#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
ABCB6	10058	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220075171	220075171	+	Missense_Mutation	SNP	A	A	C	rs151051476	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:220075171A>C	ENST00000265316.3	-	17	2599	c.2283T>G	c.(2281-2283)aaT>aaG	p.N761K	ABCB6_ENST00000439002.2_Missense_Mutation_p.N715K	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	761	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.N761K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCCTCTCATTAGATGTAT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											71.0	65.0	67.0					2																	220075171		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2283T>G	2.37:g.220075171A>C	ENSP00000265316:p.Asn761Lys		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	CCDS2436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.868310|2.868310	0.51588|0.51588	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.83914	.|-1.78;-1.78	5.66|5.66	-4.34|-4.34	0.03666|0.03666	.|ATPase, AAA+ type, core (1);ABC transporter-like (1);	.|0.050522	.|0.85682	.|D	.|0.000000	T|T	0.71195|0.71195	0.3311|0.3311	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33748	.|0.423;0.298	.|B;B	.|0.31290	.|0.127;0.06	T|T	0.56691|0.56691	-0.7937|-0.7937	5|10	.|0.87932	.|D	.|0	-9.2869|-9.2869	3.8108|3.8108	0.08796|0.08796	0.3803:0.1142:0.3946:0.1109|0.3803:0.1142:0.3946:0.1109	.|.	.|715;761	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	R|K	609|761;715	.|ENSP00000265316:N761K;ENSP00000394333:N715K	.|ENSP00000265316:N761K	M|N	-|-	2|3	0|2	ABCB6|ABCB6	219783415|219783415	0.000000|0.000000	0.05858|0.05858	0.145000|0.145000	0.22337|0.22337	0.997000|0.997000	0.91878|0.91878	-2.933000|-2.933000	0.00687|0.00687	-0.676000|-0.676000	0.05238|0.05238	0.528000|0.528000	0.53228|0.53228	ATG|AAT		0.572	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2		NM_005689	
ABCF1	23	hgsc.bcm.edu	37	6	30558477	30558478	+	Stop_Codon_Ins	INS	-	-	A	rs76018112|rs548415581	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:30558477_30558478insA	ENST00000326195.8	+	0	2649_2650				ABCF1_ENST00000376545.3_Stop_Codon_Ins|ABCF1_ENST00000396515.4_Stop_Codon_Ins	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1						inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CCCCGAGAGTGAGCTTTCCTTC	0.564													A|A|AA|insertion	3576	0.714058	0.73	0.5937	5008	,	,		19175	0.6736		0.6789	False		,,,				2504	0.8558																0									,	2545,933		984,577,178					,	5.4	1.0		dbSNP_130	106	4558,2170		1686,1186,492	no	frameshift,frameshift	ABCF1	NM_001090.2,NM_001025091.1	,	2670,1763,670	A1A1,A1R,RR		32.2533,26.8258,30.4037	,	,		7103,3103				SO:0001567	stop_retained_variant	23			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2536dupA	6.37:g.30558478_30558478dupA			A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	CCDS34380.1																																																																																				0.564	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			
AOC1	26	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150558103	150558103	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:150558103C>G	ENST00000493429.1	+	7	2646	c.2062C>G	c.(2062-2064)Cct>Gct	p.P688A	AOC1_ENST00000467291.1_Missense_Mutation_p.P688A|AOC1_ENST00000360937.4_Missense_Mutation_p.P688A|AOC1_ENST00000416793.2_Missense_Mutation_p.P707A|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	688					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.P688A(1)								Amiloride(DB00594)	CACAGCCACACCTGGGAACTC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											62.0	75.0	70.0					7																	150558103		2068	4206	6274	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2062C>G	7.37:g.150558103C>G	ENSP00000418614:p.Pro688Ala		C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462852	0.26248	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.39397	1.21	0.58432	D	0.999999	B;D	0.59767	0.178;0.986	B;P	0.56865	0.129;0.808	T	0.12578	-1.0542	10	0.12103	T	0.63	-64.0508	15.8232	0.78676	0.0:1.0:0.0:0.0	.	707;688	C9J690;P19801	.;ABP1_HUMAN	A	688;688;688;707;564	ENSP00000418614:P688A;ENSP00000418328:P688A;ENSP00000354193:P688A;ENSP00000411613:P707A	ENSP00000354193:P688A	P	+	1	0	ABP1	150189036	0.000000	0.05858	0.826000	0.32828	0.985000	0.73830	1.078000	0.30754	2.323000	0.78572	0.484000	0.47621	CCT		0.622	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1		NM_001091	
ASIC5	51802	hgsc.bcm.edu;ucsc.edu	37	4	156787340	156787340	+	Splice_Site	DEL	G	G	-	rs6848883	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:156787340delG	ENST00000537611.2	-	1	85	c.39delC	c.(37-39)aac>aa	p.N13fs		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	13					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.N13N(1)									TTTACTCACCGTTCTCAGCAT	0.348																																																	1	Substitution - coding silent(1)	prostate(1)											155.0	141.0	146.0					4																	156787340		2203	4299	6502	SO:0001630	splice_region_variant	0			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.40+1C>-	4.37:g.156787340delG				Frame_Shift_Del	DEL	ENST00000537611.2	37	CCDS3793.1																																																																																				0.348	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			Frame_Shift_Del
ACSM1	116285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20651789	20651789	+	Silent	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:20651789C>T	ENST00000307493.4	-	7	1177	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.S370S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	370					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S370S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTACCGTTTCCGACTGCCCAT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											121.0	93.0	102.0					16																	20651789		2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1110G>A	16.37:g.20651789C>T			Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	0.670	-0.802347	0.02841	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.74	-4.9	0.03094	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60546	-0.7242	4	.	.	.	.	13.8347	0.63402	0.0:0.5663:0.0:0.4337	.	.	.	.	Q	76	.	.	R	-	2	0	ACSM1	20559290	0.198000	0.23374	0.640000	0.29408	0.034000	0.12701	-1.710000	0.01888	-1.675000	0.01459	-1.243000	0.01532	CGG		0.493	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1		NM_052956	
ACTC1	70	broad.mit.edu;hgsc.bcm.edu	37	15	35085454	35085454	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:35085454C>T	ENST00000290378.4	-	3	1101	c.446G>A	c.(445-447)cGt>cAt	p.R149H	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	149					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)	p.R149H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGTGGTACGGCCAGAAGC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											84.0	78.0	80.0					15																	35085454		2201	4298	6499	SO:0001583	missense	70			BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.446G>A	15.37:g.35085454C>T	ENSP00000290378:p.Arg149His		P04270	Missense_Mutation	SNP	ENST00000290378.4	37	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.309046	0.60414	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.98455	-4.94	5.63	5.63	0.86233	.	0.000000	0.51477	U	0.000100	D	0.99290	0.9752	H	0.95114	3.625	0.80722	D	1	D	0.53462	0.96	D	0.64042	0.921	D	0.98877	1.0768	10	0.87932	D	0	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	149	P68032	ACTC_HUMAN	H	149;114	ENSP00000290378:R149H	ENSP00000290378:R149H	R	-	2	0	ACTC1	32872746	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.070000	0.71220	2.814000	0.96858	0.655000	0.94253	CGT		0.517	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3		NM_005159	
ADAM2	2515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	39624434	39624434	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:39624434A>C	ENST00000265708.4	-	14	1543	c.1440T>G	c.(1438-1440)aaT>aaG	p.N480K	ADAM2_ENST00000379853.2_Missense_Mutation_p.N354K|ADAM2_ENST00000347580.4_Missense_Mutation_p.N461K|ADAM2_ENST00000521880.1_Missense_Mutation_p.N480K	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	480	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N480K(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGATCCATTGATTCAGTCCAC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											157.0	147.0	150.0					8																	39624434		2203	4300	6503	SO:0001583	missense	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1440T>G	8.37:g.39624434A>C	ENSP00000265708:p.Asn480Lys		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	2.456	-0.325245	0.05350	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.08	-0.0421	0.13865	ADAM, cysteine-rich (2);	.	.	.	.	T	0.26629	0.0651	M	0.74389	2.26	0.09310	N	1	B;P;B;B	0.48089	0.126;0.905;0.049;0.06	B;P;B;B	0.47827	0.145;0.558;0.09;0.145	T	0.13656	-1.0501	8	.	.	.	.	3.7446	0.08542	0.5725:0.1891:0.2385:0.0	.	480;354;461;480	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	K	461;354;480;480	ENSP00000343854:N461K;ENSP00000369182:N354K;ENSP00000265708:N480K;ENSP00000429352:N480K	.	N	-	3	2	ADAM2	39743591	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.995000	0.03712	-0.093000	0.12396	-0.408000	0.06270	AAT		0.403	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1		NM_001464	
AKAP11	11215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42891796	42891796	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr13:42891796A>T	ENST00000025301.2	+	12	5712	c.5537A>T	c.(5536-5538)cAt>cTt	p.H1846L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1846					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)	p.H1846L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTTTATTTTCATGACTCTGCA	0.408																																																	1	Substitution - Missense(1)	kidney(1)											101.0	87.0	92.0					13																	42891796		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5537A>T	13.37:g.42891796A>T	ENSP00000025301:p.His1846Leu		O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909274	0.33721	.	.	ENSG00000023516	ENST00000025301	T	0.13657	2.57	5.79	3.45	0.39498	.	0.331506	0.27027	N	0.021297	T	0.09468	0.0233	L	0.51422	1.61	0.22127	N	0.999343	P	0.38078	0.617	B	0.33960	0.173	T	0.16041	-1.0416	10	0.13853	T	0.58	.	5.6084	0.17392	0.7079:0.0:0.1625:0.1296	.	1846	Q9UKA4	AKA11_HUMAN	L	1846	ENSP00000025301:H1846L	ENSP00000025301:H1846L	H	+	2	0	AKAP11	41789796	0.980000	0.34600	1.000000	0.80357	0.992000	0.81027	1.676000	0.37565	2.200000	0.70718	0.455000	0.32223	CAT		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2		NM_016248	
AKAP6	9472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	33292170	33292170	+	Silent	SNP	G	G	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:33292170G>C	ENST00000280979.4	+	13	5321	c.5151G>C	c.(5149-5151)tcG>tcC	p.S1717S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1717					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S1717S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGAATGCATCGTTCAGGAAGC	0.468																																					Melanoma(49;821 1200 7288 13647 42351)												1	Substitution - coding silent(1)	kidney(1)											169.0	144.0	153.0					14																	33292170		2203	4300	6503	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5151G>C	14.37:g.33292170G>C			A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274	
ALPK2	115701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	56204268	56204268	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:56204268A>G	ENST00000361673.3	-	5	3364	c.3151T>C	c.(3151-3153)Ttt>Ctt	p.F1051L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1051						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F412L(1)|p.F1051L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGGAAGGAAATTGGGAAACC	0.498																																																	2	Substitution - Missense(2)	kidney(2)											111.0	102.0	105.0					18																	56204268		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3151T>C	18.37:g.56204268A>G	ENSP00000354991:p.Phe1051Leu		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	2.489	-0.317794	0.05386	.	.	ENSG00000198796	ENST00000361673	T	0.28666	1.6	5.7	-1.8	0.07907	.	2.334980	0.01288	N	0.009928	T	0.13030	0.0316	N	0.02315	-0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38802	-0.9644	10	0.02654	T	1	3.5805	13.0636	0.59020	0.2454:0.0:0.7546:0.0	.	1046;1051	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	L	1051	ENSP00000354991:F1051L	ENSP00000354991:F1051L	F	-	1	0	ALPK2	54355248	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.515000	0.22801	-0.250000	0.09555	0.482000	0.46254	TTT		0.498	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61829377	61829377	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:61829377T>C	ENST00000280772.2	-	37	11453	c.11262A>G	c.(11260-11262)ggA>ggG	p.G3754G	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3754					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G3754G(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CATTTTCTAATCCCTGACAAC	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											130.0	139.0	136.0					10																	61829377		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11262A>G	10.37:g.61829377T>C			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.368	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ASMTL	8623	hgsc.bcm.edu	37	X	1522164	1522164	+	Stop_Codon_Del	DEL	A	A	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:1522164delA	ENST00000381317.3	-	0	1896				ASMTL_ENST00000534940.1_Stop_Codon_Del|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000416733.2_Stop_Codon_Del|ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000381333.4_Stop_Codon_Del	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like							cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGGCTTCAGGGGGCCACT	0.607													a|A|-|deletion	385	0.076877	0.025	0.1427	5008	,	,		16677	0.0635		0.1074	False		,,,				2504	0.0828																0									,,	176,3578		9,158,1710	47.0	49.0	49.0		,,	0.8	0.0	X		52	1024,6896		69,886,3005	no	frameshift,frameshift,frameshift	ASMTL	NM_004192.3,NM_001173474.1,NM_001173473.1	,,	78,1044,4715	A1A1,A1R,RR		12.9293,4.6883,10.2793	,,	,,	1522164	1200,10474	1952	4068	6020	SO:0001567	stop_retained_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	Exception_encountered	X.37:g.1522164delA	Exception_encountered		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	In_Frame_Del	DEL	ENST00000381317.3	37	CCDS43917.1																																																																																				0.607	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1		NM_004192	
ATP5S	27109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50790719	50790719	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:50790719G>A	ENST00000311459.7	+	4	798	c.418G>A	c.(418-420)Gac>Aac	p.D140N	ATP5S_ENST00000554438.1_3'UTR|RP11-247L20.4_ENST00000555403.1_lincRNA|ATP5S_ENST00000245448.6_Intron|ATP5S_ENST00000358473.1_Missense_Mutation_p.D112N	NM_001003803.2	NP_001003803.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	140					ATP biosynthetic process (GO:0006754)|hydrogen ion transmembrane transport (GO:1902600)|proton transport (GO:0015992)	mitochondrial inner membrane (GO:0005743)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|metal ion binding (GO:0046872)	p.D112N(2)|p.D140N(1)		breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TATCGAGGATGACTGTTTGCT	0.373																																																	3	Substitution - Missense(3)	kidney(3)											106.0	101.0	102.0					14																	50790719		2203	4300	6503	SO:0001583	missense	27109			U79253	CCDS32075.1, CCDS32076.1, CCDS45102.1	14q21.3	2011-04-13	2010-06-11			ENSG00000125375			18799	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)"""			11744738, 8619474	Standard	NM_015684		Approved	HSU79253, ATPW	uc001wxw.2	Q99766		ENST00000311459.7:c.418G>A	14.37:g.50790719G>A	ENSP00000308334:p.Asp140Asn		A8K1U3|D9N156|Q8WWX3|Q96F77	Missense_Mutation	SNP	ENST00000311459.7	37	CCDS32075.1	.	.	.	.	.	.	.	.	.	.	G	8.663	0.900945	0.17760	.	.	ENSG00000125375;ENSG00000125375;ENSG00000258447	ENST00000311459;ENST00000358473;ENST00000553905	T;T	0.17370	2.28;2.28	5.92	2.59	0.31030	.	0.737577	0.14087	N	0.342298	T	0.07279	0.0184	N	0.05383	-0.06	0.24816	N	0.99262	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.001	T	0.42430	-0.9452	10	0.15499	T	0.54	-0.0922	5.7988	0.18401	0.2541:0.1328:0.6131:0.0	.	112;140	Q8WXQ4;Q99766	.;ATP5S_HUMAN	N	140;112;112	ENSP00000308334:D140N;ENSP00000351258:D112N	ENSP00000308334:D140N	D	+	1	0	RP11-247L20.2;ATP5S	49860469	0.010000	0.17322	0.388000	0.26195	0.896000	0.52359	1.093000	0.30939	0.217000	0.20800	0.585000	0.79938	GAC		0.373	ATP5S-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410761.1		NM_015684	
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160268963	160268963	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:160268963G>T	ENST00000392783.2	-	14	3055	c.2560C>A	c.(2560-2562)Caa>Aaa	p.Q854K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.Q820K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.Q754K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.Q818K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	854	Arg-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q854K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTGCTCGTTGTCTATCTGGA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											248.0	218.0	228.0					2																	160268963		1954	4163	6117	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2560C>A	2.37:g.160268963G>T	ENSP00000376534:p.Gln854Lys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.47|16.47	3.133264|3.133264	0.56828|0.56828	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000441143	T;D;T;D|.	0.95821|.	0.4;-3.82;0.4;-3.82|.	5.69|5.69	5.69|5.69	0.88448|0.88448	DNA-binding, integrase-type (1);|.	0.233794|.	0.21671|.	U|.	0.070862|.	T|T	0.56761|0.56761	0.2007|0.2007	N|N	0.24115|0.24115	0.695|0.695	0.54753|0.54753	D|D	0.999982|0.999982	P;P;B;P|.	0.52692|.	0.486;0.955;0.449;0.925|.	B;P;B;P|.	0.46026|.	0.333;0.501;0.145;0.48|.	T|T	0.49986|0.49986	-0.8880|-0.8880	10|5	0.20046|.	T|.	0.44|.	-2.2151|-2.2151	19.8022|19.8022	0.96513|0.96513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	658;754;818;854|.	Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8|.	.;.;.;BAZ2B_HUMAN|.	K|K	818;854;820;754|187	ENSP00000376533:Q818K;ENSP00000376534:Q854K;ENSP00000348087:Q820K;ENSP00000339670:Q754K|.	ENSP00000339670:Q754K|.	Q|T	-|-	1|2	0|0	BAZ2B|BAZ2B	159977209|159977209	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.976000|0.976000	0.68499|0.68499	9.283000|9.283000	0.95860|0.95860	2.674000|2.674000	0.91012|0.91012	0.650000|0.650000	0.86243|0.86243	CAA|ACA		0.458	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			
BTNL9	153579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180483000	180483001	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:180483000_180483001GC>TG	ENST00000327705.9	+	9	1171_1172	c.940_941GC>TG	c.(940-942)GCt>TGt	p.A314C	BTNL9_ENST00000376842.3_Missense_Mutation_p.A315C|BTNL9_ENST00000376841.2_Missense_Mutation_p.A314C	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.A314>?(1)|p.A314G(1)|p.A314S(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGAGACGGGCTGAAGGCCAG	0.53																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	Exception_encountered	5.37:g.180483000_180483001delinsTG	ENSP00000330200:p.Ala314Cys		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	CCDS4460.2																																																																																				0.530	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3		NM_152547	
ARL14EP	120534	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	30352900	30352900	+	Silent	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:30352900G>A	ENST00000282032.3	+	2	620	c.405G>A	c.(403-405)caG>caA	p.Q135Q		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	135						cytoplasm (GO:0005737)		p.Q135Q(1)									AAGACCGCCAGAAAAGGAAAC	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	111.0	110.0					11																	30352900		2202	4299	6501	SO:0001819	synonymous_variant	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.405G>A	11.37:g.30352900G>A			Q5HYH9	Silent	SNP	ENST00000282032.3	37	CCDS7869.1																																																																																				0.358	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1		NM_152316	
GAS8	2622	hgsc.bcm.edu	37	16	90095596	90095597	+	Intron	DNP	AT	AT	GC	rs61118444|rs55742939|rs71137702	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:90095596_90095597AT>GC	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.I52A|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggcaggctatggggcagcct	0.663																																																	0																																										SO:0001627	intron_variant	750			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	Exception_encountered	16.37:g.90095596_90095597delinsGC			B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	CCDS10992.1																																																																																				0.663	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			
MCMDC2	157777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67790811	67790811	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:67790811T>A	ENST00000422365.2	+	6	655	c.484T>A	c.(484-486)Ttt>Att	p.F162I	MCMDC2_ENST00000313616.5_Missense_Mutation_p.F162I|MCMDC2_ENST00000492775.1_Missense_Mutation_p.F162I|MCMDC2_ENST00000396592.3_Missense_Mutation_p.F162I|MCMDC2_ENST00000541540.1_Missense_Mutation_p.F99I|MCMDC2_ENST00000469823.1_3'UTR	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	162					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.F162I(2)|p.F157I(1)		endometrium(2)|kidney(2)|lung(5)	9						TCTTTCAGGATTTCAGTATAT	0.303																																																	3	Substitution - Missense(3)	kidney(3)											122.0	125.0	124.0					8																	67790811		2203	4298	6501	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.484T>A	8.37:g.67790811T>A	ENSP00000413632:p.Phe162Ile		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892884	0.91889	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	T;T;T;T;T	0.27104	3.77;3.77;3.77;3.77;1.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.85130	0.997;0.994;0.994;0.997	T	0.31392	-0.9945	10	0.17369	T	0.5	-18.1314	15.3374	0.74269	0.0:0.0:0.0:1.0	.	99;162;162;162	Q4G0Z9-4;Q4G0Z9;B4DXX4;G3XAN3	.;CH045_HUMAN;.;.	I	34;162;162;162;162;99	ENSP00000379837:F162I;ENSP00000413632:F162I;ENSP00000428037:F162I;ENSP00000317234:F162I;ENSP00000445629:F99I	ENSP00000317234:F162I	F	+	1	0	C8orf45	67953365	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.323000	0.79105	2.017000	0.59298	0.482000	0.46254	TTT		0.303	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1		NM_173518	
TMEM246	84302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104238257	104238257	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:104238257T>A	ENST00000374851.1	-	4	2265	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M	TMEM246_ENST00000374848.3_Missense_Mutation_p.K373M|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.K373M|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	373						integral component of membrane (GO:0016021)		p.K373M(1)									CCTCTCTCCCTTGGCCCTCAA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											87.0	79.0	82.0					9																	104238257		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1118A>T	9.37:g.104238257T>A	ENSP00000363984:p.Lys373Met		Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349779	0.61183	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.55	5.55	0.83447	.	0.173838	0.49916	D	0.000133	T	0.60495	0.2273	L	0.47716	1.5	0.43317	D	0.995331	D	0.53151	0.958	P	0.54026	0.74	T	0.62623	-0.6815	9	0.52906	T	0.07	-26.9278	9.3921	0.38378	0.0:0.0791:0.0:0.9209	.	373	Q9BRR3	CI125_HUMAN	M	373	.	ENSP00000363980:K373M	K	-	2	0	C9orf125	103278078	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.134000	0.64770	2.118000	0.64928	0.460000	0.39030	AAG		0.602	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1		NM_032342	
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu	37	22	24451598	24451598	+	Silent	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr22:24451598C>T	ENST00000398319.2	+	9	1454	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	CABIN1_ENST00000405822.2_Silent_p.L307L|CABIN1_ENST00000263119.5_Silent_p.L357L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	357					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.L357L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGTCCTGGTCTGTTGGAGAC	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	52.0	53.0					22																	24451598		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1069C>T	22.37:g.24451598C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	CCDS13823.1																																																																																				0.617	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201013477	201013477	+	Silent	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:201013477C>G	ENST00000362061.3	-	39	5002	c.4776G>C	c.(4774-4776)gcG>gcC	p.A1592A	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Silent_p.A1573A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1592					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1592A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCCTCCATCGCAGCCTCCA	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	71.0	76.0					1																	201013477		2203	4300	6503	SO:0001819	synonymous_variant	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4776G>C	1.37:g.201013477C>G			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	CCDS1407.1																																																																																				0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CD19	930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28944420	28944420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:28944420C>T	ENST00000324662.3	+	3	588	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	CD19_ENST00000538922.1_Nonsense_Mutation_p.Q182*|CD19_ENST00000567541.1_Nonsense_Mutation_p.Q182*			P15391	CD19_HUMAN	CD19 molecule	182	Ig-like C2-type 2.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)	p.Q182*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CAGCCTGAACCAGAGCCTCAG	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											36.0	32.0	33.0					16																	28944420		2197	4300	6497	SO:0001587	stop_gained	930				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.544C>T	16.37:g.28944420C>T	ENSP00000313419:p.Gln182*		A0N0P9|F5H635|Q96S68|Q9BRD6	Nonsense_Mutation	SNP	ENST00000324662.3	37	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535800	0.64972	.	.	ENSG00000177455	ENST00000538922;ENST00000324662;ENST00000537306	.	.	.	5.16	0.647	0.17796	.	1.070300	0.07309	N	0.875550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.1732	9.523	0.39147	0.1525:0.4032:0.4443:0.0	.	.	.	.	X	182;182;31	.	ENSP00000313419:Q182X	Q	+	1	0	CD19	28851921	0.456000	0.25744	0.002000	0.10522	0.014000	0.08584	0.465000	0.22004	-0.101000	0.12219	-0.538000	0.04264	CAG		0.617	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			
CDAN1	146059	hgsc.bcm.edu	37	15	43023193	43023194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:43023193_43023194insG	ENST00000356231.3	-	13	1959_1960	c.1936_1937insC	c.(1936-1938)ctgfs	p.L646fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	646					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCGGTATGGCAGGAAAGCCACA	0.564																																																	0																																										SO:0001589	frameshift_variant	146059			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.1937dupC	15.37:g.43023195_43023195dupG	ENSP00000348564:p.Leu646fs		Q6NYD0|Q7Z7L5|Q969N3	Frame_Shift_Ins	INS	ENST00000356231.3	37	CCDS32209.1																																																																																				0.564	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1		XM_085300	
CDC42BPB	9578	hgsc.bcm.edu;ucsc.edu	37	14	103416228	103416229	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:103416228_103416229delGT	ENST00000361246.2	-	26	3610_3611	c.3322_3323delAC	c.(3322-3324)acgfs	p.T1108fs		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTTCACCCCCGTGGGCTTTGGG	0.559																																																	0																																										SO:0001589	frameshift_variant	9578			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3322_3323delAC	14.37:g.103416228_103416229delGT	ENSP00000355237:p.Thr1108fs			Frame_Shift_Del	DEL	ENST00000361246.2	37	CCDS9978.1																																																																																				0.559	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1		NM_006035	
CDS2	8760	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	5154171	5154171	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr20:5154171G>T	ENST00000460006.1	+	2	367	c.60G>T	c.(58-60)gaG>gaT	p.E20D	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	20					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)	p.E20D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCACTTAGGAGTCAGAGTCAG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											118.0	119.0	119.0					20																	5154171		2203	4300	6503	SO:0001583	missense	8760			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.60G>T	20.37:g.5154171G>T	ENSP00000419879:p.Glu20Asp		B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183224	0.21870	.	.	ENSG00000101290	ENST00000460006	T	0.45276	0.9	5.14	-0.387	0.12463	.	0.255011	0.39544	N	0.001334	T	0.26882	0.0658	L	0.38531	1.155	0.54753	D	0.99998	B	0.10296	0.003	B	0.09377	0.004	T	0.10019	-1.0648	10	0.17832	T	0.49	.	9.5102	0.39071	0.5033:0.0:0.4967:0.0	.	20	O95674	CDS2_HUMAN	D	20	ENSP00000419879:E20D	ENSP00000419879:E20D	E	+	3	2	CDS2	5102171	0.937000	0.31787	0.880000	0.34516	0.549000	0.35272	0.205000	0.17356	-0.223000	0.09943	-0.136000	0.14681	GAG		0.517	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			
CDV3	55573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	133306843	133306843	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:133306843T>C	ENST00000264993.3	+	5	1045	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	CDV3_ENST00000515421.1_Intron|CDV3_ENST00000508481.1_Missense_Mutation_p.Y142H|CDV3_ENST00000420115.2_3'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	244					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)		p.Y244H(1)		kidney(3)|lung(1)|prostate(1)	5						AGACAACCAATATGCTGTGCT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											85.0	88.0	87.0					3																	133306843		2203	4300	6503	SO:0001583	missense	55573			AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.730T>C	3.37:g.133306843T>C	ENSP00000264993:p.Tyr244His		B3KUC2|Q96IP9	Missense_Mutation	SNP	ENST00000264993.3	37	CCDS3079.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482247	0.84747	.	.	ENSG00000091527	ENST00000264993;ENST00000508481	.	.	.	5.51	5.51	0.81932	.	0.057844	0.64402	D	0.000001	T	0.79323	0.4426	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.82354	-0.0499	9	0.87932	D	0	.	15.6247	0.76845	0.0:0.0:0.0:1.0	.	244	Q9UKY7	CDV3_HUMAN	H	244;142	.	ENSP00000264993:Y244H	Y	+	1	0	CDV3	134789533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.356000	0.79445	2.106000	0.64143	0.528000	0.53228	TAT		0.408	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1		NM_017548	
CNOT8	9337	hgsc.bcm.edu;ucsc.edu	37	5	154254886	154254899	+	Frame_Shift_Del	DEL	TGTGGGCGGCTCTA	TGTGGGCGGCTCTA	-	rs199732823		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	TGTGGGCGGCTCTA	TGTGGGCGGCTCTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:154254886_154254899delTGTGGGCGGCTCTA	ENST00000517876.1	+	8	1242_1255	c.766_779delTGTGGGCGGCTCTA	c.(766-780)tgtgggcggctctatfs	p.CGRLY256fs	CNOT8_ENST00000285896.6_Frame_Shift_Del_p.CGRLY256fs|CNOT8_ENST00000521450.1_Frame_Shift_Del_p.CGRLY150fs|CNOT8_ENST00000524105.1_Frame_Shift_Del_p.CGRLY92fs|CNOT8_ENST00000521583.1_Frame_Shift_Del_p.CGRLY150fs|CNOT8_ENST00000519404.1_Frame_Shift_Del_p.CGRLY202fs|CNOT8_ENST00000403027.2_Frame_Shift_Del_p.CGRLY256fs|CNOT8_ENST00000523698.1_Frame_Shift_Del_p.CGRLY150fs|CNOT8_ENST00000520671.1_Frame_Shift_Del_p.CGRLY150fs			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	256					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCAAGTACTGTGGGCGGCTCTATGGCTTAGGC	0.472																																					NSCLC(140;1804 1895 27149 29895 35312)												0																																										SO:0001589	frameshift_variant	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.766_779delTGTGGGCGGCTCTA	5.37:g.154254886_154254899delTGTGGGCGGCTCTA	ENSP00000430493:p.Cys256fs		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Frame_Shift_Del	DEL	ENST00000517876.1	37	CCDS4329.1																																																																																				0.472	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1		NM_004779	
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16979763	16979763	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:16979763A>C	ENST00000377833.4	-	39	5819	c.5754T>G	c.(5752-5754)atT>atG	p.I1918M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1918	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.I1918M(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCGGGCGTGAATGCTAGGCC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											58.0	61.0	60.0					10																	16979763		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5754T>G	10.37:g.16979763A>C	ENSP00000367064:p.Ile1918Met		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.596973	0.28445	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.14	2.75	0.32379	CUB (5);	0.615629	0.13370	N	0.393014	T	0.24236	0.0587	L	0.52011	1.625	0.80722	D	1	P	0.48016	0.904	P	0.55615	0.78	T	0.07009	-1.0795	10	0.46703	T	0.11	.	3.6059	0.08042	0.6538:0.139:0.0738:0.1334	.	1918	O60494	CUBN_HUMAN	M	1918	ENSP00000367064:I1918M	ENSP00000367064:I1918M	I	-	3	3	CUBN	17019769	0.178000	0.23122	0.300000	0.25030	0.126000	0.20510	0.676000	0.25247	0.864000	0.35578	0.482000	0.46254	ATT		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
DICER1	23405	broad.mit.edu;ucsc.edu	37	14	95557550	95557550	+	Silent	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:95557550C>A	ENST00000526495.1	-	27	5808	c.5517G>T	c.(5515-5517)cgG>cgT	p.R1839R	DICER1_ENST00000556045.1_Silent_p.R737R|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.R1839R|DICER1_ENST00000527414.1_Silent_p.R1839R|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000343455.3_Silent_p.R1839R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1839					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.R1839R(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTATTAGTGGCCGCATCATGG	0.398			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	1	Substitution - coding silent(1)	kidney(1)											156.0	161.0	159.0					14																	95557550		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5517G>T	14.37:g.95557550C>A			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.398	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			
DLAT	1737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111930750	111930750	+	Silent	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:111930750C>G	ENST00000280346.6	+	12	2297	c.1638C>G	c.(1636-1638)acC>acG	p.T546T	DLAT_ENST00000537636.1_Silent_p.T317T|DLAT_ENST00000393051.1_Silent_p.T441T	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	546	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.T546T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CTTTAGCAACCAAAGCAAGAG	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											140.0	121.0	128.0					11																	111930750		2201	4297	6498	SO:0001819	synonymous_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1638C>G	11.37:g.111930750C>G			Q16783|Q53EP3	Silent	SNP	ENST00000280346.6	37	CCDS8354.1																																																																																				0.358	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1		NM_001931	
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	31792262	31792262	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:31792262C>G	ENST00000357033.4	-	51	7563	c.7357G>C	c.(7357-7359)Gaa>Caa	p.E2453Q	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2449Q|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2453					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E1112Q(1)|p.E2453Q(1)|p.E2449Q(1)|p.E2448Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGGCAGTTTCCTTAGTAACC	0.413																																																	4	Substitution - Missense(4)	kidney(4)											80.0	65.0	70.0					X																	31792262		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7357G>C	X.37:g.31792262C>G	ENSP00000354923:p.Glu2453Gln		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.193211|2.193211	0.38707|0.38707	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280|ENST00000465285	T;T;T|.	0.61040|.	4.06;0.14;0.14|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.38111|.	U|.	0.001819|.	T|T	0.57154|0.57154	0.2034|0.2034	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.61697|.	0.978;0.98;0.98;0.99;0.99|.	P;P;P;P;P|.	0.54238|.	0.731;0.611;0.611;0.746;0.746|.	T|T	0.53830|0.53830	-0.8383|-0.8383	10|5	0.37606|.	T|.	0.19|.	.|.	17.6536|17.6536	0.88171|0.88171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2445;2453;2449;1112;1109|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6|.	.;DMD_HUMAN;.;.;.|.	Q|A	2445;1112;1109;149;2449;2453;2453;2330|181	ENSP00000350765:E149Q;ENSP00000367948:E2449Q;ENSP00000354923:E2453Q|.	ENSP00000354923:E2453Q|.	E|G	-|-	1|2	0|0	DMD|DMD	31702183|31702183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.677000|5.677000	0.68142|0.68142	2.096000|2.096000	0.63516|0.63516	0.594000|0.594000	0.82650|0.82650	GAA|GGA		0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
DNAH3	55567	hgsc.bcm.edu;ucsc.edu	37	16	20998759	20998759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:20998759delT	ENST00000261383.3	-	47	6893	c.6894delA	c.(6892-6894)aaafs	p.K2298fs	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2298					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCGGATACATTTTTCTACAT	0.423																																																	0													68.0	67.0	67.0					16																	20998759		2201	4300	6501	SO:0001589	frameshift_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6894delA	16.37:g.20998759delT	ENSP00000261383:p.Lys2298fs		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Del	DEL	ENST00000261383.3	37	CCDS10594.1																																																																																				0.423	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	
DNAJB1	3337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14627690	14627690	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:14627690A>C	ENST00000254322.2	-	2	450	c.380T>G	c.(379-381)aTt>aGt	p.I127S	DNAJB1_ENST00000396969.4_Missense_Mutation_p.I27S	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	127					chaperone cofactor-dependent protein refolding (GO:0070389)|chaperone mediated protein folding requiring cofactor (GO:0051085)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|unfolded protein binding (GO:0051082)	p.I127S(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TGGGTCATCAATGTCCATGCC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											84.0	73.0	77.0					19																	14627690		2203	4300	6503	SO:0001583	missense	3337			D49547	CCDS12312.1, CCDS74295.1	19p13.12	2014-08-12			ENSG00000132002	ENSG00000132002		"""Heat shock proteins / DNAJ (HSP40)"""	5270	protein-coding gene	gene with protein product	"""radial spoke 16 homolog B (Chlamydomonas)"""	604572		HSPF1		8975727, 8250930	Standard	XM_006722733		Approved	Hsp40, Sis1, RSPH16B	uc002myz.1	P25685	OTTHUMG00000183289	ENST00000254322.2:c.380T>G	19.37:g.14627690A>C	ENSP00000254322:p.Ile127Ser		B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	a	13.10	2.137123	0.37728	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.58506	0.33;1.55	4.83	4.83	0.62350	.	0.243679	0.41294	D	0.000914	T	0.29423	0.0733	N	0.04090	-0.28	0.51767	D	0.999932	B	0.24618	0.107	B	0.14578	0.011	T	0.13602	-1.0503	10	0.21540	T	0.41	.	7.2228	0.25997	0.8998:0.0:0.1002:0.0	.	127	P25685	DNJB1_HUMAN	S	127;27	ENSP00000254322:I127S;ENSP00000444212:I27S	ENSP00000254322:I127S	I	-	2	0	DNAJB1	14488690	0.945000	0.32115	0.753000	0.31225	0.980000	0.70556	2.488000	0.45276	1.799000	0.52666	0.459000	0.35465	ATT		0.557	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1		NM_006145	
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001																1	Deletion - Frameshift(1)	central_nervous_system(1)											6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863			AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs			Frame_Shift_Del	DEL	ENST00000542735.1	37	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2		NM_194249	
EBF2	64641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25744310	25744310	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:25744310G>C	ENST00000520164.1	-	10	1507	c.970C>G	c.(970-972)Cag>Gag	p.Q324E	EBF2_ENST00000535548.1_Missense_Mutation_p.Q55E|EBF2_ENST00000408929.3_Missense_Mutation_p.Q176E	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	324	IPT/TIG.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q324E(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCAGAACTGTTTAGATTTA	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												2	Substitution - Missense(2)	kidney(2)											101.0	98.0	99.0					8																	25744310		1872	4110	5982	SO:0001583	missense	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.970C>G	8.37:g.25744310G>C	ENSP00000430241:p.Gln324Glu		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826047	0.90955	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.76448	-1.02;-1.02;1.04	5.58	5.58	0.84498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	P	0.44044	0.825	P	0.47645	0.553	D	0.83658	0.0159	10	0.59425	D	0.04	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	324	Q9HAK2	COE2_HUMAN	E	324;176;55	ENSP00000430241:Q324E;ENSP00000386178:Q176E;ENSP00000437909:Q55E	ENSP00000386178:Q176E	Q	-	1	0	EBF2	25800227	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.641000	0.89580	0.563000	0.77884	CAG		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2		NM_022659	
EPPK1	83481	hgsc.bcm.edu	37	8	144940723	144940725	+	In_Frame_Del	DEL	GGC	GGC	-	rs535733157|rs201442886		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:144940723_144940725delGGC	ENST00000525985.1	-	2	6768_6770	c.6697_6699delGCC	c.(6697-6699)gccdel	p.A2233del				P58107	EPIPL_HUMAN	epiplakin 1	2233						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGGTCCTTGGCGGGCACCAGG	0.695																																																	0										0,4148		0,0,2074						-1.4	0.0			67	18,8064		0,18,4023	no	coding	EPPK1	NM_031308.1		0,18,6097	A1A1,A1R,RR		0.2227,0.0,0.1472				18,12212				SO:0001651	inframe_deletion	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6697_6699delGCC	8.37:g.144940723_144940725delGGC	ENSP00000436337:p.Ala2233del		Q76E58|Q9NSU9	In_Frame_Del	DEL	ENST00000525985.1	37																																																																																					0.695	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308	
ETNK1	55500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	22812052	22812052	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:22812052T>A	ENST00000266517.4	+	3	877	c.788T>A	c.(787-789)aTt>aAt	p.I263N		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	263					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.I263N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTCTCTCATTCCCACAGGA	0.343																																					Esophageal Squamous(42;87 913 3224 6226 43339)												1	Substitution - Missense(1)	kidney(1)											82.0	79.0	80.0					12																	22812052		2203	4300	6503	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.788T>A	12.37:g.22812052T>A	ENSP00000266517:p.Ile263Asn		G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.518187|4.518187	0.85495|0.85495	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409	.|T	.|0.59083	.|0.29	5.23|5.23	5.23|5.23	0.72850|0.72850	.|Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	.|0.056341	.|0.64402	.|D	.|0.000001	T|T	0.70657|0.70657	0.3249|0.3249	L|L	0.58510|0.58510	1.815|1.815	0.80722|0.80722	D|D	1|1	.|D;P	.|0.63046	.|0.992;0.953	.|D;P	.|0.67900	.|0.954;0.863	T|T	0.73059|0.73059	-0.4102|-0.4102	5|10	.|0.59425	.|D	.|0.04	-14.5496|-14.5496	13.6824|13.6824	0.62493|0.62493	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|263;263	.|E9PD44;Q9HBU6	.|.;EKI1_HUMAN	I|N	254;143|263	.|ENSP00000266517:I263N	.|ENSP00000266517:I263N	F|I	+|+	1|2	0|0	ETNK1|ETNK1	22703319|22703319	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.312000|7.312000	0.78968|0.78968	1.987000|1.987000	0.57996|0.57996	0.397000|0.397000	0.26171|0.26171	TTC|ATT		0.343	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2		NM_018638	
PCED1B	91523	broad.mit.edu;hgsc.bcm.edu	37	12	47629733	47629733	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:47629733C>A	ENST00000546455.1	+	4	1618	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.S296Y			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	296	Pro-rich.						hydrolase activity (GO:0016787)	p.S296Y(1)									cccttaccttcccccacatac	0.637																																																	1	Substitution - Missense(1)	kidney(1)											25.0	28.0	27.0					12																	47629733		2203	4299	6502	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.887C>A	12.37:g.47629733C>A	ENSP00000446688:p.Ser296Tyr		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606346	0.28623	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T	0.31769	1.48;1.48	4.38	-0.977	0.10282	.	5.542930	0.00397	N	0.000050	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.32283	0.362	B	0.28139	0.086	T	0.08371	-1.0725	10	0.27082	T	0.32	.	4.1104	0.10057	0.0:0.3484:0.3361:0.3156	.	296	Q96HM7	F113B_HUMAN	Y	296;296;176;176	ENSP00000446688:S296Y;ENSP00000396040:S296Y	ENSP00000328560:S176Y	S	+	2	0	FAM113B	45916000	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.305000	0.08188	-0.174000	0.10743	0.655000	0.94253	TCC		0.637	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1		NM_138371	
FAM114A1	92689	hgsc.bcm.edu;ucsc.edu	37	4	38924467	38924467	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:38924467T>C	ENST00000358869.2	+	9	1198	c.1022T>C	c.(1021-1023)aTc>aCc	p.I341T	FAM114A1_ENST00000515037.1_Missense_Mutation_p.I134T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	341						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ATTAAAGACATCTTTGCAGCC	0.338																																																	0													94.0	94.0	94.0					4																	38924467		2203	4300	6503	SO:0001583	missense	92689				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1022T>C	4.37:g.38924467T>C	ENSP00000351740:p.Ile341Thr		A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547782	0.65311	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.25250	1.81;2.75	5.8	5.8	0.92144	.	0.044592	0.85682	D	0.000000	T	0.33118	0.0852	L	0.53729	1.69	0.58432	D	0.999999	P	0.48089	0.905	P	0.47528	0.549	T	0.02758	-1.1114	10	0.25106	T	0.35	-17.22	16.1464	0.81575	0.0:0.0:0.0:1.0	.	341	Q8IWE2	NXP20_HUMAN	T	134;341;134	ENSP00000424115:I134T;ENSP00000351740:I341T	ENSP00000347569:I134T	I	+	2	0	FAM114A1	38600862	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.739000	0.55075	2.220000	0.72140	0.383000	0.25322	ATC		0.338	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1		NM_138389	
FAM166B	730112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35563218	35563218	+	Silent	SNP	T	T	G	rs535237280		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:35563218T>G	ENST00000399742.2	-	2	301	c.231A>C	c.(229-231)ctA>ctC	p.L77L	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	77								p.L77L(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						GCCTGACAGGTAGACTCTCCC	0.607																																																	2	Substitution - coding silent(2)	kidney(2)											134.0	138.0	137.0					9																	35563218		2092	4218	6310	SO:0001819	synonymous_variant	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.231A>C	9.37:g.35563218T>G			A1L3B2|B7ZBJ0	Silent	SNP	ENST00000399742.2	37	CCDS56572.1																																																																																				0.607	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1		NM_001099951	
FAM166B	730112	broad.mit.edu;ucsc.edu	37	9	35563221	35563221	+	Silent	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:35563221A>G	ENST00000399742.2	-	2	298	c.228T>C	c.(226-228)agT>agC	p.S76S	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	76								p.S76S(2)		kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGACAGGTAGACTCTCCCTGG	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											133.0	138.0	136.0					9																	35563221		2086	4215	6301	SO:0001819	synonymous_variant	730112			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.228T>C	9.37:g.35563221A>G			A1L3B2|B7ZBJ0	Silent	SNP	ENST00000399742.2	37	CCDS56572.1																																																																																				0.612	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336563.1		NM_001099951	
FAM171B	165215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	187615886	187615886	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:187615886T>C	ENST00000304698.5	+	5	953	c.750T>C	c.(748-750)ccT>ccC	p.P250P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	250						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.P250P(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATTGACTCCTCTTGCTGCAA	0.308																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	117.0	113.0					2																	187615886		2203	4300	6503	SO:0001819	synonymous_variant	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.750T>C	2.37:g.187615886T>C			Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																				0.308	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454	
FAM69C	125704	hgsc.bcm.edu;ucsc.edu	37	18	72109246	72109246	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:72109246delA	ENST00000343998.6	-	3	990	c.982delT	c.(982-984)tcafs	p.S328fs	FAM69C_ENST00000400291.2_Frame_Shift_Del_p.S29fs	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	328						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						TCACATCTTGAAAAACAGTCA	0.478																																																	0													107.0	111.0	110.0					18																	72109246		1947	4138	6085	SO:0001589	frameshift_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.982delT	18.37:g.72109246delA	ENSP00000344331:p.Ser328fs			Frame_Shift_Del	DEL	ENST00000343998.6	37	CCDS42445.2																																																																																				0.478	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2		XM_058931	
FAT2	2196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150901058	150901058	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:150901058A>T	ENST00000261800.5	-	18	11108	c.11096T>A	c.(11095-11097)cTa>cAa	p.L3699Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3699					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3699Q(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGATGCTAGCTCCTGAAA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											73.0	71.0	72.0					5																	150901058		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11096T>A	5.37:g.150901058A>T	ENSP00000261800:p.Leu3699Gln		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633397	0.47049	.	.	ENSG00000086570	ENST00000261800	T	0.50548	0.74	5.66	4.47	0.54385	.	0.000000	0.48286	D	0.000196	T	0.66597	0.2805	M	0.73962	2.25	0.31746	N	0.635207	D;D	0.89917	1.0;0.998	D;D	0.71184	0.972;0.915	T	0.74399	-0.3678	10	0.87932	D	0	.	12.773	0.57432	0.8629:0.1371:0.0:0.0	.	3699;890	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	Q	3699	ENSP00000261800:L3699Q	ENSP00000261800:L3699Q	L	-	2	0	FAT2	150881251	0.925000	0.31364	0.697000	0.30258	0.609000	0.37215	4.972000	0.63756	0.940000	0.37473	0.459000	0.35465	CTA		0.582	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447	
GABPA	2551	broad.mit.edu	37	21	27141472	27141472	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr21:27141472C>A	ENST00000354828.3	+	10	1821	c.1294C>A	c.(1294-1296)Cat>Aat	p.H432N	GABPA_ENST00000400075.3_Missense_Mutation_p.H432N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	432					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.H432N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GATGCAGCTCCATGGAATTGC	0.473																																																	1	Substitution - Missense(1)	kidney(1)											35.0	39.0	38.0					21																	27141472		2203	4294	6497	SO:0001583	missense	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1294C>A	21.37:g.27141472C>A	ENSP00000346886:p.His432Asn		Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046103	0.55110	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.11712	2.75;2.75	5.61	5.61	0.85477	.	0.302405	0.35772	N	0.002984	T	0.09423	0.0232	N	0.24115	0.695	0.80722	D	1	P	0.34662	0.462	B	0.27887	0.084	T	0.12553	-1.0543	10	0.62326	D	0.03	.	19.2097	0.93748	0.0:1.0:0.0:0.0	.	432	Q06546	GABPA_HUMAN	N	432	ENSP00000346886:H432N;ENSP00000382948:H432N	ENSP00000346886:H432N	H	+	1	0	GABPA	26063343	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.393000	0.79851	2.649000	0.89929	0.585000	0.79938	CAT		0.473	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1		NM_002040	
GOT1	2805	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	101163595	101163595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:101163595G>A	ENST00000370508.5	-	6	706	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.Q206*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	227					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.Q227E(1)|p.Q227*(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	GCGAAGCCCTGATAGGCTGAG	0.542																																					Melanoma(173;770 3544 21601)												2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|kidney(1)											63.0	67.0	66.0					10																	101163595		2203	4300	6503	SO:0001587	stop_gained	2805			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.679C>T	10.37:g.101163595G>A	ENSP00000359539:p.Gln227*		B2R6R7|B7Z7E9|Q5VW80	Nonsense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	G	40	8.035063	0.98621	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	.	.	.	5.6	5.6	0.85130	.	0.117523	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5058	19.6558	0.95837	0.0:0.0:1.0:0.0	.	.	.	.	X	227;180;206	.	ENSP00000359539:Q227X	Q	-	1	0	GOT1	101153585	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.647000	0.89833	0.558000	0.71614	CAG		0.542	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1		NM_002079	
GPR111	222611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	47650019	47650019	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:47650019C>T	ENST00000296862.1	+	6	1724	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	GPR111_ENST00000398742.2_Missense_Mutation_p.A507V|GPR111_ENST00000507065.1_Missense_Mutation_p.A507V			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	575					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A507V(1)|p.A575V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTGGCCATTGCTGCCATCACT	0.517																																																	2	Substitution - Missense(2)	kidney(2)											70.0	71.0	71.0					6																	47650019		2076	4213	6289	SO:0001583	missense	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1724C>T	6.37:g.47650019C>T	ENSP00000296862:p.Ala575Val		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37		.	.	.	.	.	.	.	.	.	.	C	19.47	3.833453	0.71258	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.29142	1.58;1.58;1.58	5.52	5.52	0.82312	GPCR, family 2-like (1);	0.096990	0.45361	D	0.000370	T	0.28632	0.0709	N	0.25992	0.78	0.46416	D	0.999035	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.02567	-1.1140	10	0.09338	T	0.73	.	18.4157	0.90568	0.0:1.0:0.0:0.0	.	507;575	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	V	507;575;507	ENSP00000422934:A507V;ENSP00000296862:A575V;ENSP00000381727:A507V	ENSP00000296862:A575V	A	+	2	0	GPR111	47757978	1.000000	0.71417	0.960000	0.40013	0.239000	0.25481	6.042000	0.70996	2.592000	0.87571	0.655000	0.94253	GCT		0.517	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2		NM_153839	
GPR171	29909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	150916820	150916820	+	Silent	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:150916820G>A	ENST00000309180.5	-	3	584	c.354C>T	c.(352-354)caC>caT	p.H118H	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	118					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H118H(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTGCAGCTGTGTGTCAGCT	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	70.0	70.0					3																	150916820		2203	4300	6503	SO:0001819	synonymous_variant	29909			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.354C>T	3.37:g.150916820G>A			D3DNJ4|Q8IV06	Silent	SNP	ENST00000309180.5	37	CCDS3155.1																																																																																				0.408	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1		NM_013308	
GTF3C2	2976	hgsc.bcm.edu;ucsc.edu	37	2	27550049	27550049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:27550049delG	ENST00000359541.2	-	18	2941	c.2512delC	c.(2512-2514)catfs	p.H838fs	GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.H838fs|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	838					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTACCTTATGAATAGCCTCC	0.527																																																	0													68.0	57.0	61.0					2																	27550049		2203	4300	6503	SO:0001589	frameshift_variant	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2512delC	2.37:g.27550049delG	ENSP00000352536:p.His838fs		D6W557|Q16632|Q9BWI7	Frame_Shift_Del	DEL	ENST00000359541.2	37	CCDS1749.1																																																																																				0.527	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			
HERC1	8925	broad.mit.edu	37	15	63944712	63944712	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:63944712T>G	ENST00000443617.2	-	52	10406	c.10319A>C	c.(10318-10320)aAa>aCa	p.K3440T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3440					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K3440T(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAAAAGACCTTTTTTATTACA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											93.0	86.0	89.0					15																	63944712		1889	4114	6003	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10319A>C	15.37:g.63944712T>G	ENSP00000390158:p.Lys3440Thr		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.929608	0.92389	.	.	ENSG00000103657	ENST00000443617	T	0.60040	0.22	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	N	0.17564	0.495	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68135	-0.5489	10	0.56958	D	0.05	.	16.4622	0.84064	0.0:0.0:0.0:1.0	.	3440	Q15751	HERC1_HUMAN	T	3440	ENSP00000390158:K3440T	ENSP00000390158:K3440T	K	-	2	0	HERC1	61731765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.884000	0.87274	2.289000	0.77006	0.533000	0.62120	AAA		0.348	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922	
HERPUD1	9709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56974151	56974151	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:56974151T>C	ENST00000439977.2	+	6	1096	c.899T>C	c.(898-900)aTg>aCg	p.M300T	RP11-325K4.2_ENST00000570210.1_RNA|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.M299T|HERPUD1_ENST00000379792.2_Missense_Mutation_p.M275T|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.M300T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ACCGTTGTTATGTACCTGTAA	0.398			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""		E	1	Substitution - Missense(1)	kidney(1)											128.0	122.0	124.0					16																	56974151		2198	4300	6498	SO:0001583	missense	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.899T>C	16.37:g.56974151T>C	ENSP00000409555:p.Met300Thr		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248855	0.80024	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.19938	2.11	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;P	0.79784	0.982;0.993;0.878	T	0.46062	-0.9218	10	0.72032	D	0.01	-10.7537	15.2162	0.73267	0.0:0.0:0.0:1.0	.	275;299;300	E9PGD1;Q15011-2;Q15011	.;.;HERP1_HUMAN	T	299;275;300	ENSP00000369118:M275T	ENSP00000300302:M300T	M	+	2	0	HERPUD1	55531652	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	7.793000	0.85851	2.186000	0.69663	0.533000	0.62120	ATG		0.398	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			
HGF	3082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	81346622	81346622	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:81346622T>G	ENST00000222390.5	-	11	1557	c.1331A>C	c.(1330-1332)gAt>gCt	p.D444A	HGF_ENST00000457544.2_Missense_Mutation_p.D439A	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	444	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.D444A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGCATCATCATCTGGATTTCG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											261.0	196.0	218.0					7																	81346622		2203	4300	6503	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1331A>C	7.37:g.81346622T>G	ENSP00000222390:p.Asp444Ala		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285563	0.80803	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.73363	-0.74;-0.74	6.02	6.02	0.97574	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88224	0.6379	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90055	0.4152	10	0.87932	D	0	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	439;444	P14210-3;P14210	.;HGF_HUMAN	A	444;439	ENSP00000222390:D444A;ENSP00000391238:D439A	ENSP00000222390:D444A	D	-	2	0	HGF	81184558	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	6.904000	0.75708	2.299000	0.77371	0.528000	0.53228	GAT		0.448	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2		NM_000601	
IFNA21	3452	broad.mit.edu	37	9	21166125	21166125	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:21166125C>A	ENST00000380225.1	-	1	534	c.487G>T	c.(487-489)Gcc>Tcc	p.A163S		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	163					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.A163S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACCTCCCAGGCACAAGGGCTG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											212.0	213.0	213.0					9																	21166125		2203	4298	6501	SO:0001583	missense	3452				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.487G>T	9.37:g.21166125C>A	ENSP00000369574:p.Ala163Ser		Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	20.4	3.990299	0.74589	.	.	ENSG00000137080	ENST00000380225	T	0.17528	2.27	4.02	4.02	0.46733	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.126331	0.52532	D	0.000075	T	0.54127	0.1839	M	0.93638	3.44	0.33547	D	0.595677	B	0.31125	0.309	P	0.58928	0.848	T	0.69323	-0.5175	10	0.72032	D	0.01	.	13.2705	0.60157	0.0:1.0:0.0:0.0	.	163	P01568	IFN21_HUMAN	S	163	ENSP00000369574:A163S	ENSP00000369574:A163S	A	-	1	0	IFNA21	21156125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.876000	0.39588	2.080000	0.62538	0.644000	0.83932	GCC		0.413	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1		NM_002175	
IFNAR1	3454	broad.mit.edu;hgsc.bcm.edu	37	21	34721421	34721421	+	Silent	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr21:34721421A>T	ENST00000270139.3	+	7	965	c.813A>T	c.(811-813)ggA>ggT	p.G271G	IFNAR1_ENST00000442357.2_Silent_p.G271G|IFNAR1_ENST00000416947.2_Silent_p.G202G	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	271	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)	p.G271G(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	GGAATCCTGGAAACCATTTGT	0.313																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												1	Substitution - coding silent(1)	kidney(1)											67.0	73.0	71.0					21																	34721421		2203	4300	6503	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.813A>T	21.37:g.34721421A>T			B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				0.313	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			
IL15	3600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	142651079	142651079	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:142651079T>G	ENST00000296545.7	+	7	1164	c.320T>G	c.(319-321)aTt>aGt	p.I107S	IL15_ENST00000394159.1_Missense_Mutation_p.I80S|IL15_ENST00000320650.4_Missense_Mutation_p.I107S|IL15_ENST00000529613.1_Missense_Mutation_p.I107S|IL15_ENST00000514653.1_Missense_Mutation_p.I80S|IL15_ENST00000477265.1_Missense_Mutation_p.I80S			P40933	IL15_HUMAN	interleukin 15	107					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.I107S(1)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GATGCAAGTATTCATGATACA	0.358																																					Pancreas(10;184 986 25902)												1	Substitution - Missense(1)	kidney(1)											116.0	115.0	115.0					4																	142651079		2203	4299	6502	SO:0001583	missense	3600			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.320T>G	4.37:g.142651079T>G	ENSP00000296545:p.Ile107Ser		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	ENST00000296545.7	37	CCDS3755.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003818	0.54254	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.5	5.5	0.81552	.	0.485509	0.20410	N	0.092876	T	0.55768	0.1941	M	0.75447	2.3	0.09310	N	1	P	0.42757	0.789	P	0.46362	0.514	T	0.57118	-0.7866	9	0.59425	D	0.04	-3.7769	12.2854	0.54789	0.0:0.0:0.0:1.0	.	107	P40933	IL15_HUMAN	S	107;107;80;107;80;80	.	ENSP00000296545:I107S	I	+	2	0	IL15	142870529	0.045000	0.20229	0.004000	0.12327	0.001000	0.01503	3.595000	0.54016	2.224000	0.72417	0.533000	0.62120	ATT		0.358	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257278.2		NM_172175	
INO80	54617	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	41364204	41364204	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:41364204G>T	ENST00000361937.3	-	12	1872	c.1448C>A	c.(1447-1449)gCa>gAa	p.A483E	INO80_ENST00000401393.3_Missense_Mutation_p.A483E			Q9ULG1	INO80_HUMAN	INO80 complex subunit	483	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A483E(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTTGTTTGCTGCCCGTAGGGC	0.418																																																	2	Substitution - Missense(2)	kidney(2)											73.0	81.0	78.0					15																	41364204		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1448C>A	15.37:g.41364204G>T	ENSP00000355205:p.Ala483Glu		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	7.160	0.585418	0.13749	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90788	-2.73;-2.73	4.94	4.94	0.65067	.	0.057614	0.64402	D	0.000001	T	0.78547	0.4300	N	0.24115	0.695	0.53688	D	0.999979	P	0.35155	0.487	B	0.30646	0.118	T	0.76002	-0.3118	10	0.02654	T	1	.	9.173	0.37093	0.1591:0.0:0.8409:0.0	.	483	Q9ULG1	INO80_HUMAN	E	483	ENSP00000355205:A483E;ENSP00000384686:A483E	ENSP00000355205:A483E	A	-	2	0	INO80	39151496	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.757000	0.55212	2.593000	0.87608	0.650000	0.86243	GCA		0.418	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553	
KCNAB1	7881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	156249255	156249255	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:156249255A>T	ENST00000490337.1	+	13	1203	c.1139A>T	c.(1138-1140)gAa>gTa	p.E380V	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.E369V|KCNAB1_ENST00000389636.5_Missense_Mutation_p.E351V|KCNAB1_ENST00000389634.5_Missense_Mutation_p.E333V|KCNAB1_ENST00000302490.8_Missense_Mutation_p.E362V	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	380					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.E362V(1)|p.E380V(1)|p.E369V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACTCCTGAACAACTCATT	0.502																																																	3	Substitution - Missense(3)	kidney(3)											234.0	199.0	211.0					3																	156249255		2203	4300	6503	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1139A>T	3.37:g.156249255A>T	ENSP00000419952:p.Glu380Val		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	a	15.79	2.938221	0.52972	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.96	4.96	0.65561	NADP-dependent oxidoreductase domain (3);	0.127419	0.56097	D	0.000028	T	0.58250	0.2109	M	0.84433	2.695	0.58432	D	0.999995	B;B;B;B;B	0.32893	0.389;0.086;0.018;0.034;0.042	B;B;B;B;B	0.38921	0.285;0.192;0.124;0.069;0.113	T	0.64202	-0.6463	10	0.56958	D	0.05	-4.4342	14.6307	0.68653	1.0:0.0:0.0:0.0	.	351;333;362;369;380	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	V	380;351;369;362;333	ENSP00000419952:E380V;ENSP00000374287:E351V;ENSP00000418956:E369V;ENSP00000305858:E362V;ENSP00000374285:E333V	ENSP00000305858:E362V	E	+	2	0	KCNAB1	157731949	0.968000	0.33430	0.679000	0.29978	0.880000	0.50808	2.574000	0.46016	1.843000	0.53566	0.375000	0.23000	GAA		0.502	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1		NM_003471	
KCND2	3751	broad.mit.edu;ucsc.edu	37	7	119914961	119914961	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:119914961T>C	ENST00000331113.4	+	1	1240	c.275T>C	c.(274-276)tTc>tCc	p.F92S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	92					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.F92S(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCAGACATCTTCCGCCACATC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											136.0	139.0	138.0					7																	119914961		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.275T>C	7.37:g.119914961T>C	ENSP00000333496:p.Phe92Ser		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.340712	0.81911	.	.	ENSG00000184408	ENST00000331113	T	0.76448	-1.02	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.94278	0.8162	H	0.99881	4.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97127	0.9815	9	.	.	.	.	15.9958	0.80243	0.0:0.0:0.0:1.0	.	92	Q9NZV8	KCND2_HUMAN	S	92	ENSP00000333496:F92S	.	F	+	2	0	KCND2	119702197	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	TTC		0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1		NM_012281	
KIAA0226	9711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197410178	197410178	+	Splice_Site	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:197410178C>T	ENST00000296343.5	-	13	1979	c.1980G>A	c.(1978-1980)aaG>aaA	p.K660K	KIAA0226_ENST00000389665.5_Splice_Site_p.K685K|KIAA0226_ENST00000273582.5_Splice_Site_p.K615K	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	660					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.K615K(1)|p.K660K(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		AAGGACCTACCTTCTGAGGGG	0.592																																					Esophageal Squamous(3;167 355 3763 15924)												2	Substitution - coding silent(2)	kidney(2)											63.0	67.0	65.0					3																	197410178		1987	4155	6142	SO:0001630	splice_region_variant	9711			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1980+1G>A	3.37:g.197410178C>T			Q96CK5	Silent	SNP	ENST00000296343.5	37	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.312604|1.312604	0.23908|0.23908	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|.	.|.	.|.	.|.	T|T	0.69151|0.69151	0.3079|0.3079	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.67333|0.67333	-0.5697|-0.5697	4|4	.|.	.|.	.|.	.|.	13.5933|13.5933	0.61971|0.61971	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|.	.|.	.|.	T|N	622|444	.|.	.|.	A|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198894575|198894575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.218000|0.218000	0.24690|0.24690	6.051000|6.051000	0.71072|0.71072	2.585000|2.585000	0.87301|0.87301	0.591000|0.591000	0.81541|0.81541	GCT|AGC		0.592	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1		XM_032901	Silent
LCTL	197021	broad.mit.edu	37	15	66853375	66853375	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:66853375C>A	ENST00000341509.5	-	6	805	c.674G>T	c.(673-675)gGc>gTc	p.G225V	LCTL_ENST00000563438.1_5'Flank|LCTL_ENST00000537670.1_Missense_Mutation_p.G52V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	225					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G225V(3)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTGTACAGGCCGGTGCCGCG	0.602																																																	3	Substitution - Missense(3)	prostate(2)|kidney(1)											64.0	61.0	62.0					15																	66853375		2201	4299	6500	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.674G>T	15.37:g.66853375C>A	ENSP00000343490:p.Gly225Val		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960240	0.74016	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.52754	0.65;1.49	5.38	5.38	0.77491	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62969	-0.6741	10	0.44086	T	0.13	-35.5197	18.487	0.90833	0.0:1.0:0.0:0.0	.	225	Q6UWM7	LCTL_HUMAN	V	52;225	ENSP00000445419:G52V;ENSP00000343490:G225V	ENSP00000343490:G225V	G	-	2	0	LCTL	64640429	0.998000	0.40836	0.991000	0.47740	0.630000	0.37929	5.425000	0.66470	2.689000	0.91719	0.655000	0.94253	GGC		0.602	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2		NM_207338	
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																																	0																																												644669																															18.37:g.15323276A>T				RNA	SNP	ENST00000455308.2	37																																																																																					0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57589705	57589705	+	Missense_Mutation	SNP	C	C	A	rs148336699		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:57589705C>A	ENST00000243077.3	+	54	9086	c.8620C>A	c.(8620-8622)Cgc>Agc	p.R2874S	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2874	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R2874S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTGAGCTCCCGCCAGTGGGA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											57.0	62.0	60.0					12																	57589705		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8620C>A	12.37:g.57589705C>A	ENSP00000243077:p.Arg2874Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	8.887	0.953000	0.18431	.	.	ENSG00000123384	ENST00000243077	D	0.89552	-2.53	5.22	5.22	0.72569	.	0.478162	0.18922	N	0.127444	T	0.70727	0.3257	N	0.02011	-0.69	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.67461	-0.5665	10	0.10111	T	0.7	.	11.3138	0.49379	0.2932:0.7068:0.0:0.0	.	2874	Q07954	LRP1_HUMAN	S	2874	ENSP00000243077:R2874S	ENSP00000243077:R2874S	R	+	1	0	LRP1	55875972	0.911000	0.30947	1.000000	0.80357	0.955000	0.61496	1.802000	0.38853	2.434000	0.82447	0.561000	0.74099	CGC		0.652	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332	
LTF	4057	hgsc.bcm.edu	37	3	46501284	46501285	+	In_Frame_Ins	INS	-	-	CTT	rs67658416|rs55665884|rs76787706|rs10662431	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:46501284_46501285insCTT	ENST00000231751.4	-	2	363_364	c.68_69insAAG	c.(67-69)agg>agAAGg	p.23_23R>RR	LTF_ENST00000417439.1_In_Frame_Ins_p.23_23R>RR|LTF_ENST00000426532.2_5'UTR	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	23	Bactericidal and antifungal activity.|Critical for glycosaminoglycan, lipid A, lysozyme and DNA binding.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ACTGAACACTCCTCCTACGGCC	0.559														4960	0.990415	0.9977	0.9798	5008	,	,		18251	1.0		0.9732	False		,,,				2504	0.9959																0									,	4237,29		2104,29,0					,	-3.9	0.0		dbSNP_119	72	8027,227		3902,223,2	no	coding,utr-5	LTF	NM_002343.3,NM_001199149.1	,	6006,252,2	A1A1,A1R,RR		2.7502,0.6798,2.0447	,	,		12264,256				SO:0001652	inframe_insertion	4057				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.68_69insAAG	3.37:g.46501284_46501285insCTT	ENSP00000231751:p.Arg23dup		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	In_Frame_Ins	INS	ENST00000231751.4	37	CCDS33747.1																																																																																				0.559	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2		NM_002343	
MAP2K3	5606	hgsc.bcm.edu	37	17	21207813	21207813	+	Missense_Mutation	SNP	T	T	G	rs74575904	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:21207813T>G	ENST00000342679.4	+	8	893	c.644T>G	c.(643-645)tTg>tGg	p.L215W	MAP2K3_ENST00000361818.5_Missense_Mutation_p.L186W|MAP2K3_ENST00000316920.6_Missense_Mutation_p.L186W	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> V (in colon cancer). {ECO:0000269|PubMed:11414763}.		activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGTGGCTACTTGGTGGACTCT	0.597																																																	0													276.0	193.0	221.0					17																	21207813		2203	4300	6503	SO:0001583	missense	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.644T>G	17.37:g.21207813T>G	ENSP00000345083:p.Leu215Trp		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629605	0.87660	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.48201	0.82;0.82	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000058	T	0.76863	0.4047	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84230	0.0466	10	0.87932	D	0	-23.6514	14.7002	0.69150	0.0:0.0:0.0:1.0	.	215	P46734	MP2K3_HUMAN	W	215;186;186;219	ENSP00000345083:L215W;ENSP00000355081:L186W	ENSP00000319139:L219W	L	+	2	0	MAP2K3	21148406	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.898000	0.87363	1.877000	0.54381	0.460000	0.39030	TTG		0.597	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		NM_145109	
MSLNL	401827	hgsc.bcm.edu	37	16	830748	830767	+	Intron	DEL	GTGTGCACGGGTAGGTGACG	GTGTGCACGGGTAGGTGACG	-	rs529120069|rs530021128|rs561671812|rs200325458|rs550446343|rs370853100	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GTGTGCACGGGTAGGTGACG	GTGTGCACGGGTAGGTGACG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:830748_830767delGTGTGCACGGGTAGGTGACG	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Frame_Shift_Del_p.VTYPCTQ79fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGACAGCTGTGTGCACGGGTAGGTGACGGTGTGCACGG	0.591																																																	0																																										SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-586CGTCACCTACCCGTGCACAC>-	16.37:g.830748_830767delGTGTGCACGGGTAGGTGACG				Frame_Shift_Del	DEL	ENST00000442466.1	37																																																																																					0.591	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001025190	
MTOR	2475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11217303	11217303	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:11217303C>G	ENST00000361445.4	-	30	4451	c.4375G>C	c.(4375-4377)Gcc>Ccc	p.A1459P		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1459	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.A1459P(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCCACAAGGGCATCCTCCCAC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											163.0	132.0	143.0					1																	11217303		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4375G>C	1.37:g.11217303C>G	ENSP00000354558:p.Ala1459Pro		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684303	0.88639	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.68331	-0.32	5.69	4.79	0.61399	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	M	0.92268	3.29	0.80722	D	1	P	0.45348	0.856	B	0.40444	0.329	T	0.82104	-0.0622	10	0.87932	D	0	.	14.6201	0.68579	0.0:0.93:0.0:0.07	.	1459	P42345	MTOR_HUMAN	P	1459	ENSP00000354558:A1459P	ENSP00000354558:A1459P	A	-	1	0	MTOR	11139890	1.000000	0.71417	0.827000	0.32855	0.934000	0.57294	7.414000	0.80117	1.405000	0.46838	0.655000	0.94253	GCC		0.542	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MYOM2	9172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	2020501	2020501	+	Silent	SNP	G	G	A	rs137913055		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:2020501G>A	ENST00000262113.4	+	9	1011	c.870G>A	c.(868-870)agG>agA	p.R290R	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	290	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R290R(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTTCAGGAGGGAAGGCGAGA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	72.0	77.0					8																	2020501		2203	4300	6503	SO:0001819	synonymous_variant	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.870G>A	8.37:g.2020501G>A			Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	CCDS5957.1																																																																																				0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1		NM_003970	
MYOM3	127294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24434560	24434560	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:24434560T>C	ENST00000374434.3	-	3	327	c.165A>G	c.(163-165)gaA>gaG	p.E55E	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.E56E|MYOM3_ENST00000329601.7_Silent_p.E55E	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	55						M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.E55E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATGCTCTTCTTCGCTGCTCC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	48.0	46.0					1																	24434560		2025	4159	6184	SO:0001819	synonymous_variant	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.165A>G	1.37:g.24434560T>C			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	CCDS41281.1																																																																																				0.627	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372	
NCAPD3	23310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	134029917	134029917	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:134029917T>C	ENST00000534548.2	-	29	3801	c.3737A>G	c.(3736-3738)aAa>aGa	p.K1246R		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1246					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.K1246R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TGCCAGCTGTTTGTCAACTGC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											139.0	123.0	128.0					11																	134029917		2201	4297	6498	SO:0001583	missense	23310			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3737A>G	11.37:g.134029917T>C	ENSP00000433681:p.Lys1246Arg		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933139	0.34096	.	.	ENSG00000151503	ENST00000534548;ENST00000527944	T	0.25085	1.82	5.36	2.98	0.34508	Armadillo-type fold (1);	0.143011	0.64402	N	0.000006	T	0.14917	0.0360	L	0.28115	0.83	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.13407	0.004;0.009	T	0.09037	-1.0693	10	0.09084	T	0.74	-17.4543	9.9481	0.41623	0.0:0.1399:0.0:0.8601	.	1246;306	P42695;Q96FA6	CNDD3_HUMAN;.	R	1246;151	ENSP00000433681:K1246R	ENSP00000432532:K151R	K	-	2	0	NCAPD3	133535127	1.000000	0.71417	0.981000	0.43875	0.949000	0.60115	3.500000	0.53318	0.396000	0.25283	0.533000	0.62120	AAA		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2		NM_015261	
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29684022	29684022	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:29684022A>G	ENST00000358273.4	+	53	8166	c.7783A>G	c.(7783-7785)Aaa>Gaa	p.K2595E	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Missense_Mutation_p.K388E|NF1_ENST00000356175.3_Missense_Mutation_p.K2574E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATTTACGTAAAGTTTCAGT	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)|Deletion - Frameshift(1)	soft_tissue(8)|kidney(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											198.0	188.0	191.0					17																	29684022		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7783A>G	17.37:g.29684022A>G	ENSP00000351015:p.Lys2595Glu		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748440	0.89753	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.51071	3.13;3.26;2.96;0.72	5.87	5.87	0.94306	Armadillo-type fold (1);	0.104881	0.64402	D	0.000004	T	0.60650	0.2285	L	0.47716	1.5	0.80722	D	1	D;D;P	0.64830	0.994;0.974;0.956	D;D;D	0.70487	0.934;0.969;0.931	T	0.53599	-0.8416	10	0.20519	T	0.43	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	388;2574;2595	B4DXH1;P21359-2;P21359	.;.;NF1_HUMAN	E	2595;2574;2240;388	ENSP00000351015:K2595E;ENSP00000348498:K2574E;ENSP00000389907:K2240E;ENSP00000396481:K388E	ENSP00000348498:K2574E	K	+	1	0	NF1	26708148	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.398000	0.90195	2.371000	0.80710	0.533000	0.62120	AAA		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267	
NOS1	4842	broad.mit.edu;ucsc.edu	37	12	117665305	117665305	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:117665305T>G	ENST00000338101.4	-	23	3653	c.3649A>C	c.(3649-3651)Agc>Cgc	p.S1217R	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.S1183R			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.S1183R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGGGAGGAGCTGATGGAATAG	0.617																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	kidney(1)											74.0	87.0	83.0					12																	117665305		2101	4230	6331	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3649A>C	12.37:g.117665305T>G	ENSP00000337459:p.Ser1217Arg			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878918	0.91740	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.52526	0.66;0.66	4.95	4.95	0.65309	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85677	0.1298	10	0.87932	D	0	-40.9531	14.77	0.69668	0.0:0.0:0.0:1.0	.	1183	P29475	NOS1_HUMAN	R	1078;1183;1183;1217	ENSP00000320758:S1183R;ENSP00000337459:S1217R	ENSP00000320758:S1183R	S	-	1	0	NOS1	116149688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.812000	0.86109	2.067000	0.61834	0.482000	0.46254	AGC		0.617	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120458462	120458463	+	Frame_Shift_Ins	INS	-	-	TATA			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:120458462_120458463insTATA	ENST00000256646.2	-	34	7101_7102	c.6882_6883insTATA	c.(6880-6885)ataaccfs	p.T2295fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2295					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGGGGTGGTTATGTGCTTCC	0.599			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0																																										SO:0001589	frameshift_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6882_6883insTATA	1.37:g.120458462_120458463insTATA	ENSP00000256646:p.Thr2295fs		Q5T3X7|Q99734|Q9H240	Frame_Shift_Ins	INS	ENST00000256646.2	37	CCDS908.1																																																																																				0.599	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408	
NPAS4	266743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66191067	66191067	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:66191067T>G	ENST00000311034.2	+	6	1003	c.827T>G	c.(826-828)aTt>aGt	p.I276S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	276					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.I276S(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGTGGAGATATTCAGGCAGAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											89.0	79.0	82.0					11																	66191067		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.827T>G	11.37:g.66191067T>G	ENSP00000311196:p.Ile276Ser		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	4.781	0.145248	0.09134	.	.	ENSG00000174576	ENST00000311034	T	0.17370	2.28	5.0	3.85	0.44370	PAS fold-3 (1);	0.237105	0.30185	N	0.010201	T	0.05227	0.0139	N	0.03608	-0.345	0.35760	D	0.820099	B	0.14012	0.009	B	0.16289	0.015	T	0.28713	-1.0035	10	0.07030	T	0.85	-8.0585	4.1186	0.10094	0.0:0.1092:0.2135:0.6773	.	276	Q8IUM7	NPAS4_HUMAN	S	276	ENSP00000311196:I276S	ENSP00000311196:I276S	I	+	2	0	NPAS4	65947643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.228000	0.32588	2.084000	0.62774	0.533000	0.62120	ATT		0.532	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864	
NSUN6	221078	hgsc.bcm.edu;ucsc.edu	37	10	18874976	18874977	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:18874976_18874977insT	ENST00000377304.4	-	8	1241_1242	c.823_824insA	c.(823-825)atcfs	p.I275fs		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	275							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTCTGTTTGATTTTTTCTACT	0.342																																																	0																																										SO:0001589	frameshift_variant	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.824dupA	10.37:g.18874982_18874982dupT	ENSP00000366519:p.Ile275fs		B0YJ54	Frame_Shift_Ins	INS	ENST00000377304.4	37	CCDS7130.1																																																																																				0.342	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1		NM_182543	
NUDT4	11163	broad.mit.edu;hgsc.bcm.edu	37	12	93793101	93793101	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:93793101T>C	ENST00000415493.2	+	5	916	c.489T>C	c.(487-489)aaT>aaC	p.N163N	NUDT4_ENST00000549992.1_Silent_p.N111N|NUDT4_ENST00000337179.5_Silent_p.N164N|NUDT4_ENST00000548662.1_Silent_p.N111N|NUDT4_ENST00000547014.1_Silent_p.N112N	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	163					calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.N164N(1)		endometrium(2)|kidney(1)|lung(2)	5						CGGATAATAATGCCTTGTTTG	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											189.0	192.0	191.0					12																	93793101		2203	4300	6503	SO:0001819	synonymous_variant	11163			AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.489T>C	12.37:g.93793101T>C			B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Silent	SNP	ENST00000415493.2	37	CCDS44952.1																																																																																				0.488	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1		NM_019094	
TENM1	10178	hgsc.bcm.edu;ucsc.edu	37	X	124097394	124097394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:124097394delG	ENST00000371130.3	-	1	272	c.209delC	c.(208-210)tctfs	p.S70fs	TENM1_ENST00000422452.2_Frame_Shift_Del_p.S70fs	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	70	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACCTTGAGTAGATTTTTCTAC	0.338																																																	0													166.0	155.0	159.0					X																	124097394		2203	4300	6503	SO:0001589	frameshift_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.209delC	X.37:g.124097394delG	ENSP00000360171:p.Ser70fs		B2RTR5|Q5JZ17	Frame_Shift_Del	DEL	ENST00000371130.3	37	CCDS14609.1																																																																																				0.338	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	
OR8B12	219858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124413531	124413531	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:124413531G>A	ENST00000306842.2	-	1	44	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S7F(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CTCTGTCACAGAAGAGTTTTT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											25.0	29.0	28.0					11																	124413531		2176	4271	6447	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.20C>T	11.37:g.124413531G>A	ENSP00000307159:p.Ser7Phe		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203648	0.06180	.	.	ENSG00000170953	ENST00000306842	T	0.54675	0.56	3.89	2.98	0.34508	.	0.000000	0.56097	D	0.000037	T	0.44540	0.1298	L	0.50919	1.6	0.09310	N	1	B	0.17852	0.024	B	0.21151	0.033	T	0.36335	-0.9752	10	0.36615	T	0.2	.	10.3136	0.43723	0.096:0.0:0.904:0.0	.	7	Q8NGG6	OR8BC_HUMAN	F	7	ENSP00000307159:S7F	ENSP00000307159:S7F	S	-	2	0	OR8B12	123918741	0.000000	0.05858	0.029000	0.17559	0.078000	0.17371	0.155000	0.16362	1.222000	0.43521	0.650000	0.86243	TCT		0.517	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			
OTX1	5013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	63283120	63283120	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:63283120G>A	ENST00000282549.2	+	5	1010	c.734G>A	c.(733-735)gGc>gAc	p.G245D	OTX1_ENST00000366671.3_Missense_Mutation_p.G245D	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	245					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G245D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TACTTTGGCGGCGTGGACTGC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											89.0	84.0	86.0					2																	63283120		2203	4300	6503	SO:0001583	missense	5013				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.734G>A	2.37:g.63283120G>A	ENSP00000282549:p.Gly245Asp		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	ENST00000282549.2	37	CCDS1873.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059285	0.76074	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.89746	-2.56;-2.56	3.61	3.61	0.41365	Transcription factor Otx, C-terminal (1);	0.276456	0.34725	N	0.003737	D	0.94437	0.8210	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95253	0.8361	10	0.72032	D	0.01	.	14.5134	0.67804	0.0:0.0:1.0:0.0	.	245	P32242	OTX1_HUMAN	D	245	ENSP00000355631:G245D;ENSP00000282549:G245D	ENSP00000282549:G245D	G	+	2	0	OTX1	63136624	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.500000	0.97977	2.008000	0.58898	0.462000	0.41574	GGC		0.657	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			
OTX2	5015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	57271023	57271023	+	Silent	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:57271023C>A	ENST00000555006.1	-	3	540	c.132G>T	c.(130-132)acG>acT	p.T44T	OTX2_ENST00000339475.5_Silent_p.T52T|OTX2_ENST00000408990.3_Silent_p.T44T|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	44					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T52T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCCGAGTGAACGTCGTCCTCT	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	53.0	55.0					14																	57271023		2203	4300	6503	SO:0001819	synonymous_variant	5015			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.132G>T	14.37:g.57271023C>A			B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	ENST00000555006.1	37	CCDS41960.1																																																																																				0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1		NM_021728.	
P2RY6	5031	broad.mit.edu	37	11	73008033	73008033	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:73008033C>A	ENST00000393590.2	+	2	769	c.470C>A	c.(469-471)aCc>aAc	p.T157N	P2RY6_ENST00000542092.1_Missense_Mutation_p.T157N|P2RY6_ENST00000538328.1_Missense_Mutation_p.T157N|P2RY6_ENST00000540342.1_Missense_Mutation_p.T157N|P2RY6_ENST00000393591.1_Missense_Mutation_p.T157N|P2RY6_ENST00000540124.1_Missense_Mutation_p.T157N|P2RY6_ENST00000349767.2_Missense_Mutation_p.T157N|P2RY6_ENST00000393592.2_Missense_Mutation_p.T157N	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	157					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)	p.T157N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCGTGACAACCCAGTGCCTG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											47.0	41.0	43.0					11																	73008033		2199	4291	6490	SO:0001583	missense	5031				CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.470C>A	11.37:g.73008033C>A	ENSP00000377215:p.Thr157Asn		Q15754	Missense_Mutation	SNP	ENST00000393590.2	37	CCDS8220.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332491	0.24167	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	4.42	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.632176	0.16121	N	0.228648	T	0.28134	0.0694	L	0.39245	1.2	0.23174	N	0.998176	B	0.24768	0.111	B	0.23150	0.044	T	0.17592	-1.0364	10	0.48119	T	0.1	.	8.3679	0.32397	0.0:0.8206:0.0:0.1794	.	157	Q15077	P2RY6_HUMAN	N	157	ENSP00000443427:T157N;ENSP00000445652:T157N;ENSP00000309771:T157N;ENSP00000377217:T157N;ENSP00000377216:T157N;ENSP00000442551:T157N;ENSP00000377215:T157N;ENSP00000440770:T157N;ENSP00000442990:T157N	ENSP00000309771:T157N	T	+	2	0	P2RY6	72685681	0.990000	0.36364	0.761000	0.31378	0.522000	0.34438	3.233000	0.51311	1.197000	0.43143	0.491000	0.48974	ACC		0.667	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397349.1			
PCDHGA8	9708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140773214	140773214	+	Silent	SNP	A	A	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:140773214A>G	ENST00000398604.2	+	1	834	c.834A>G	c.(832-834)gcA>gcG	p.A278A	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A278A(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGTGGCATACAAATTCC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	75.0	74.0					5																	140773214		1847	4096	5943	SO:0001819	synonymous_variant	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.834A>G	5.37:g.140773214A>G			A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	CCDS47291.1																																																																																				0.423	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088	
PER3	8863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	7886603	7886603	+	Nonsense_Mutation	SNP	C	C	A	rs370974877		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:7886603C>A	ENST00000361923.2	+	16	2172	c.1997C>A	c.(1996-1998)tCg>tAg	p.S666*	PER3_ENST00000377532.3_Nonsense_Mutation_p.S674*|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	666	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S666*(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTGACCTCGGAAGAATTT	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											60.0	57.0	58.0					1																	7886603		2203	4300	6503	SO:0001587	stop_gained	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1997C>A	1.37:g.7886603C>A	ENSP00000355031:p.Ser666*		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	38	7.131528	0.98085	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	.	.	.	4.62	1.67	0.24075	.	0.651072	0.14467	N	0.317835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.246	0.26121	0.0:0.7031:0.1398:0.1571	.	.	.	.	X	674;666	.	ENSP00000355031:S666X	S	+	2	0	PER3	7809190	0.051000	0.20477	0.001000	0.08648	0.001000	0.01503	2.437000	0.44828	0.178000	0.19917	-0.878000	0.02970	TCG		0.483	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1		NM_016831	
PCNXL2	80003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	233296143	233296143	+	Missense_Mutation	SNP	C	C	A	rs548517254		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:233296143C>A	ENST00000258229.9	-	19	3637	c.3403G>T	c.(3403-3405)Gcc>Tcc	p.A1135S	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A268S|PCNXL2_ENST00000520463.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1135						integral component of membrane (GO:0016021)		p.A1135S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AACCCCACGGCTCCAGCCAAG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											74.0	73.0	73.0					1																	233296143		1955	4159	6114	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3403G>T	1.37:g.233296143C>A	ENSP00000258229:p.Ala1135Ser		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422335	0.25639	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.08370	3.1	4.72	-9.44	0.00603	.	.	.	.	.	T	0.04998	0.0134	L	0.28115	0.83	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.38564	-0.9655	9	0.42905	T	0.14	.	9.461	0.38785	0.1656:0.0919:0.0:0.7425	.	1135	A6NKB5	PCX2_HUMAN	S	1135;268	ENSP00000258229:A1135S	ENSP00000258229:A1135S	A	-	1	0	PCNXL2	231362766	0.025000	0.19082	0.000000	0.03702	0.417000	0.31264	0.407000	0.21049	-2.226000	0.00723	-1.105000	0.02106	GCC		0.493	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801	
PEX2	5828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77896064	77896064	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:77896064T>A	ENST00000419564.2	-	4	815	c.351A>T	c.(349-351)gaA>gaT	p.E117D	PEX2_ENST00000522527.1_Missense_Mutation_p.E117D|PEX2_ENST00000520103.1_Missense_Mutation_p.E117D|PEX2_ENST00000357039.4_Missense_Mutation_p.E117D	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	117					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)	p.E117D(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						AGCATCGTTCTTCTAACCACC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											78.0	73.0	75.0					8																	77896064		2203	4300	6503	SO:0001583	missense	5828			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.351A>T	8.37:g.77896064T>A	ENSP00000400984:p.Glu117Asp		Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141302	0.57044	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.19	1.53	0.23141	Pex, N-terminal (1);	0.202182	0.48286	D	0.000195	T	0.78253	0.4254	L	0.48362	1.52	0.43255	D	0.995188	P	0.47545	0.897	P	0.45946	0.498	T	0.73129	-0.4080	10	0.42905	T	0.14	-20.8953	9.3725	0.38264	0.0:0.3599:0.0:0.6401	.	117	P28328	PEX2_HUMAN	D	117	ENSP00000349543:E117D;ENSP00000400984:E117D;ENSP00000428590:E117D;ENSP00000428638:E117D;ENSP00000429304:E117D	ENSP00000349543:E117D	E	-	3	2	PEX2	78058619	0.939000	0.31865	0.989000	0.46669	0.971000	0.66376	-0.001000	0.12947	0.121000	0.18284	0.456000	0.33151	GAA		0.378	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1		NM_000318	
PLA2G4F	255189	broad.mit.edu	37	15	42439928	42439928	+	Silent	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:42439928A>C	ENST00000382396.4	-	12	1178	c.1092T>G	c.(1090-1092)ggT>ggG	p.G364G	PLA2G4F_ENST00000397272.3_Silent_p.G366G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	364	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.G364G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCGGGTTCCACCCCCGGAAC	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	55.0	54.0					15																	42439928		2203	4299	6502	SO:0001819	synonymous_variant	255189				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1092T>G	15.37:g.42439928A>C			Q6ZMC8	Silent	SNP	ENST00000382396.4	37	CCDS32204.1																																																																																				0.547	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1		NM_213600	
PM20D2	135293	hgsc.bcm.edu	37	6	89855893	89855893	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:89855893A>C	ENST00000275072.4	+	1	125	c.30A>C	c.(28-30)gaA>gaC	p.E10D		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	10						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GGCCCGTGGAAGGGGGCGCGT	0.756																																																	0													6.0	7.0	7.0					6																	89855893		1893	3883	5776	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.30A>C	6.37:g.89855893A>C	ENSP00000275072:p.Glu10Asp		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	a	12.23	1.875984	0.33162	.	.	ENSG00000146281	ENST00000275072	T	0.44083	0.93	4.43	-5.07	0.02938	.	1.073720	0.07330	N	0.879103	T	0.08670	0.0215	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.25572	-1.0128	10	0.31617	T	0.26	0.0893	3.4267	0.07413	0.2791:0.3895:0.2383:0.0931	.	10	Q8IYS1	P20D2_HUMAN	D	10	ENSP00000275072:E10D	ENSP00000275072:E10D	E	+	3	2	PM20D2	89912612	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.054000	0.11826	-1.012000	0.03387	-0.433000	0.05886	GAA		0.756	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1		NM_001010853	
PPP1R13B	23368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	104208276	104208276	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:104208276G>A	ENST00000202556.9	-	11	1955	c.1673C>T	c.(1672-1674)gCt>gTt	p.A558V	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	558	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A558V(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCCTTTATCAGCCAGGAAAGG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											135.0	143.0	141.0					14																	104208276		1974	4155	6129	SO:0001583	missense	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1673C>T	14.37:g.104208276G>A	ENSP00000202556:p.Ala558Val		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073227	0.94000	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.50548	0.74	5.77	5.77	0.91146	.	0.093078	0.85682	D	0.000000	T	0.65616	0.2708	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.62740	0.906	T	0.65405	-0.6176	10	0.62326	D	0.03	.	19.982	0.97329	0.0:0.0:1.0:0.0	.	558	Q96KQ4	ASPP1_HUMAN	V	558;425	ENSP00000202556:A558V	ENSP00000202556:A558V	A	-	2	0	PPP1R13B	103278029	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.476000	0.97823	2.737000	0.93849	0.561000	0.74099	GCT		0.567	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1		NM_015316	
PPP1R3D	5509	broad.mit.edu;hgsc.bcm.edu	37	20	58514505	58514505	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr20:58514505G>A	ENST00000370996.3	-	1	847	c.482C>T	c.(481-483)cCg>cTg	p.P161L	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	161					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.P161L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTCGACGGGCGGCGGGAAATC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											14.0	17.0	16.0					20																	58514505		2158	4227	6385	SO:0001583	missense	5509			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.482C>T	20.37:g.58514505G>A	ENSP00000360035:p.Pro161Leu		Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685314	0.68157	.	.	ENSG00000132825	ENST00000370996	T	0.55052	0.54	5.05	4.03	0.46877	.	0.088646	0.44902	D	0.000406	T	0.33469	0.0864	L	0.46157	1.445	0.58432	D	0.999995	P	0.49961	0.93	B	0.27076	0.076	T	0.20874	-1.0262	10	0.21014	T	0.42	-26.1352	10.3538	0.43952	0.0:0.0:0.548:0.452	.	161	O95685	PPR3D_HUMAN	L	161	ENSP00000360035:P161L	ENSP00000360035:P161L	P	-	2	0	PPP1R3D	57947900	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	3.473000	0.53122	2.338000	0.79540	0.462000	0.41574	CCG		0.677	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2		NM_006242	
PRAMEF20	645425	broad.mit.edu	37	1	13743046	13743046	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:13743046C>A	ENST00000602960.1	+	1	239	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	PRAMEF20_ENST00000316412.5_Missense_Mutation_p.Q79K			Q5VT98	PRA20_HUMAN	PRAME family member 20	79					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.Q79K(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGACCTTCCAAGCTGTGCT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											62.0	63.0	63.0					1																	13743046		2190	4268	6458	SO:0001583	missense	645425				CCDS41265.1	1p36.21	2014-07-15			ENSG00000204478	ENSG00000204478		"""-"""	25224	protein-coding gene	gene with protein product			"""PRAME family member 21"""	PRAMEF21			Standard	NM_001099852		Approved	OTTHUMG00000007911, OTTHUMT00000008157	uc009vnv.1	Q5VT98	OTTHUMG00000007911	ENST00000602960.1:c.235C>A	1.37:g.13743046C>A	ENSP00000473584:p.Gln79Lys			Missense_Mutation	SNP	ENST00000602960.1	37	CCDS41265.1	.	.	.	.	.	.	.	.	.	.	.	3.017	-0.202719	0.06219	.	.	ENSG00000204478	ENST00000316412	T	0.05855	3.38	1.51	0.431	0.16523	.	0.635784	0.15112	N	0.279913	T	0.03305	0.0096	N	0.20328	0.56	0.09310	N	1	.	.	.	.	.	.	T	0.46484	-0.9188	8	0.11182	T	0.66	.	4.6931	0.12790	0.4325:0.5675:0.0:0.0	.	.	.	.	K	79	ENSP00000346275:Q79K	ENSP00000346275:Q79K	Q	+	1	0	PRAMEF20	13615633	0.000000	0.05858	0.001000	0.08648	0.209000	0.24338	-0.603000	0.05674	0.148000	0.19059	0.306000	0.20318	CAA		0.612	PRAMEF20-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021782.1		NM_001099852	
PRDM2	7799	hgsc.bcm.edu;ucsc.edu	37	1	14108935	14108935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:14108935delT	ENST00000235372.7	+	8	5501	c.4645delT	c.(4645-4647)tcafs	p.S1550fs	PRDM2_ENST00000311066.5_Frame_Shift_Del_p.S1550fs|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.S1349fs|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.S1349fs|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACTTCCCTCCTCATCCTTCAG	0.537																																																	0													63.0	68.0	66.0					1																	14108935		2203	4300	6503	SO:0001589	frameshift_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4645delT	1.37:g.14108935delT	ENSP00000235372:p.Ser1550fs		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Frame_Shift_Del	DEL	ENST00000235372.7	37	CCDS150.1																																																																																				0.537	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231	
PRMT5	10419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23393369	23393369	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:23393369T>A	ENST00000324366.8	-	12	1446	c.1223A>T	c.(1222-1224)gAa>gTa	p.E408V	PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.E391V|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E302V|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.E347V|PRMT5_ENST00000553897.1_Missense_Mutation_p.E364V|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000397440.4_Missense_Mutation_p.E237V|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	408	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.E391V(1)|p.E408V(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCTTCCCCATTCTTCAAACTG	0.468																																																	2	Substitution - Missense(2)	kidney(2)											86.0	78.0	80.0					14																	23393369		2203	4300	6503	SO:0001583	missense	10419			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1223A>T	14.37:g.23393369T>A	ENSP00000319169:p.Glu408Val		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404896	0.42613	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.58583	1.82	0.80722	D	1	B;B;B;P;B	0.41232	0.371;0.146;0.274;0.743;0.242	B;B;B;B;B	0.34242	0.099;0.105;0.115;0.178;0.159	T	0.03148	-1.1067	10	0.30854	T	0.27	-13.0785	14.467	0.67490	0.0:0.0:0.0:1.0	.	364;347;237;408;391	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	V	408;391;237;347;7;302;364	ENSP00000319169:E408V;ENSP00000380583:E391V;ENSP00000380582:E237V;ENSP00000216350:E347V;ENSP00000451245:E7V;ENSP00000444915:E302V;ENSP00000452555:E364V	ENSP00000216350:E347V	E	-	2	0	PRMT5	22463209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.304000	0.78882	2.250000	0.74265	0.454000	0.30748	GAA		0.468	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3			
RAB43	339122	broad.mit.edu;hgsc.bcm.edu	37	3	128813982	128813982	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:128813982G>A	ENST00000315150.5	-	2	535	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB43_ENST00000393307.1_Missense_Mutation_p.R79W|RAB43_ENST00000476465.1_Missense_Mutation_p.R79W|RAB43_ENST00000393304.1_Missense_Mutation_p.R79W|RAB43_ENST00000393305.1_Missense_Mutation_p.R79W|ISY1-RAB43_ENST00000418265.1_Silent_p.S294S|RAB43_ENST00000393308.1_Missense_Mutation_p.R79W	NM_001204888.1|NM_198490.2	NP_001191817.1|NP_940892.1	Q86YS6	RAB43_HUMAN	RAB43, member RAS oncogene family	79					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R79W(1)		kidney(2)|liver(1)|lung(2)|skin(1)	6						GTGCGGAACCGCTCCTGGCCG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											57.0	56.0	56.0					3																	128813982		2203	4300	6503	SO:0001583	missense	339122			AY166852	CCDS33850.1, CCDS56275.1	3q21.3	2010-03-30			ENSG00000172780	ENSG00000172780		"""RAB, member RAS oncogene"""	19983	protein-coding gene	gene with protein product						15018353	Standard	NM_198490		Approved	RAB41, RAB11B, ISY1	uc021xdp.1	Q86YS6	OTTHUMG00000137364	ENST00000315150.5:c.235C>T	3.37:g.128813982G>A	ENSP00000319781:p.Arg79Trp		A8K4P9|E9PBQ0	Missense_Mutation	SNP	ENST00000315150.5	37	CCDS33850.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770795	0.49680	.	.	ENSG00000172780	ENST00000315150;ENST00000393304;ENST00000393308;ENST00000393307;ENST00000393305;ENST00000476465;ENST00000457077	T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	4.55	2.71	0.32032	Small GTP-binding protein domain (1);	.	.	.	.	T	0.74023	0.3662	.	.	.	0.80722	D	1	P;B	0.49635	0.926;0.213	P;B	0.46825	0.528;0.04	T	0.70927	-0.4739	8	0.66056	D	0.02	.	5.55	0.17086	0.0952:0.0:0.5583:0.3464	.	79;79	E9PBQ0;Q86YS6	.;RAB43_HUMAN	W	79	ENSP00000319781:R79W;ENSP00000376981:R79W;ENSP00000376985:R79W;ENSP00000376984:R79W;ENSP00000376982:R79W;ENSP00000427632:R79W;ENSP00000390782:R79W	ENSP00000319781:R79W	R	-	1	2	RAB43	130296672	0.995000	0.38212	0.922000	0.36590	0.963000	0.63663	0.545000	0.23268	0.340000	0.23745	0.467000	0.42956	CGG		0.592	RAB43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267849.1		XM_290714	
RALGAPA1	253959	hgsc.bcm.edu	37	14	36096435	36096436	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr14:36096435_36096436insT	ENST00000389698.3	-	33	5589_5590	c.5199_5200insA	c.(5197-5202)aaagaafs	p.E1734fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.E1747fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.E1734fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.E1781fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1734	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAACAAATTCTTTTTCTTCTG	0.332																																																	0																																										SO:0001589	frameshift_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5200dupA	14.37:g.36096440_36096440dupT	ENSP00000374348:p.Glu1734fs		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Ins	INS	ENST00000389698.3	37	CCDS32065.1																																																																																				0.332	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	
RASGEF1B	153020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	82380577	82380577	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:82380577C>T	ENST00000264400.2	-	2	237	c.86G>A	c.(85-87)gGa>gAa	p.G29E	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.G29E|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.G29E|RASGEF1B_ENST00000436139.2_Missense_Mutation_p.G29E|RASGEF1B_ENST00000514889.1_5'Flank	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	29					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.G29E(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATACAACCCTCCACAGCTGTC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											100.0	95.0	97.0					4																	82380577		2203	4300	6503	SO:0001583	missense	153020			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.86G>A	4.37:g.82380577C>T	ENSP00000264400:p.Gly29Glu		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594575	0.46214	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000436139;ENST00000395570	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.26	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);	0.465275	0.23325	N	0.049420	T	0.08891	0.0220	N	0.04636	-0.2	0.32583	N	0.528216	B;B;B;B	0.20368	0.001;0.044;0.001;0.0	B;B;B;B	0.19666	0.007;0.026;0.004;0.002	T	0.27191	-1.0081	10	0.02654	T	1	.	6.8234	0.23870	0.0:0.6896:0.1736:0.1368	.	29;29;29;29	Q0VAM2-2;Q8N437;Q0VAM2-3;Q0VAM2	.;.;.;RGF1B_HUMAN	E	29	ENSP00000425393:G29E;ENSP00000264400:G29E;ENSP00000338437:G29E;ENSP00000398763:G29E	ENSP00000264400:G29E	G	-	2	0	RASGEF1B	82599601	0.709000	0.27886	1.000000	0.80357	0.986000	0.74619	0.913000	0.28611	2.742000	0.94016	0.591000	0.81541	GGA		0.453	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1		NM_152545	
RNF103	7844	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86831681	86831681	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:86831681T>A	ENST00000237455.4	-	4	2311	c.1343A>T	c.(1342-1344)aAt>aTt	p.N448I	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	448					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N448I(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTTATTGGCATTGACTTCATC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											125.0	124.0	125.0					2																	86831681		2203	4300	6503	SO:0001583	missense	7844			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1343A>T	2.37:g.86831681T>A	ENSP00000237455:p.Asn448Ile		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722675	0.48728	.	.	ENSG00000239305	ENST00000237455	T	0.46451	0.87	5.59	5.59	0.84812	.	0.044753	0.85682	D	0.000000	T	0.61476	0.2350	L	0.60455	1.87	0.54753	D	0.999988	D	0.76494	0.999	D	0.80764	0.994	T	0.64002	-0.6509	10	0.66056	D	0.02	-16.2147	15.7662	0.78128	0.0:0.0:0.0:1.0	.	448	O00237	RN103_HUMAN	I	448	ENSP00000237455:N448I	ENSP00000237455:N448I	N	-	2	0	RNF103	86685192	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.609000	0.54117	2.133000	0.65898	0.377000	0.23210	AAT		0.418	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2		NM_005667	
RNF10	9921	broad.mit.edu;ucsc.edu	37	12	121013684	121013684	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:121013684T>C	ENST00000325954.4	+	16	2751	c.2290T>C	c.(2290-2292)Tcc>Ccc	p.S764P	RNF10_ENST00000413266.2_Missense_Mutation_p.S769P|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	764					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S764P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTCAAAATTCCTTCAGCCA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											184.0	187.0	186.0					12																	121013684		2203	4300	6503	SO:0001583	missense	9921			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2290T>C	12.37:g.121013684T>C	ENSP00000322242:p.Ser764Pro		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.025905	0.93518	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.90788	-2.73;-2.73	5.63	5.63	0.86233	.	0.056017	0.64402	D	0.000001	D	0.94604	0.8261	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.95051	0.8187	10	0.72032	D	0.01	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	769;764	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	P	764;764;769;99	ENSP00000322242:S764P;ENSP00000415682:S769P	ENSP00000322242:S764P	S	+	1	0	RNF10	119498067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.145000	0.66743	0.533000	0.62120	TCC		0.507	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			
RNF169	254225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74546695	74546695	+	Silent	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:74546695A>T	ENST00000299563.4	+	6	1060	c.1047A>T	c.(1045-1047)ctA>ctT	p.L349L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	349					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.L349L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AAAAGCGTCTACCCTTCAGCT	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	130.0	129.0					11																	74546695		2026	4184	6210	SO:0001819	synonymous_variant	254225			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1047A>T	11.37:g.74546695A>T			Q6N015	Silent	SNP	ENST00000299563.4	37	CCDS41691.1																																																																																				0.512	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886	
RRP9	9136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51971260	51971260	+	Silent	SNP	G	G	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:51971260G>T	ENST00000232888.6	-	6	538	c.465C>A	c.(463-465)acC>acA	p.T155T		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	155					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.T155T(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		AGTCATCGGGGGTGACGACCA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	127.0	128.0					3																	51971260		2203	4300	6503	SO:0001819	synonymous_variant	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.465C>A	3.37:g.51971260G>T			B2R996|Q8IZ30	Silent	SNP	ENST00000232888.6	37	CCDS2837.1																																																																																				0.602	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346637.1		NM_004704	
SCARB2	950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	77082897	77082897	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr4:77082897G>A	ENST00000264896.2	-	12	1755	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	SCARB2_ENST00000452464.2_Missense_Mutation_p.A326V	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	469					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.A469V(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TCTTTCATCCGCTGTTCCCTG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											165.0	145.0	152.0					4																	77082897		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1406C>T	4.37:g.77082897G>A	ENSP00000264896:p.Ala469Val		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469845	0.43839	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;D	0.90563	-0.33;-2.69	5.23	5.23	0.72850	.	0.485690	0.22422	N	0.060261	T	0.82006	0.4943	N	0.24115	0.695	0.30186	N	0.799991	B;B	0.33135	0.399;0.074	B;B	0.16289	0.015;0.006	T	0.79047	-0.1963	10	0.33940	T	0.23	.	14.6832	0.69033	0.0:0.0:1.0:0.0	.	326;469	E7EM68;Q14108	.;SCRB2_HUMAN	V	469;326	ENSP00000264896:A469V;ENSP00000399154:A326V	ENSP00000264896:A469V	A	-	2	0	SCARB2	77301921	0.386000	0.25180	0.987000	0.45799	0.820000	0.46376	2.158000	0.42329	2.596000	0.87737	0.655000	0.94253	GCG		0.493	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1		NM_005506	
SEC16A	9919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139360547	139360547	+	Nonsense_Mutation	SNP	G	G	T	rs375846646	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:139360547G>T	ENST00000371706.3	-	6	3669	c.3636C>A	c.(3634-3636)taC>taA	p.Y1212*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.Y1212*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.Y1212*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.Y1390*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1212	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.Y1390*(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCGGGGCCTCGTAGGAACCGG	0.532																																																	2	Substitution - Nonsense(2)	kidney(2)											40.0	50.0	46.0					9																	139360547		2014	4186	6200	SO:0001587	stop_gained	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3636C>A	9.37:g.139360547G>T	ENSP00000360771:p.Tyr1212*		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	G	39	7.828355	0.98513	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.52	-4.57	0.03421	.	0.189951	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1767	16.389	0.83525	0.8744:0.0:0.1256:0.0	.	.	.	.	X	1390;112;1212;1212;1212;780;314	.	ENSP00000290037:Y1212X	Y	-	3	2	SEC16A	138480368	0.929000	0.31497	0.318000	0.25279	0.435000	0.31806	-0.082000	0.11304	-1.004000	0.03421	-0.150000	0.13652	TAC		0.532	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459	
SERAC1	84947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	158541585	158541585	+	Silent	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:158541585T>C	ENST00000367104.3	-	11	1169	c.1038A>G	c.(1036-1038)gaA>gaG	p.E346E	SERAC1_ENST00000367102.2_Silent_p.E346E|SERAC1_ENST00000367101.1_Silent_p.E346E	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	346					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.E346E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATTTCATTGCTTCTGCCATGA	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	106.0	109.0					6																	158541585		2203	4300	6503	SO:0001819	synonymous_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1038A>G	6.37:g.158541585T>C			Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	CCDS5255.1																																																																																				0.448	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1		NM_032861	
SFI1	9814	hgsc.bcm.edu;ucsc.edu	37	22	31927108	31927108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr22:31927108delA	ENST00000400288.2	+	4	436	c.331delA	c.(331-333)aaafs	p.K111fs	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000432498.1_Frame_Shift_Del_p.K111fs|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000414585.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	111	Interaction with CETN2.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ATTTCCCTCTAAAGCCAGGTA	0.323																																																	0													105.0	98.0	100.0					22																	31927108		1826	4080	5906	SO:0001589	frameshift_variant	9814			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.331delA	22.37:g.31927108delA	ENSP00000383145:p.Lys111fs		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	ENST00000400288.2	37	CCDS43004.1																																																																																				0.323	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3		NM_014775	
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232650976	232650976	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr1:232650976T>A	ENST00000366630.1	-	2	468	c.110A>T	c.(109-111)aAa>aTa	p.K37I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K37I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	37					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.K37I(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCTTTAAATTTCCGAGCAAA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											71.0	70.0	71.0					1																	232650976		1871	4102	5973	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.110A>T	1.37:g.232650976T>A	ENSP00000355589:p.Lys37Ile		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806773	0.70682	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.80738	-1.41;-1.41	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	L	0.56769	1.78	0.58432	D	0.999993	D	0.69078	0.997	D	0.66847	0.947	D	0.88185	0.2873	10	0.66056	D	0.02	-35.3825	15.4025	0.74852	0.0:0.0:0.0:1.0	.	37	Q9P2F8	SI1L2_HUMAN	I	37	ENSP00000355589:K37I;ENSP00000262861:K37I	ENSP00000262861:K37I	K	-	2	0	SIPA1L2	230717599	1.000000	0.71417	0.981000	0.43875	0.839000	0.47603	7.525000	0.81892	2.232000	0.73038	0.528000	0.53228	AAA		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839	
SLC12A5	57468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44684805	44684805	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr20:44684805A>T	ENST00000454036.2	+	22	2922	c.2873A>T	c.(2872-2874)gAt>gTt	p.D958V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D935V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	958					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D935V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTATCACAGATGAGTCACGA	0.552																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											73.0	60.0	64.0					20																	44684805		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2873A>T	20.37:g.44684805A>T	ENSP00000387694:p.Asp958Val		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	8.685	0.906046	0.17760	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.87412	-2.25;-2.25	4.8	3.71	0.42584	.	0.123411	0.53938	D	0.000053	D	0.84750	0.5541	M	0.77313	2.365	0.80722	D	1	P;B	0.41313	0.745;0.08	B;B	0.35971	0.215;0.045	D	0.83879	0.0278	10	0.66056	D	0.02	.	9.6702	0.40008	0.9181:0.0:0.0819:0.0	.	958;935	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	958;935	ENSP00000387694:D958V;ENSP00000243964:D935V	ENSP00000243964:D935V	D	+	2	0	SLC12A5	44118212	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	8.761000	0.91691	0.874000	0.35823	-0.379000	0.06801	GAT		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			
SLC47A2	146802	broad.mit.edu;hgsc.bcm.edu	37	17	19582221	19582221	+	Splice_Site	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:19582221T>C	ENST00000325411.5	-	17	1639		c.e17-2		SLC47A2_ENST00000463318.1_Splice_Site|SLC47A2_ENST00000350657.5_Splice_Site	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)	p.?(2)		endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CTGTAGCCACTGCGGAAGCAA	0.547																																																	2	Unknown(2)	kidney(2)											21.0	18.0	20.0					17																	19582221		2195	4291	6486	SO:0001630	splice_region_variant	146802			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1589-2A>G	17.37:g.19582221T>C			A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Splice_Site	SNP	ENST00000325411.5	37	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	T	7.780	0.709325	0.15239	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	.	.	.	5.0	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6822	0.28520	0.3385:0.0:0.0:0.6615	.	.	.	.	.	-1	.	.	.	-	.	.	SLC47A2	19522813	1.000000	0.71417	0.958000	0.39756	0.026000	0.11368	2.114000	0.41911	0.705000	0.31890	0.460000	0.39030	.		0.547	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2		NM_152908	Intron
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101631681	101631681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:101631681G>A	ENST00000310954.6	-	1	572	c.286C>T	c.(286-288)Caa>Taa	p.Q96*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.Q96*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGAGACATTGAGGATGGAAG	0.592																																																	1	Substitution - Nonsense(1)	kidney(1)											75.0	75.0	75.0					5																	101631681		2203	4300	6503	SO:0001587	stop_gained	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.286C>T	5.37:g.101631681G>A	ENSP00000309741:p.Gln96*			Nonsense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594267	0.86953	.	.	ENSG00000173930	ENST00000310954	.	.	.	4.32	1.55	0.23275	.	2.100700	0.02746	N	0.116906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7205	0.02911	0.1124:0.3296:0.2848:0.2732	.	.	.	.	X	96	.	ENSP00000309741:Q96X	Q	-	1	0	SLCO4C1	101659580	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.008000	0.13197	0.097000	0.17492	0.591000	0.81541	CAA		0.592	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991	
SLTM	79811	hgsc.bcm.edu;ucsc.edu	37	15	59205785	59205786	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr15:59205785_59205786delTA	ENST00000380516.2	-	4	512_513	c.425_426delTA	c.(424-426)ttafs	p.L143fs	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	143	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCAGAGAGTAACTCCTTGGA	0.381																																																	0																																										SO:0001589	frameshift_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.425_426delTA	15.37:g.59205785_59205786delTA	ENSP00000369887:p.Leu143fs		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	CCDS10168.2																																																																																				0.381	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1		NM_024755	
SMAD2	4087	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	45395769	45395769	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:45395769C>A	ENST00000402690.2	-	4	759	c.365G>T	c.(364-366)gGa>gTa	p.G122V	SMAD2_ENST00000591214.1_Missense_Mutation_p.G92V|SMAD2_ENST00000356825.4_Missense_Mutation_p.G92V|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Missense_Mutation_p.G92V|SMAD2_ENST00000262160.6_Missense_Mutation_p.G122V	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	122	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.G122V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ATGTGGCAATCCTTTTCGATG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											87.0	79.0	82.0					18																	45395769		2203	4300	6503	SO:0001583	missense	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.365G>T	18.37:g.45395769C>A	ENSP00000384449:p.Gly122Val			Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987783	0.74589	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.71934	-0.61;-0.61;-0.61	5.17	5.17	0.71159	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.79070	0.4384	L	0.48174	1.505	0.80722	D	1	P;P;P	0.50156	0.932;0.902;0.635	P;P;P	0.59546	0.859;0.549;0.612	T	0.80162	-0.1497	10	0.62326	D	0.03	.	19.0248	0.92929	0.0:1.0:0.0:0.0	.	92;92;122	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	V	122;92;122	ENSP00000262160:G122V;ENSP00000349282:G92V;ENSP00000384449:G122V	ENSP00000262160:G122V	G	-	2	0	SMAD2	43649767	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.776000	0.85560	2.566000	0.86566	0.591000	0.81541	GGA		0.403	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1		NM_005901	
SOCS6	9306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	67992983	67992983	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:67992983C>T	ENST00000397942.3	+	2	1395	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	SOCS6_ENST00000582322.1_Missense_Mutation_p.S360L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	360					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.S360L(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GTTTATGACTCAGTGCAAAGT	0.493																																					Melanoma(84;1024 1361 24382 36583 42651)												1	Substitution - Missense(1)	kidney(1)											82.0	79.0	80.0					18																	67992983		2203	4300	6503	SO:0001583	missense	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1079C>T	18.37:g.67992983C>T	ENSP00000381034:p.Ser360Leu		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544220	0.65198	.	.	ENSG00000170677	ENST00000397942	T	0.25085	1.82	5.34	5.34	0.76211	.	0.086330	0.48767	D	0.000173	T	0.19967	0.0480	L	0.27053	0.805	0.80722	D	1	P	0.35656	0.514	B	0.27887	0.084	T	0.03597	-1.1021	10	0.54805	T	0.06	-8.8137	19.0707	0.93134	0.0:1.0:0.0:0.0	.	360	O14544	SOCS6_HUMAN	L	360	ENSP00000381034:S360L	ENSP00000381034:S360L	S	+	2	0	SOCS6	66143963	1.000000	0.71417	0.955000	0.39395	0.978000	0.69477	7.613000	0.82986	2.507000	0.84556	0.561000	0.74099	TCA		0.493	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			
SORL1	6653	hgsc.bcm.edu	37	11	121416109	121416109	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:121416109C>A	ENST00000260197.7	+	14	2151	c.2022C>A	c.(2020-2022)aaC>aaA	p.N674K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	674					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.N674K(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCGTGTCCAACTGCTCCTGCA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											86.0	76.0	79.0					11																	121416109		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2022C>A	11.37:g.121416109C>A	ENSP00000260197:p.Asn674Lys		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884190	0.72410	.	.	ENSG00000137642	ENST00000260197	T	0.35605	1.3	5.63	2.75	0.32379	VPS10 (1);	0.099352	0.64402	D	0.000002	T	0.45736	0.1357	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.48422	-0.9037	10	0.06365	T	0.9	.	10.1272	0.42656	0.0:0.7301:0.0:0.2699	.	674	Q92673	SORL_HUMAN	K	674	ENSP00000260197:N674K	ENSP00000260197:N674K	N	+	3	2	SORL1	120921319	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.150000	0.42254	0.744000	0.32741	-0.137000	0.14449	AAC		0.522	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2		NM_003105	
SP100	6672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	231407658	231407658	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:231407658T>G	ENST00000340126.4	+	29	2686	c.2655T>G	c.(2653-2655)atT>atG	p.I885M	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.I885M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TAATGTTTATTTAGCCATTCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											75.0	70.0	71.0					2																	231407658		1870	4112	5982	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2655T>G	2.37:g.231407658T>G	ENSP00000343023:p.Ile885Met		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	6.285|6.285	0.420760|0.420760	0.11928|0.11928	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	T|.	0.60920|.	0.15|.	3.46|3.46	-6.93|-6.93	0.01638|0.01638	.|.	.|.	.|.	.|.	.|.	T|T	0.15435|0.15435	0.0372|0.0372	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.15930|.	0.003;0.015|.	B;B|.	0.14578|.	0.003;0.011|.	T|T	0.09164|0.09164	-1.0687|-1.0687	9|5	0.40728|.	T|.	0.16|.	.|.	0.573|0.573	0.00699|0.00699	0.3688:0.221:0.1159:0.2943|0.3688:0.221:0.1159:0.2943	.|.	355;885|.	E9PHN1;P23497-4|.	.;.|.	M|V	885;355|259	ENSP00000343023:I885M|.	ENSP00000343023:I885M|.	I|L	+|+	3|1	3|2	SP100|SP100	231115902|231115902	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.268000|-2.268000	0.01169|0.01169	-3.501000|-3.501000	0.00151|0.00151	-0.333000|-0.333000	0.08304|0.08304	ATT|TTA		0.413	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1		NM_003113	
SPOCK1	6695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	136328254	136328254	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:136328254G>A	ENST00000394945.1	-	7	794	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SPOCK1_ENST00000282223.7_Missense_Mutation_p.R209W	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	209					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R209W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTTCAGCCGGGAGGCAAGG	0.527																																																	2	Substitution - Missense(2)	stomach(1)|kidney(1)											126.0	117.0	120.0					5																	136328254		2203	4300	6503	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.625C>T	5.37:g.136328254G>A	ENSP00000378401:p.Arg209Trp		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608372	0.87258	.	.	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.66995	0.21;0.21;-0.24	5.89	5.89	0.94794	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.066318	0.64402	D	0.000009	D	0.84032	0.5383	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86146	0.1584	10	0.87932	D	0	.	15.6298	0.76899	0.0:0.0:0.8623:0.1377	.	209	Q08629	TICN1_HUMAN	W	209;209;64	ENSP00000378401:R209W;ENSP00000282223:R209W;ENSP00000421677:R64W	ENSP00000282223:R209W	R	-	1	2	SPOCK1	136356153	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.742000	0.68646	2.794000	0.96219	0.655000	0.94253	CGG		0.527	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1		NM_004598	
EIF4EBP3	8637	hgsc.bcm.edu	37	5	139931629	139931629	+	IGR	SNP	C	C	G	rs5871740|rs368142622|rs202193903	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:139931629C>G	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.V110L	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCCATCACAGCCTCAGAC	0.592																																																	0													82.0	59.0	67.0					5																	139931629		2202	4295	6497	SO:0001628	intergenic_variant	10011			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931629C>G				Missense_Mutation	SNP	ENST00000310331.2	37	CCDS4226.1	.	.	.	.	.	.	.	.	.	.	C	4.980	0.181983	0.09495	.	.	ENSG00000213523	ENST00000336283;ENST00000520427	T	0.40476	1.03	5.75	1.75	0.24633	.	0.938709	0.08826	N	0.888002	T	0.11196	0.0273	N	0.00560	-1.38	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	9	.	.	.	.	3.3903	0.07286	0.0902:0.3003:0.4378:0.1718	.	110	Q9HD15	SRA1_HUMAN	L	110;36	ENSP00000337513:V110L	.	V	-	1	0	SRA1	139911813	0.037000	0.19845	0.998000	0.56505	0.973000	0.67179	-0.239000	0.08965	0.800000	0.34041	-0.211000	0.12701	GTG		0.592	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2		NM_003732	
STK33	65975	hgsc.bcm.edu	37	11	8414087	8414088	+	In_Frame_Ins	INS	-	-	CCAGAA			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:8414087_8414088insCCAGAA	ENST00000447869.1	-	12	2432_2433	c.1514_1515insTTCTGG	c.(1513-1515)ggc>ggTTCTGGc	p.505_505G>GSG	STK33_ENST00000396672.1_In_Frame_Ins_p.505_505G>GSG|STK33_ENST00000534493.1_In_Frame_Ins_p.464_464G>GSG|STK33_ENST00000358872.3_In_Frame_Ins_p.318_318G>GSG|STK33_ENST00000315204.1_In_Frame_Ins_p.505_505G>GSG|STK33_ENST00000396673.1_In_Frame_Ins_p.439_439G>GSG|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	505					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGGACAGGGCGCCGGATTTAGC	0.48																																																	0										26,4238		0,26,2106						-0.2	0.0			208	143,8111		0,143,3984	no	coding	STK33	NM_030906.2		0,169,6090	A1A1,A1R,RR		1.7325,0.6098,1.3501				169,12349				SO:0001652	inframe_insertion	65975			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1514_1515insTTCTGG	11.37:g.8414087_8414088insCCAGAA	ENSP00000416750:p.SerGly505dup		Q658S6|Q8NEF5	In_Frame_Ins	INS	ENST00000447869.1	37	CCDS7789.1																																																																																				0.480	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2		NM_030906	
SYDE1	85360	hgsc.bcm.edu;ucsc.edu	37	19	15224541	15224561	+	In_Frame_Del	DEL	GGGCGGGACTTCCTGCCCTGT	GGGCGGGACTTCCTGCCCTGT	-	rs61732043|rs375316079		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	GGGCGGGACTTCCTGCCCTGT	GGGCGGGACTTCCTGCCCTGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:15224541_15224561delGGGCGGGACTTCCTGCCCTGT	ENST00000342784.2	+	8	2006_2026	c.1975_1995delGGGCGGGACTTCCTGCCCTGT	c.(1975-1995)gggcgggacttcctgccctgtdel	p.GRDFLPC659del	SYDE1_ENST00000600440.1_In_Frame_Del_p.GRDFLPC592del|SYDE1_ENST00000600252.1_In_Frame_Del_p.GRDFLPC316del	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	659					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)	p.R660L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GAGCGTTTGCGGGCGGGACTTCCTGCCCTGTGGGCGGGATT	0.706																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1975_1995delGGGCGGGACTTCCTGCCCTGT	19.37:g.15224541_15224561delGGGCGGGACTTCCTGCCCTGT	ENSP00000341489:p.Gly659_Cys665del		Q7L2I8|Q8N6J2|Q9H8K4	In_Frame_Del	DEL	ENST00000342784.2	37	CCDS12324.1																																																																																				0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1		NM_033025	
TBC1D8B	54885	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106109183	106109183	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chrX:106109183C>G	ENST00000357242.5	+	16	2756	c.2582C>G	c.(2581-2583)tCa>tGa	p.S861*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.S855*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	861	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.S861*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATAAAGACTCACTAGCTTTA	0.393																																																	1	Substitution - Nonsense(1)	kidney(1)											126.0	109.0	115.0					X																	106109183		2203	4300	6503	SO:0001587	stop_gained	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2582C>G	X.37:g.106109183C>G	ENSP00000349781:p.Ser861*		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	41	9.058757	0.99051	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	.	.	.	5.71	3.84	0.44239	.	0.551411	0.18948	N	0.126748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-0.5282	11.073	0.48014	0.0:0.7768:0.1399:0.0833	.	.	.	.	X	861;855;123	.	ENSP00000276175:S855X	S	+	2	0	TBC1D8B	105995839	0.991000	0.36638	0.973000	0.42090	0.978000	0.69477	2.901000	0.48695	1.169000	0.42739	0.594000	0.82650	TCA		0.393	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2		NM_017752	
TBL2	26608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	72985071	72985071	+	Silent	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:72985071C>A	ENST00000305632.5	-	7	1351	c.1110G>T	c.(1108-1110)cgG>cgT	p.R370R	TBL2_ENST00000432538.1_Silent_p.R334R|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	370							poly(A) RNA binding (GO:0044822)	p.R370R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCATGGACCCGCTCAAAGC	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	81.0	80.0					7																	72985071		2203	4300	6503	SO:0001819	synonymous_variant	26608			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1110G>T	7.37:g.72985071C>A			Q9UQE2	Silent	SNP	ENST00000305632.5	37	CCDS5551.1																																																																																				0.607	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3		NM_012453	
TH	7054	hgsc.bcm.edu;ucsc.edu	37	11	2185540	2185540	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr11:2185540delG	ENST00000381178.1	-	14	1528	c.1510delC	c.(1510-1512)cagfs	p.Q504fs	TH_ENST00000381175.1_Frame_Shift_Del_p.Q500fs|INS_ENST00000381330.4_5'Flank|TH_ENST00000333684.5_Frame_Shift_Del_p.Q383fs|TH_ENST00000352909.3_Frame_Shift_Del_p.Q473fs	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	504					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CGCACGGCCTGGGGGCTGTCC	0.677																																																	0													59.0	52.0	55.0					11																	2185540		2200	4297	6497	SO:0001589	frameshift_variant	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1510delC	11.37:g.2185540delG	ENSP00000370571:p.Gln504fs		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Frame_Shift_Del	DEL	ENST00000381178.1	37	CCDS7731.1																																																																																				0.677	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1		NM_000360	
TP53I13	90313	broad.mit.edu;hgsc.bcm.edu	37	17	27896080	27896080	+	Silent	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:27896080G>A	ENST00000301057.7	+	2	232	c.117G>A	c.(115-117)gaG>gaA	p.E39E	RP11-68I3.4_ENST00000579050.1_RNA|ABHD15_ENST00000307201.4_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	39						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E39E(1)		NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		ATTGTCCCGAGAGCCTGTGGC	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											11.0	15.0	13.0					17																	27896080		1987	4152	6139	SO:0001819	synonymous_variant	90313			AK075341	CCDS42289.1	17q11.2	2006-01-16				ENSG00000167543			25102	protein-coding gene	gene with protein product						14767535	Standard	NM_138349		Approved	DSCP1	uc002hee.3	Q8NBR0		ENST00000301057.7:c.117G>A	17.37:g.27896080G>A			Q7L5U3	Silent	SNP	ENST00000301057.7	37	CCDS42289.1																																																																																				0.687	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2		NM_138349	
TMEM92	162461	broad.mit.edu;hgsc.bcm.edu	37	17	48356271	48356271	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr17:48356271T>A	ENST00000300433.3	+	5	390	c.280T>A	c.(280-282)Tgc>Agc	p.C94S	RP11-893F2.9_ENST00000508851.1_RNA|TMEM92_ENST00000507382.1_Missense_Mutation_p.C94S|TMEM92_ENST00000511882.1_3'UTR	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	94	Pro-rich.					integral component of membrane (GO:0016021)		p.C94S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCCAGTGGATTGCCGGGGGCC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											64.0	75.0	71.0					17																	48356271		2203	4300	6503	SO:0001583	missense	162461				CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.280T>A	17.37:g.48356271T>A	ENSP00000300433:p.Cys94Ser		Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	T	7.562	0.664943	0.14710	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.05081	3.5;3.5	3.96	1.94	0.25998	.	2.114960	0.02256	N	0.067141	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.39961	-0.9588	10	0.17369	T	0.5	-0.9091	5.4058	0.16320	0.0:0.7285:0.0:0.2715	.	94	Q6UXU6	TMM92_HUMAN	S	94	ENSP00000300433:C94S;ENSP00000425144:C94S	ENSP00000300433:C94S	C	+	1	0	TMEM92	45711270	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.076000	0.14712	0.337000	0.23665	-0.464000	0.05259	TGC		0.607	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2		NM_153229	
TPCN1	53373	broad.mit.edu;ucsc.edu	37	12	113727990	113727990	+	Silent	SNP	C	C	A	rs150639944		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr12:113727990C>A	ENST00000335509.6	+	22	2168	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	TPCN1_ENST00000541517.1_Silent_p.T690T|TPCN1_ENST00000392569.4_Silent_p.T550T|TPCN1_ENST00000550785.1_Silent_p.T690T	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	618					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.T618T(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GCAACAGGACCGTGGTGGAGG	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	88.0	98.0					12																	113727990		2203	4300	6503	SO:0001819	synonymous_variant	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.1854C>A	12.37:g.113727990C>A			A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	CCDS31908.1																																																																																				0.562	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3		NM_017901	
TSC22D1	8848	hgsc.bcm.edu	37	13	45008837	45008838	+	Frame_Shift_Ins	INS	-	-	G	rs372349466		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr13:45008837_45008838insG	ENST00000458659.2	-	3	3636_3637	c.3146_3147insC	c.(3145-3147)cctfs	p.P1049fs	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Frame_Shift_Ins_p.P120fs|RP11-71C5.2_ENST00000426579.2_RNA	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1049					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1049P(2)|p.P120P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGTGGTGGCAGGGGGGGAGCC	0.639																																																	4	Substitution - coding silent(4)	prostate(2)|kidney(2)																																								SO:0001589	frameshift_variant	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3147dupC	13.37:g.45008844_45008844dupG	ENSP00000397435:p.Pro1049fs		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Frame_Shift_Ins	INS	ENST00000458659.2	37	CCDS31966.1																																																																																				0.639	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179613182	179613182	+	Intron	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr2:179613182delT	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Frame_Shift_Del_p.I4649fs|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCTAGGAATTTTTTCTTTA	0.363																																																	0													82.0	92.0	88.0					2																	179613182		2203	4298	6501	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4668A>-	2.37:g.179613182delT			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TULP1	7287	broad.mit.edu;hgsc.bcm.edu	37	6	35471404	35471404	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:35471404G>A	ENST00000229771.6	-	13	1334	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	TULP1_ENST00000322263.4_Missense_Mutation_p.R366W	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	419					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R419W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCATGCGCCGGGGGCCACGG	0.662																																					GBM(55;1027 1091 11115 23439)												1	Substitution - Missense(1)	kidney(1)											21.0	22.0	22.0					6																	35471404		2201	4298	6499	SO:0001583	missense	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1255C>T	6.37:g.35471404G>A	ENSP00000229771:p.Arg419Trp		O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028662	0.75390	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.98313	-4.86;-4.86	5.09	3.26	0.37387	Tubby, C-terminal (4);	0.120124	0.56097	D	0.000038	D	0.99366	0.9777	H	0.99225	4.475	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98563	1.0642	10	0.87932	D	0	-26.0536	13.8854	0.63706	0.0:0.0:0.7218:0.2782	.	366;419	O00294-2;O00294	.;TULP1_HUMAN	W	419;366	ENSP00000229771:R419W;ENSP00000319414:R366W	ENSP00000229771:R419W	R	-	1	2	TULP1	35579382	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	2.120000	0.41968	0.509000	0.28195	-0.448000	0.05591	CGG		0.662	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			
UNC13B	10497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35396577	35396577	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:35396577G>C	ENST00000378495.3	+	26	3388	c.3166G>C	c.(3166-3168)Ggg>Cgg	p.G1056R	UNC13B_ENST00000378496.4_Missense_Mutation_p.G1056R|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.G1068R	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1056	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.G1056R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGTCCTCCAGGGGCAGGTGCC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											95.0	83.0	87.0					9																	35396577		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3166G>C	9.37:g.35396577G>C	ENSP00000367756:p.Gly1056Arg		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314887	0.60524	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84516	-1.74;-1.66;-1.86	5.66	4.76	0.60689	Munc13 homology 1 (1);	0.308460	0.39909	N	0.001222	D	0.88415	0.6430	L	0.50333	1.59	0.58432	D	0.999999	D;P	0.64830	0.994;0.883	P;B	0.60682	0.878;0.381	D	0.88936	0.3376	10	0.66056	D	0.02	-20.5587	14.0282	0.64599	0.0721:0.0:0.9279:0.0	.	1056;1056	F8W8M9;O14795	.;UN13B_HUMAN	R	1068;1056;1056;643	ENSP00000380006:G1068R;ENSP00000367756:G1056R;ENSP00000367757:G1056R	ENSP00000367756:G1056R	G	+	1	0	UNC13B	35386577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.160000	0.50739	2.662000	0.90505	0.557000	0.71058	GGG		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		NM_006377	
SPACA6P-AS	102238594	broad.mit.edu	37	19	52196178	52196178	+	lincRNA	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:52196178C>T	ENST00000602324.1	-	0	531				MIR99B_ENST00000384819.1_RNA|MIR125A_ENST00000385273.1_RNA|LINC00085_ENST00000573266.1_RNA|MIRLET7E_ENST00000362102.1_RNA	NR_029482.1|NR_029693.1																						GGACCCTTAGCCCCACTGGGC	0.657																																																	0													21.0	24.0	24.0					19																	52196178		692	1591	2283			0																															19.37:g.52196178C>T				RNA	SNP	ENST00000602324.1	37																																																																																					0.657	hsa-mir-125a.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467329.1			
USP7	7874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	9010986	9010986	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:9010986C>T	ENST00000344836.4	-	7	946	c.748G>A	c.(748-750)Gat>Aat	p.D250N	USP7_ENST00000535863.1_Missense_Mutation_p.D151N|USP7_ENST00000381886.4_Missense_Mutation_p.D234N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	250	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D250N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GACGAATCATCCCCCTCGGTT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											148.0	149.0	149.0					16																	9010986		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.748G>A	16.37:g.9010986C>T	ENSP00000343535:p.Asp250Asn		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460148	0.84317	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.30714	1.52;1.52;1.52	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.51593	-0.8686	10	0.40728	T	0.16	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	250;234	Q93009;B7Z815	UBP7_HUMAN;.	N	250;258;151;151;192	ENSP00000343535:D250N;ENSP00000443646:D151N;ENSP00000439272:D192N	ENSP00000343535:D250N	D	-	1	0	USP7	8918487	1.000000	0.71417	0.548000	0.28192	0.299000	0.27559	7.684000	0.84104	2.808000	0.96608	0.650000	0.86243	GAT		0.343	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			
UTRN	7402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	144768773	144768773	+	Silent	SNP	A	A	T			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr6:144768773A>T	ENST00000367545.3	+	15	1758	c.1758A>T	c.(1756-1758)acA>acT	p.T586T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	586	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T586T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCGTCAAACATTGGATCAGC	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	125.0	126.0					6																	144768773		2203	4300	6503	SO:0001819	synonymous_variant	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.1758A>T	6.37:g.144768773A>T			Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	CCDS34547.1																																																																																				0.393	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191571	10191572	+	Nonsense_Mutation	DNP	GG	GG	TT	rs121913345		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr3:10191571_10191572GG>TT	ENST00000256474.2	+	3	1404_1405	c.564_565GG>TT	c.(562-567)ctGGaa>ctTTaa	p.E189*	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Nonsense_Mutation_p.E148*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	189					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.E189K(3)|p.E189*(2)|p.E189fs*12(1)|p.D187fs*14(1)|p.E189fs*27(1)|p.E189fs*25(1)|p.Y185fs*11(1)|p.E189fs*13(1)|p.L188L(1)|p.L188>?(1)|p.D187_N193del(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)		ACGAAGATCTGGAAGACCACCC	0.5		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"""	14	Deletion - Frameshift(5)|Substitution - Missense(3)|Substitution - Nonsense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex(1)|Substitution - coding silent(1)	kidney(14)	GRCh37	CD983007	VHL	D																																				SO:0001587	stop_gained	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	Exception_encountered	3.37:g.10191571_10191572delinsTT	ENSP00000256474:p.Glu189*		B2RE45|Q13599|Q6PDA9	Silent|Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.500	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZFR2	23217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3813874	3813874	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr19:3813874delT	ENST00000262961.4	-	14	2196	c.2186delA	c.(2185-2187)cagfs	p.Q729fs		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	729	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TATGGTGACCTGCATCCTGGG	0.587																																																	0													93.0	104.0	101.0					19																	3813874		2109	4213	6322	SO:0001589	frameshift_variant	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2186delA	19.37:g.3813874delT	ENSP00000262961:p.Gln729fs			Frame_Shift_Del	DEL	ENST00000262961.4	37	CCDS45921.1																																																																																				0.587	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174	
ZNF354C	30832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178506605	178506605	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr5:178506605G>A	ENST00000315475.6	+	5	1478	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	391					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.R391K(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAATGTGGGAGAACCTTCACA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											135.0	125.0	128.0					5																	178506605		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1172G>A	5.37:g.178506605G>A	ENSP00000324064:p.Arg391Lys		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	6.247	0.413659	0.11812	.	.	ENSG00000177932	ENST00000315475	T	0.07114	3.22	4.04	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.01417	-0.88	0.32127	N	0.587265	B	0.20671	0.047	B	0.23852	0.049	T	0.37197	-0.9716	9	0.02654	T	1	-19.3226	5.4894	0.16767	0.2211:0.0:0.7789:0.0	.	391	Q86Y25	Z354C_HUMAN	K	391	ENSP00000324064:R391K	ENSP00000324064:R391K	R	+	2	0	ZNF354C	178439211	0.969000	0.33509	1.000000	0.80357	0.978000	0.69477	1.574000	0.36482	2.226000	0.72624	0.591000	0.81541	AGA		0.428	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346444	72346444	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr18:72346444A>C	ENST00000299687.5	+	1	3469	c.3469A>C	c.(3469-3471)Aat>Cat	p.N1157H	ZNF407_ENST00000577538.1_Missense_Mutation_p.N1157H|ZNF407_ENST00000582337.1_Missense_Mutation_p.N1157H|ZNF407_ENST00000309902.6_Missense_Mutation_p.N1157H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N1157H(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAGAATCTAATTTCAATGA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											63.0	64.0	64.0					18																	72346444		1881	4135	6016	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3469A>C	18.37:g.72346444A>C	ENSP00000299687:p.Asn1157His		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678824	0.29783	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10288	2.89;3.33	5.86	1.72	0.24424	.	0.703433	0.13928	N	0.353110	T	0.08088	0.0202	L	0.32530	0.975	0.09310	N	1	B;B;B	0.21071	0.051;0.051;0.03	B;B;B	0.21917	0.037;0.025;0.011	T	0.35025	-0.9805	10	0.30854	T	0.27	.	7.1397	0.25548	0.6838:0.1219:0.1943:0.0	.	1157;1157;1157	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	1157	ENSP00000299687:N1157H;ENSP00000310359:N1157H	ENSP00000299687:N1157H	N	+	1	0	ZNF407	70475432	0.002000	0.14202	0.067000	0.19924	0.420000	0.31355	0.767000	0.26575	0.478000	0.27488	-0.256000	0.11100	AAT		0.388	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757	
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49557609	49557609	+	Missense_Mutation	SNP	C	C	A	rs552839268		TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr16:49557609C>A	ENST00000561648.1	-	7	3804	c.3751G>T	c.(3751-3753)Gtg>Ttg	p.V1251L	ZNF423_ENST00000563137.2_Missense_Mutation_p.V1191L|ZNF423_ENST00000562871.1_Missense_Mutation_p.V1191L|ZNF423_ENST00000562520.1_Missense_Mutation_p.V1191L|ZNF423_ENST00000262383.2_Missense_Mutation_p.V1251L|ZNF423_ENST00000567169.1_Missense_Mutation_p.V1134L|ZNF423_ENST00000535559.1_Missense_Mutation_p.V1134L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1251					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1251L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGCCCGTGCACGGCAAAGATG	0.602																																																	2	Substitution - Missense(2)	kidney(2)											168.0	116.0	134.0					16																	49557609		2199	4300	6499	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3751G>T	16.37:g.49557609C>A	ENSP00000455426:p.Val1251Leu		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958044	0.73902	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.78924	1.66;-1.22	5.41	4.45	0.53987	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000003	T	0.74711	0.3752	N	0.20610	0.595	0.40258	D	0.978148	P	0.52061	0.95	P	0.55749	0.783	T	0.74054	-0.3788	9	.	.	.	-20.4406	14.3112	0.66416	0.0:0.9282:0.0:0.0718	.	1251	Q2M1K9	ZN423_HUMAN	L	1251;1134	ENSP00000262383:V1251L;ENSP00000442321:V1134L	.	V	-	1	0	ZNF423	48115110	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	7.480000	0.81109	1.278000	0.44430	0.561000	0.74099	GTG		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069	
ZNF658	26149	broad.mit.edu	37	9	40772272	40772272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr9:40772272delT	ENST00000602553.1	-	5	3297	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.K1001fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1001					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGCAAAAGCTTTTCCGCATT	0.433																																																	0													38.0	57.0	52.0					9																	40772272		1418	3698	5116	SO:0001589	frameshift_variant	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.3003delA	9.37:g.40772272delT	ENSP00000473484:p.Lys1001fs		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Frame_Shift_Del	DEL	ENST00000602553.1	37	CCDS35023.1																																																																																				0.433	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1		NM_033160	
ZNF703	80139	broad.mit.edu;hgsc.bcm.edu	37	8	37556057	37556057	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr8:37556057C>A	ENST00000331569.4	+	2	1867	c.1638C>A	c.(1636-1638)caC>caA	p.H546Q		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	546					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.H546Q(1)	FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GCCGGTACCACCCCTATGGCA	0.682																																																	1	Substitution - Missense(1)	kidney(1)											19.0	19.0	19.0					8																	37556057		2200	4295	6495	SO:0001583	missense	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1638C>A	8.37:g.37556057C>A	ENSP00000332325:p.His546Gln		Q5XG76	Missense_Mutation	SNP	ENST00000331569.4	37	CCDS6094.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829110	0.50845	.	.	ENSG00000183779	ENST00000331569;ENST00000397235	T	0.74947	-0.89	3.7	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	M	0.68317	2.08	0.53688	D	0.999978	D	0.71674	0.998	D	0.73708	0.981	T	0.79933	-0.1594	10	0.87932	D	0	-12.4579	6.7268	0.23361	0.0:0.7065:0.0:0.2935	.	546	Q9H7S9	ZN703_HUMAN	Q	546;119	ENSP00000332325:H546Q	ENSP00000332325:H546Q	H	+	3	2	ZNF703	37675215	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.886000	0.28241	0.757000	0.33036	0.313000	0.20887	CAC		0.682	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2		NM_025069	
ZNF862	643641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	149559035	149559035	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr7:149559035T>C	ENST00000223210.4	+	7	3031	c.2786T>C	c.(2785-2787)aTt>aCt	p.I929T	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	929					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.I929T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CTGACGGGGATTGAGTACCTC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											111.0	117.0	115.0					7																	149559035		2045	4191	6236	SO:0001583	missense	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.2786T>C	7.37:g.149559035T>C	ENSP00000223210:p.Ile929Thr		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553949	0.03996	.	.	ENSG00000106479	ENST00000223210	T	0.01099	5.34	5.39	3.04	0.35103	.	1.039550	0.07652	N	0.932109	T	0.01189	0.0039	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49457	-0.8938	10	0.52906	T	0.07	-16.9606	6.4739	0.22024	0.0:0.1965:0.0:0.8035	.	929	O60290	ZN862_HUMAN	T	929	ENSP00000223210:I929T	ENSP00000223210:I929T	I	+	2	0	ZNF862	149189968	0.000000	0.05858	0.001000	0.08648	0.247000	0.25773	0.401000	0.20948	0.380000	0.24823	0.533000	0.62120	ATT		0.582	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1		NM_001099220	
ZRANB1	54764	hgsc.bcm.edu	37	10	126673560	126673561	+	Stop_Codon_Ins	INS	-	-	A	rs74898717|rs76372220|rs535580590|rs112752280	byFrequency	TCGA-BP-5176-01A-01D-1429-08	TCGA-BP-5176-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	607eb48b-1647-4e35-ac60-f6c50341e304	b4effa58-b677-4f97-9653-38ca864a9114	g.chr10:126673560_126673561insA	ENST00000359653.4	+	0	2497_2498					NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.*709fs?(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GAAGATGAATGAAAAAAAAAAT	0.45													|||unknown(HR)	330	0.0658946	0.0469	0.1715	5008	,	,		20362	0.0129		0.1004	False		,,,				2504	0.0358																1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001567	stop_retained_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.2134dupA	10.37:g.126673570_126673570dupA			B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Ins	INS	ENST00000359653.4	37	CCDS7642.1																																																																																				0.450	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580	
