	NM_173076		215831612	-1	15	7	72	72	tier1	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	17.24	8.75	SNP	0.982	G	15	72
PCDHGA2	56113	genome.wustl.edu	37	5	140720140	140720140	+	Silent	SNP	G	G	A	rs146024512		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:140720140G>A	ENST00000394576.2	+	1	1602	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGATAGCGCGGGACAGCG	0.527													ENSG00000081853																																					0								G	,,	0,4406		0,0,2203	157.0	155.0	156.0		,1602,1602	-10.4	0.0	5	dbSNP_134	156	2,8598		0,2,4298	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	,534/933,534/824	140720140	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1602G>A	5.37:g.140720140G>A			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A534	ENST00000394576.2	37	c.1602	CCDS47289.1	5																																																																																			rs146024512	PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.527	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	0	0	0	60	60	64	0.00	0.00	G	NM_018915		140720140	+1	5	4	43	77	tier1	no_errors	ENST00000394576	ensembl	human	known	74_37	silent	10.42	4.94	SNP	0.000	A	5	43
PITPNM2	57605	genome.wustl.edu	37	12	123475112	123475112	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:123475112G>A	ENST00000542749.1	-	15	2612	c.2549C>T	c.(2548-2550)aCg>aTg	p.T850M	PITPNM2_ENST00000320201.4_Missense_Mutation_p.T850M|PITPNM2_ENST00000280562.5_Missense_Mutation_p.T898M|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T571M			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	850	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCTGGATGCCGTGTAGCTCTC	0.657													ENSG00000090975																																					0													72.0	57.0	62.0					12																	123475112		2202	4300	6502	SO:0001583	missense	0			-	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2549C>T	12.37:g.123475112G>A	ENSP00000437611:p.Thr850Met		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.T850M	ENST00000542749.1	37	c.2549	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.150890	0.94645	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47869	1.19;1.15;0.83;1.15	5.35	5.35	0.76521	DDHD (2);	0.124582	0.52532	D	0.000064	T	0.66257	0.2771	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.78314	0.738;0.991	T	0.68202	-0.5471	10	0.72032	D	0.01	-27.21	19.0766	0.93165	0.0:0.0:1.0:0.0	.	898;850	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	M	898;850;571;850	ENSP00000280562:T898M;ENSP00000322218:T850M;ENSP00000376223:T571M;ENSP00000437611:T850M	ENSP00000280562:T898M	T	-	2	0	PITPNM2	122041065	1.000000	0.71417	0.966000	0.40874	0.954000	0.61252	9.826000	0.99387	2.495000	0.84180	0.462000	0.41574	ACG	-	PITPNM2	-	pfam_DDHD,pfscan_DDHD		0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	0	0	0	32	32	29	0.00	0.00	G	NM_020845		123475112	-1	9	4	30	38	tier1	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	23.08	8.89	SNP	1.000	A	9	30
SPHKAP	80309	genome.wustl.edu	37	2	228881380	228881380	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:228881380C>A	ENST00000392056.3	-	7	4236	c.4190G>T	c.(4189-4191)aGc>aTc	p.S1397I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1397I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1397						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATCTAAAGGGCTGTGGTTTGT	0.463													ENSG00000153820																																					0													90.0	96.0	94.0					2																	228881380		2203	4300	6503	SO:0001583	missense	0			-		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4190G>T	2.37:g.228881380C>A	ENSP00000375909:p.Ser1397Ile		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.S1397I	ENST00000392056.3	37	c.4190	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023045	0.19433	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11930	2.73;2.73	5.78	-6.99	0.01605	.	1.572440	0.02708	N	0.112522	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21147	0.0;0.052;0.007	B;B;B	0.24394	0.001;0.053;0.004	T	0.31110	-0.9955	10	0.28530	T	0.3	.	3.4925	0.07642	0.1496:0.4135:0.1397:0.2971	.	428;1397;1397	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1397	ENSP00000375909:S1397I;ENSP00000339886:S1397I	ENSP00000339886:S1397I	S	-	2	0	SPHKAP	228589624	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.244000	0.08903	-0.702000	0.05056	-1.021000	0.02439	AGC	-	SPHKAP	-	NULL		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	0	0	0	58	58	104	0.00	0.00	C	NM_030623		228881380	-1	6	10	60	93	tier1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	9.09	9.71	SNP	0.000	A	6	60
PPP1R9A	55607	genome.wustl.edu	37	7	94540337	94540337	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:94540337G>T	ENST00000433881.1	+	2	1444	c.912G>T	c.(910-912)gaG>gaT	p.E304D	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.E304D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E304D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E304D|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E304D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E304D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	304					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGAACCCGAGGACTCCACAT	0.473										HNSCC(28;0.073)			ENSG00000158528																																					0													52.0	50.0	50.0					7																	94540337		2203	4300	6503	SO:0001583	missense	0			-	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.912G>T	7.37:g.94540337G>T	ENSP00000398870:p.Glu304Asp		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.E304D	ENST00000433881.1	37	c.912	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	1.861	-0.462638	0.04508	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.73	2.97	0.34412	.	0.813661	0.11613	N	0.546588	D	0.90249	0.6951	L	0.50333	1.59	0.09310	N	0.999996	B;B;P;B;B	0.36465	0.002;0.185;0.554;0.001;0.0	B;B;B;B;B	0.38562	0.002;0.091;0.276;0.001;0.001	T	0.80091	-0.1527	9	.	.	.	.	7.7141	0.28694	0.1947:0.1178:0.6875:0.0	.	304;304;304;304;304	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	D	304	ENSP00000405514:E304D;ENSP00000344524:E304D;ENSP00000411342:E304D;ENSP00000398870:E304D;ENSP00000289495:E304D;ENSP00000402893:E304D	.	E	+	3	2	PPP1R9A	94378273	1.000000	0.71417	0.409000	0.26459	0.002000	0.02628	1.558000	0.36309	0.456000	0.26937	-0.806000	0.03193	GAG	-	PPP1R9A	-	NULL		0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	0	0	0	59	59	105	0.00	0.00	G	NM_001166160		94540337	+1	4	5	43	85	tier1	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	8.51	5.56	SNP	0.225	T	4	43
PHC3	80012	genome.wustl.edu	37	3	169863250	169863250	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:169863250C>T	ENST00000494943.1	-	6	665	c.597G>A	c.(595-597)tcG>tcA	p.S199S	PHC3_ENST00000495893.2_Silent_p.S211S|PHC3_ENST00000467570.1_Silent_p.S158S			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	199	Ser-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ACGATGACGACGAGACAACAG	0.438													ENSG00000173889																																					0													101.0	105.0	104.0					3																	169863250		2038	4200	6238	SO:0001819	synonymous_variant	0			-		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.597G>A	3.37:g.169863250C>T			A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.S211	ENST00000494943.1	37	c.633		3																																																																																			-	PHC3	-	NULL		0.438	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	0	0	0	54	54	62	0.00	0.00	C	NM_024947		169863250	-1	12	6	41	56	tier1	no_errors	ENST00000495893	ensembl	human	known	74_37	silent	22.64	9.68	SNP	1.000	T	12	41
NADK2	133686	genome.wustl.edu	37	5	36227666	36227666	+	Splice_Site	SNP	A	A	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:36227666A>C	ENST00000381937.4	-	2	301	c.302T>G	c.(301-303)cTt>cGt	p.L101R	NADK2_ENST00000514504.1_Splice_Site_p.L101R|NADK2_ENST00000282512.3_5'UTR|NADK2_ENST00000506945.1_5'UTR|NADK2_ENST00000397338.1_5'UTR	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	101					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TTTCAATGCAAGCTATATCAA	0.284													ENSG00000152620																																					0													76.0	71.0	72.0					5																	36227666		1819	4064	5883	SO:0001630	splice_region_variant	0			-	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.301-1T>G	5.37:g.36227666A>C			B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	pfam_PolyP/ATP_DK_prd,superfamily_ATP-D_kinase_PpnK-typ,pirsf_ATP-D-like_euk	p.L101R	ENST00000381937.4	37	c.302	CCDS47197.1	5	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276377	0.80580	.	.	ENSG00000152620	ENST00000381937;ENST00000514504	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	T	0.75079	0.3801	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.76721	-0.2855	8	0.59425	D	0.04	.	14.8859	0.70570	1.0:0.0:0.0:0.0	.	101	Q4G0N4	NAKD1_HUMAN	R	101	.	ENSP00000371362:L101R	L	-	2	0	NADKD1	36263423	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.914000	0.87478	2.207000	0.71202	0.528000	0.53228	CTT	-	DK2	-	pirsf_ATP-D-like_euk		0.284	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	DK2	HGNC	protein_coding	OTTHUMT00000367541.1	0	0	0	105	105	42	0.00	0.00	A	NM_153013	Missense_Mutation	36227666	-1	16	7	134	87	tier1	no_errors	ENST00000381937	ensembl	human	putative	74_37	missense	10.67	7.45	SNP	1.000	C	16	134
SLC23A1	9963	genome.wustl.edu	37	5	138716376	138716376	+	Intron	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:138716376G>A	ENST00000348729.3	-	5	444				SLC23A1_ENST00000353963.3_Intron|SLC23A1_ENST00000503919.1_5'UTR	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1						brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGAGAGGGAGAGAAGATGCT	0.577													ENSG00000170482																																					0													43.0	44.0	43.0					5																	138716376		692	1591	2283	SO:0001627	intron_variant	0			-	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.398-55C>T	5.37:g.138716376G>A			O95191|Q8WWB6|Q9UGH4|Q9UI39	R	SNP	-	NULL	ENST00000348729.3	37	NULL	CCDS4212.1	5																																																																																			-	SLC23A1	-	-		0.577	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	SLC23A1	HGNC	protein_coding	OTTHUMT00000374185.1	0	0	0	50	50	53	0.00	0.00	G	NM_152685		138716376	-1	8	4	59	82	tier1	no_errors	ENST00000503919	ensembl	human	known	74_37	rna	11.94	4.65	SNP	0.000	A	8	59
ECHDC2	55268	genome.wustl.edu	37	1	53364884	53364884	+	Missense_Mutation	SNP	C	C	T	rs374095939		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:53364884C>T	ENST00000371522.4	-	8	808	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	ECHDC2_ENST00000536120.1_Missense_Mutation_p.V193M|ECHDC2_ENST00000358358.5_Missense_Mutation_p.V208M	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	239					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CCCAGCCGCACGGCAATGGGG	0.552													ENSG00000121310																																					0								C	MET/VAL,,MET/VAL	0,4406		0,0,2203	79.0	71.0	73.0		715,,622	5.2	1.0	1		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	ECHDC2	NM_001198961.1,NM_001198962.1,NM_018281.3	21,,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	239/293,,208/262	53364884	1,13005	2203	4300	6503	SO:0001583	missense	0			-	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.715G>A	1.37:g.53364884C>T	ENSP00000360577:p.Val239Met		D3DQ36|Q9NV38	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.V239M	ENST00000371522.4	37	c.715	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713979	0.68730	0.0	1.16E-4	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000536120	T;T;T	0.69040	-0.37;-0.37;-0.37	5.18	5.18	0.71444	Crontonase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81118	-0.1078	10	0.48119	T	0.1	.	15.7147	0.77658	0.0:1.0:0.0:0.0	.	239;208	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	M	239;208;193	ENSP00000360577:V239M;ENSP00000351125:V208M;ENSP00000439264:V193M	ENSP00000351125:V208M	V	-	1	0	ECHDC2	53137472	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.370000	0.44240	2.692000	0.91855	0.491000	0.48974	GTG	-	ECHDC2	-	NULL		0.552	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	0	0	0	50	50	86	0.00	0.00	C	NM_018281		53364884	-1	8	7	47	103	tier1	no_errors	ENST00000371522	ensembl	human	known	74_37	missense	14.55	6.36	SNP	1.000	T	8	47
NEGR1	257194	genome.wustl.edu	37	1	71873148	71873148	+	Missense_Mutation	SNP	T	T	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:71873148T>G	ENST00000357731.5	-	7	1285	c.1046A>C	c.(1045-1047)aAg>aCg	p.K349T	ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|ZRANB2-AS2_ENST00000608579.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|NEGR1_ENST00000306821.3_Missense_Mutation_p.K221T|NEGR1_ENST00000434200.1_Missense_Mutation_p.K303T|ZRANB2-AS2_ENST00000585415.1_RNA|ZRANB2-AS2_ENST00000590186.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	349					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AATGGCATTCTTCAGGTAGAA	0.423													ENSG00000172260																																					0													84.0	84.0	84.0					1																	71873148		2203	4300	6503	SO:0001583	missense	0			-	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1046A>C	1.37:g.71873148T>G	ENSP00000350364:p.Lys349Thr		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K349T	ENST00000357731.5	37	c.1046	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387548	0.61956	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.75050	0.52;0.68;-0.9	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.41442	0.1159	N	0.08118	0	0.45979	D	0.998792	P;P	0.43477	0.808;0.808	B;B	0.33295	0.161;0.161	T	0.60342	-0.7282	10	0.87932	D	0	-10.7955	16.1154	0.81302	0.0:0.0:0.0:1.0	.	303;349	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	T	349;221;303	ENSP00000350364:K349T;ENSP00000305938:K221T;ENSP00000413294:K303T	ENSP00000305938:K221T	K	-	2	0	NEGR1	71645736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.210000	0.71456	0.533000	0.62120	AAG	-	NEGR1	-	NULL		0.423	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	0	0	0	62	62	36	0.00	0.00	T	NM_173808		71873148	-1	10	7	73	69	tier1	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	12.05	9.21	SNP	1.000	G	10	73
WWP1	11059	genome.wustl.edu	37	8	87473537	87473537	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:87473537G>A	ENST00000517970.1	+	23	2891	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	WWP1_ENST00000349423.2_Missense_Mutation_p.A644T|WWP1_ENST00000341922.2_Missense_Mutation_p.A732T|WWP1_ENST00000265428.4_Missense_Mutation_p.A862T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	862	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGGAGGATTTGCTGAGCTCAT	0.363													ENSG00000123124																																					0													158.0	147.0	150.0					8																	87473537		2203	4300	6503	SO:0001583	missense	0			-	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2584G>A	8.37:g.87473537G>A	ENSP00000427793:p.Ala862Thr		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.A862T	ENST00000517970.1	37	c.2584	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.168868	0.94768	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	5.12	5.12	0.69794	HECT (4);	0.119842	0.64402	D	0.000020	T	0.76154	0.3948	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.78540	-0.2165	10	0.62326	D	0.03	.	18.9297	0.92560	0.0:0.0:1.0:0.0	.	862	Q9H0M0	WWP1_HUMAN	T	862;862;732;644;28	ENSP00000427793:A862T;ENSP00000265428:A862T;ENSP00000340564:A732T;ENSP00000342665:A644T;ENSP00000430228:A28T	ENSP00000265428:A862T	A	+	1	0	WWP1	87542653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.540000	0.85666	0.650000	0.86243	GCT	-	WWP1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.363	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1	0	0	0	62	62	45	0.00	0.00	G	NM_007013		87473537	+1	7	4	59	64	tier1	no_errors	ENST00000265428	ensembl	human	known	74_37	missense	10.61	5.88	SNP	1.000	A	7	59
UGT1A5	54579	genome.wustl.edu	37	2	234622355	234622356	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	AG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:234622355_234622356insAG	ENST00000373414.3	+	1	718_719	c.718_719insAG	c.(718-720)cagfs	p.Q240fs	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Frame_Shift_Ins_p.Q240fs|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	240						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGAGCTTTTTCAGAGAGAGGTG	0.525													ENSG00000240224																																					0																																										SO:0001589	frameshift_variant	0				M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.725_726dupAG	2.37:g.234622362_234622363dupAG	ENSP00000362513:p.Gln240fs		B8K294	Frame_Shift_Ins	INS	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V243fs	ENST00000373414.3	37	c.718_719	CCDS33404.1	2																																																																																				UGT1A5	-	pfam_UDP_glucos_trans		0.525	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	0	0	0	77	77	60	0.00	0.00	-	NM_019078		234622356	+1	8	5	73	69	tier1	no_errors	ENST00000373414	ensembl	human	known	74_37	frame_shift_ins	9.88	6.76	INS	0.009:0.032	AG	8	73
DENND6A	201627	genome.wustl.edu	37	3	57619022	57619023	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:57619022_57619023insA	ENST00000311128.5	-	15	1392_1393	c.1322_1323insT	c.(1321-1323)ttgfs	p.L441fs	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	441					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L441fs*3(1)									GTGTCAGTTCCAAAAAATAGCG	0.332													ENSG00000174839																																					1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1323dupT	3.37:g.57619028_57619028dupA	ENSP00000311401:p.Leu441fs		Q7Z5T4|Q8N235|Q8TEG8	Frame_Shift_Ins	INS	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	p.L441fs	ENST00000311128.5	37	c.1323_1322	CCDS33773.1	3																																																																																				DENND6A	-	pfam_Afi1_N		0.332	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1	0	0	0	142	142	76	0.00	0.00	-	NM_152678		57619023	-1	12	5	99	94	tier1	no_errors	ENST00000311128	ensembl	human	known	74_37	frame_shift_ins	10.81	5.05	INS	1.000:1.000	A	12	99
EXPH5	23086	genome.wustl.edu	37	11	108384793	108384793	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:108384793delA	ENST00000265843.4	-	6	1551	c.1441delT	c.(1441-1443)tggfs	p.W481fs	EXPH5_ENST00000525344.1_Frame_Shift_Del_p.W474fs|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.W405fs|EXPH5_ENST00000443411.1_Frame_Shift_Del_p.W293fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	481					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTTGGCCCCAAAAAGGACCT	0.428													ENSG00000110723																																					0													101.0	102.0	102.0					11																	108384793		2201	4298	6499	SO:0001589	frameshift_variant	0					CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1441delT	11.37:g.108384793delA	ENSP00000265843:p.Trp481fs		Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.W481fs	ENST00000265843.4	37	c.1441	CCDS8341.1	11																																																																																				EXPH5	-	NULL		0.428	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	0	0	0	42	42	67	0.00	0.00	A	NM_015065		108384793	-1	5	6	36	77	tier1	no_errors	ENST00000265843	ensembl	human	known	74_37	frame_shift_del	12.20	7.23	DEL	0.808	-	5	36
FJX1	24147	genome.wustl.edu	37	11	35642248	35642249	+	3'UTR	DEL	AA	AA	-	rs201586899|rs3834431|rs532787003	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:35642248_35642249delAA	ENST00000317811.4	+	0	2514_2515				FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)						retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CACCAGAAGGAAAAAAAAAAAT	0.297													ENSG00000179431		1807	0.360823	0.8169	0.255	5008	,	,		15107	0.0942		0.2922	False		,,,				2504	0.1646				Melanoma(161;10 2587 27165 47356)												0																																										SO:0001624	3_prime_UTR_variant	0				AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.*751AA>-	11.37:g.35642256_35642257delAA			B2RCA9|Q9UGK6	R	DEL	-	NULL	ENST00000317811.4	37	NULL	CCDS44570.1	11																																																																																				FJX1	-	-		0.297	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FJX1	HGNC	protein_coding	OTTHUMT00000389078.1	0	0	0	92	92	39	0.00	0.00	AA	NM_014344		35642249	+1	16	4	57	37	tier1	no_errors	ENST00000532914	ensembl	human	putative	74_37	rna	21.92	9.76	DEL	0.000:0.000	-	16	57
RNF220	55182	genome.wustl.edu	37	1	45116990	45116993	+	3'UTR	DEL	CTCT	CTCT	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	CTCT	CTCT	CTCT	-	CTCT	CTCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:45116990_45116993delCTCT	ENST00000355387.2	+	0	2694_2697				RNF220_ENST00000361799.2_3'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000372247.2_3'UTR|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'Flank			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GGGTACCTGCCTCTCTCTCTCCTG	0.544													ENSG00000187147																																					0																																										SO:0001624	3_prime_UTR_variant	0				AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.*546CTCT>-	1.37:g.45116994_45116997delCTCT			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	R	DEL	-	NULL	ENST00000355387.2	37	NULL	CCDS510.1	1																																																																																				RNF220	-	-		0.544	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	0	0	0	71	71	50	0.00	0.00	CTCT	NM_018150		45116993	+1	14	6	47	57	tier1	no_errors	ENST00000474064	ensembl	human	known	74_37	rna	22.95	9.52	DEL	0.930:0.655:0.637:0.201	-	14	47
ZNF131	7690	genome.wustl.edu	37	5	43161952	43161952	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:43161952delA	ENST00000399534.1	+	5	1017	c.973delA	c.(973-975)aaafs	p.K326fs	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Frame_Shift_Del_p.K292fs|ZNF131_ENST00000509156.1_Frame_Shift_Del_p.K326fs|ZNF131_ENST00000509634.1_Frame_Shift_Del_p.K292fs|ZNF131_ENST00000505606.2_Frame_Shift_Del_p.K292fs			P52739	ZN131_HUMAN	zinc finger protein 131	326					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAGAACTGGGAAAAAAATTCA	0.363													ENSG00000172262																																					0													61.0	57.0	58.0					5																	43161952		1865	4104	5969	SO:0001589	frameshift_variant	0				U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.973delA	5.37:g.43161952delA	ENSP00000382450:p.Lys326fs		B4DRL3|Q6PIF0	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I327fs	ENST00000399534.1	37	c.973		5																																																																																				ZNF131	-	NULL		0.363	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	0	0	0	24	24	39	0.00	0.00	A	NM_003432		43161952	+1	5	4	27	91	tier1	no_errors	ENST00000399534	ensembl	human	known	74_37	frame_shift_del	15.62	4.21	DEL	1.000	-	5	27
FPGT	8790	genome.wustl.edu	37	1	74670596	74670597	+	Frame_Shift_Ins	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:74670596_74670597insA	ENST00000609362.1	+	4	902_903	c.865_866insA	c.(865-867)gaafs	p.E289fs	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Frame_Shift_Ins_p.E302fs|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	289					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGCTTTTTATGAAAAAATAGGC	0.391													ENSG00000254685																																					0																																										SO:0001589	frameshift_variant	0				AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.871dupA	1.37:g.74670602_74670602dupA	ENSP00000476680:p.Glu289fs		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Frame_Shift_Ins	INS	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.I304fs	ENST00000609362.1	37	c.904_905	CCDS663.1	1																																																																																				FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase		0.391	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		0	0	0	59	59	41	0.00	0.00	-			74670597	+1	9	4	62	65	tier1	no_errors	ENST00000370898	ensembl	human	known	74_37	frame_shift_ins	12.68	5.80	INS	0.995:0.991	A	9	62
TMEM41B	440026	genome.wustl.edu	37	11	9308018	9308018	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:9308018delA	ENST00000528080.1	-	6	1028	c.690delT	c.(688-690)tttfs	p.F230fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	230					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		AAGTACCAATAAAAAAAACTT	0.363													ENSG00000166471																																					0													121.0	119.0	119.0					11																	9308018		2201	4296	6497	SO:0001589	frameshift_variant	0				D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.690delT	11.37:g.9308018delA	ENSP00000433126:p.Phe230fs		D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Del	DEL	pfam_SRE_assoc	p.F230fs	ENST00000528080.1	37	c.690	CCDS31424.1	11																																																																																				TMEM41B	-	pfam_SRE_assoc		0.363	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM41B	HGNC	protein_coding	OTTHUMT00000385940.2	0	0	0	92	92	77	0.00	0.00	A			9308018	-1	10	8	89	76	tier1	no_errors	ENST00000299596	ensembl	human	known	74_37	frame_shift_del	10.10	9.52	DEL	1.000	-	10	89
GPALPP1	55425	genome.wustl.edu	37	13	45580382	45580383	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr13:45580382_45580383insT	ENST00000379151.4	+	3	370_371	c.267_268insT	c.(268-270)tttfs	p.F90fs	GPALPP1_ENST00000361121.2_Frame_Shift_Ins_p.F90fs|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_5'UTR	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	90																	atgatgatgGGTTTTTTGGACC	0.327													ENSG00000133114																																					0																																										SO:0001589	frameshift_variant	0				AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.273dupT	13.37:g.45580388_45580388dupT	ENSP00000368447:p.Phe90fs		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Ins	INS	pfam_DUF3752	p.G91fs	ENST00000379151.4	37	c.267_268	CCDS9394.1	13																																																																																				GPALPP1	-	NULL		0.327	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding	OTTHUMT00000044749.2	0	0	0	140	140	45	0.00	0.00	-	NM_018559		45580383	+1	20	4	151	54	tier1	no_errors	ENST00000361121	ensembl	human	known	74_37	frame_shift_ins	11.70	6.90	INS	0.677:0.993	T	20	151
ANXA1	301	genome.wustl.edu	37	9	75773648	75773648	+	Missense_Mutation	SNP	C	C	T	rs376171580		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:75773648C>T	ENST00000376911.1	+	2	986	c.104C>T	c.(103-105)gCg>gTg	p.A35V	ANXA1_ENST00000257497.6_Missense_Mutation_p.A35V			P04083	ANXA1_HUMAN	annexin A1	35					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CCCGGATCAGCGGTGAGCCCC	0.418													ENSG00000135046																																					0								C	VAL/ALA	0,4406		0,0,2203	74.0	71.0	72.0		104	5.2	0.9	9		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANXA1	NM_000700.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	35/347	75773648	1,13005	2203	4300	6503	SO:0001583	missense	0			-	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.104C>T	9.37:g.75773648C>T	ENSP00000366109:p.Ala35Val			Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI	p.A35V	ENST00000376911.1	37	c.104	CCDS6645.1	9	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533866	0.45073	0.0	1.16E-4	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.24	5.24	0.73138	.	0.277449	0.41823	D	0.000805	T	0.04318	0.0119	N	0.14661	0.345	0.32050	N	0.597082	B	0.11235	0.004	B	0.08055	0.003	T	0.08868	-1.0701	10	0.72032	D	0.01	.	15.4809	0.75524	0.0:0.8611:0.1389:0.0	.	35	P04083	ANXA1_HUMAN	V	35;46;35;35	ENSP00000257497:A35V;ENSP00000412489:A46V;ENSP00000414013:A35V;ENSP00000366109:A35V	ENSP00000257497:A35V	A	+	2	0	ANXA1	74963468	0.997000	0.39634	0.931000	0.37212	0.190000	0.23558	4.961000	0.63681	2.607000	0.88179	0.655000	0.94253	GCG	-	ANXA1	-	NULL		0.418	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA1	HGNC	protein_coding	OTTHUMT00000052665.1	0	0	1	22	22	43	0.00	2.27	C	NM_000700		75773648	+1	22	26	29	47	tier1	no_errors	ENST00000257497	ensembl	human	known	74_37	missense	43.14	35.62	SNP	0.970	T	22	29
SOAT2	8435	genome.wustl.edu	37	12	53509269	53509269	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:53509269C>T	ENST00000301466.3	+	6	599	c.539C>T	c.(538-540)gCg>gTg	p.A180V		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	180					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACCCTGTTGGCGCCGTACCAG	0.672													ENSG00000167780																																					0													46.0	46.0	46.0					12																	53509269		2203	4300	6503	SO:0001583	missense	0			-	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.539C>T	12.37:g.53509269C>T	ENSP00000301466:p.Ala180Val		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.A180V	ENST00000301466.3	37	c.539	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	C	5.298	0.240320	0.10023	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.73363	2.59;-0.74	5.61	-10.0	0.00425	.	0.842743	0.10580	N	0.658004	T	0.36936	0.0985	N	0.00742	-1.23	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52208	-0.8606	10	0.02654	T	1	0.0423	21.523	0.99955	0.0:0.1227:0.0:0.8773	.	180	O75908	SOAT2_HUMAN	V	160;180	ENSP00000450120:A160V;ENSP00000301466:A180V	ENSP00000301466:A180V	A	+	2	0	SOAT2	51795536	0.011000	0.17503	0.026000	0.17262	0.695000	0.40330	-0.023000	0.12456	-2.135000	0.00811	-1.105000	0.02106	GCG	-	SOAT2	-	pfam_MBOAT_fam		0.672	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	0	0	1	33	33	39	0.00	2.50	C			53509269	+1	5	18	8	24	tier1	no_errors	ENST00000301466	ensembl	human	known	74_37	missense	38.46	42.86	SNP	0.042	T	5	8
DPY19L2P1	554236	genome.wustl.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TGGCACCTGCGAAGACAGCAT	0.388													ENSG00000189212																																					0																																												0			-	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131548G>A			B4E2E3	R	SNP	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			-	DPY19L2P1	-	-		0.388	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	0	0	1	39	39	35	0.00	2.78	G			35131548	-1	15	8	78	68	tier1	no_errors	ENST00000436258	ensembl	human	known	74_37	rna	16.13	10.53	SNP	0.985	A	15	78
CCDC132	55610	genome.wustl.edu	37	7	92902025	92902025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:92902025C>T	ENST00000305866.5	+	11	909	c.781C>T	c.(781-783)Cga>Tga	p.R261*	CCDC132_ENST00000544910.1_Nonsense_Mutation_p.R231*|CCDC132_ENST00000541136.1_Nonsense_Mutation_p.R72*|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.R261*|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Intron	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	261						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAAGCTTATCGACTTCTTGG	0.323													ENSG00000004766																																					0													77.0	74.0	75.0					7																	92902025		2203	4298	6501	SO:0001587	stop_gained	0			-	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.781C>T	7.37:g.92902025C>T	ENSP00000307666:p.Arg261*		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.R261*	ENST00000305866.5	37	c.781	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414318	0.83449	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136	.	.	.	5.64	2.63	0.31362	.	0.121474	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-24.1895	14.5196	0.67842	0.5412:0.4588:0.0:0.0	.	.	.	.	X	261;261;231;72	.	ENSP00000251739:R261X	R	+	1	2	CCDC132	92739961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.001000	0.49488	0.826000	0.34661	-0.158000	0.13435	CGA	-	CCDC132	-	pfam_Vacuolar_sorting-assoc_54		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	0	0	1	40	40	36	0.00	2.70	C	NM_017667		92902025	+1	18	39	47	63	tier1	no_errors	ENST00000305866	ensembl	human	known	74_37	nonsense	27.69	38.24	SNP	1.000	T	18	47
CUL1	8454	genome.wustl.edu	37	7	148463663	148463663	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr7:148463663G>A	ENST00000325222.4	+	8	1079	c.800G>A	c.(799-801)cGt>cAt	p.R267H	CUL1_ENST00000409469.1_Missense_Mutation_p.R267H|CUL1_ENST00000602748.1_Missense_Mutation_p.R267H	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	267					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCAGAGGCTCGTCTGCTTGAG	0.348													ENSG00000055130																																					0													52.0	52.0	52.0					7																	148463663		2203	4300	6503	SO:0001583	missense	0			-	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.800G>A	7.37:g.148463663G>A	ENSP00000326804:p.Arg267His		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R267H	ENST00000325222.4	37	c.800	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829772	0.91036	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.36340	1.26;1.26	4.81	4.81	0.61882	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	H	0.97390	3.995	0.80722	D	1	P	0.47106	0.89	B	0.42798	0.398	T	0.78974	-0.1992	10	0.87932	D	0	0.4944	18.2561	0.90020	0.0:0.0:1.0:0.0	.	267	Q13616	CUL1_HUMAN	H	267;267;225;194	ENSP00000387160:R267H;ENSP00000326804:R267H	ENSP00000326804:R267H	R	+	2	0	CUL1	148094596	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.506000	0.97992	2.370000	0.80446	0.655000	0.94253	CGT	-	CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.348	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	0	0	0	168	168	36	0.00	0.00	G	NM_003592		148463663	+1	36	11	153	30	tier1	no_errors	ENST00000325222	ensembl	human	known	74_37	missense	18.37	26.83	SNP	1.000	A	36	153
CENPH	64946	genome.wustl.edu	37	5	68492902	68492902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:68492902delA	ENST00000283006.2	+	5	424	c.337delA	c.(337-339)aaafs	p.K114fs	CENPH_ENST00000515001.1_Intron	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AACTGCACTTAAAAAAAACCT	0.323													ENSG00000153044																																					0													51.0	55.0	54.0					5																	68492902		2203	4300	6503	SO:0001589	frameshift_variant	0				AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.337delA	5.37:g.68492902delA	ENSP00000283006:p.Lys114fs			Frame_Shift_Del	DEL	pfam_CENP-H	p.N115fs	ENST00000283006.2	37	c.337	CCDS3998.1	5																																																																																				CENPH	-	NULL		0.323	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	HGNC	protein_coding	OTTHUMT00000215083.1	0	0	0	96	96	41	0.00	0.00	A			68492902	+1	17	15	69	66	tier1	no_errors	ENST00000283006	ensembl	human	known	74_37	frame_shift_del	19.77	18.52	DEL	0.089	-	17	69
SETD1B	23067	genome.wustl.edu	37	12	122242658	122242658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:122242658delC	ENST00000604567.1	+	2	83	c.15delC	c.(13-15)cacfs	p.H5fs	SETD1B_ENST00000267197.5_Frame_Shift_Del_p.H5fs|SETD1B_ENST00000542440.1_Frame_Shift_Del_p.H5fs|RHOF_ENST00000545544.1_5'Flank|RP11-347I19.8_ENST00000609067.1_lincRNA			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGAACAGTCACCCCCCCCACC	0.632													ENSG00000139718																																					2	Deletion - Frameshift(2)	large_intestine(2)											37.0	44.0	42.0					12																	122242658		692	1591	2283	SO:0001589	frameshift_variant	0				AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.15delC	12.37:g.122242658delC	ENSP00000474253:p.His5fs		F6MFW1	Frame_Shift_Del	DEL	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.15		12																																																																																				SETD1B	-	NULL		0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	1	1	0	128	128	54	0.78	0.00	C	XM_037523		122242658	+1	31	20	53	28	tier1	no_errors	ENST00000267197	ensembl	human	known	74_37	frame_shift_del	36.90	41.67	DEL	1.000	-	31	53
LHX1	3975	genome.wustl.edu	37	17	35300394	35300395	+	Frame_Shift_Ins	INS	-	-	C	rs376578880		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:35300394_35300395insC	ENST00000254457.5	+	5	2598_2599	c.1187_1188insC	c.(1186-1191)caccccfs	p.HP396fs	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	396					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E399fs*>9(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACCTGTCCCACCCCCCCGAAA	0.599													ENSG00000132130																																					1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.1194dupC	17.37:g.35300401_35300401dupC	ENSP00000254457:p.His396fs		Q3MIW0	Frame_Shift_Ins	INS	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.E399fs	ENST00000254457.5	37	c.1187_1188	CCDS11316.1	17																																																																																				LHX1	-	NULL		0.599	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	0	0	0	56	56	72	0.00	0.00	-	NM_005568		35300395	+1	15	10	31	58	tier1	no_errors	ENST00000254457	ensembl	human	known	74_37	frame_shift_ins	32.61	14.71	INS	1.000:1.000	C	15	31
SULT6B1	391365	genome.wustl.edu	37	2	37414553	37414553	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:37414553delT	ENST00000535679.1	-	2	256	c.257delA	c.(256-258)aagfs	p.K86fs	SULT6B1_ENST00000260637.3_Frame_Shift_Del_p.K48fs|SULT6B1_ENST00000407963.1_Frame_Shift_Del_p.K48fs|SULT6B1_ENST00000379149.2_Frame_Shift_Del_p.K86fs			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	86						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATATTTATACTTTTTTTTAGA	0.323													ENSG00000138068																																					0													46.0	50.0	49.0					2																	37414553		2201	4294	6495	SO:0001589	frameshift_variant	0				AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.257delA	2.37:g.37414553delT	ENSP00000444081:p.Lys86fs		B2RTS7	Frame_Shift_Del	DEL	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K86fs	ENST00000535679.1	37	c.257		2																																																																																				SULT6B1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.323	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		0	0	0	175	175	51	0.00	0.00	T	NM_001032377		37414553	-1	60	26	108	58	tier1	no_errors	ENST00000535679	ensembl	human	known	74_37	frame_shift_del	35.71	30.95	DEL	0.944	-	60	108
BEND5	79656	genome.wustl.edu	37	1	49201967	49201967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:49201967delT	ENST00000371833.3	-	5	1138	c.1052delA	c.(1051-1053)aagfs	p.K352fs	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	352	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TGCATCTTTCTTTTTTTTTGT	0.463													ENSG00000162373																																					0													152.0	142.0	145.0					1																	49201967		2203	4300	6503	SO:0001589	frameshift_variant	0				BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1052delA	1.37:g.49201967delT	ENSP00000360899:p.Lys352fs		D3DQ27|Q96A62|Q9HAI3	Frame_Shift_Del	DEL	pfam_BEN_domain	p.K351fs	ENST00000371833.3	37	c.1052	CCDS552.2	1																																																																																				BEND5	-	pfam_BEN_domain		0.463	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	0	0	1	27	27	27	0.00	3.57	T	NM_024603		49201967	-1	17	14	43	25	tier1	no_errors	ENST00000371833	ensembl	human	known	74_37	frame_shift_del	28.33	35.90	DEL	1.000	-	17	43
ANKRD60	140731	genome.wustl.edu	37	20	56803402	56803402	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:56803402G>A	ENST00000457363.1	-	1	307	c.308C>T	c.(307-309)aCg>aTg	p.T103M				Q9BZ19	ANR60_HUMAN	ankyrin repeat domain 60	103	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									kidney(1)	1						CATCTCCCCCGTCTCCTCCAG	0.677													ENSG00000124227																																					0													12.0	19.0	17.0					20																	56803402		691	1588	2279	SO:0001583	missense	0			-	AL354776		20q13.32	2013-01-10	2008-03-25	2008-03-25	ENSG00000124227	ENSG00000124227		"""Ankyrin repeat domain containing"""	16217	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 86"""	C20orf86			Standard	XM_006710087		Approved	bA196N14.3		Q9BZ19	OTTHUMG00000032837	ENST00000457363.1:c.308C>T	20.37:g.56803402G>A	ENSP00000396747:p.Thr103Met		Q4VXE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin_supergroup	p.T103M	ENST00000457363.1	37	c.308		20	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920445	0.52653	.	.	ENSG00000124227	ENST00000457363	T	0.74002	-0.8	3.5	3.5	0.40072	.	.	.	.	.	T	0.76821	0.4041	.	.	.	0.30168	N	0.801523	.	.	.	.	.	.	T	0.75062	-0.3450	6	0.48119	T	0.1	.	13.2719	0.60165	0.0:0.0:1.0:0.0	.	.	.	.	M	103	ENSP00000396747:T103M	ENSP00000396747:T103M	T	-	2	0	ANKRD60	56236808	0.995000	0.38212	0.965000	0.40720	0.297000	0.27493	3.123000	0.50453	1.942000	0.56320	0.491000	0.48974	ACG	-	ANKRD60	-	pfscan_Ubiquitin_supergroup		0.677	ANKRD60-201	KNOWN	basic|appris_principal	protein_coding	ANKRD60	HGNC	protein_coding		1	1	0	125	125	15	0.79	0.00	G	XM_001134442		56803402	-1	8	0	59	2	tier1	no_errors	ENST00000457363	ensembl	human	known	74_37	missense	11.59	0.00	SNP	0.994	A	8	59
CHRFAM7A	89832	genome.wustl.edu	37	15	30664359	30664361	+	In_Frame_Del	DEL	TCT	TCT	-	rs199908464	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:30664359_30664361delTCT	ENST00000299847.2	-	7	965_967	c.512_514delAGA	c.(511-516)aagatt>att	p.K171del	CHRFAM7A_ENST00000397827.3_In_Frame_Del_p.K80del|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_In_Frame_Del_p.K80del	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	171						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCCAGGGAAATCTTCTCCCCGGA	0.611													ENSG00000166664																																					0																																										SO:0001651	inframe_deletion	0				AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.512_514delAGA	15.37:g.30664362_30664364delTCT	ENSP00000299847:p.Lys171del		A8KAB9	In_Frame_Del	DEL	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.K171in_frame_del	ENST00000299847.2	37	c.514_512	CCDS32184.1	15																																																																																				CHRFAM7A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.611	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	0	0	0	20	20	6	0.00	0.00	TCT	NM_148911		30664361	-1	8	1	9	4	tier1	no_errors	ENST00000299847	ensembl	human	known	74_37	in_frame_del	47.06	20.00	DEL	1.000:1.000:1.000	-	8	9
AC011718.2	0	genome.wustl.edu	37	22	20640727	20640727	+	lincRNA	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr22:20640727G>A	ENST00000577456.1	-	0	833																											AATGCCGTGGGCAGCATCCTC	0.612													ENSG00000223579																																					0																																												0			-																													22.37:g.20640727G>A				R	SNP	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			-	AC011718.2	-	-		0.612	AC011718.2-004	KNOWN	basic	lincRNA	ENSG00000223579	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1	0	0	0	75	75	13	0.00	0.00	G			20640727	-1	7	0	52	7	tier1	no_errors	ENST00000577456	ensembl	human	known	74_37	rna	11.67	0.00	SNP	0.062	A	7	52
EPS8L1	54869	genome.wustl.edu	37	19	55594928	55594928	+	Intron	DEL	G	G	-	rs62619976	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:55594928delG	ENST00000201647.6	+	13	1412				EPS8L1_ENST00000245618.5_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000588359.1_Frame_Shift_Del_p.R120fs|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Frame_Shift_Del_p.R448fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1						positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGGGAAGTCCGGGGGCGCGGC	0.692													ENSG00000131037																									Ovarian(149;255 1863 3636 27051 29647)												0													6.0	8.0	7.0					19																	55594928		2121	4166	6287	SO:0001627	intron_variant	0				AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1356+41G>-	19.37:g.55594928delG			Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Del	DEL	pfam_PTB,superfamily_SH3_domain	p.R450fs	ENST00000201647.6	37	c.1343	CCDS12914.1	19																																																																																				EPS8L1	-	NULL		0.692	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	0	0	0	32	32	15	0.00	0.00	G	NM_017729		55594928	+1	4	0	23	1	tier1	no_errors	ENST00000586329	ensembl	human	novel	74_37	frame_shift_del	14.81	0.00	DEL	0.000	-	4	23
FGF17	8822	genome.wustl.edu	37	8	21905620	21905620	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:21905620G>A	ENST00000359441.3	+	5	1014	c.511G>A	c.(511-513)Gag>Aag	p.E171K	FGF17_ENST00000521709.1_3'UTR|FGF17_ENST00000518533.1_Missense_Mutation_p.E160K	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	171					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GAACCAGCGCGAGGCCCACTT	0.682													ENSG00000158815																																					0													25.0	26.0	26.0					8																	21905620		2203	4300	6503	SO:0001583	missense	0			-	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.511G>A	8.37:g.21905620G>A	ENSP00000352414:p.Glu171Lys		B7ZLG4|Q2M2W1	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.E171K	ENST00000359441.3	37	c.511	CCDS6019.1	8	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014975	0.54468	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	T;T	0.81163	-1.46;-1.46	5.06	4.17	0.49024	.	0.059974	0.64402	D	0.000004	T	0.78457	0.4286	M	0.85373	2.75	0.53688	D	0.99997	B;P	0.39759	0.125;0.687	B;B	0.36186	0.027;0.219	T	0.75863	-0.3167	10	0.18276	T	0.48	-31.4832	10.5159	0.44889	0.0947:0.0:0.9053:0.0	.	160;171	O60258-2;O60258	.;FGF17_HUMAN	K	160;171	ENSP00000431041:E160K;ENSP00000352414:E171K	ENSP00000352414:E171K	E	+	1	0	FGF17	21961566	1.000000	0.71417	0.814000	0.32528	0.092000	0.18411	7.394000	0.79862	2.362000	0.80069	0.655000	0.94253	GAG	-	FGF17	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam		0.682	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF17	HGNC	protein_coding	OTTHUMT00000214154.2	0	0	0	31	31	16	0.00	0.00	G	NM_003867		21905620	+1	5	1	20	8	tier1	no_errors	ENST00000359441	ensembl	human	known	74_37	missense	20.00	11.11	SNP	0.995	A	5	20
GPR123	84435	genome.wustl.edu	37	10	134942697	134942697	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:134942697delC	ENST00000392607.3	+	7	1801	c.1365delC	c.(1363-1365)agcfs	p.S455fs	GPR123_ENST00000607359.1_Frame_Shift_Del_p.S1174fs|GPR123_ENST00000392606.2_Frame_Shift_Del_p.S358fs	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	455					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCACAGACAGCCCCCCCAGCT	0.697													ENSG00000197177																																					0										13,3827		3,7,1910	9.0	11.0	11.0			4.8	1.0	10		11	14,7502		1,12,3745	no	frameshift	GPR123	NM_001083909.1		4,19,5655	A1A1,A1R,RR		0.1863,0.3385,0.2378			134942697	27,11329	2028	4038	6066	SO:0001589	frameshift_variant	0				AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.1365delC	10.37:g.134942697delC	ENSP00000376384:p.Ser455fs		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.S1177fs	ENST00000392607.3	37	c.3522	CCDS41580.1	10																																																																																				GPR123	-	NULL		0.697	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	0	0	0	17	17	9	0.00	0.00	C			134942697	+1	2	0	15	8	tier1	no_errors	ENST00000607359	ensembl	human	putative	74_37	frame_shift_del	11.76	0.00	DEL	1.000	-	2	15
HS6ST1	9394	genome.wustl.edu	37	2	129075797	129075797	+	Missense_Mutation	SNP	A	A	C	rs199993343		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:129075797A>C	ENST00000259241.6	-	1	354	c.341T>G	c.(340-342)gTg>gGg	p.V114G	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	114					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.V114G(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GTCGCACGGCACCTCGAGGCG	0.662													ENSG00000136720																																					1	Substitution - Missense(1)	liver(1)											2.0	4.0	3.0					2																	129075797		1196	3527	4723	SO:0001583	missense	0			-	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.341T>G	2.37:g.129075797A>C	ENSP00000259241:p.Val114Gly		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.V114G	ENST00000259241.6	37	c.341	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	a	15.67	2.902312	0.52227	.	.	ENSG00000136720	ENST00000259241	D	0.82526	-1.62	3.69	3.69	0.42338	.	0.000000	0.85682	U	0.000000	T	0.77452	0.4132	N	0.22421	0.69	0.80722	D	1	D	0.53462	0.96	P	0.51777	0.679	T	0.74592	-0.3614	9	.	.	.	.	10.2637	0.43443	1.0:0.0:0.0:0.0	.	114	O60243	H6ST1_HUMAN	G	114	ENSP00000259241:V114G	.	V	-	2	0	HS6ST1	128792267	0.855000	0.29742	1.000000	0.80357	0.942000	0.58702	0.276000	0.18716	1.308000	0.44962	0.260000	0.18958	GTG	rs199993343	HS6ST1	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	0	0	0	26	26	5	0.00	0.00	A	NM_004807		129075797	-1	3	1	14	3	tier1	no_errors	ENST00000259241	ensembl	human	known	74_37	missense	17.65	25.00	SNP	1.000	C	3	14
KIFC3	3801	genome.wustl.edu	37	16	57790824	57790824	+	IGR	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:57790824G>A	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Missense_Mutation_p.R645H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				AGTACCTTCCGCGAGCTGCAC	0.642													ENSG00000140854																																					0													15.0	12.0	13.0					16																	57790824		2164	4246	6410	SO:0001628	intergenic_variant	0			-	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57790824G>A			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R645H	ENST00000379655.4	37	c.1934	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567449	0.86439	.	.	ENSG00000140854	ENST00000379661	T	0.64991	-0.13	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.80396	0.4615	M	0.80422	2.495	0.53688	D	0.999977	D	0.89917	1.0	D	0.79784	0.993	D	0.83680	0.0171	10	0.87932	D	0	-19.2134	17.2403	0.87011	0.0:0.0:1.0:0.0	.	645	Q9BVA0	KTNB1_HUMAN	H	645	ENSP00000368982:R645H	ENSP00000368982:R645H	R	+	2	0	KATNB1	56348325	1.000000	0.71417	0.949000	0.38748	0.970000	0.65996	3.392000	0.52537	2.318000	0.78349	0.561000	0.74099	CGC	-	KATNB1	-	NULL		0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257329.2	0	0	0	55	55	11	0.00	0.00	G	NM_005550		57790824	+1	34	1	53	8	tier1	no_errors	ENST00000379661	ensembl	human	known	74_37	missense	38.64	11.11	SNP	0.996	A	34	53
KCNA5	3741	genome.wustl.edu	37	12	5153711	5153711	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:5153711C>T	ENST00000252321.3	+	1	627	c.398C>T	c.(397-399)aCg>aTg	p.T133M		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	133					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.T133R(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CGCTTTGAGACGCAGCTGGGC	0.677													ENSG00000130037																																					1	Substitution - Missense(1)	endometrium(1)											30.0	30.0	30.0					12																	5153711		2203	4300	6503	SO:0001583	missense	0			-	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.398C>T	12.37:g.5153711C>T	ENSP00000252321:p.Thr133Met		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.T133M	ENST00000252321.3	37	c.398	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030872	0.75504	.	.	ENSG00000130037	ENST00000252321	T	0.80824	-1.42	4.7	4.7	0.59300	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	D	0.92954	0.7758	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95153	0.8274	10	0.87932	D	0	.	16.8208	0.85745	0.0:1.0:0.0:0.0	.	133	P22460	KCNA5_HUMAN	M	133	ENSP00000252321:T133M	ENSP00000252321:T133M	T	+	2	0	KCNA5	5023972	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.592000	0.82676	2.443000	0.82685	0.511000	0.50034	ACG	-	KC5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1.5		0.677	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KC5	HGNC	protein_coding	OTTHUMT00000398925.2	0	0	0	64	64	11	0.00	0.00	C	NM_002234		5153711	+1	20	0	35	5	tier1	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	36.36	0.00	SNP	1.000	T	20	35
KNDC1	85442	genome.wustl.edu	37	10	135015334	135015334	+	Missense_Mutation	SNP	G	G	A	rs558007261	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:135015334G>A	ENST00000304613.3	+	17	3340	c.3319G>A	c.(3319-3321)Gtc>Atc	p.V1107I	KNDC1_ENST00000368572.2_Missense_Mutation_p.V1109I|KNDC1_ENST00000368571.2_Missense_Mutation_p.V1042I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1107					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGGGGCCGACGTCCACAACTA	0.731													ENSG00000171798	.|||	2	0.000399361	0.0	0.0	5008	,	,		15097	0.0		0.0	False		,,,				2504	0.002																0													5.0	6.0	5.0					10																	135015334		2104	4140	6244	SO:0001583	missense	0			-	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3319G>A	10.37:g.135015334G>A	ENSP00000304437:p.Val1107Ile		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V1109I	ENST00000304613.3	37	c.3325	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049559	0.75846	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20881	2.04;2.04;2.04	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000019	T	0.44726	0.1307	M	0.66939	2.045	0.52501	D	0.999957	D;D;P	0.89917	0.999;1.0;0.858	D;D;B	0.81914	0.987;0.995;0.204	T	0.21484	-1.0244	10	0.40728	T	0.16	-35.0466	16.2702	0.82612	0.0:0.0:1.0:0.0	.	1107;1042;1107	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	I	1107;1109;1042	ENSP00000304437:V1107I;ENSP00000357561:V1109I;ENSP00000357560:V1042I	ENSP00000304437:V1107I	V	+	1	0	KNDC1	134865324	0.975000	0.34042	0.211000	0.23655	0.311000	0.27955	2.893000	0.48633	2.524000	0.85096	0.313000	0.20887	GTC	-	KNDC1	-	NULL		0.731	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	0	0	0	24	24	5	0.00	0.00	G	NM_152643		135015334	+1	7	0	26	6	tier1	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	21.21	0.00	SNP	0.989	A	7	26
LAMA5	3911	genome.wustl.edu	37	20	60891033	60891033	+	Missense_Mutation	SNP	G	G	A	rs370074478	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:60891033G>A	ENST00000252999.3	-	58	7904	c.7838C>T	c.(7837-7839)gCg>gTg	p.A2613V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCTGCGCCGCCTGGATGTG	0.692													ENSG00000130702	.|||	2	0.000399361	0.0015	0.0	5008	,	,		18006	0.0		0.0	False		,,,				2504	0.0																0									VAL/ALA	1,4369	2.1+/-5.4	0,1,2184	24.0	23.0	24.0		7838	-1.5	0.0	20		24	0,8564		0,0,4282	no	missense	LAMA5	NM_005560.3	64	0,1,6466	AA,AG,GG		0.0,0.0229,0.0077	benign	2613/3696	60891033	1,12933	2185	4282	6467	SO:0001583	missense	0			-	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7838C>T	20.37:g.60891033G>A	ENSP00000252999:p.Ala2613Val		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A2613V	ENST00000252999.3	37	c.7838	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	11.40	1.627951	0.28978	2.29E-4	0.0	ENSG00000130702	ENST00000252999	T	0.19532	2.14	4.24	-1.47	0.08772	.	0.752565	0.11809	U	0.527370	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	B	0.31040	0.305	B	0.16289	0.015	T	0.32241	-0.9914	10	0.25751	T	0.34	.	3.9864	0.09517	0.0:0.246:0.4027:0.3512	.	2613	O15230	LAMA5_HUMAN	V	2613	ENSP00000252999:A2613V	ENSP00000252999:A2613V	A	-	2	0	LAMA5	60324428	0.000000	0.05858	0.003000	0.11579	0.034000	0.12701	0.048000	0.14078	0.074000	0.16767	-0.742000	0.03525	GCG	-	LAMA5	-	NULL		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	0	0	0	71	71	6	0.00	0.00	G	NM_005560		60891033	-1	36	0	57	2	tier1	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	38.71	0.00	SNP	0.000	A	36	57
LINC00304	283860	genome.wustl.edu	37	16	89226823	89226823	+	lincRNA	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:89226823A>G	ENST00000321214.2	+	0	545					NR_024347.2		Q8N9R0	CP081_HUMAN	long intergenic non-protein coding RNA 304																		TCCTCACCCGAAGACCCCCCG	0.672													ENSG00000180422																																					0																																												0			-	AK094020		16q24.3	2012-11-19	2011-08-10	2011-08-10	ENSG00000180422	ENSG00000180422		"""Long non-coding RNAs"""	26713	non-coding RNA	RNA, long non-coding			"""chromosome 16 open reading frame 81"", ""non-protein coding RNA 304"""	C16orf81, NCRNA00304			Standard	NR_024347		Approved	FLJ36701	uc002fms.3	Q8N9R0	OTTHUMG00000175524		16.37:g.89226823A>G				R	SNP	-	NULL	ENST00000321214.2	37	NULL		16																																																																																			-	LINC00304	-	-		0.672	LINC00304-001	KNOWN	basic	lincRNA	LINC00304	HGNC	lincRNA	OTTHUMT00000430368.1	0	0	0	49	49	9	0.00	0.00	A	NR_024347		89226823	+1	8	0	46	3	tier1	no_errors	ENST00000321214	ensembl	human	known	74_37	rna	14.81	0.00	SNP	0.389	G	8	46
PCSK4	54760	genome.wustl.edu	37	19	1486915	1486915	+	Silent	SNP	G	G	A	rs146576658	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:1486915G>A	ENST00000300954.5	-	8	1066	c.1005C>T	c.(1003-1005)agC>agT	p.S335S	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGGCTTCGCTGTACCAGG	0.677													ENSG00000115257																																					0								G		0,4406		0,0,2203	68.0	60.0	63.0		1005	1.6	1.0	19	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	PCSK4	NM_017573.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		335/756	1486915	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1005C>T	19.37:g.1486915G>A				Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept	p.R331*	ENST00000300954.5	37	c.991	CCDS12069.2	19																																																																																			rs146576658	PCSK4	-	NULL		0.677	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK4	HGNC	protein_coding	OTTHUMT00000449703.1	0	0	0	84	84	8	0.00	0.00	G	NM_017573		1486915	-1	38	1	48	0	tier1	no_errors	ENST00000588195	ensembl	human	known	74_37	nonsense	44.19	100.00	SNP	1.000	A	38	48
NWD1	284434	genome.wustl.edu	37	19	16860994	16860994	+	Missense_Mutation	SNP	C	C	T	rs371297297		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:16860994C>T	ENST00000552788.1	+	4	1541	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	NWD1_ENST00000549814.1_Missense_Mutation_p.T514M|NWD1_ENST00000339803.6_Missense_Mutation_p.T379M|NWD1_ENST00000524140.2_Missense_Mutation_p.T514M|NWD1_ENST00000523826.1_Missense_Mutation_p.T308M|NWD1_ENST00000379808.3_Missense_Mutation_p.T514M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	514	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAAGGAGGACGCTGAGCCCG	0.647													ENSG00000188039																																					0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	41.0	40.0	40.0		1541	2.8	0.1	19		40	0,8600		0,0,4300	no	missense	NWD1	NM_001007525.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	514/1433	16860994	1,13005	2203	4300	6503	SO:0001583	missense	0			-	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1541C>T	19.37:g.16860994C>T	ENSP00000447224:p.Thr514Met		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T514M	ENST00000552788.1	37	c.1541		19	.	.	.	.	.	.	.	.	.	.	c	2.934	-0.220461	0.06061	2.27E-4	0.0	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.58797	0.32;0.37;0.32;0.31;0.37;0.36	5.04	2.82	0.32997	.	0.739047	0.12810	N	0.437285	T	0.40546	0.1121	L	0.49455	1.56	0.09310	N	0.999999	P;P;P	0.38280	0.491;0.625;0.487	B;B;B	0.27500	0.036;0.08;0.034	T	0.37079	-0.9721	10	0.41790	T	0.15	-9.9797	2.3502	0.04281	0.239:0.4991:0.1539:0.1081	.	514;514;379	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	379;514;514;514;308;514;379	ENSP00000428579:T514M;ENSP00000447548:T514M;ENSP00000369136:T514M;ENSP00000428955:T308M;ENSP00000447224:T514M;ENSP00000340159:T379M	ENSP00000340159:T379M	T	+	2	0	NWD1	16721994	0.344000	0.24827	0.118000	0.21660	0.017000	0.09413	0.901000	0.28445	1.113000	0.41760	0.549000	0.68633	ACG	-	NWD1	-	superfamily_P-loop_NTPase		0.647	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	0	0	0	71	71	11	0.00	0.00	C	NM_001007525		16860994	+1	9	1	51	9	tier1	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	15.00	10.00	SNP	0.187	T	9	51
MTCL1	23255	genome.wustl.edu	37	18	8786056	8786056	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr18:8786056C>T	ENST00000306329.11	+	6	2934	c.2934C>T	c.(2932-2934)caC>caT	p.H978H	SOGA2_ENST00000359865.3_Silent_p.H618H|SOGA2_ENST00000400050.3_Silent_p.H618H|SOGA2_ENST00000517570.1_Silent_p.H618H|SOGA2_ENST00000306285.7_5'UTR																							CCGGGAGCCACGGGCTGGGAG	0.736													ENSG00000168502																																					0													13.0	11.0	12.0					18																	8786056		2038	3905	5943	SO:0001819	synonymous_variant	0			-																												ENST00000306329.11:c.2934C>T	18.37:g.8786056C>T				Missense_Mutation	SNP	pfam_SOGA	p.R473W	ENST00000306329.11	37	c.1417		18																																																																																			-	SOGA2	-	NULL		0.736	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	0	0	0	47	47	8	0.00	0.00	C			8786056	+1	5	0	20	3	tier1	no_errors	ENST00000520495	ensembl	human	known	74_37	missense	20.00	0.00	SNP	1.000	T	5	20
TOR4A	54863	genome.wustl.edu	37	9	140173617	140173617	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr9:140173617G>A	ENST00000357503.2	+	2	672	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	159					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										GCGCTGCAGCGCGCGGTGTTC	0.647													ENSG00000198113																																					0													10.0	9.0	9.0					9																	140173617		2164	4262	6426	SO:0001583	missense	0			-	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.476G>A	9.37:g.140173617G>A	ENSP00000350102:p.Arg159His		A2BFA4	Missense_Mutation	SNP	pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R159H	ENST00000357503.2	37	c.476	CCDS7041.1	9	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491137	0.64074	.	.	ENSG00000198113	ENST00000357503	T	0.22336	1.96	4.46	3.56	0.40772	.	0.053343	0.64402	N	0.000001	T	0.42787	0.1218	M	0.71206	2.165	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.35500	-0.9786	10	0.72032	D	0.01	-11.6847	11.041	0.47831	0.093:0.0:0.907:0.0	.	159	Q9NXH8	CI167_HUMAN	H	159	ENSP00000350102:R159H	ENSP00000350102:R159H	R	+	2	0	C9orf167	139293438	1.000000	0.71417	0.747000	0.31113	0.346000	0.29079	5.215000	0.65241	0.988000	0.38734	0.561000	0.74099	CGC	-	TOR4A	-	pfam_Torsin,superfamily_P-loop_NTPase		0.647	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR4A	HGNC	protein_coding	OTTHUMT00000254711.1	0	0	0	21	21	10	0.00	0.00	G	NM_017723		140173617	+1	5	1	18	7	tier1	no_errors	ENST00000357503	ensembl	human	known	74_37	missense	21.74	12.50	SNP	0.992	A	5	18
ZNF385A	25946	genome.wustl.edu	37	12	54763922	54763922	+	3'UTR	DEL	G	G	-	rs563351038|rs3215379	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:54763922delG	ENST00000338010.5	-	0	1332				ZNF385A_ENST00000352268.6_3'UTR|ZNF385A_ENST00000394313.2_3'UTR|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551109.1_3'UTR|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000546970.1_3'UTR	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ATCTCGGGGTGGGGGGGGGGA	0.697													ENSG00000161642																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.*118C>-	12.37:g.54763922delG			B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	R	DEL	-	NULL	ENST00000338010.5	37	NULL	CCDS44911.1	12																																																																																				ZNF385A	-	-		0.697	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	0	0	0	15	15	6	0.00	0.00	G	NM_015481		54763922	-1	12	1	21	2	tier1	no_errors	ENST00000552382	ensembl	human	known	74_37	rna	36.36	33.33	DEL	1.000	-	12	21
C2orf27A	29798	genome.wustl.edu	37	2	132509237	132509237	+	Intron	SNP	A	A	G			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:132509237A>G	ENST00000355171.4	+	3	549					NM_013310.3	NP_037442.3	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27A											kidney(1)	1						TGCTGTGTAAATGTATTACAG	0.323													ENSG00000197927																																					0													82.0	63.0	69.0					2																	132509237		692	1590	2282	SO:0001627	intron_variant	0			-	AF038169	CCDS2168.1	2q21.2	2010-05-11	2009-04-02	2009-04-02	ENSG00000197927	ENSG00000197927			25077	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 27"""	C2orf27		9110174, 8619474	Standard	NM_013310		Approved		uc002ttf.1	Q580R0	OTTHUMG00000131666	ENST00000355171.4:c.28+79A>G	2.37:g.132509237A>G			O43575|Q2M1X0|Q52M10|Q86XG2	R	SNP	-	NULL	ENST00000355171.4	37	NULL	CCDS2168.1	2																																																																																			-	C2orf27A	-	-		0.323	C2orf27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf27A	HGNC	protein_coding	OTTHUMT00000254569.4	0	0	0	270	270	0	0.00	0.00	A	NM_013310		132509237	+1	87	0	205	0	tier1	no_errors	ENST00000463645	ensembl	human	putative	74_37	rna	29.79	0.00	SNP	0.226	G	87	205
CAPN15	6650	genome.wustl.edu	37	16	597434	597434	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr16:597434C>T	ENST00000219611.2	+	4	959	c.596C>T	c.(595-597)gCg>gTg	p.A199V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	199					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGCCTGCCGCGCCTCCACCT	0.756													ENSG00000103326																																					0													5.0	8.0	7.0					16																	597434		1964	3963	5927	SO:0001583	missense	0			-	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.596C>T	16.37:g.597434C>T	ENSP00000219611:p.Ala199Val		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A199V	ENST00000219611.2	37	c.596	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	c	6.353	0.433244	0.12045	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88664	-2.41	5.09	2.05	0.26809	.	1.146100	0.06776	U	0.784400	T	0.76765	0.4033	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.60078	-0.7333	10	0.18276	T	0.48	.	8.2089	0.31471	0.0:0.6303:0.2871:0.0826	.	199	O75808	CAN15_HUMAN	V	199	ENSP00000219611:A199V	ENSP00000219611:A199V	A	+	2	0	SOLH	537435	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	2.364000	0.44187	0.188000	0.20168	-1.652000	0.00757	GCG	-	CAPN15	-	NULL		0.756	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	0	0	0	9	9	4	0.00	0.00	C	NM_005632		597434	+1	5	1	7	3	tier1	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	41.67	25.00	SNP	0.006	T	5	7
CYP11B1	1584	genome.wustl.edu	37	8	143957223	143957223	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:143957223C>A	ENST00000292427.4	-	6	1058	c.1026G>T	c.(1024-1026)caG>caT	p.Q342H	CYP11B1_ENST00000517471.1_Missense_Mutation_p.Q342H|CYP11B1_ENST00000377675.3_Missense_Mutation_p.Q413H	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	342					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCAGGCTCTCCTGGCGCAGGG	0.647									Familial Hyperaldosteronism type I				ENSG00000160882																																					0													73.0	76.0	75.0					8																	143957223		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1026G>T	8.37:g.143957223C>A	ENSP00000292427:p.Gln342His		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.Q342H	ENST00000292427.4	37	c.1026	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	17.07	3.294095	0.60086	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69926	-0.44;-0.44;-0.44	4.42	2.55	0.30701	.	0.423728	0.19940	N	0.102676	T	0.76593	0.4009	M	0.72576	2.205	0.37840	D	0.929038	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.995	D;D;D;D;D	0.91635	0.984;0.99;0.99;0.999;0.979	T	0.77424	-0.2593	10	0.62326	D	0.03	.	6.8169	0.23835	0.0:0.6888:0.0:0.3112	.	413;342;342;342;58	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	H	342;342;413	ENSP00000292427:Q342H;ENSP00000428043:Q342H;ENSP00000366903:Q413H	ENSP00000292427:Q342H	Q	-	3	2	CYP11B1	143954225	0.544000	0.26441	1.000000	0.80357	0.777000	0.43975	0.780000	0.26760	0.974000	0.38366	0.555000	0.69702	CAG	-	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	0	0	0	59	59	0	0.00	0.00	C			143957223	-1	15	0	46	3	tier1	no_errors	ENST00000292427	ensembl	human	known	74_37	missense	24.59	0.00	SNP	1.000	A	15	46
DNAJC24	120526	genome.wustl.edu	37	11	31447933	31447934	+	3'UTR	INS	-	-	A	rs11304706|rs572692435	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:31447933_31447934insA	ENST00000536040.1	+	0	600_601				DNAJC24_ENST00000465995.1_Intron			Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24						chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						TGACAACATTTAAAAAAAAAAG	0.277													ENSG00000170946																																					0																																										SO:0001624	3_prime_UTR_variant	0				AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"""Heat shock proteins / DNAJ (HSP40)"""	26979	protein-coding gene	gene with protein product		611072	"""zinc finger, CSL-type containing 3"", ""DPH4 homolog (JJJ3, S. cerevisiae)"", ""DPH4, JJJ3 homolog (S. cerevisiae)"""	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000536040.1:c.*254->A	11.37:g.31447943_31447943dupA			A8K0V0|B1ALC1|I6L9B4	R	INS	-	NULL	ENST00000536040.1	37	NULL		11																																																																																				DJC24	-	-		0.277	DNAJC24-201	KNOWN	basic	protein_coding	DJC24	HGNC	protein_coding		0	0	0	33	33	1	0.00	0.00	-	NM_181706		31447934	+1	6	1	29	4	tier1	no_errors	ENST00000524747	ensembl	human	known	74_37	rna	17.14	20.00	INS	0.000:0.004	A	6	29
AK5	26289	genome.wustl.edu	37	1	77857157	77857158	+	Intron	DEL	TG	TG	-	rs66907899		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:77857157_77857158delTG	ENST00000354567.2	+	7	1154				AC095030.1_ENST00000408737.1_RNA|AK5_ENST00000344720.5_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5						ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						tatacacatatgtgtgtgtgta	0.238													ENSG00000221664																																					0																																										SO:0001627	intron_variant	0				AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.892-19508TG>-	1.37:g.77857165_77857166delTG			Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	R	DEL	-	NULL	ENST00000354567.2	37	NULL	CCDS675.1	1																																																																																				AC095030.1	-	-		0.238	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221664	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000026993.4	0	0	0	36	36	0	0.00	0.00	TG	NM_174858		77857158	-1	7	0	44	0	tier1	no_errors	ENST00000408737	ensembl	human	novel	74_37	rna	13.73	0.00	DEL	0.995:0.994	-	7	44
RP11-122L4.1	0	genome.wustl.edu	37	8	39418521	39418524	+	lincRNA	DEL	ACAC	ACAC	-	rs55952600|rs149857381|rs370187960		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	ACAC	ACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:39418521_39418524delACAC	ENST00000518465.1	+	0	1360				AC123767.1_ENST00000516367.1_RNA																							acatacacatacacacacacacac	0.294													ENSG00000252176																																					0																																												0																																8.37:g.39418529_39418532delACAC				R	DEL	-	NULL	ENST00000518465.1	37	NULL		8																																																																																				AC123767.1	-	-		0.294	RP11-122L4.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000252176	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000376912.1	0	0	0	16	16	0	0.00	0.00	ACAC			39418524	+1	4	0	10	0	tier1	no_errors	ENST00000516367	ensembl	human	novel	74_37	rna	28.57	0.00	DEL	0.000:0.000:0.000:0.000	-	4	10
FAM86B1	85002	genome.wustl.edu	37	8	12042940	12042940	+	Silent	SNP	G	G	A	rs200121631		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:12042940G>A	ENST00000448228.2	-	6	784	c.735C>T	c.(733-735)taC>taT	p.Y245Y	FAM86B1_ENST00000534520.1_3'UTR|FAM86B1_ENST00000533852.2_Silent_p.Y279Y|FAM86B1_ENST00000321602.8_Silent_p.Y51Y	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	245										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TAAAGGCCACGTAGACCTCAG	0.657													ENSG00000186523																																					0													17.0	22.0	20.0					8																	12042940		1390	2532	3922	SO:0001819	synonymous_variant	0			-	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.735C>T	8.37:g.12042940G>A				Missense_Mutation	SNP	NULL	p.T85M	ENST00000448228.2	37	c.254	CCDS59512.1	8																																																																																			rs200121631	FAM86B1	-	NULL		0.657	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	0	0	0	205	205	3	0.00	0.00	G	NM_032916		12042940	-1	27	0	193	8	tier1	no_errors	ENST00000527300	ensembl	human	known	74_37	missense	12.27	0.00	SNP	0.761	A	27	193
GOLGA6L4	643707	genome.wustl.edu	37	15	82932257	82932258	+	5'UTR	DEL	AC	AC	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:82932257_82932258delAC	ENST00000560844.1	-	0	2532_2533																				NS(1)	1						taaattagaaacacaaataaat	0.188													ENSG00000215749																																					0																																										SO:0001623	5_prime_UTR_variant	0																															ENST00000560844.1:c.-1821GT>-	15.37:g.82932259_82932260delAC				R	DEL	-	NULL	ENST00000560844.1	37	NULL		15																																																																																				RP13-996F3.5	-	-		0.188	RP13-996F3.5-002	KNOWN	basic	processed_transcript	GOLGA6L4	Clone_based_vega_gene	protein_coding	OTTHUMT00000419267.1	0	0	0	9	9	0	0.00	0.00	AC			82932258	-1	3	0	5	0	tier1	no_errors	ENST00000560844	ensembl	human	known	74_37	rna	37.50	0.00	DEL	0.140:0.148	-	3	5
MRPL42	28977	genome.wustl.edu	37	12	93894748	93894748	+	Intron	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr12:93894748delA	ENST00000549982.1	+	6	544				MRPL42_ENST00000552938.1_3'UTR|MRPL42_ENST00000361630.2_Intron|MRPL42_ENST00000552217.1_Intron|MRPL42_ENST00000393128.4_Intron	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						cagtctctagaaaaaaaaaat	0.368													ENSG00000198015																																					0																																										SO:0001627	intron_variant	0				AB051626	CCDS9045.1	12q22	2014-02-12			ENSG00000198015	ENSG00000198015		"""Mitochondrial ribosomal proteins / large subunits"", ""Mitochondrial ribosomal proteins / small subunits"""	14493	protein-coding gene	gene with protein product	"""mitochondrial ribosomal protein S32"""	611847				11279123, 11042152	Standard	NM_014050		Approved	MRPS32, MRP-L31, RPML31, PTD007, HSPC204, MRPL31	uc001tcr.3	Q9Y6G3	OTTHUMG00000170157	ENST00000549982.1:c.384-204A>-	12.37:g.93894748delA			Q6FID1|Q96Q48|Q9P0S1	R	DEL	-	NULL	ENST00000549982.1	37	NULL	CCDS9045.1	12																																																																																				MRPL42	-	-		0.368	MRPL42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPL42	HGNC	protein_coding	OTTHUMT00000407715.1	0	0	0	16	16	0	0.00	0.00	A	NM_014050		93894748	+1	4	0	23	0	tier1	no_errors	ENST00000552938	ensembl	human	putative	74_37	rna	14.81	0.00	DEL	0.008	-	4	23
PLEC	5339	genome.wustl.edu	37	8	144997258	144997258	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:144997258G>A	ENST00000322810.4	-	31	7419	c.7250C>T	c.(7249-7251)gCc>gTc	p.A2417V	PLEC_ENST00000356346.3_Missense_Mutation_p.A2266V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2284V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2280V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2280V|PLEC_ENST00000354958.2_Missense_Mutation_p.A2258V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2248V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2303V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2307V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2417	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCGCGCGGCCTCCTCCGC	0.642													ENSG00000178209																																					0													17.0	18.0	18.0					8																	144997258		2195	4289	6484	SO:0001583	missense	0			-	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7250C>T	8.37:g.144997258G>A	ENSP00000323856:p.Ala2417Val		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A2417V	ENST00000322810.4	37	c.7250	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940609	0.34283	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79033	-1.17;-1.17;-1.2;-1.2;-1.17;-1.16;-1.23;-1.17;-1.17	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000008	T	0.78188	0.4244	M	0.64404	1.975	0.58432	D	0.999991	P;P;P;P;P;P;P;P	0.45474	0.859;0.859;0.859;0.779;0.859;0.859;0.859;0.859	P;P;P;B;P;P;P;P	0.48677	0.586;0.586;0.586;0.382;0.586;0.586;0.586;0.586	T	0.73975	-0.3813	10	0.14656	T	0.56	.	12.9978	0.58657	0.0806:0.0:0.9194:0.0	.	2307;2266;2258;2417;2248;2280;2284;2280	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2280;2284;2280;2248;2417;2258;2266;2307;2303	ENSP00000344848:A2280V;ENSP00000350277:A2284V;ENSP00000346602:A2280V;ENSP00000381756:A2248V;ENSP00000323856:A2417V;ENSP00000347044:A2258V;ENSP00000348702:A2266V;ENSP00000388180:A2307V;ENSP00000434583:A2303V	ENSP00000323856:A2417V	A	-	2	0	PLEC	145069246	1.000000	0.71417	0.945000	0.38365	0.637000	0.38172	6.438000	0.73426	2.415000	0.81967	0.549000	0.68633	GCC	-	PLEC	-	superfamily_Chorismate_mutase_type_II		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	0	0	0	17	17	2	0.00	0.00	G	NM_000445		144997258	-1	4	0	16	4	tier1	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	20.00	0.00	SNP	0.999	A	4	16
RPL5	6125	genome.wustl.edu	37	1	93301874	93301874	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:93301874C>T	ENST00000370321.3	+	5	542	c.452C>T	c.(451-453)gCc>gTc	p.A151V	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	151					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCAGGCCTTGCCAGAACTACC	0.478													ENSG00000122406																																					0													90.0	95.0	93.0					1																	93301874		2203	4298	6501	SO:0001583	missense	0			-	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.452C>T	1.37:g.93301874C>T	ENSP00000359345:p.Ala151Val		Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc	p.A151V	ENST00000370321.3	37	c.452	CCDS741.1	1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645788	0.67358	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.63417	-0.04	4.84	4.84	0.62591	.	0.052334	0.85682	D	0.000000	T	0.36717	0.0977	L	0.28192	0.835	0.80722	D	1	B	0.21688	0.059	B	0.21360	0.034	T	0.22034	-1.0228	10	0.29301	T	0.29	.	18.0014	0.89198	0.0:1.0:0.0:0.0	.	151	P46777	RL5_HUMAN	V	101;151;101	ENSP00000359345:A151V	ENSP00000359338:A101V	A	+	2	0	RPL5	93074462	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.637000	0.83313	2.219000	0.72066	0.460000	0.39030	GCC	-	RPL5	-	pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc		0.478	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL5	HGNC	protein_coding	OTTHUMT00000030058.2	0	0	0	38	38	0	0.00	0.00	C	NM_000969		93301874	+1	8	0	59	0	tier1	no_errors	ENST00000370321	ensembl	human	known	74_37	missense	11.94	0.00	SNP	1.000	T	8	59
TERF1	7013	genome.wustl.edu	37	8	73958296	73958296	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:73958296G>A	ENST00000276603.5	+	10	1267	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	RP11-531A24.7_ENST00000607665.1_RNA|TERF1_ENST00000276602.6_Missense_Mutation_p.R395Q	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	415	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTCAACAACCGGACAAGTGTC	0.393													ENSG00000147601																																					0													54.0	53.0	53.0					8																	73958296		2202	4297	6499	SO:0001583	missense	0			-	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1244G>A	8.37:g.73958296G>A	ENSP00000276603:p.Arg415Gln		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.R415Q	ENST00000276603.5	37	c.1244	CCDS6211.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.284315	0.95517	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	T;T	0.62498	0.02;0.02	5.52	5.52	0.82312	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.064420	0.64402	N	0.000004	D	0.87116	0.6097	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91505	0.5222	10	0.87932	D	0	.	18.2273	0.89921	0.0:0.0:1.0:0.0	.	395;415	P54274-2;P54274	.;TERF1_HUMAN	Q	415;395	ENSP00000276603:R415Q;ENSP00000276602:R395Q	ENSP00000276602:R395Q	R	+	2	0	TERF1	74120850	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.483000	0.81158	2.592000	0.87571	0.557000	0.71058	CGG	-	TERF1	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom		0.393	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1	0	0	0	138	138	0	0.00	0.00	G	NM_017489		73958296	+1	28	0	154	0	tier1	no_errors	ENST00000276603	ensembl	human	known	74_37	missense	15.38	0.00	SNP	1.000	A	28	154
TFAP2B	7021	genome.wustl.edu	37	6	50791450	50791450	+	Silent	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:50791450C>A	ENST00000393655.3	+	2	581	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	TFAP2B_ENST00000263046.4_Silent_p.R147R|TFAP2B_ENST00000489228.1_3'UTR	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	138					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CCTTGACCCCCGGAGGGACTA	0.721													ENSG00000008196																									Pancreas(116;1373 2332 5475 10752)												0													12.0	15.0	14.0					6																	50791450		2198	4295	6493	SO:0001819	synonymous_variant	0			-	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.412C>A	6.37:g.50791450C>A			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.R147	ENST00000393655.3	37	c.439	CCDS4934.2	6																																																																																			-	TFAP2B	-	NULL		0.721	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	0	0	0	16	16	1	0.00	0.00	C	NM_003221		50791450	+1	4	0	10	0	tier1	no_errors	ENST00000263046	ensembl	human	known	74_37	silent	28.57	0.00	SNP	0.952	A	4	10
TMEM108	66000	genome.wustl.edu	37	3	133099024	133099024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr3:133099024delC	ENST00000321871.6	+	4	679	c.469delC	c.(469-471)cccfs	p.P158fs	TMEM108_ENST00000393130.3_Frame_Shift_Del_p.P158fs|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000515826.1_Frame_Shift_Del_p.P158fs	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	158	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CACCACAGCGCCCCCCCGCAC	0.701													ENSG00000144868																																					0									,	31,4189		1,29,2080	11.0	15.0	14.0		,	-8.2	0.0	3		14	60,8126		4,52,4037	no	frameshift,frameshift	TMEM108	NM_023943.2,NM_001136469.1	,	5,81,6117	A1A1,A1R,RR		0.733,0.7346,0.7335	,	,	133099024	91,12315	2193	4283	6476	SO:0001589	frameshift_variant	0				AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.469delC	3.37:g.133099024delC	ENSP00000324651:p.Pro158fs		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Frame_Shift_Del	DEL	NULL	p.R159fs	ENST00000321871.6	37	c.469	CCDS33858.1	3																																																																																				TMEM108	-	NULL		0.701	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	0	0	0	32	32	1	0.00	0.00	C	NM_023943		133099024	+1	3	0	17	0	tier1	no_errors	ENST00000321871	ensembl	human	known	74_37	frame_shift_del	15.00	0.00	DEL	0.000	-	3	17
TMEM132A	54972	genome.wustl.edu	37	11	60702157	60702157	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:60702157G>A	ENST00000453848.2	+	9	1915	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R587H			Q24JP5	T132A_HUMAN	transmembrane protein 132A	586						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCACACGCCCGCGTGCTGGAC	0.716													ENSG00000006118																																					0													15.0	18.0	17.0					11																	60702157		2192	4280	6472	SO:0001583	missense	0			-	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1757G>A	11.37:g.60702157G>A	ENSP00000405823:p.Arg586His		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.R587H	ENST00000453848.2	37	c.1760	CCDS44618.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.891|5.891	0.348521|0.348521	0.11126|0.11126	.|.	.|.	ENSG00000006118|ENSG00000006118	ENST00000540112|ENST00000444690;ENST00000453848;ENST00000005286	.|T;T	.|0.41065	.|1.01;1.01	4.01|4.01	1.09|1.09	0.20402|0.20402	.|.	.|0.860722	.|0.10050	.|N	.|0.722341	T|T	0.30230|0.30230	0.0758|0.0758	L|L	0.38953|0.38953	1.18|1.18	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17465	.|0.017;0.022	.|B;B	.|0.10450	.|0.003;0.005	T|T	0.31530|0.31530	-0.9940|-0.9940	5|10	.|0.87932	.|D	.|0	.|.	4.6181|4.6181	0.12437|0.12437	0.2582:0.0:0.5894:0.1524|0.2582:0.0:0.5894:0.1524	.|.	.|586;587	.|Q24JP5;Q24JP5-2	.|T132A_HUMAN;.	T|H	15|337;586;587	.|ENSP00000405823:R586H;ENSP00000005286:R587H	.|ENSP00000005286:R587H	A|R	+|+	1|2	0|0	TMEM132A|TMEM132A	60458733|60458733	0.009000|0.009000	0.17119|0.17119	0.004000|0.004000	0.12327|0.12327	0.058000|0.058000	0.15608|0.15608	0.531000|0.531000	0.23052|0.23052	0.254000|0.254000	0.21573|0.21573	-0.680000|-0.680000	0.03767|0.03767	GCG|CGC	-	TMEM132A	-	NULL		0.716	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	0	0	0	19	19	1	0.00	0.00	G	NM_017870		60702157	+1	5	0	7	0	tier1	no_errors	ENST00000005286	ensembl	human	known	74_37	missense	41.67	0.00	SNP	0.003	A	5	7
WASH6P	653440	genome.wustl.edu	37	X	155251290	155251292	+	RNA	DEL	AGG	AGG	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chrX:155251290_155251292delAGG	ENST00000461007.1	+	0	298_300				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGTTAGAAGCAGGAGGTGTGCAG	0.645													ENSG00000182484		576	0.115016	0.1293	0.1542	5008	,	,		20575	0.006		0.1839	False		,,,				2504	0.1094																0																																												0				AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155251293_155251295delAGG			A6NGF1|Q8N305	R	DEL	-	NULL	ENST00000461007.1	37	NULL		X																																																																																				WASH6P	-	-		0.645	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	0	0	0	9	9	0	0.00	0.00	AGG	NG_008380		155251292	+1	7	0	5	0	tier1	no_errors	ENST00000461007	ensembl	human	known	74_37	rna	58.33	0.00	DEL	0.512:0.578:0.601	-	7	5
CAMK2G	818	genome.wustl.edu	37	10	75599351	75599351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr10:75599351G>A	ENST00000322635.3	-	13	1073	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	CAMK2G_ENST00000423381.1_Nonsense_Mutation_p.Q319*|CAMK2G_ENST00000322680.3_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000394762.2_Intron|CAMK2G_ENST00000372765.1_Nonsense_Mutation_p.Q319*|CAMK2G_ENST00000305762.7_Intron|CAMK2G_ENST00000444854.2_Intron|RP11-574K11.8_ENST00000446730.2_RNA	NM_172169.2	NP_751909.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	315					calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GCGGAGCTCTGCCTGCCAACT	0.741													ENSG00000148660																																					0													6.0	5.0	6.0					10																	75599351		1854	3591	5445	SO:0001587	stop_gained	0			-	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000322635.3:c.955C>T	10.37:g.75599351G>A	ENSP00000315599:p.Gln319*		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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.Q319*	ENST00000322635.3	37	c.955	CCDS7337.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.335888	0.97485	.	.	ENSG00000148660	ENST00000322635;ENST00000423381;ENST00000372765	.	.	.	5.71	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	14.8726	0.70471	0.0:0.0:0.8551:0.1449	.	.	.	.	X	319	.	ENSP00000315599:Q319X	Q	-	1	0	CAMK2G	75269357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.856000	0.86956	1.374000	0.46228	0.591000	0.81541	CAG	-	CAMK2G	-	superfamily_Kinase-like_dom		0.741	CAMK2G-001	KNOWN	basic|CCDS	protein_coding	CAMK2G	HGNC	protein_coding	OTTHUMT00000048714.1	0	0	0	19	19	2	0.00	0.00	G	NM_172169		75599351	-1	6	3	6	3	tier1	no_errors	ENST00000423381	ensembl	human	known	74_37	nonsense	50.00	50.00	SNP	1.000	A	6	6
NF1	4763	genome.wustl.edu	37	17	29552144	29552144	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:29552144delT	ENST00000358273.4	+	17	2260	c.1877delT	c.(1876-1878)cttfs	p.L626fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L626fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	626					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACTTTCTCCTTTTTTACGGG	0.393			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			ENSG00000196712																											yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											137.0	141.0	140.0					17																	29552144		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome			CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1877delT	17.37:g.29552144delT	ENSP00000351015:p.Leu626fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Y628fs	ENST00000358273.4	37	c.1877	CCDS42292.1	17																																																																																				NF1	-	superfamily_ARM-type_fold		0.393	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	0	0	0	33	33	3	0.00	0.00	T	NM_000267		29552144	+1	7	5	26	7	tier1	no_errors	ENST00000358273	ensembl	human	known	74_37	frame_shift_del	21.21	41.67	DEL	0.976	-	7	26
PRDM16	63976	genome.wustl.edu	37	1	3329296	3329296	+	Silent	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:3329296G>A	ENST00000270722.5	+	9	2584	c.2535G>A	c.(2533-2535)gcG>gcA	p.A845A	PRDM16_ENST00000378391.2_Silent_p.A845A|PRDM16_ENST00000442529.2_Silent_p.A845A|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.A846A|PRDM16_ENST00000514189.1_Silent_p.A846A|PRDM16_ENST00000378398.3_Silent_p.A846A|PRDM16_ENST00000441472.2_Silent_p.A845A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	845	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGTGCCCGGCGCGGATGCCCC	0.697			T	EVI1	"""MDS, AML"""								ENSG00000142611																												Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													7.0	9.0	8.0					1																	3329296		1798	3906	5704	SO:0001819	synonymous_variant	0			-	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2535G>A	1.37:g.3329296G>A			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A845	ENST00000270722.5	37	c.2535	CCDS41236.2	1																																																																																			-	PRDM16	-	NULL		0.697	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	0	0	0	11	11	2	0.00	0.00	G	NM_022114		3329296	+1	4	3	10	3	tier1	no_errors	ENST00000270722	ensembl	human	known	74_37	silent	28.57	50.00	SNP	0.039	A	4	10
RREB1	6239	genome.wustl.edu	37	6	7230854	7230854	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:7230854C>T	ENST00000349384.6	+	10	2836	c.2522C>T	c.(2521-2523)gCg>gTg	p.A841V	RREB1_ENST00000334984.6_Missense_Mutation_p.A841V|RREB1_ENST00000379933.3_Missense_Mutation_p.A841V|RREB1_ENST00000379938.2_Missense_Mutation_p.A841V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	841					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCGCTGAGGCGTCGGGGCGC	0.701													ENSG00000124782																																					0													7.0	8.0	8.0					6																	7230854		1826	3596	5422	SO:0001583	missense	0			-	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2522C>T	6.37:g.7230854C>T	ENSP00000305560:p.Ala841Val		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A841V	ENST00000349384.6	37	c.2522	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	6.372	0.436766	0.12104	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11169	2.93;2.89;2.93;2.8	4.98	4.98	0.66077	.	0.095008	0.45361	D	0.000364	T	0.05273	0.0140	M	0.63428	1.95	0.24495	N	0.994281	D;P;P	0.55605	0.972;0.915;0.545	B;B;B	0.41946	0.371;0.148;0.048	T	0.25710	-1.0124	10	0.48119	T	0.1	-39.977	6.3427	0.21332	0.0:0.7825:0.0:0.2175	.	841;841;841	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	841	ENSP00000369265:A841V;ENSP00000369270:A841V;ENSP00000305560:A841V;ENSP00000335574:A841V	ENSP00000335574:A841V	A	+	2	0	RREB1	7175853	0.247000	0.23920	0.816000	0.32577	0.046000	0.14306	1.382000	0.34374	2.576000	0.86940	0.655000	0.94253	GCG	-	RREB1	-	NULL		0.701	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	0	0	0	41	41	4	0.00	0.00	C			7230854	+1	14	3	19	2	tier1	no_errors	ENST00000379938	ensembl	human	known	74_37	missense	42.42	60.00	SNP	0.737	T	14	19
RNF25	64320	genome.wustl.edu	37	2	219528857	219528857	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr2:219528857C>A	ENST00000295704.2	-	10	1643	c.1203G>T	c.(1201-1203)aaG>aaT	p.K401N		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	401					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGGCCCCTTCTCTTGTG	0.647													ENSG00000163481																																					0													78.0	94.0	88.0					2																	219528857		2203	4300	6503	SO:0001583	missense	0			-		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.1203G>T	2.37:g.219528857C>A	ENSP00000295704:p.Lys401Asn		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING	p.K401N	ENST00000295704.2	37	c.1203	CCDS2420.1	2	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394556	0.42512	.	.	ENSG00000163481	ENST00000295704	T	0.56776	0.44	5.37	0.537	0.17144	.	0.366038	0.28853	N	0.013924	T	0.40372	0.1114	L	0.51422	1.61	0.31345	N	0.683153	B	0.14012	0.009	B	0.11329	0.006	T	0.35773	-0.9775	10	0.87932	D	0	-24.7064	4.6127	0.12411	0.143:0.5643:0.0:0.2926	.	401	Q96BH1	RNF25_HUMAN	N	401	ENSP00000295704:K401N	ENSP00000295704:K401N	K	-	3	2	RNF25	219237101	0.996000	0.38824	0.988000	0.46212	0.993000	0.82548	0.587000	0.23909	-0.082000	0.12640	0.655000	0.94253	AAG	-	RNF25	-	NULL		0.647	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF25	HGNC	protein_coding	OTTHUMT00000256721.1	0	0	0	46	46	52	0.00	0.00	C	NM_022453		219528857	-1	9	2	75	58	tier1	no_errors	ENST00000295704	ensembl	human	known	74_37	missense	10.59	3.33	SNP	0.998	A	9	75
TMEM79	84283	genome.wustl.edu	37	1	156256092	156256092	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:156256092C>A	ENST00000405535.2	+	3	970	c.799C>A	c.(799-801)Ctt>Att	p.L267I	TMEM79_ENST00000357501.2_Missense_Mutation_p.P28H|TMEM79_ENST00000295694.5_Missense_Mutation_p.L267I|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	267					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTTTTCTGCCCTTCGGCCCTT	0.592													ENSG00000163472																																					0													104.0	101.0	102.0					1																	156256092		2203	4300	6503	SO:0001583	missense	0			-	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.799C>A	1.37:g.156256092C>A	ENSP00000384748:p.Leu267Ile		B2RE22|D3DVB8	Missense_Mutation	SNP	NULL	p.L267I	ENST00000405535.2	37	c.799	CCDS1138.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.168795|3.168795	0.57584|0.57584	.|.	.|.	ENSG00000163472|ENSG00000163472	ENST00000295694;ENST00000405535|ENST00000357501;ENST00000456810	T;T|.	0.48522|.	0.81;0.81|.	5.82|5.82	4.91|4.91	0.64330|0.64330	.|.	0.127316|.	0.53938|.	D|.	0.000048|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.12182|0.12182	0.205|0.205	0.33804|0.33804	D|D	0.626974|0.626974	D|.	0.71674|.	0.998|.	D|.	0.65684|.	0.937|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|6	0.36615|0.87932	T|D	0.2|0	-16.6117|-16.6117	11.7495|11.7495	0.51841|0.51841	0.0:0.9184:0.0:0.0816|0.0:0.9184:0.0:0.0816	.|.	267|.	Q9BSE2|.	TMM79_HUMAN|.	I|H	267|28	ENSP00000295694:L267I;ENSP00000384748:L267I|.	ENSP00000295694:L267I|ENSP00000350100:P28H	L|P	+|+	1|2	0|0	TMEM79|TMEM79	154522716|154522716	0.732000|0.732000	0.28121|0.28121	0.210000|0.210000	0.23637|0.23637	0.984000|0.984000	0.73092|0.73092	1.613000|1.613000	0.36900|0.36900	1.462000|1.462000	0.47948|0.47948	0.561000|0.561000	0.74099|0.74099	CTT|CCT	-	TMEM79	-	NULL		0.592	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	HGNC	protein_coding	OTTHUMT00000052101.1	0	0	0	51	51	58	0.00	0.00	C	NM_032323		156256092	+1	9	3	35	40	tier1	no_errors	ENST00000295694	ensembl	human	known	74_37	missense	20.45	6.98	SNP	0.629	A	9	35
CYP11B2	1585	genome.wustl.edu	37	8	143996608	143996608	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr8:143996608G>A	ENST00000323110.2	-	3	451	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	150					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCCTTGGGCGACAGCACATC	0.632									Familial Hyperaldosteronism type I				ENSG00000179142																																					0													61.0	50.0	54.0					8																	143996608		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.449C>T	8.37:g.143996608G>A	ENSP00000325822:p.Ser150Leu		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.S150L	ENST00000323110.2	37	c.449	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	14.00	2.405715	0.42715	.	.	ENSG00000179142	ENST00000323110	T	0.71103	-0.54	3.44	2.52	0.30459	.	0.159267	0.29760	N	0.011263	T	0.70430	0.3223	M	0.80183	2.485	0.09310	N	1	P	0.44946	0.846	P	0.45195	0.473	T	0.63238	-0.6682	10	0.49607	T	0.09	.	5.9466	0.19221	0.0:0.199:0.5656:0.2353	.	150	P19099	C11B2_HUMAN	L	150	ENSP00000325822:S150L	ENSP00000325822:S150L	S	-	2	0	CYP11B2	143993610	0.181000	0.23161	0.002000	0.10522	0.016000	0.09150	1.288000	0.33296	0.725000	0.32318	0.561000	0.74099	TCG	-	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	0	0	0	43	43	8	0.00	0.00	G			143996608	-1	6	2	36	23	tier1	no_errors	ENST00000323110	ensembl	human	known	74_37	missense	14.29	8.00	SNP	0.139	A	6	36
TMCO5B	100652857	genome.wustl.edu	37	15	33529073	33529073	+	RNA	SNP	G	G	A	rs149395103		TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr15:33529073G>A	ENST00000529696.1	-	0	247							A8MYB1	TMC5B_HUMAN	transmembrane and coiled-coil domains 5B, pseudogene							integral component of membrane (GO:0016021)											agagaAGCTAGGAGAGGGAAG	0.433													ENSG00000215296																																					0																																												0			-			15q13.3	2013-09-26	2010-09-29		ENSG00000215296	ENSG00000215296			34243	pseudogene	pseudogene			"""transmembrane and coiled-coil domains 5B"""				Standard	NR_046005		Approved		uc031qri.1	A8MYB1	OTTHUMG00000167569		15.37:g.33529073G>A				R	SNP	-	NULL	ENST00000529696.1	37	NULL		15																																																																																			-	TMCO5B	-	-		0.433	TMCO5B-001	KNOWN	basic	processed_transcript	TMCO5B	HGNC	pseudogene	OTTHUMT00000395082.1	0	0	0	42	42	31	0.00	0.00	G			33529073	-1	10	2	37	37	tier1	no_errors	ENST00000529696	ensembl	human	known	74_37	rna	21.28	5.00	SNP	0.004	A	10	37
NCAM1	4684	genome.wustl.edu	37	11	113102894	113102894	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr11:113102894G>A	ENST00000533760.1	+	10	1458	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.A414T|NCAM1_ENST00000316851.7_Missense_Mutation_p.A405T	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	415	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TATTGCAGATGCCCCAAAGCT	0.527													ENSG00000149294																																					0													44.0	45.0	44.0					11																	113102894		1917	4143	6060	SO:0001583	missense	0			-		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.859G>A	11.37:g.113102894G>A	ENSP00000473281:p.Ala287Thr		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.A405T	ENST00000533760.1	37	c.1213		11	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431575	0.43122	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.73789	-0.78;-0.78	5.51	4.59	0.56863	Immunoglobulin-like fold (1);	0.066163	0.64402	U	0.000012	T	0.70996	0.3288	.	.	.	0.80722	D	1	P;P;P;P	0.43885	0.729;0.82;0.597;0.802	B;B;B;B	0.39465	0.203;0.3;0.158;0.3	T	0.75679	-0.3234	9	0.72032	D	0.01	-9.1324	15.9614	0.79933	0.0:0.0:0.8638:0.1361	.	415;405;415;405	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	T	287;414;405	ENSP00000384055:A414T;ENSP00000318472:A405T	ENSP00000318472:A405T	A	+	1	0	NCAM1	112608104	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	4.137000	0.58010	1.444000	0.47605	0.460000	0.39030	GCC	-	NCAM1	-	NULL		0.527	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	0	0	0	28	28	40	0.00	0.00	G	NM_000615		113102894	+1	7	2	21	37	tier1	no_errors	ENST00000316851	ensembl	human	known	74_37	missense	24.14	5.13	SNP	1.000	A	7	21
SEPT4	5414	genome.wustl.edu	37	17	56599400	56599400	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr17:56599400C>T	ENST00000317268.3	-	6	901	c.725G>A	c.(724-726)gGc>gAc	p.G242D	SEPT4_ENST00000393086.1_Missense_Mutation_p.G223D|SEPT4_ENST00000580809.1_Missense_Mutation_p.G124D|SEPT4_ENST00000583114.1_Missense_Mutation_p.G95D|SEPT4_ENST00000579371.1_Missense_Mutation_p.G143D|SEPT4_ENST00000426861.1_Missense_Mutation_p.G223D|SEPT4_ENST00000317256.6_Missense_Mutation_p.G223D|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.G257D|SEPT4_ENST00000580844.1_Missense_Mutation_p.G143D|SEPT4_ENST00000412945.3_Missense_Mutation_p.G234D	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	242	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGTTCAGGCCACTCTCGTC	0.537													ENSG00000108387																																					0													180.0	149.0	160.0					17																	56599400		2203	4300	6503	SO:0001583	missense	0			-	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.725G>A	17.37:g.56599400C>T	ENSP00000321674:p.Gly242Asp		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	p.G257D	ENST00000317268.3	37	c.770	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437824	0.43326	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.69378	0.3104	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.98;0.99;1.0;0.99;1.0	T	0.70525	-0.4848	10	0.72032	D	0.01	.	17.7759	0.88508	0.0:1.0:0.0:0.0	.	234;257;95;223;223;95;242	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	D	234;256;223;242;223;223	ENSP00000414779:G234D;ENSP00000321071:G223D;ENSP00000321674:G242D;ENSP00000376801:G223D;ENSP00000402348:G223D	ENSP00000321071:G223D	G	-	2	0	SEPT4	53954399	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.786000	0.95864	0.563000	0.77884	GGC	-	SEPT4	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase		0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1	0	0	0	36	36	37	0.00	0.00	C	NM_080417		56599400	-1	4	2	38	50	tier1	no_errors	ENST00000457347	ensembl	human	known	74_37	missense	9.52	3.85	SNP	1.000	T	4	38
MAP3K9	4293	genome.wustl.edu	37	14	71199670	71199670	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr14:71199670G>A	ENST00000554752.2	-	11	2415	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	MAP3K9_ENST00000553414.1_Missense_Mutation_p.R539W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R820W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R783W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R534W	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	806					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGGTGCTCCGACGAGGACGG	0.622													ENSG00000006432																									GBM(114;411 1587 13539 28235 50070)												0													52.0	51.0	51.0					14																	71199670		2203	4300	6503	SO:0001583	missense	0			-	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2416C>T	14.37:g.71199670G>A	ENSP00000451612:p.Arg806Trp		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R820W	ENST00000554752.2	37	c.2458		14	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768367	0.69878	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.84298	-1.65;-1.83;-1.58;-1.71	4.77	4.77	0.60923	.	0.055536	0.64402	D	0.000001	D	0.90055	0.6894	M	0.62723	1.935	0.50467	D	0.999874	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;P;D;D	0.72338	0.977;0.72;0.96;0.974	D	0.90423	0.4418	10	0.66056	D	0.02	.	12.3523	0.55155	0.0:0.0:0.7269:0.2731	.	534;806;820;539	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	W	806;820;539;783;534;522	ENSP00000451612:R806W;ENSP00000451038:R539W;ENSP00000370649:R783W;ENSP00000451921:R534W	ENSP00000005198:R820W	R	-	1	2	MAP3K9	70269423	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.997000	0.63921	2.478000	0.83669	0.561000	0.74099	CGG	-	MAP3K9	-	pirsf_MAPKKK9/10/11		0.622	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	0	0	0	49	49	78	0.00	0.00	G			71199670	-1	11	3	44	54	tier1	no_errors	ENST00000555993	ensembl	human	known	74_37	missense	20.00	5.26	SNP	0.996	A	11	44
RSPH4A	345895	genome.wustl.edu	37	6	116938393	116938393	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:116938393G>C	ENST00000229554.5	+	1	744	c.607G>C	c.(607-609)Gcc>Ccc	p.A203P	RSPH4A_ENST00000368580.4_Missense_Mutation_p.A203P|RSPH4A_ENST00000368581.4_Missense_Mutation_p.A203P	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	203					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTGAAGTGGCCCCCAGCAT	0.478									Kartagener syndrome				ENSG00000111834																																					0													71.0	84.0	80.0					6																	116938393		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.607G>C	6.37:g.116938393G>C	ENSP00000229554:p.Ala203Pro		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	pfam_Radial_spoke	p.A203P	ENST00000229554.5	37	c.607	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403050	0.25291	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	T;T;T	0.67698	-0.28;1.35;1.26	5.27	1.43	0.22495	.	0.547984	0.16830	N	0.197789	T	0.41119	0.1145	L	0.45137	1.4	0.09310	N	0.999996	B;P	0.52316	0.091;0.952	B;P	0.49301	0.018;0.606	T	0.24512	-1.0158	10	0.33940	T	0.23	-1.1924	4.0127	0.09629	0.175:0.0:0.4953:0.3297	.	203;203	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	P	203	ENSP00000357570:A203P;ENSP00000229554:A203P;ENSP00000357569:A203P	ENSP00000229554:A203P	A	+	1	0	RSPH4A	117045086	0.000000	0.05858	0.092000	0.20876	0.006000	0.05464	0.179000	0.16840	0.078000	0.16900	-0.518000	0.04402	GCC	-	RSPH4A	-	NULL		0.478	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1	0	0	0	44	44	43	0.00	0.00	G	NM_001010892		116938393	+1	4	3	36	45	tier1	no_errors	ENST00000229554	ensembl	human	known	74_37	missense	10.00	6.25	SNP	0.136	C	4	36
ZNF526	116115	genome.wustl.edu	37	19	42730292	42730292	+	Silent	SNP	C	C	T			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr19:42730292C>T	ENST00000301215.3	+	3	1962	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	579					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGACTTGTGGCCGCTGGTTCC	0.657													ENSG00000167625																																					0													41.0	43.0	42.0					19																	42730292		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1737C>T	19.37:g.42730292C>T			B3KV29|Q69YI2|Q96E24	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G579	ENST00000301215.3	37	c.1737	CCDS12598.1	19																																																																																			-	ZNF526	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	0	0	0	63	63	20	0.00	0.00	C	XM_057401		42730292	+1	5	2	54	24	tier1	no_errors	ENST00000301215	ensembl	human	known	74_37	silent	8.47	7.69	SNP	1.000	T	5	54
TRIM26	7726	genome.wustl.edu	37	6	30153712	30153712	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr6:30153712G>A	ENST00000454678.2	-	10	1997	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	TRIM26_ENST00000453195.1_Missense_Mutation_p.R521C|TRIM26_ENST00000437089.1_Missense_Mutation_p.R521C	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	521	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GGGACCAGGCGCCGGGTGAAG	0.602													ENSG00000234127																																					0													71.0	55.0	61.0					6																	30153712		1511	2708	4219	SO:0001583	missense	0			-	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.1561C>T	6.37:g.30153712G>A	ENSP00000410446:p.Arg521Cys		A6NG96|Q5SRL2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R521C	ENST00000454678.2	37	c.1561	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242423	0.39598	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.61627	0.09;0.09;0.09	5.68	2.74	0.32292	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.44285	D	0.000466	T	0.61185	0.2327	M	0.66297	2.02	0.09310	N	0.999998	D;D	0.89917	1.0;0.999	D;P	0.73708	0.981;0.828	T	0.57711	-0.7764	10	0.72032	D	0.01	.	12.7378	0.57234	0.0:0.0:0.5744:0.4256	.	521;521	Q5SRL2;Q12899	.;TRI26_HUMAN	C	521	ENSP00000391879:R521C;ENSP00000410446:R521C;ENSP00000395491:R521C	ENSP00000395491:R521C	R	-	1	0	TRIM26	30261691	0.195000	0.23338	0.044000	0.18714	0.994000	0.84299	2.537000	0.45702	0.726000	0.32339	0.544000	0.68410	CGC	-	TRIM26	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1	0	0	0	40	40	63	0.00	0.00	G	NM_003449		30153712	-1	6	2	25	70	tier1	no_errors	ENST00000437089	ensembl	human	known	74_37	missense	19.35	2.67	SNP	0.000	A	6	25
WWC1	23286	genome.wustl.edu	37	5	167849098	167849098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr5:167849098delA	ENST00000265293.4	+	10	1772	c.1270delA	c.(1270-1272)aaafs	p.K424fs	WWC1_ENST00000521089.1_Frame_Shift_Del_p.K424fs	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	424					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCCAGCTGAAAAGGTGAGT	0.577													ENSG00000113645																																					0													52.0	53.0	52.0					5																	167849098		2203	4300	6503	SO:0001589	frameshift_variant	0				AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1270delA	5.37:g.167849098delA	ENSP00000265293:p.Lys424fs		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Frame_Shift_Del	DEL	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.S425fs	ENST00000265293.4	37	c.1270	CCDS4366.1	5																																																																																				WWC1	-	NULL		0.577	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	0	0	0	22	22	19	0.00	0.00	A	NM_015238		167849098	+1	8	2	31	31	tier1	no_errors	ENST00000265293	ensembl	human	known	74_37	frame_shift_del	20.51	6.06	DEL	1.000	-	8	31
PIK3R3	8503	genome.wustl.edu	37	1	46509105	46509106	+	3'UTR	INS	-	-	A			TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr1:46509105_46509106insA	ENST00000262741.5	-	0	2314_2315				PIK3R3_ENST00000372006.1_3'UTR|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_3'UTR|PIK3R3_ENST00000340332.6_3'UTR|PIK3R3_ENST00000354242.4_3'UTR	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)						insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	AACAGACTTTCAAAAAAAACAT	0.49													ENSG00000117461																																					0																																										SO:0001624	3_prime_UTR_variant	0				BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.*240->T	1.37:g.46509113_46509113dupA			B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	R	INS	-	NULL	ENST00000262741.5	37	NULL	CCDS529.1	1																																																																																				PIK3R3	-	-		0.490	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	0	0	0	24	24	29	0.00	0.00	-	NM_003629		46509106	-1	8	3	29	54	tier1	no_errors	ENST00000488808	ensembl	human	known	74_37	rna	21.62	5.26	INS	0.168:0.001	A	8	29
SLC24A3	57419	genome.wustl.edu	37	20	19673862	19673863	+	Intron	INS	-	-	TT	rs11481303	byFrequency	TCGA-3B-A9HT-01A-11D-A38Z-09	TCGA-3B-A9HT-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8fc56a38-29d4-4399-bf98-d32e7186235a	08c672de-4763-4be1-856b-78960511fd90	g.chr20:19673862_19673863insTT	ENST00000328041.6	+	13	1521				RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000608476.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3						ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTCTTTGTTATTTTTTTTTTA	0.366											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000232675																																					0										738,811,20,2677		50,126,3,509,85,7,508,1,8,826						-1.3	0.0		dbSNP_120	20	230,1865,8,6149		0,46,0,184,192,3,1432,0,5,2264	no	intron	SLC24A3	NM_020689.3		50,172,3,693,277,10,1940,1,13,3090	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		25.4847,36.9524,29.3807				968,2676,28,8826				SO:0001627	intron_variant	0				AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1325-40->TT	20.37:g.19673871_19673872dupTT		735	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	R	INS	-	NULL	ENST00000328041.6	37	NULL	CCDS13140.1	20																																																																																				RP4-718D20.3	-	-		0.366	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232675	Clone_based_vega_gene	protein_coding	OTTHUMT00000078207.4	0	0	0	9	9	27	0.00	0.00	-	NM_020689		19673863	-1	3	3	24	31	tier1	no_errors	ENST00000435992	ensembl	human	known	74_37	rna	11.11	8.82	INS	0.000:0.000	TT	3	24
