#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
IGHD1-26	28506	broad.mit.edu;ucsc.edu	37	14	106346892	106346892	+	RNA	SNP	G	G	T	rs566830097	byFrequency	TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr14:106346892G>T	ENST00000390567.1	-	0	19				IGHD6-25_ENST00000452198.1_RNA|IGHD5-24_ENST00000390569.1_RNA					immunoglobulin heavy diversity 1-26																		TCTCACAGTGGTAGTAGCTCC	0.627																																																	0													37.0	38.0	38.0					14																	106346892		1922	3861	5783			8755			X97051		14q32.33	2012-02-08			ENSG00000211907	ENSG00000211907		"""Immunoglobulins / IGH locus"""	5485	other	immunoglobulin gene							Standard	NG_001019		Approved	IGHD126			OTTHUMG00000152429		14.37:g.106346892G>T				RNA	SNP	ENST00000390567.1	37																																																																																					0.627	IGHD1-26-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000326207.1		NG_001019	
Unknown	0	broad.mit.edu	37	14	106974612	106974612	+	IGR	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr14:106974612C>T								IGHV1-46 (6824 upstream) : IGHV3-48 (19201 downstream)																							CGGCCCATCACGGAGTCTGCA	0.512																																																	0																																										SO:0001628	intergenic_variant	8755																															14.37:g.106974612C>T				RNA	SNP		37																																																																																				0	0.512									
AMY2A	279	broad.mit.edu	37	1	104160101	104160101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:104160101C>A	ENST00000414303.2	+	1	103	c.39C>A	c.(37-39)tgC>tgA	p.C13*		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	13					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.C13*(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TTGGGTTCTGCTGGGCTCAGT	0.393																																																	1	Substitution - Nonsense(1)	kidney(1)											81.0	70.0	74.0					1																	104160101		2200	4257	6457	SO:0001587	stop_gained	279			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.39C>A	1.37:g.104160101C>A	ENSP00000397582:p.Cys13*		B9EJG1|Q9UBH3	Nonsense_Mutation	SNP	ENST00000414303.2	37	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.06|16.06	3.015833|3.015833	0.54468|0.54468	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	.|.	.|.	.|.	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	0.189423|.	0.64402|.	D|.	0.000017|.	.|T	.|0.52008	.|0.1708	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54728	.|-0.8250	.|3	0.11794|.	T|.	0.64|.	.|.	14.5293|14.5293	0.67912|0.67912	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	13|12	.|.	ENSP00000377509:C13X|.	C|L	+|+	3|1	2|2	AMY2A|AMY2A	103961624|103961624	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.206000|0.206000	0.24218|0.24218	1.304000|1.304000	0.33482|0.33482	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	TGC|CTG		0.393	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1		NM_000699	
ANKRD36B	57730	broad.mit.edu	37	2	98201807	98201807	+	RNA	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:98201807C>T	ENST00000443455.1	-	0	394							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTCTGGACACCAGGAGATGTA	0.473																																																	0													26.0	25.0	25.0					2																	98201807		692	1590	2282			57730			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98201807C>T			Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Silent	SNP	ENST00000443455.1	37																																																																																					0.473	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2		NM_025190	
APC2	10297	broad.mit.edu	37	19	1456344	1456344	+	Missense_Mutation	SNP	C	C	A	rs555858661		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:1456344C>A	ENST00000535453.1	+	7	2470	c.757C>A	c.(757-759)Ccc>Acc	p.P253T	APC2_ENST00000233607.2_Missense_Mutation_p.P253T|APC2_ENST00000238483.4_Intron|CTB-25B13.12_ENST00000588225.1_RNA			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.P253T(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		GGACGAGGACCCCGAGACAGA	0.682																																																	1	Substitution - Missense(1)	kidney(1)											31.0	32.0	32.0					19																	1456344		2192	4295	6487	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.757C>A	19.37:g.1456344C>A	ENSP00000442954:p.Pro253Thr		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	0.879	-0.729364	0.03135	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	D;D	0.91996	-2.95;-2.95	4.34	0.742	0.18341	.	1.304180	0.05110	N	0.488812	T	0.75398	0.3844	N	0.02011	-0.69	0.09310	N	0.999998	B;B	0.29037	0.231;0.003	B;B	0.25405	0.06;0.003	T	0.71314	-0.4630	10	0.02654	T	1	-10.7062	7.0804	0.25227	0.0:0.5668:0.3337:0.0996	.	252;253	O95996-3;O95996	.;APC2_HUMAN	T	253	ENSP00000233607:P253T;ENSP00000442954:P253T	ENSP00000233607:P253T	P	+	1	0	APC2	1407344	0.002000	0.14202	0.061000	0.19648	0.230000	0.25150	1.538000	0.36094	0.935000	0.37341	0.455000	0.32223	CCC		0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883	
ASXL1	171023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31025137	31025137	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:31025137G>C	ENST00000375687.4	+	13	5046	c.4622G>C	c.(4621-4623)aGa>aCa	p.R1541T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1536T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1541					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1541T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTGTGGTGAGATAATAAATT	0.383			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	kidney(1)											139.0	128.0	132.0					20																	31025137		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4622G>C	20.37:g.31025137G>C	ENSP00000364839:p.Arg1541Thr		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343042	0.82022	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.56275	0.49;0.47	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	N	0.08118	0	0.50039	D	0.999843	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.66500	-0.5908	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1536;1541	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	T	1541;1541;1541;1462;1536	ENSP00000364839:R1541T;ENSP00000305119:R1536T	ENSP00000305119:R1536T	R	+	2	0	ASXL1	30488798	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.021000	0.93673	2.941000	0.99782	0.655000	0.94253	AGA		0.383	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338	
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31318800	31318800	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr18:31318800G>A	ENST00000269197.5	+	11	1432	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E478K(1)|p.E185K(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAATTTTCTGAGGAGGCTGA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											45.0	46.0	45.0					18																	31318800		1852	4088	5940	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1432G>A	18.37:g.31318800G>A	ENSP00000269197:p.Glu478Lys		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874092	0.51695	.	.	ENSG00000141431	ENST00000269197	T	0.17854	2.25	5.2	4.32	0.51571	.	1.633670	0.03598	N	0.232966	T	0.23572	0.0570	L	0.49350	1.555	0.37103	D	0.89996	P	0.43750	0.816	B	0.43809	0.432	T	0.16394	-1.0404	10	0.27082	T	0.32	.	10.6473	0.45628	0.0735:0.1337:0.7928:0.0	.	478	Q9C0F0	ASXL3_HUMAN	K	478	ENSP00000269197:E478K	ENSP00000269197:E478K	E	+	1	0	ASXL3	29572798	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	3.185000	0.50934	2.580000	0.87095	0.467000	0.42956	GAG		0.388	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			
BHLHB9	80823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102005104	102005104	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chrX:102005104G>T	ENST00000372735.1	+	4	1766	c.1181G>T	c.(1180-1182)gGg>gTg	p.G394V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.G394V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.G394V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G394V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G394V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	394					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G394V(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCCTTCTGGGGATGAAAGA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											79.0	70.0	73.0					X																	102005104		2203	4300	6503	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1181G>T	X.37:g.102005104G>T	ENSP00000361820:p.Gly394Val		Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083831	0.08583	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.44	-0.486	0.12064	Armadillo-type fold (1);	0.767584	0.11109	N	0.598748	T	0.11067	0.0270	N	0.08118	0	0.25228	N	0.989859	B	0.06786	0.001	B	0.09377	0.004	T	0.28870	-1.0030	9	.	.	.	-17.3824	0.5186	0.00608	0.2059:0.1668:0.3114:0.316	.	394	Q6PI77	BHLH9_HUMAN	V	394	ENSP00000403226:G394V;ENSP00000354675:G394V;ENSP00000405893:G394V;ENSP00000391722:G394V;ENSP00000361820:G394V	.	G	+	2	0	BHLHB9	101891760	0.984000	0.35163	0.275000	0.24674	0.946000	0.59487	-0.016000	0.12613	-0.260000	0.09418	-0.508000	0.04489	GGG		0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1		NM_030639	
HECTD4	283450	hgsc.bcm.edu;ucsc.edu	37	12	112650435	112650435	+	Silent	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:112650435G>C	ENST00000430131.2	-	48	7364	c.6219C>G	c.(6217-6219)ggC>ggG	p.G2073G	HECTD4_ENST00000550722.1_Silent_p.G2349G|HECTD4_ENST00000377560.5_Silent_p.G2323G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2073					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTCTCCCAGCCAATTCCTG	0.507																																																	0													35.0	37.0	37.0					12																	112650435		1883	4116	5999	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6219C>G	12.37:g.112650435G>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	G	8.870	0.948953	0.18356	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.92	5.03	0.67393	.	.	.	.	.	T	0.54743	0.1877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	5.6279	0.17492	0.1987:0.0:0.6432:0.1581	.	.	.	.	G	240	.	.	A	-	2	0	C12orf51	111134818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.689000	0.25437	2.805000	0.96524	0.655000	0.94253	GCT		0.507	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	
C3	718	broad.mit.edu	37	19	6694615	6694615	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:6694615G>C	ENST00000245907.6	-	24	3073	c.2981C>G	c.(2980-2982)gCc>gGc	p.A994G		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	994					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A994G(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGCGTCGACGGCATCCTCTGT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											53.0	46.0	48.0					19																	6694615		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2981C>G	19.37:g.6694615G>C	ENSP00000245907:p.Ala994Gly		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640844	0.47153	.	.	ENSG00000125730	ENST00000245907	T	0.36699	1.24	5.77	5.77	0.91146	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.270324	0.41938	D	0.000789	T	0.50480	0.1618	M	0.86953	2.85	0.48632	D	0.99968	B	0.20261	0.043	B	0.23852	0.049	T	0.53627	-0.8412	10	0.87932	D	0	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	994	P01024	CO3_HUMAN	G	994	ENSP00000245907:A994G	ENSP00000245907:A994G	A	-	2	0	C3	6645615	1.000000	0.71417	0.497000	0.27552	0.176000	0.22953	5.916000	0.69981	2.733000	0.93635	0.655000	0.94253	GCC		0.627	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		NM_000064	
CFAP36	112942	broad.mit.edu;hgsc.bcm.edu	37	2	55772134	55772134	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:55772134T>C	ENST00000349456.4	+	10	1167	c.1019T>C	c.(1018-1020)aTt>aCt	p.I340T	CCDC104_ENST00000339012.3_Missense_Mutation_p.I365T|CCDC104_ENST00000407816.3_Missense_Mutation_p.I311T			Q96G28	CFA36_HUMAN		340								p.I340T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAGAAGTTATTAATAAGTAA	0.303																																																	1	Substitution - Missense(1)	kidney(1)											27.0	30.0	29.0					2																	55772134		2200	4294	6494	SO:0001583	missense	112942																														ENST00000349456.4:c.1019T>C	2.37:g.55772134T>C	ENSP00000295117:p.Ile340Thr		Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982031	0.74474	.	.	ENSG00000163001	ENST00000339012;ENST00000349456;ENST00000407816	T;T;T	0.29397	1.57;1.58;1.59	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.61695	-0.7010	10	0.87932	D	0	.	16.0038	0.80344	0.0:0.0:0.0:1.0	.	340;365	Q96G28;Q96G28-2	CC104_HUMAN;.	T	365;340;311	ENSP00000342699:I365T;ENSP00000295117:I340T;ENSP00000385376:I311T	ENSP00000342699:I365T	I	+	2	0	CCDC104	55625638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	2.170000	0.68504	0.445000	0.29226	ATT		0.303	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			
CD44	960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	35208449	35208449	+	Splice_Site	SNP	T	T	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:35208449T>A	ENST00000428726.2	+	4	559		c.e4+2		CD44_ENST00000449691.2_Splice_Site|CD44_ENST00000278386.6_Intron|CD44_ENST00000433892.2_Splice_Site|CD44_ENST00000415148.2_Splice_Site|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Splice_Site|CD44_ENST00000352818.4_Splice_Site|CD44_ENST00000437706.2_Splice_Site|CD44_ENST00000434472.2_Splice_Site|CD44_ENST00000433354.2_Splice_Site|CD44_ENST00000263398.6_Splice_Site	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)						blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.?(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	TTACCATAAGTATGTCTCTCT	0.403																																																	1	Unknown(1)	kidney(1)											126.0	118.0	121.0					11																	35208449		2202	4298	6500	SO:0001630	splice_region_variant	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.436+2T>A	11.37:g.35208449T>A			A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Splice_Site	SNP	ENST00000428726.2	37	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076976	0.36662	.	.	ENSG00000026508	ENST00000263398;ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000360158;ENST00000428726;ENST00000433892;ENST00000434472;ENST00000352818;ENST00000442151;ENST00000525211;ENST00000526000;ENST00000279452;ENST00000527889;ENST00000528455;ENST00000531873;ENST00000531110;ENST00000525685	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8715	0.46885	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD44	35165025	1.000000	0.71417	0.993000	0.49108	0.542000	0.35054	3.374000	0.52402	2.146000	0.66826	0.459000	0.35465	.		0.403	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1		NM_000610	Intron
CENPE	1062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104054940	104054940	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr4:104054940T>C	ENST00000265148.3	-	41	6721	c.6632A>G	c.(6631-6633)aAa>aGa	p.K2211R	CENPE_ENST00000380026.3_Missense_Mutation_p.K2090R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2211	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.K2174R(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GTGCTGTATTTTAATTAGCAA	0.294																																																	1	Substitution - Missense(1)	kidney(1)											127.0	118.0	121.0					4																	104054940		2201	4298	6499	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6632A>G	4.37:g.104054940T>C	ENSP00000265148:p.Lys2211Arg		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494814	0.64186	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70282	-0.46;-0.47	5.0	5.0	0.66597	.	.	.	.	.	T	0.63450	0.2512	L	0.47716	1.5	0.20196	N	0.999925	P;P	0.42908	0.573;0.793	B;B	0.38842	0.168;0.283	T	0.58679	-0.7594	9	0.48119	T	0.1	.	11.1228	0.48300	0.0:0.0:0.0:1.0	.	2090;2211	Q02224-3;Q02224	.;CENPE_HUMAN	R	2211;2175;2090	ENSP00000265148:K2211R;ENSP00000369365:K2090R	ENSP00000265148:K2211R	K	-	2	0	CENPE	104274389	0.060000	0.20803	0.178000	0.23040	0.935000	0.57460	2.313000	0.43735	1.881000	0.54492	0.519000	0.50382	AAA		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
CEP120	153241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	122685709	122685709	+	Silent	SNP	A	A	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr5:122685709A>T	ENST00000306467.5	-	19	2959	c.2655T>A	c.(2653-2655)ctT>ctA	p.L885L	CEP120_ENST00000306481.6_Silent_p.L859L|CEP120_ENST00000328236.5_Silent_p.L885L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	885					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.L885L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CCTCAGCGGCAAGGTAACGTA	0.363																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	132.0	135.0					5																	122685709		2203	4299	6502	SO:0001819	synonymous_variant	153241			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2655T>A	5.37:g.122685709A>T			Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	CCDS4134.2																																																																																				0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2		NM_153223	
CWC22	57703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	180818964	180818964	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:180818964G>A	ENST00000410053.3	-	16	1956	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	CWC22_ENST00000295749.6_Missense_Mutation_p.H553Y	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	553	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.H553Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TATAAAAGGTGAGCAAACATC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											136.0	128.0	131.0					2																	180818964		1899	4118	6017	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.1657C>T	2.37:g.180818964G>A	ENSP00000387006:p.His553Tyr		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012774	0.93346	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.31769	1.48;1.48;1.48	5.82	5.82	0.92795	Initiation factor eIF-4 gamma, MA3 (3);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.84433	2.695	0.80722	D	1	P	0.48503	0.911	P	0.52386	0.697	T	0.60801	-0.7191	10	0.87932	D	0	-16.4401	19.0757	0.93161	0.0:0.0:1.0:0.0	.	553	Q9HCG8	CWC22_HUMAN	Y	553	ENSP00000387006:H553Y;ENSP00000295749:H553Y;ENSP00000384159:H553Y	ENSP00000295749:H553Y	H	-	1	0	CWC22	180527209	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.808000	0.99193	2.761000	0.94854	0.655000	0.94253	CAC		0.358	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1		NM_020943	
DST	667	broad.mit.edu	37	6	56394513	56394513	+	Silent	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:56394513G>T	ENST00000244364.6	-	47	9666	c.9459C>A	c.(9457-9459)ggC>ggA	p.G3153G	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.G3479G|DST_ENST00000370754.5_Silent_p.G5745G|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Silent_p.G5241G|DST_ENST00000370769.4_Silent_p.G5567G|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	5565					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.G3153G(1)|p.G5567G(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTAAGGACTGGCCAATGCTAA	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											72.0	69.0	70.0					6																	56394513		1858	4099	5957	SO:0001819	synonymous_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.9459C>A	6.37:g.56394513G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000244364.6	37	CCDS47443.1																																																																																				0.353	DST-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041022.4		NM_001723	
DYNC1LI2	1783	hgsc.bcm.edu	37	16	66761652	66761653	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr16:66761652_66761653insG	ENST00000258198.2	-	11	1405_1406	c.1199_1200insC	c.(1198-1200)ccafs	p.P400fs	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000443351.2_Frame_Shift_Ins_p.P323fs|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	400					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCACACTGGCTGGCCCTCCCCG	0.51																																																	0																																										SO:0001589	frameshift_variant	1783			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1200dupC	16.37:g.66761654_66761654dupG	ENSP00000258198:p.Pro400fs		A8K6V1|B4DZP4|Q8TAT3	Frame_Shift_Ins	INS	ENST00000258198.2	37	CCDS10818.1																																																																																				0.510	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1		NM_006141	
EIF2B3	8891	hgsc.bcm.edu;ucsc.edu	37	1	45347334	45347334	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:45347334delC	ENST00000360403.2	-	7	860	c.734delG	c.(733-735)ggafs	p.G245fs	EIF2B3_ENST00000372183.3_Frame_Shift_Del_p.G245fs	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	245					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTCTTCTTGTCCCTGTTGTGA	0.423																																					Colon(26;357 658 2581 11857 12657)												0													199.0	188.0	192.0					1																	45347334		2203	4300	6503	SO:0001589	frameshift_variant	8891			AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.734delG	1.37:g.45347334delC	ENSP00000353575:p.Gly245fs		B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Frame_Shift_Del	DEL	ENST00000360403.2	37	CCDS517.1																																																																																				0.423	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1		NM_020365	
ELN	2006	broad.mit.edu	37	7	73462860	73462860	+	Missense_Mutation	SNP	C	C	T	rs531144748		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr7:73462860C>T	ENST00000252034.7	+	15	1172	c.773C>T	c.(772-774)gCg>gTg	p.A258V	ELN_ENST00000320492.7_Missense_Mutation_p.A222V|ELN_ENST00000380553.4_Missense_Mutation_p.A141V|ELN_ENST00000445912.1_Missense_Mutation_p.A258V|ELN_ENST00000414324.1_Missense_Mutation_p.A253V|ELN_ENST00000458204.1_Missense_Mutation_p.A248V|ELN_ENST00000320399.6_Missense_Mutation_p.A258V|ELN_ENST00000357036.5_Missense_Mutation_p.A263V|ELN_ENST00000380584.4_Missense_Mutation_p.A244V|ELN_ENST00000380575.4_Missense_Mutation_p.A248V|ELN_ENST00000358929.4_Missense_Mutation_p.A258V|ELN_ENST00000380562.4_Missense_Mutation_p.A258V|ELN_ENST00000380576.5_Missense_Mutation_p.A258V|ELN_ENST00000429192.1_Missense_Mutation_p.A263V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	258	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A258V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				gcagcagcagcggcagctaaa	0.612			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		18138	0.0		0.0	False		,,,				2504	0.001							Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - Missense(1)	kidney(1)											76.0	80.0	79.0					7																	73462860		2203	4300	6503	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.773C>T	7.37:g.73462860C>T	ENSP00000252034:p.Ala258Val		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	c	5.823	0.336104	0.11013	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	1.17;1.18;1.22;1.2;0.65;0.65;1.18;1.18;1.18;1.21;1.18;1.17;1.21;1.25;1.22;1.17	.	.	.	.	.	.	.	.	T	0.45357	0.1338	L	0.43923	1.385	0.26495	N	0.974863	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.56521	0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976;0.976	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.52309	0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695;0.695	T	0.32981	-0.9886	7	0.41790	T	0.15	.	.	.	.	.	258;227;222;253;248;258;248;263;263;258;141;214;244;258	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	258;258;258;222;236;119;253;258;248;244;248;263;263;227;141;258;258	ENSP00000389857:A258V;ENSP00000252034:A258V;ENSP00000351807:A258V;ENSP00000315607:A222V;ENSP00000406949:A236V;ENSP00000389206:A119V;ENSP00000392575:A253V;ENSP00000369936:A258V;ENSP00000369949:A248V;ENSP00000369958:A244V;ENSP00000403162:A248V;ENSP00000349540:A263V;ENSP00000391129:A263V;ENSP00000369926:A141V;ENSP00000369950:A258V;ENSP00000313565:A258V	ENSP00000252034:A258V	A	+	2	0	ELN	73100796	0.122000	0.22280	0.892000	0.35008	0.406000	0.30931	0.947000	0.29082	0.174000	0.19809	0.177000	0.17058	GCG		0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1		NM_000501	
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	5'UTR	SNP	G	G	A	rs372155704		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:25848606G>A	ENST00000478164.1	-	0	180				FAM182B_ENST00000376404.2_5'UTR			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						atcaccgtccgggcaggcctg	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	728882					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000478164.1:c.-812C>T	20.37:g.25848606G>A			Q4G0Q1	RNA	SNP	ENST00000478164.1	37																																																																																					0.672	FAM182B-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000316665.1		NR_026714	
FAM74A7	100996582	broad.mit.edu	37	9	40715923	40715924	+	lincRNA	DEL	AA	AA	-	rs374953827|rs62565543	byFrequency	TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr9:40715923_40715924delAA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GAAGACGTGGAAAGAGCTCAGA	0.569																																																	0																																												728495																															9.37:g.40715923_40715924delAA				RNA	DEL	ENST00000432614.1	37																																																																																					0.569	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54791201	54791201	+	Silent	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:54791201T>C	ENST00000306858.7	+	3	593	c.477T>C	c.(475-477)gaT>gaC	p.D159D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	159								p.D159D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATTTACAGATGTGGACATTT	0.303																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	100.0	98.0					6																	54791201		2203	4299	6502	SO:0001819	synonymous_variant	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.477T>C	6.37:g.54791201T>C			Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	CCDS34479.1																																																																																				0.303	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1		XM_294139	
FBXO43	286151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101153613	101153613	+	Missense_Mutation	SNP	G	G	C	rs202229125		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr8:101153613G>C	ENST00000428847.2	-	2	1185	c.869C>G	c.(868-870)aCa>aGa	p.T290R		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	290					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.T256R(2)|p.T290R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCCACAAGTTGTTCCACTAAC	0.383																																																	3	Substitution - Missense(3)	kidney(3)						G	ARG/THR	0,3836		0,0,1918	38.0	37.0	37.0		869	1.4	0.0	8		37	1,8245		0,1,4122	yes	missense	FBXO43	NM_001029860.3	71	0,1,6040	CC,CG,GG		0.0121,0.0,0.0083	possibly-damaging	290/709	101153613	1,12081	1918	4123	6041	SO:0001583	missense	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.869C>G	8.37:g.101153613G>C	ENSP00000403293:p.Thr290Arg			Missense_Mutation	SNP	ENST00000428847.2	37	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253058	0.22965	0.0	1.21E-4	ENSG00000156509	ENST00000428847	T	0.32753	1.44	5.33	1.39	0.22231	.	1.078290	0.06980	N	0.819746	T	0.36026	0.0952	M	0.66939	2.045	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.42085	-0.9472	10	0.59425	D	0.04	0.8549	12.7286	0.57185	0.0684:0.5168:0.4149:0.0	.	256;290	C9J908;Q4G163	.;FBX43_HUMAN	R	290	ENSP00000403293:T290R	ENSP00000403293:T290R	T	-	2	0	FBXO43	101222789	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-0.213000	0.09305	0.046000	0.15833	0.655000	0.94253	ACA		0.383	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918	
FLNB	2317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	58128451	58128451	+	Silent	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:58128451G>A	ENST00000295956.4	+	31	5421	c.5256G>A	c.(5254-5256)ccG>ccA	p.P1752P	FLNB_ENST00000490882.1_Silent_p.P1783P|FLNB_ENST00000493452.1_Silent_p.P1559P|FLNB_ENST00000429972.2_Silent_p.P1741P|FLNB_ENST00000419752.2_Silent_p.P1572P|FLNB_ENST00000358537.3_Silent_p.P1728P|FLNB_ENST00000357272.4_Silent_p.P1752P|FLNB_ENST00000348383.5_Silent_p.P1752P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1752					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P1752P(1)|p.P1783P(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGTCATTCCGTTTGCTGTCA	0.512																																																	2	Substitution - coding silent(2)	kidney(2)											159.0	133.0	142.0					3																	58128451		2203	4300	6503	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5256G>A	3.37:g.58128451G>A			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1		NM_001457	
FOXD4L4	349334	hgsc.bcm.edu	37	9	70427650	70427652	+	Stop_Codon_Del	DEL	CAG	CAG	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr9:70427650_70427652delCAG	ENST00000377413.1	-	0	2079_2081					NM_199244.2	NP_954714.2	Q8WXT5	FX4L4_HUMAN	forkhead box D4-like 4						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C416delC(1)							GBM - Glioblastoma multiforme(29;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCTGATACCTCAGCAGCGCCGAC	0.65																																																	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001567	stop_retained_variant	349334				CCDS75845.1	9q13	2007-03-19			ENSG00000184659	ENSG00000184659			23762	protein-coding gene	gene with protein product		611085					Standard	NM_199244		Approved	bA460E7.2, OTTHUMG00000013337		Q8WXT5	OTTHUMG00000013337	Exception_encountered	9.37:g.70427653_70427655delCAG	Exception_encountered		Q5RIB4	In_Frame_Del	DEL	ENST00000377413.1	37	CCDS6621.1																																																																																				0.650	FOXD4L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037143.2			
FREM2	341640	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	39420850	39420850	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr13:39420850T>C	ENST00000280481.7	+	7	6376	c.6160T>C	c.(6160-6162)Tct>Cct	p.S2054P	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2054	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2054P(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGATCCTCCCTCTGCAGATGG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											167.0	149.0	155.0					13																	39420850		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6160T>C	13.37:g.39420850T>C	ENSP00000280481:p.Ser2054Pro		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768517	0.49680	.	.	ENSG00000150893	ENST00000280481	T	0.33216	1.42	5.33	5.33	0.75918	Na-Ca exchanger/integrin-beta4 (2);	0.056676	0.64402	D	0.000001	T	0.60856	0.2301	M	0.91090	3.175	0.58432	D	0.999999	D;P	0.69078	0.997;0.635	D;P	0.69479	0.964;0.461	T	0.69587	-0.5105	10	0.87932	D	0	.	11.4115	0.49929	0.143:0.0:0.0:0.857	.	2054;2054	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	P	2054	ENSP00000280481:S2054P	ENSP00000280481:S2054P	S	+	1	0	FREM2	38318850	1.000000	0.71417	0.301000	0.25044	0.013000	0.08279	5.188000	0.65093	2.157000	0.67596	0.533000	0.62120	TCT		0.463	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361	
GRID2	2895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	94547477	94547477	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr4:94547477A>T	ENST00000282020.4	+	14	2509	c.2251A>T	c.(2251-2253)Atc>Ttc	p.I751F	GRID2_ENST00000510992.1_Missense_Mutation_p.I656F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	751					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.I751F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATATGTGGCTATCAATGACCC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											187.0	166.0	173.0					4																	94547477		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2251A>T	4.37:g.94547477A>T	ENSP00000282020:p.Ile751Phe		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412068	0.42817	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.26957	1.7;1.7	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.044578	0.85682	D	0.000000	T	0.24890	0.0604	L	0.46157	1.445	0.53005	D	0.999961	B;B	0.21688	0.059;0.059	B;B	0.22152	0.038;0.023	T	0.05146	-1.0903	10	0.72032	D	0.01	.	11.8341	0.52312	0.8537:0.1463:0.0:0.0	.	656;751	E9PH24;O43424	.;GRID2_HUMAN	F	751;656	ENSP00000282020:I751F;ENSP00000421257:I656F	ENSP00000282020:I751F	I	+	1	0	GRID2	94766500	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.602000	0.61098	2.055000	0.61198	0.397000	0.26171	ATC		0.368	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			
GUCY2C	2984	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14832651	14832651	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:14832651T>A	ENST00000261170.3	-	6	906	c.770A>T	c.(769-771)aAg>aTg	p.K257M	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	257					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.K257M(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACCCTTCAGCTTGTAGAGGAA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											149.0	133.0	138.0					12																	14832651		2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.770A>T	12.37:g.14832651T>A	ENSP00000261170:p.Lys257Met		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753878	0.31046	.	.	ENSG00000070019	ENST00000261170	T	0.73789	-0.78	5.57	-9.94	0.00449	Extracellular ligand-binding receptor (1);	2.095880	0.01418	N	0.014244	T	0.51432	0.1674	N	0.08118	0	0.09310	N	1	B	0.33000	0.393	B	0.37780	0.258	T	0.56080	-0.8038	10	0.56958	D	0.05	.	4.2012	0.10467	0.0727:0.2758:0.3125:0.3391	.	257	P25092	GUC2C_HUMAN	M	257	ENSP00000261170:K257M	ENSP00000261170:K257M	K	-	2	0	GUCY2C	14723918	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.754000	0.00790	-2.146000	0.00800	-1.234000	0.01563	AAG		0.423	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			
HNRNPH1	3187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179047903	179047903	+	Silent	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr5:179047903C>T	ENST00000356731.5	-	3	1922	c.387G>A	c.(385-387)caG>caA	p.Q129Q	HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Silent_p.Q129Q|HNRNPH1_ENST00000442819.2_Silent_p.Q129Q|HNRNPH1_ENST00000329433.6_Silent_p.Q129Q|HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Q129Q			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	129	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.Q129Q(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CTGAGAAGAACTGAACAATTT	0.423																																																	3	Substitution - coding silent(3)	kidney(3)											120.0	108.0	112.0					5																	179047903		2203	4300	6503	SO:0001819	synonymous_variant	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.387G>A	5.37:g.179047903C>T			B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	c	19.37	3.813818	0.70912	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75042	0.3796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73701	-0.3900	4	.	.	.	-3.7476	19.0418	0.93002	0.0:1.0:0.0:0.0	.	.	.	.	I	20	.	.	V	-	1	0	HNRNPH1	178980509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.510000	0.84645	0.467000	0.42956	GTT		0.423	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3		NM_005520	
IGSF3	3321	hgsc.bcm.edu	37	1	117127342	117127343	+	Frame_Shift_Ins	INS	-	-	C	rs141884605		TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:117127342_117127343insC	ENST00000369486.3	-	9	3537_3538	c.2772_2773insG	c.(2770-2775)ctgcccfs	p.P925fs	IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.P945fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.P945fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	925	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTGGGGCTGGGCAGCCACTCCT	0.619																																																	0																																										SO:0001589	frameshift_variant	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2773dupG	1.37:g.117127343_117127343dupC	ENSP00000358498:p.Pro925fs		A6NJZ6|A6NMC7	Frame_Shift_Ins	INS	ENST00000369486.3	37	CCDS30813.1																																																																																				0.619	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1		NM_001542	
IGSF9B	22997	hgsc.bcm.edu	37	11	133802056	133802056	+	Silent	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:133802056G>T	ENST00000321016.8	-	8	1250	c.1020C>A	c.(1018-1020)atC>atA	p.I340I	IGSF9B_ENST00000533871.2_Silent_p.I340I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	340	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTAGCCATGGATCCCCACGG	0.607																																																	0													58.0	74.0	69.0					11																	133802056		2176	4260	6436	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1020C>A	11.37:g.133802056G>T			G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502	
KDM5C	8242	broad.mit.edu;ucsc.edu	37	X	53230876	53230877	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chrX:53230876_53230877insT	ENST00000375401.3	-	14	2448_2449	c.1916_1917insA	c.(1915-1917)tacfs	p.Y639fs	KDM5C_ENST00000452825.3_Frame_Shift_Ins_p.Y572fs|KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.Y638fs|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.Y639fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.Y598fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	639					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGAAGACGCAGTATCTCCGGAG	0.579			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0																																										SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1917dupA	X.37:g.53230877_53230877dupT	ENSP00000364550:p.Tyr639fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Ins	INS	ENST00000375401.3	37	CCDS14351.1																																																																																				0.579	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KRT16	3868	broad.mit.edu	37	17	39768515	39768515	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr17:39768515G>C	ENST00000301653.4	-	1	490	c.426C>G	c.(424-426)aaC>aaG	p.N142K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	142	Coil 1A.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.N142K(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCAGGTCGGCGTTGGCCTCCT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											75.0	86.0	83.0					17																	39768515		2202	4278	6480	SO:0001583	missense	3868			S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.426C>G	17.37:g.39768515G>C	ENSP00000301653:p.Asn142Lys		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829308	0.32329	.	.	ENSG00000186832	ENST00000301653	D	0.97959	-4.63	4.8	-0.65	0.11457	Filament (1);	0.000000	0.56097	D	0.000029	D	0.98782	0.9590	H	0.95224	3.64	0.27235	N	0.959285	D	0.89917	1.0	D	0.85130	0.997	D	0.96014	0.9004	10	0.87932	D	0	.	10.3742	0.44073	0.4869:0.0:0.5131:0.0	.	142	P08779	K1C16_HUMAN	K	142	ENSP00000301653:N142K	ENSP00000301653:N142K	N	-	3	2	KRT16	37022041	0.001000	0.12720	0.038000	0.18304	0.285000	0.27093	-0.084000	0.11268	-0.129000	0.11620	-0.258000	0.10820	AAC		0.582	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1		NM_005557	
LAMA4	3910	hgsc.bcm.edu;ucsc.edu	37	6	112522880	112522880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:112522880delT	ENST00000230538.7	-	5	829	c.432delA	c.(430-432)gaafs	p.E144fs	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.E144fs|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.E144fs|LAMA4_ENST00000522006.1_Frame_Shift_Del_p.E144fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	144	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATAGCAGGATTCTGCAAAAC	0.358																																																	0													192.0	205.0	201.0					6																	112522880		2203	4300	6503	SO:0001589	frameshift_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.432delA	6.37:g.112522880delT	ENSP00000230538:p.Glu144fs		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Frame_Shift_Del	DEL	ENST00000230538.7	37	CCDS43491.1																																																																																				0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206	
RNU6-55P	100873763	broad.mit.edu	37	13	19445972	19445972	+	RNA	SNP	C	C	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr13:19445972C>A	ENST00000411092.1	-	0	0					NR_046929.1				RNA, U6 small nuclear 55, pseudogene																		CTAGAATACTCAGGTTTCATT	0.328																																																	0																																												0					13q11	2013-05-01	2013-05-01	2013-05-01	ENSG00000223024	ENSG00000223024			42545	pseudogene	RNA, pseudogene			"""RNA, U6 small nuclear 55"""	RNU6-55			Standard	NR_046929		Approved						13.37:g.19445972C>A				RNA	SNP	ENST00000411092.1	37																																																																																					0.328	RNU6-55P-201	KNOWN	basic	snRNA	snRNA			NR_046929	
MEGF6	1953	hgsc.bcm.edu;ucsc.edu	37	1	3424401	3424402	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:3424401_3424402insG	ENST00000356575.4	-	14	1972_1973	c.1746_1747insC	c.(1744-1749)gcctgcfs	p.C583fs	MEGF6_ENST00000294599.4_Frame_Shift_Ins_p.C478fs	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	583	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGGCAGCGGCAGGCCCCCGTGA	0.584																																					Ovarian(73;978 3658)												0																																										SO:0001589	frameshift_variant	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1747dupC	1.37:g.3424403_3424403dupG	ENSP00000348982:p.Cys583fs		Q4AC86|Q5VV39	Frame_Shift_Ins	INS	ENST00000356575.4	37	CCDS41237.1																																																																																				0.584	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409	
MEGF8	1954	hgsc.bcm.edu	37	19	42830478	42830478	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:42830478G>C	ENST00000251268.6	+	1	83	c.83G>C	c.(82-84)gGg>gCg	p.G28A	MEGF8_ENST00000334370.4_Missense_Mutation_p.G28A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	28					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCCGGGCGGGGGACTGCAAG	0.687											OREG0025502	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	22.0	20.0					19																	42830478		2023	4165	6188	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.83G>C	19.37:g.42830478G>C	ENSP00000251268:p.Gly28Ala	911	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	G	32	5.167803	0.94768	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20200	2.09;2.09	5.46	5.46	0.80206	.	.	.	.	.	T	0.31420	0.0796	L	0.33485	1.01	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.01998	-1.1232	9	0.02654	T	1	-10.8816	16.7877	0.85578	0.0:0.0:1.0:0.0	.	28	Q7Z7M0-2	.	A	28	ENSP00000334219:G28A;ENSP00000251268:G28A	ENSP00000251268:G28A	G	+	2	0	MEGF8	47522318	1.000000	0.71417	0.989000	0.46669	0.907000	0.53573	8.535000	0.90623	2.562000	0.86427	0.551000	0.68910	GGG		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410	
MFI2	4241	broad.mit.edu;hgsc.bcm.edu	37	3	196753618	196753618	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:196753618C>G	ENST00000296350.5	-	3	330	c.217G>C	c.(217-219)Gac>Cac	p.D73H	MFI2_ENST00000296351.4_Missense_Mutation_p.D73H	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	73	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.D73H(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTGATGGCGTCAGCCTCCTGG	0.622																																																	2	Substitution - Missense(2)	kidney(2)											64.0	57.0	60.0					3																	196753618		2203	4300	6503	SO:0001583	missense	4241				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.217G>C	3.37:g.196753618C>G	ENSP00000296350:p.Asp73His		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029451	0.75504	.	.	ENSG00000163975	ENST00000296350;ENST00000296351;ENST00000439320	T;T;T	0.55052	1.35;0.54;0.54	5.11	4.24	0.50183	.	0.046589	0.85682	D	0.000000	T	0.72228	0.3434	M	0.83852	2.665	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.984	T	0.72988	-0.4124	10	0.35671	T	0.21	-38.9183	12.8833	0.58030	0.0:0.9212:0.0:0.0788	.	73;73;73	P08582-2;Q53XS6;P08582	.;.;TRFM_HUMAN	H	73	ENSP00000296350:D73H;ENSP00000296351:D73H;ENSP00000393439:D73H	ENSP00000296350:D73H	D	-	1	0	MFI2	198238015	1.000000	0.71417	0.974000	0.42286	0.971000	0.66376	6.956000	0.76013	1.156000	0.42514	0.555000	0.69702	GAC		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			
MIOX	55586	broad.mit.edu	37	22	50926751	50926751	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr22:50926751G>A	ENST00000216075.6	+	5	462	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	MIOX_ENST00000395733.3_Nonsense_Mutation_p.W140*|MIOX_ENST00000395732.3_Missense_Mutation_p.A130T	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	130					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)	p.A130T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGGTCCTGGCCCTGTTCGG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											58.0	59.0	59.0					22																	50926751		2203	4300	6503	SO:0001583	missense	55586			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.388G>A	22.37:g.50926751G>A	ENSP00000216075:p.Ala130Thr		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	CCDS14092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.416903|5.416903	0.96092|0.96092	.|.	.|.	ENSG00000100253|ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761|ENST00000395733	.|.	.|.	.|.	4.29|4.29	3.23|3.23	0.37069|0.37069	.|.	0.232106|.	0.42548|.	D|.	0.000683|.	T|.	0.61800|.	0.2376|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B|.	0.47350|.	0.894;0.103|.	P;B|.	0.51742|.	0.678;0.151|.	T|.	0.60337|.	-0.7283|.	9|.	0.23302|0.38643	T|T	0.38|0.18	-0.0247|-0.0247	10.3413|10.3413	0.43879|0.43879	0.102:0.0:0.898:0.0|0.102:0.0:0.898:0.0	.|.	130;130|.	A6PVH2;Q9UGB7|.	.;MIOX_HUMAN|.	T|X	130;130;125|140	.|.	ENSP00000216075:A130T|ENSP00000379082:W140X	A|W	+|+	1|3	0|0	MIOX|MIOX	49273617|49273617	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.913000|0.913000	0.54294|0.54294	5.715000|5.715000	0.68430|0.68430	2.203000|2.203000	0.70933|0.70933	0.436000|0.436000	0.28706|0.28706	GCC|TGG		0.662	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1		NM_017584	
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49420872	49420872	+	Silent	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:49420872G>C	ENST00000301067.7	-	48	14876	c.14877C>G	c.(14875-14877)gcC>gcG	p.A4959A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4959	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A4689A(1)|p.A4959A(1)									GCTTGGGTCGGGCTGATTCAG	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											52.0	60.0	57.0					12																	49420872		1928	4135	6063	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14877C>G	12.37:g.49420872G>C			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																																	10	Substitution - Missense(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)											15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T	rs199540819	byFrequency	TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	430	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582													.|||	29	0.00579073	0.0038	0.0202	5008	,	,		20547	0.002		0.006	False		,,,				2504	0.002																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											71.0	43.0	51.0					3																	195515435		692	1591	2283	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3016G>A	3.37:g.195515435C>T	ENSP00000417498:p.Ala1006Thr		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135729	0.21123	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.49	0.06403	.	.	.	.	.	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.23154	-1.0196	8	.	.	.	.	2.3206	0.04209	0.2815:0.1916:0.0:0.5269	.	1006	E7ESK3	.	T	1006	ENSP00000417498:A1006T;ENSP00000420243:A1006T	.	A	-	1	0	MUC4	196999830	.	.	0.001000	0.08648	0.173000	0.22820	.	.	-0.641000	0.05487	0.064000	0.15345	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NINL	22981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25442206	25442206	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:25442206C>A	ENST00000278886.6	-	21	3721	c.3648G>T	c.(3646-3648)caG>caT	p.Q1216H	NINL_ENST00000464285.1_5'Flank|NINL_ENST00000422516.1_Missense_Mutation_p.Q867H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1216					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.Q1216H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCATGGCAGCTGCAGGCTCT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											177.0	152.0	161.0					20																	25442206		2203	4300	6503	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3648G>T	20.37:g.25442206C>A	ENSP00000278886:p.Gln1216His		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	7.164	0.586218	0.13749	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.33654	1.67;1.4	5.33	-0.848	0.10727	.	0.681914	0.14237	N	0.332312	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B;P	0.41748	0.167;0.761	B;B	0.34824	0.128;0.19	T	0.14254	-1.0479	10	0.62326	D	0.03	-0.2719	5.4055	0.16318	0.1483:0.4247:0.0:0.427	.	867;1216	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	H	1216;867	ENSP00000278886:Q1216H;ENSP00000410431:Q867H	ENSP00000278886:Q1216H	Q	-	3	2	NINL	25390206	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.504000	0.06375	-0.180000	0.10637	-0.351000	0.07748	CAG		0.498	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176	
NTRK1	4914	hgsc.bcm.edu;ucsc.edu	37	1	156845351	156845351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:156845351delC	ENST00000524377.1	+	12	1435	c.1394delC	c.(1393-1395)tccfs	p.S465fs	NTRK1_ENST00000358660.3_Frame_Shift_Del_p.S459fs|NTRK1_ENST00000368196.3_Frame_Shift_Del_p.S459fs|NTRK1_ENST00000392302.2_Frame_Shift_Del_p.S429fs	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	465					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGGCCATGTCCCTGCATTTC	0.617			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	0													84.0	77.0	80.0					1																	156845351		2203	4300	6503	SO:0001589	frameshift_variant	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1394delC	1.37:g.156845351delC	ENSP00000431418:p.Ser465fs		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Frame_Shift_Del	DEL	ENST00000524377.1	37	CCDS1161.1																																																																																				0.617	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1		NM_002529	
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	56077194	56077194	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr10:56077194G>T	ENST00000320301.6	-	8	1107	c.713C>A	c.(712-714)gCc>gAc	p.A238D	PCDH15_ENST00000395446.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395442.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395445.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395430.1_Missense_Mutation_p.A238D|PCDH15_ENST00000395432.2_Missense_Mutation_p.A201D|PCDH15_ENST00000373957.3_Missense_Mutation_p.A216D|PCDH15_ENST00000414778.1_Missense_Mutation_p.A243D|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.A238D|PCDH15_ENST00000373965.2_Missense_Mutation_p.A238D|PCDH15_ENST00000361849.3_Missense_Mutation_p.A238D|PCDH15_ENST00000395433.1_Missense_Mutation_p.A216D|PCDH15_ENST00000395438.1_Missense_Mutation_p.A238D|PCDH15_ENST00000437009.1_Missense_Mutation_p.A238D|PCDH15_ENST00000373955.1_Missense_Mutation_p.A238D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A238D(2)|p.A243D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGATTTTGGGCACGGTCCTG	0.473										HNSCC(58;0.16)																																							4	Substitution - Missense(4)	kidney(4)											149.0	119.0	129.0					10																	56077194		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.713C>A	10.37:g.56077194G>T	ENSP00000322604:p.Ala238Asp		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234831	0.58886	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	2.14;2.14;2.14;2.14;2.14;2.14;2.14;0.31;2.14;2.14;2.14;2.14;2.14;2.14;2.14	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75539	0.3863	M	0.69823	2.125	0.43417	D	0.995569	P;D;P;P;D;D;P;D;P;P;P;D;P;D;P	0.76494	0.952;0.996;0.877;0.771;0.999;0.991;0.955;0.992;0.756;0.756;0.952;0.986;0.803;0.99;0.877	P;D;P;P;D;P;D;D;P;P;P;P;P;P;P	0.76575	0.869;0.968;0.781;0.673;0.988;0.885;0.925;0.943;0.53;0.53;0.842;0.869;0.691;0.891;0.74	T	0.79215	-0.1895	9	0.87932	D	0	.	17.7447	0.88416	0.0:0.0:1.0:0.0	.	216;238;238;243;238;201;238;238;238;238;238;243;238;216;238	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	238;243;238;238;238;238;238;238;201;238;216;216;238;238;243;238;238	ENSP00000363076:A238D;ENSP00000410304:A243D;ENSP00000378826:A238D;ENSP00000378832:A238D;ENSP00000378833:A238D;ENSP00000378829:A238D;ENSP00000378827:A238D;ENSP00000378820:A201D;ENSP00000354950:A238D;ENSP00000378821:A216D;ENSP00000363068:A216D;ENSP00000322604:A238D;ENSP00000378818:A238D;ENSP00000412628:A238D;ENSP00000363066:A238D	ENSP00000322604:A238D	A	-	2	0	PCDH15	55747200	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	6.471000	0.73562	2.346000	0.79739	0.557000	0.71058	GCC		0.473	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056	
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57326087	57326087	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:57326087A>C	ENST00000326441.9	-	10	4086	c.3723T>G	c.(3721-3723)aaT>aaG	p.N1241K	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.N1115K|PEG3_ENST00000423103.2_Missense_Mutation_p.N1241K|PEG3_ENST00000598410.1_Missense_Mutation_p.N1117K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1241					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.N1241K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATATGCTCATTAAGGGCAG	0.498																																																	2	Substitution - Missense(2)	kidney(2)											54.0	49.0	51.0					19																	57326087		2203	4300	6503	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3723T>G	19.37:g.57326087A>C	ENSP00000326581:p.Asn1241Lys		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021820	0.19433	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.26518	1.73;1.73	4.06	-5.01	0.02991	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.478580	0.04041	N	0.303025	T	0.13329	0.0323	N	0.17631	0.505	.	.	.	B;P;P	0.43938	0.011;0.822;0.822	B;B;B	0.40702	0.016;0.338;0.338	T	0.18461	-1.0336	9	0.05959	T	0.93	-5.6957	8.1213	0.30974	0.1959:0.3711:0.433:0.0	.	1117;1241;1176	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1241	ENSP00000326581:N1241K;ENSP00000403051:N1241K	ENSP00000326581:N1241K	N	-	3	2	ZIM2	62017899	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	-0.914000	0.04038	-1.321000	0.02281	-0.250000	0.11733	AAT		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			
PLA2G4E	123745	hgsc.bcm.edu	37	15	42302338	42302338	+	Frame_Shift_Del	DEL	A	A	-	rs28736629|rs59057790|rs547723807	byFrequency	TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr15:42302338delA	ENST00000413860.2	-	1	107	c.108delT	c.(106-108)ggtfs	p.G38fs	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	48	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.A39fs*19(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGCCCCCCCACCCCGGGCCT	0.592																																																	1	Deletion - Frameshift(1)	ovary(1)											53.0	67.0	62.0					15																	42302338		1855	4078	5933	SO:0001589	frameshift_variant	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.108delT	15.37:g.42302338delA	ENSP00000413897:p.Gly38fs		Q6ZSC0	Frame_Shift_Del	DEL	ENST00000413860.2	37																																																																																					0.592	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding			NM_198442	
PLBD1	79887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14656715	14656715	+	Silent	SNP	A	A	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:14656715A>G	ENST00000240617.5	-	11	2305	c.1653T>C	c.(1651-1653)gaT>gaC	p.D551D		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	551					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.D551D(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCATTTTATATCAAGTTTCA	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	96.0	96.0					12																	14656715		2203	4300	6503	SO:0001819	synonymous_variant	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1653T>C	12.37:g.14656715A>G			A8K4E9|Q9BVV3|Q9H625	Silent	SNP	ENST00000240617.5	37	CCDS31751.1																																																																																				0.358	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1		NM_024829	
PLCB4	5332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	9374306	9374306	+	Silent	SNP	G	G	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr20:9374306G>T	ENST00000378493.1	+	15	1410	c.1395G>T	c.(1393-1395)ctG>ctT	p.L465L	PLCB4_ENST00000278655.4_Silent_p.L465L|PLCB4_ENST00000334005.3_Silent_p.L465L|PLCB4_ENST00000378501.2_Silent_p.L465L|PLCB4_ENST00000414679.2_Silent_p.L465L|PLCB4_ENST00000378473.3_Silent_p.L465L|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	465					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L465L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACAAGCGGCTGAAACCTGAAG	0.363											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											54.0	56.0	55.0					20																	9374306		2203	4300	6503	SO:0001819	synonymous_variant	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1395G>T	20.37:g.9374306G>T		656	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	CCDS13105.1																																																																																				0.363	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			
PLCD4	84812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219487602	219487602	+	Splice_Site	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr2:219487602G>C	ENST00000450993.2	+	6	1111		c.e6+1		PLCD4_ENST00000432688.1_Splice_Site|U3_ENST00000516996.1_RNA|PLCD4_ENST00000417849.1_Splice_Site	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4						acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGACAGTGGTAAGAGAAAT	0.502																																																	1	Unknown(1)	kidney(1)											97.0	96.0	96.0					2																	219487602		1993	4179	6172	SO:0001630	splice_region_variant	84812			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.772+1G>C	2.37:g.219487602G>C			Q53FS8	Splice_Site	SNP	ENST00000450993.2	37	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122353	0.77436	.	.	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000457426;ENST00000417849;ENST00000432688	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5936	0.88004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCD4	219195846	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	9.021000	0.93673	2.483000	0.83821	0.655000	0.94253	.		0.502	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			Intron
PTPN7	5778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202117740	202117740	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:202117740G>C	ENST00000308986.5	-	10	1207	c.1077C>G	c.(1075-1077)agC>agG	p.S359R	PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Missense_Mutation_p.S398R|PTPN7_ENST00000544762.1_Missense_Mutation_p.S135R|PTPN7_ENST00000309017.3_Missense_Mutation_p.S464R|PTPN7_ENST00000543735.1_Missense_Mutation_p.S188R			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	359					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)	p.S398R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGGGTCAGGGGCTGGGTTCCT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											71.0	66.0	68.0					1																	202117740		2203	4300	6503	SO:0001583	missense	5778			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.1077C>G	1.37:g.202117740G>C	ENSP00000311133:p.Ser359Arg		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37		.	.	.	.	.	.	.	.	.	.	G	9.341	1.062946	0.19987	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000544762;ENST00000543735;ENST00000477554	T;T;T;T;T;T	0.11821	3.68;3.66;3.72;2.74;3.12;3.63	5.07	-0.979	0.10276	.	0.711655	0.13404	N	0.390388	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.10296	0.002;0.0;0.0;0.003	B;B;B;B	0.11329	0.003;0.002;0.002;0.006	T	0.29761	-1.0001	10	0.59425	D	0.04	.	5.9299	0.19132	0.3297:0.0:0.5436:0.1267	.	433;307;359;398	B4DZD9;B4DVF0;P35236;P35236-2	.;.;PTN7_HUMAN;.	R	398;464;359;135;188;440	ENSP00000356248:S398R;ENSP00000309116:S464R;ENSP00000311133:S359R;ENSP00000438272:S135R;ENSP00000444624:S188R;ENSP00000418416:S440R	ENSP00000311133:S359R	S	-	3	2	PTPN7	200384363	0.828000	0.29307	0.704000	0.30370	0.445000	0.32107	0.263000	0.18478	-0.073000	0.12842	-0.258000	0.10820	AGC		0.642	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_002832	
SCAF8	22828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155153658	155153658	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr6:155153658C>T	ENST00000367178.3	+	20	3521	c.2945C>T	c.(2944-2946)cCt>cTt	p.P982L	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Missense_Mutation_p.P1048L|SCAF8_ENST00000417268.1_Missense_Mutation_p.P982L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	982	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.P982L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAGAAAGACCTTTTTTAGCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											88.0	95.0	92.0					6																	155153658		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2945C>T	6.37:g.155153658C>T	ENSP00000356146:p.Pro982Leu		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117572	0.56505	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.50001	0.8;0.8;0.76	5.59	5.59	0.84812	.	0.077325	0.52532	U	0.000061	T	0.48429	0.1499	L	0.27053	0.805	0.53688	D	0.99997	D;D;D	0.76494	0.958;0.958;0.999	P;P;D	0.66084	0.63;0.63;0.941	T	0.45279	-0.9272	10	0.42905	T	0.14	.	19.5982	0.95549	0.0:1.0:0.0:0.0	.	1027;1048;982	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	L	982;982;1048	ENSP00000356146:P982L;ENSP00000413098:P982L;ENSP00000356154:P1048L	ENSP00000356146:P982L	P	+	2	0	SCAF8	155195350	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.335000	0.52105	2.644000	0.89710	0.561000	0.74099	CCT		0.448	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892	
S100A12	6283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153346341	153346341	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:153346341C>T	ENST00000368737.3	-	3	358	c.241G>A	c.(241-243)Gcg>Acg	p.A81T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	81	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)	p.A81T(1)		endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	GCCTTCAGCGCAATGGCTACC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											131.0	132.0	132.0					1																	153346341		2203	4300	6503	SO:0001583	missense	6283			BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10489	protein-coding gene	gene with protein product		603112	"""S100 calcium-binding protein A12 (calgranulin C)"", ""S100 calcium binding protein A12 (calgranulin C)"""			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.241G>A	1.37:g.153346341C>T	ENSP00000357726:p.Ala81Thr		P83219|Q5SY66|Q7M4R1	Missense_Mutation	SNP	ENST00000368737.3	37	CCDS1037.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494367	0.26774	.	.	ENSG00000163221	ENST00000368737	T	0.05996	3.36	3.95	-0.185	0.13276	EF-hand-like domain (1);	0.616073	0.15666	N	0.250659	T	0.01387	0.0045	.	.	.	0.09310	N	1	B	0.25235	0.121	B	0.20767	0.031	T	0.44251	-0.9340	9	0.87932	D	0	.	3.1656	0.06534	0.3649:0.4279:0.0:0.2071	.	81	P80511	S10AC_HUMAN	T	81	ENSP00000357726:A81T	ENSP00000357726:A81T	A	-	1	0	S100A12	151612965	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.759000	0.26461	-0.017000	0.14103	-0.136000	0.14681	GCG		0.443	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036795.1		NM_005621	
SLC22A6	9356	broad.mit.edu;hgsc.bcm.edu	37	11	62744780	62744780	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:62744780G>A	ENST00000377871.3	-	9	1707	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L481F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	481					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L481F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAGGGGTAGAGCTCGGCAGTC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											76.0	64.0	68.0					11																	62744780		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1441C>T	11.37:g.62744780G>A	ENSP00000367102:p.Leu481Phe		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339957	0.11069	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871	T;T	0.74106	-0.81;-0.81	4.76	0.552	0.17230	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.440571	0.24287	N	0.039855	T	0.52581	0.1743	N	0.25647	0.755	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.15484	0.013;0.005	T	0.18618	-1.0331	10	0.17832	T	0.49	.	4.3208	0.11016	0.1784:0.0:0.3765:0.4451	.	481;481	Q4U2R8;Q4U2R8-2	S22A6_HUMAN;.	F	481;460;481	ENSP00000353597:L481F;ENSP00000367102:L481F	ENSP00000353597:L481F	L	-	1	0	SLC22A6	62501356	0.000000	0.05858	0.994000	0.49952	0.476000	0.33039	-1.421000	0.02455	0.187000	0.20147	0.561000	0.74099	CTC		0.647	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1		NM_004790	
SIK2	23235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111591281	111591281	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr11:111591281C>G	ENST00000304987.3	+	11	1748	c.1575C>G	c.(1573-1575)gaC>gaG	p.D525E	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	525					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.D525E(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTCAGAGGGACCTGAACTTTC	0.473																																																	1	Substitution - Missense(1)	kidney(1)											126.0	123.0	124.0					11																	111591281		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1575C>G	11.37:g.111591281C>G	ENSP00000305976:p.Asp525Glu		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766153	0.49574	.	.	ENSG00000170145	ENST00000304987	T	0.73789	-0.78	5.53	2.41	0.29592	.	0.092891	0.64402	N	0.000001	T	0.59824	0.2222	L	0.51422	1.61	0.41062	D	0.985386	B	0.11235	0.004	B	0.10450	0.005	T	0.44436	-0.9328	10	0.09843	T	0.71	.	5.073	0.14617	0.0:0.5609:0.1659:0.2732	.	525	Q9H0K1	SIK2_HUMAN	E	525	ENSP00000305976:D525E	ENSP00000305976:D525E	D	+	3	2	SIK2	111096491	0.848000	0.29623	1.000000	0.80357	0.996000	0.88848	0.019000	0.13444	0.863000	0.35553	0.655000	0.94253	GAC		0.473	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3		NM_015191	
SOS2	6655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50626575	50626575	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr14:50626575T>G	ENST00000216373.5	-	10	1700	c.1426A>C	c.(1426-1428)Act>Cct	p.T476P	SOS2_ENST00000543680.1_Missense_Mutation_p.T443P|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	476	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T476P(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GGAAGCCGAGTCTGGCCATGA	0.378																																																	2	Substitution - Missense(2)	kidney(2)											142.0	139.0	140.0					14																	50626575		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1426A>C	14.37:g.50626575T>G	ENSP00000216373:p.Thr476Pro		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	3.553	-0.091353	0.07053	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79247	-1.25;-1.12	5.87	4.72	0.59763	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.149498	0.64402	D	0.000006	T	0.58779	0.2146	N	0.11255	0.115	0.53688	D	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.52253	-0.8600	10	0.36615	T	0.2	.	9.9047	0.41368	0.7693:0.0:0.0:0.2307	.	443;506;476	B7ZKT6;Q59G32;Q07890	.;.;SOS2_HUMAN	P	476;443	ENSP00000216373:T476P;ENSP00000445328:T443P	ENSP00000216373:T476P	T	-	1	0	SOS2	49696325	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.599000	0.54045	1.042000	0.40150	0.528000	0.53228	ACT		0.378	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			
SRGAP1	57522	hgsc.bcm.edu;ucsc.edu	37	12	64472751	64472752	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr12:64472751_64472752insC	ENST00000355086.3	+	9	1702_1703	c.1178_1179insC	c.(1177-1182)atcgagfs	p.E394fs	SRGAP1_ENST00000357825.3_Frame_Shift_Ins_p.E394fs|SRGAP1_ENST00000543397.1_Frame_Shift_Ins_p.E354fs|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	394	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGTCACCATCGAGGACTATG	0.431																																																	0																																										SO:0001589	frameshift_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1179dupC	12.37:g.64472752_64472752dupC	ENSP00000347198:p.Glu394fs		Q9H8A3|Q9P2P2	Frame_Shift_Ins	INS	ENST00000355086.3	37	CCDS8967.1																																																																																				0.431	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			
TGM1	7051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24731316	24731316	+	Silent	SNP	G	G	A			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr14:24731316G>A	ENST00000206765.6	-	2	366	c.243C>T	c.(241-243)ggC>ggT	p.G81G	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	81	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G81G(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCCCCGGGAGCCAGGTCTTC	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	53.0	50.0					14																	24731316		2203	4300	6503	SO:0001819	synonymous_variant	7051			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.243C>T	14.37:g.24731316G>A			B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	CCDS9622.1																																																																																				0.652	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6		NM_000359	
UHRF2	115426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	6420934	6420934	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr9:6420934T>C	ENST00000276893.5	+	2	344	c.176T>C	c.(175-177)tTt>tCt	p.F59S	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.F59S	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	59	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F59S(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TATACCTTATTTGATTATGAT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											86.0	84.0	85.0					9																	6420934		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.176T>C	9.37:g.6420934T>C	ENSP00000276893:p.Phe59Ser		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394948	0.83011	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.70986	-0.53;-0.53	5.46	5.46	0.80206	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	N	0.11870	0.19	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.78510	-0.2176	10	0.87932	D	0	-17.5353	15.5225	0.75875	0.0:0.0:0.0:1.0	.	59	Q96PU4	UHRF2_HUMAN	S	59	ENSP00000276893:F59S;ENSP00000370778:F59S	ENSP00000276893:F59S	F	+	2	0	UHRF2	6410934	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.879000	0.75572	2.060000	0.61445	0.383000	0.25322	TTT		0.358	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3		NM_152306	
USH2A	7399	broad.mit.edu;ucsc.edu	37	1	215987118	215987118	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr1:215987118A>C	ENST00000307340.3	-	49	10085	c.9699T>G	c.(9697-9699)aaT>aaG	p.N3233K	USH2A_ENST00000366943.2_Missense_Mutation_p.N3233K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3233					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N3233K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCACTGATGATTTGGTTGTG	0.448										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	kidney(1)											137.0	127.0	130.0					1																	215987118		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9699T>G	1.37:g.215987118A>C	ENSP00000305941:p.Asn3233Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	9.482	1.098360	0.20552	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12984	2.64;2.63	5.8	-11.6	0.00059	Fibronectin, type III (2);	0.521154	0.15623	U	0.252781	T	0.04497	0.0123	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10706	-1.0618	10	0.26408	T	0.33	.	4.3216	0.11020	0.1926:0.1967:0.4413:0.1694	.	3233	O75445	USH2A_HUMAN	K	3233	ENSP00000305941:N3233K;ENSP00000355910:N3233K	ENSP00000305941:N3233K	N	-	3	2	USH2A	214053741	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.659000	0.01975	-2.172000	0.00774	-1.431000	0.01090	AAT		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188248	10188248	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr3:10188248A>T	ENST00000256474.2	+	2	1231	c.391A>T	c.(391-393)Aac>Tac	p.N131Y	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N131fs*28(2)|p.N131fs*2(2)|p.N131Y(2)|p.N131*(1)|p.H125fs*27(1)|p.?fs(1)|p.V130fs*28(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCTTCTGGTTAACCAAACTGA	0.458		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - Missense(2)	kidney(10)											206.0	190.0	195.0					3																	10188248		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.391A>T	3.37:g.10188248A>T	ENSP00000256474:p.Asn131Tyr		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.531249	0.64972	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99816	-6.91	5.07	3.92	0.45320	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98231	1.0483	10	0.72032	D	0.01	-21.5782	9.0517	0.36380	0.9118:0.0:0.0882:0.0	.	131	P40337	VHL_HUMAN	Y	131;49	ENSP00000256474:N131Y	ENSP00000256474:N131Y	N	+	1	0	VHL	10163248	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	6.899000	0.75682	0.901000	0.36495	0.460000	0.39030	AAC		0.458	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF302	55900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35175869	35175869	+	Silent	SNP	A	A	G			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:35175869A>G	ENST00000446502.2	+	6	1267	c.1059A>G	c.(1057-1059)caA>caG	p.Q353Q	ZNF302_ENST00000423823.2_Silent_p.Q309Q|ZNF302_ENST00000505242.1_Silent_p.Q309Q|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.Q309Q			Q9NR11	ZN302_HUMAN	zinc finger protein 302	388					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)	p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCATACGCAAGAAAAACGCT	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	66.0	65.0					19																	35175869		2203	4300	6503	SO:0001819	synonymous_variant	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1059A>G	19.37:g.35175869A>G			Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37																																																																																					0.418	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			
ZNF528	84436	hgsc.bcm.edu;ucsc.edu	37	19	52918827	52918827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5108-01A-01D-1421-08	TCGA-B0-5108-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d1d37af8-d2c3-4825-8e47-1a2e52e3acbb	39bbe17d-0e43-43a7-920f-88547ae97ebf	g.chr19:52918827delA	ENST00000360465.3	+	7	1148	c.722delA	c.(721-723)tacfs	p.Y241fs	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	241					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)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAGAAGCCTTACAAATGTCAT	0.388																																																	0													86.0	84.0	85.0					19																	52918827		2203	4300	6503	SO:0001589	frameshift_variant	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.722delA	19.37:g.52918827delA	ENSP00000353652:p.Tyr241fs		B3KPN4|Q86T88|Q96JK0	Frame_Shift_Del	DEL	ENST00000360465.3	37	CCDS33091.1																																																																																				0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1		NM_032423	
