#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
ABL2	27	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	179090792	179090792	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:179090792C>T	ENST00000502732.1	-	5	1101	c.898G>A	c.(898-900)Gga>Aga	p.G300R	ABL2_ENST00000504405.1_Missense_Mutation_p.G264R|ABL2_ENST00000507173.1_Missense_Mutation_p.G279R|ABL2_ENST00000512653.1_Missense_Mutation_p.G285R|ABL2_ENST00000511413.1_Missense_Mutation_p.G300R|ABL2_ENST00000392043.3_Missense_Mutation_p.G279R|ABL2_ENST00000344730.3_Missense_Mutation_p.G285R|ABL2_ENST00000408940.3_Missense_Mutation_p.G264R|ABL2_ENST00000367623.4_Missense_Mutation_p.G279R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G264R(1)|p.G300R(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TAAACCTCTCCATACTGACCG	0.448			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	2	Substitution - Missense(2)	kidney(2)											195.0	168.0	177.0					1																	179090792		2203	4300	6503	SO:0001583	missense	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.898G>A	1.37:g.179090792C>T	ENSP00000427562:p.Gly300Arg		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880188	0.91740	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000092	D	0.93635	0.7967	H	0.97415	4	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95848	0.8872	10	0.87932	D	0	.	17.7116	0.88323	0.0:1.0:0.0:0.0	.	279;279;300;264;264;279;264;300;285;264;285	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	R	300;264;285;285;264;279;279;300;279	ENSP00000427562:G300R;ENSP00000386152:G264R;ENSP00000339209:G285R;ENSP00000423578:G285R;ENSP00000426831:G264R;ENSP00000356595:G279R;ENSP00000423413:G279R;ENSP00000424697:G300R;ENSP00000375897:G279R	ENSP00000339209:G285R	G	-	1	0	ABL2	177357415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.418000	0.82041	0.655000	0.94253	GGA		0.448	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3		NM_005158	
ACAD10	80724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112186993	112186993	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:112186993C>T	ENST00000313698.4	+	18	2816	c.2661C>T	c.(2659-2661)gtC>gtT	p.V887V	ACAD10_ENST00000455480.2_Silent_p.V918V	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	887						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.V887V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATGGTGAAGTCCGATTTGAGC	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											204.0	195.0	198.0					12																	112186993		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2661C>T	12.37:g.112186993C>T			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	CCDS31903.1																																																																																				0.547	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247	
ADAM12	8038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	127824195	127824195	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:127824195T>A	ENST00000368679.4	-	5	692	c.383A>T	c.(382-384)tAt>tTt	p.Y128F	ADAM12_ENST00000368676.4_Missense_Mutation_p.Y128F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	128					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.Y128F(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGAATCAGAATATCCCCGTAC	0.468																																																	3	Substitution - Missense(3)	kidney(3)											159.0	121.0	133.0					10																	127824195		2203	4300	6503	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.383A>T	10.37:g.127824195T>A	ENSP00000357668:p.Tyr128Phe		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	T	2.055	-0.416683	0.04766	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.05996	3.36;3.36;3.36	3.96	1.5	0.22942	Peptidase M12B, propeptide (1);	0.458554	0.21583	N	0.072207	T	0.04543	0.0124	N	0.21583	0.68	0.09310	N	1	P;P;P;P;B	0.45078	0.85;0.82;0.82;0.82;0.009	P;B;B;B;B	0.45971	0.499;0.366;0.366;0.366;0.006	T	0.33085	-0.9882	10	0.09843	T	0.71	.	5.7774	0.18287	0.1588:0.0:0.3288:0.5124	.	125;125;128;125;128	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	F	128;128;125	ENSP00000357668:Y128F;ENSP00000357665:Y128F;ENSP00000391268:Y125F	ENSP00000357665:Y128F	Y	-	2	0	ADAM12	127814185	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	0.499000	0.22546	0.111000	0.17947	0.402000	0.26972	TAT		0.468	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			
AIMP1	9255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	107252948	107252948	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr4:107252948G>A	ENST00000442366.1	+	5	563	c.511G>A	c.(511-513)Gca>Aca	p.A171T	AIMP1_ENST00000394701.4_Missense_Mutation_p.A195T|AIMP1_ENST00000358008.3_Missense_Mutation_p.A171T	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	171	Interaction with HSP90B1. {ECO:0000250}.|Required for endothelial cell migration.|tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.A171T(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						ACACCCTGATGCAGATTCTTT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											203.0	207.0	206.0					4																	107252948		2203	4300	6503	SO:0001583	missense	9255			U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.511G>A	4.37:g.107252948G>A	ENSP00000405248:p.Ala171Thr		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	ENST00000442366.1	37	CCDS3674.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355356	0.95854	.	.	ENSG00000164022	ENST00000442366;ENST00000358008;ENST00000394701	T;T;T	0.56103	0.53;0.53;0.48	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.92507	3.315	0.80722	D	1	D	0.56746	0.977	P	0.48400	0.576	T	0.79990	-0.1570	9	.	.	.	-25.2512	19.3164	0.94215	0.0:0.0:1.0:0.0	.	171	Q12904	AIMP1_HUMAN	T	171;171;195	ENSP00000405248:A171T;ENSP00000350699:A171T;ENSP00000378191:A195T	.	A	+	1	0	AIMP1	107472397	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.040000	0.93783	2.561000	0.86390	0.650000	0.86243	GCA		0.448	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1		NM_004757	
ALOXE3	59344	broad.mit.edu;ucsc.edu	37	17	8018347	8018347	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:8018347A>C	ENST00000448843.2	-	5	803	c.463T>G	c.(463-465)Tgc>Ggc	p.C155G	ALOXE3_ENST00000318227.3_Missense_Mutation_p.C287G|ALOXE3_ENST00000380149.1_Missense_Mutation_p.C311G	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	155	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.			C -> R (in Ref. 1; CAC12843). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.C287G(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCTACCATGCAGGGGAAGCCA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											141.0	135.0	137.0					17																	8018347		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.463T>G	17.37:g.8018347A>C	ENSP00000400581:p.Cys155Gly		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	A	5.005	0.186542	0.09495	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89415	-2.51;-2.51;-2.51	5.85	-0.475	0.12104	Lipoxygenase, C-terminal (2);	0.890980	0.09485	N	0.795873	T	0.69043	0.3067	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.57568	-0.7789	10	0.23302	T	0.38	-3.059	6.4332	0.21809	0.1507:0.1148:0.6322:0.1023	.	287;155;155	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	G	311;287;155	ENSP00000369494:C311G;ENSP00000314879:C287G;ENSP00000400581:C155G	ENSP00000314879:C287G	C	-	1	0	ALOXE3	7959072	0.004000	0.15560	0.004000	0.12327	0.691000	0.40173	0.355000	0.20163	0.088000	0.17205	-0.132000	0.14878	TGC		0.493	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			
ANAPC7	51434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110815266	110815266	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:110815266A>T	ENST00000455511.3	-	9	1391	c.1391T>A	c.(1390-1392)tTa>tAa	p.L464*	ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.L464*|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	464					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.L430*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTTATCTAATAATGTTTTGGC	0.418																																																	1	Substitution - Nonsense(1)	kidney(1)											251.0	213.0	226.0					12																	110815266		2203	4300	6503	SO:0001587	stop_gained	51434			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1391T>A	12.37:g.110815266A>T	ENSP00000394394:p.Leu464*		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	A	41	9.101324	0.99066	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-13.411	16.1303	0.81428	1.0:0.0:0.0:0.0	.	.	.	.	X	464;38;62;464;157	.	ENSP00000402314:L464X	L	-	2	0	ANAPC7	109299649	1.000000	0.71417	0.850000	0.33497	0.992000	0.81027	8.962000	0.93254	2.218000	0.71995	0.533000	0.62120	TTA		0.418	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3		NM_016238	
APC2	10297	broad.mit.edu	37	19	1453570	1453570	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:1453570C>T	ENST00000535453.1	+	3	2086	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	APC2_ENST00000233607.2_Missense_Mutation_p.R125W|APC2_ENST00000238483.4_Missense_Mutation_p.R125W			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.R125W(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGAGCCGGGCCACCAT	0.736																																																	1	Substitution - Missense(1)	kidney(1)											8.0	12.0	11.0					19																	1453570		2171	4253	6424	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.373C>T	19.37:g.1453570C>T	ENSP00000442954:p.Arg125Trp		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248059	0.80024	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.81078	-1.45;-1.45;-1.45	4.67	2.25	0.28309	.	0.089452	0.43919	D	0.000505	D	0.84552	0.5497	L	0.55481	1.735	0.21782	N	0.999542	D;D	0.89917	1.0;1.0	D;D	0.75484	0.977;0.986	T	0.72861	-0.4164	10	0.87932	D	0	-32.2251	9.527	0.39171	0.3105:0.6895:0.0:0.0	.	125;125	O95996-3;O95996	.;APC2_HUMAN	W	125	ENSP00000233607:R125W;ENSP00000238483:R125W;ENSP00000442954:R125W	ENSP00000233607:R125W	R	+	1	2	APC2	1404570	0.941000	0.31946	1.000000	0.80357	0.987000	0.75469	0.017000	0.13399	2.149000	0.67028	0.462000	0.41574	CGG		0.736	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883	
AQP11	282679	broad.mit.edu;hgsc.bcm.edu	37	11	77314713	77314713	+	Silent	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:77314713T>C	ENST00000313578.3	+	2	1090	c.732T>C	c.(730-732)tcT>tcC	p.S244S	AQP11_ENST00000528638.1_3'UTR	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	244					endosomal lumen acidification (GO:0048388)|protein homooligomerization (GO:0051260)|proximal tubule development (GO:0072014)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S244S(1)		kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			TGGCTCCTTCTTTAGGTAAGC	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											153.0	157.0	155.0					11																	77314713		2200	4292	6492	SO:0001819	synonymous_variant	282679			AB028147	CCDS8251.1	11q13.5	2008-02-05			ENSG00000178301	ENSG00000178301		"""Ion channels / Aquaporins"""	19940	protein-coding gene	gene with protein product		609914				16107722	Standard	NM_173039		Approved		uc001oyj.3	Q8NBQ7	OTTHUMG00000165194	ENST00000313578.3:c.732T>C	11.37:g.77314713T>C				Silent	SNP	ENST00000313578.3	37	CCDS8251.1																																																																																				0.338	AQP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382582.1		NM_173039	
ASXL3	80816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	31324962	31324962	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr18:31324962A>C	ENST00000269197.5	+	12	5150	c.5150A>C	c.(5149-5151)gAa>gCa	p.E1717A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E1717A(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTCCCATGGAAGAGGCTATT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											79.0	81.0	80.0					18																	31324962		2016	4205	6221	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5150A>C	18.37:g.31324962A>C	ENSP00000269197:p.Glu1717Ala		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.412271	0.42817	.	.	ENSG00000141431	ENST00000269197	T	0.18502	2.21	5.86	5.86	0.93980	.	.	.	.	.	T	0.13372	0.0324	N	0.24115	0.695	0.45342	D	0.998339	P	0.34562	0.457	B	0.34038	0.174	T	0.13656	-1.0501	9	0.24483	T	0.36	.	16.255	0.82510	1.0:0.0:0.0:0.0	.	1717	Q9C0F0	ASXL3_HUMAN	A	1717	ENSP00000269197:E1717A	ENSP00000269197:E1717A	E	+	2	0	ASXL3	29578960	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.464000	0.80887	2.240000	0.73641	0.533000	0.62120	GAA		0.567	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			
ATP1A3	478	broad.mit.edu;hgsc.bcm.edu	37	19	42490382	42490382	+	Splice_Site	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:42490382C>A	ENST00000302102.5	-	5	508		c.e5-1		ATP1A3_ENST00000543770.1_Splice_Site|ATP1A3_ENST00000545399.1_Splice_Site|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Splice_Site	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide						adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.?(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGTACAGCTGTGGGGAGA	0.602																																																	1	Unknown(1)	kidney(1)											43.0	37.0	39.0					19																	42490382		2203	4300	6503	SO:0001630	splice_region_variant	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.358-1G>T	19.37:g.42490382C>A			B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Splice_Site	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204740	0.58234	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	.	.	.	3.6	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5331	0.61633	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP1A3	47182222	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	7.750000	0.85110	1.965000	0.57142	0.491000	0.48974	.		0.602	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1		NM_152296	Intron
DDX39B	7919	hgsc.bcm.edu	37	6	31504362	31504363	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:31504362_31504363insAG	ENST00000396172.1	-	5	1160_1161	c.530_531insCT	c.(529-531)ctafs	p.L177fs	DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.L177fs|DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.L130fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.L177fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.L99fs|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.L192fs	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	177	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAGCCAGGGCTAGGATACGGCC	0.47																																																	0																																										SO:0001589	frameshift_variant	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.529_530dupCT	6.37:g.31504363_31504364dupAG	ENSP00000379475:p.Leu177fs		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	CCDS4697.1																																																																																				0.470	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640	
BRPF1	7862	broad.mit.edu;hgsc.bcm.edu	37	3	9785380	9785380	+	Silent	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:9785380C>G	ENST00000457855.1	+	7	2423	c.2412C>G	c.(2410-2412)ggC>ggG	p.G804G	BRPF1_ENST00000302054.3_Silent_p.G804G|BRPF1_ENST00000383829.2_Silent_p.G810G|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000433861.2_Silent_p.G804G|BRPF1_ENST00000424362.1_Silent_p.G803G			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	804	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G810G(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGAGTGTGGGCCGCTCACGGC	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	34.0	35.0					3																	9785380		2203	4300	6503	SO:0001819	synonymous_variant	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2412C>G	3.37:g.9785380C>G			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	CCDS2575.1																																																																																				0.587	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1		NM_001003694	
SPRYD7	57213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	50495711	50495711	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr13:50495711A>G	ENST00000361840.3	-	4	500	c.396T>C	c.(394-396)atT>atC	p.I132I	SPRYD7_ENST00000378195.2_Silent_p.I93I	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	132	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.							p.I132I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGTCATAAGTAATACCCTAGG	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	83.0	84.0					13																	50495711		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.396T>C	13.37:g.50495711A>G			A8K3G1|O60648|Q8TBG8|Q96T69	Silent	SNP	ENST00000361840.3	37	CCDS9422.1																																																																																				0.393	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2		NM_020456	
CCDC176	80127	broad.mit.edu;hgsc.bcm.edu	37	14	74489763	74489763	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr14:74489763A>T	ENST00000394009.3	+	2	324	c.201A>T	c.(199-201)ttA>ttT	p.L67F	CCDC176_ENST00000489323.1_Intron	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	67					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.L67F(1)									ATGAGGACTTAAAGAAAAAGC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											114.0	92.0	98.0					14																	74489763		1568	3582	5150	SO:0001583	missense	0			BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.201A>T	14.37:g.74489763A>T	ENSP00000377577:p.Leu67Phe		Q0P604|Q9H5P8	Missense_Mutation	SNP	ENST00000394009.3	37	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476953	0.44044	.	.	ENSG00000119636	ENST00000394009	T	0.34667	1.35	4.7	0.726	0.18248	.	0.000000	0.49305	U	0.000143	T	0.30008	0.0751	M	0.68952	2.095	0.80722	D	1	B	0.23540	0.087	B	0.25759	0.063	T	0.08166	-1.0735	10	0.44086	T	0.13	-0.464	3.4195	0.07388	0.5695:0.0:0.2639:0.1665	.	67	Q8ND07	CN045_HUMAN	F	67	ENSP00000377577:L67F	ENSP00000377577:L67F	L	+	3	2	C14orf45	73559516	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	0.560000	0.23500	0.256000	0.21614	0.477000	0.44152	TTA		0.398	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1		NM_025057	
BRAT1	221927	broad.mit.edu;ucsc.edu	37	7	2577853	2577853	+	Silent	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:2577853C>G	ENST00000340611.4	-	14	2572	c.2316G>C	c.(2314-2316)gtG>gtC	p.V772V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	772					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)		p.V772V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCATGGCCAGCACAGCCTCAG	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											18.0	19.0	18.0					7																	2577853		2198	4284	6482	SO:0001819	synonymous_variant	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.2316G>C	7.37:g.2577853C>G			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	ENST00000340611.4	37	CCDS5334.1																																																																																				0.706	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2		NM_152743	
CGRRF1	10668	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55004493	55004493	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr14:55004493C>T	ENST00000216420.7	+	5	756	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	208					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.C208C(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AACTATCCTGCAGAATATTGT	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	81.0	82.0					14																	55004493		2203	4297	6500	SO:0001819	synonymous_variant	10668			BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.624C>T	14.37:g.55004493C>T			Q96BX2	Silent	SNP	ENST00000216420.7	37	CCDS9719.1																																																																																				0.318	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2		NM_006568	
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6690827	6690827	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:6690827C>T	ENST00000357008.2	-	31	4832	c.4669G>A	c.(4669-4671)Gtc>Atc	p.V1557I	CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.V1585I|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.V1550I|CHD4_ENST00000544484.1_Missense_Mutation_p.V1582I|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1557					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.V1557I(1)|p.V1585I(1)		central_nervous_system(2)	2						GCAGGTGGGACAGGTGCAGGA	0.542																																					Colon(32;586 792 4568 16848 45314)												2	Substitution - Missense(2)	kidney(2)											186.0	167.0	174.0					12																	6690827		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4669G>A	12.37:g.6690827C>T	ENSP00000349508:p.Val1557Ile		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944111	0.53079	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90324	-2.65;-2.62;-2.64;-2.62	5.97	5.97	0.96955	.	0.988254	0.08236	N	0.976751	D	0.90872	0.7132	L	0.56769	1.78	0.36697	D	0.879905	B;B;B	0.19817	0.019;0.039;0.035	B;B;B	0.23419	0.011;0.01;0.046	T	0.81422	-0.0940	10	0.37606	T	0.19	0.1179	18.6193	0.91316	0.0:1.0:0.0:0.0	.	1585;1557;1550	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1582;1550;1585;1557;1531	ENSP00000440392:V1582I;ENSP00000440542:V1550I;ENSP00000312419:V1585I;ENSP00000349508:V1557I	ENSP00000312419:V1585I	V	-	1	0	CHD4	6561088	0.998000	0.40836	0.921000	0.36526	0.935000	0.57460	3.947000	0.56652	2.836000	0.97738	0.655000	0.94253	GTC		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273	
CPNE5	57699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36742765	36742765	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:36742765C>A	ENST00000244751.2	-	10	1334	c.710G>T	c.(709-711)aGa>aTa	p.R237I		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	237	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R237I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGAGGGCTCTCACGGGAAT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											192.0	156.0	168.0					6																	36742765		2203	4300	6503	SO:0001583	missense	57699			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.710G>T	6.37:g.36742765C>A	ENSP00000244751:p.Arg237Ile		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706916	0.68615	.	.	ENSG00000124772	ENST00000244751	T	0.39229	1.09	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.51914	1.62	0.80722	D	1	P	0.48016	0.904	P	0.52957	0.714	T	0.30031	-0.9992	10	0.51188	T	0.08	.	16.3963	0.83605	0.0:1.0:0.0:0.0	.	237	Q9HCH3	CPNE5_HUMAN	I	237	ENSP00000244751:R237I	ENSP00000244751:R237I	R	-	2	0	CPNE5	36850743	1.000000	0.71417	0.994000	0.49952	0.204000	0.24138	7.373000	0.79623	2.464000	0.83262	0.448000	0.29417	AGA		0.522	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1		NM_020939	
CTNND1	1500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57571149	57571149	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:57571149G>A	ENST00000399050.4	+	8	2013	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	CTNND1_ENST00000524630.1_Missense_Mutation_p.A493T|CTNND1_ENST00000426142.2_Missense_Mutation_p.A392T|CTNND1_ENST00000358694.6_Missense_Mutation_p.A493T|CTNND1_ENST00000534579.1_Missense_Mutation_p.A439T|CTNND1_ENST00000361332.4_Missense_Mutation_p.A493T|CTNND1_ENST00000526938.1_Missense_Mutation_p.A493T|CTNND1_ENST00000529873.1_Missense_Mutation_p.A439T|CTNND1_ENST00000529986.1_Missense_Mutation_p.A392T|CTNND1_ENST00000528232.1_Missense_Mutation_p.A392T|CTNND1_ENST00000532463.1_Missense_Mutation_p.A392T|CTNND1_ENST00000415361.2_Missense_Mutation_p.A392T|CTNND1_ENST00000361391.6_Missense_Mutation_p.A493T|CTNND1_ENST00000531014.1_Missense_Mutation_p.A170T|CTNND1_ENST00000530748.1_Missense_Mutation_p.A439T|CTNND1_ENST00000529919.1_Missense_Mutation_p.A493T|CTNND1_ENST00000526772.1_Missense_Mutation_p.A170T|CTNND1_ENST00000428599.2_Missense_Mutation_p.A493T|CTNND1_ENST00000399039.4_Missense_Mutation_p.A493T|CTNND1_ENST00000532787.1_Missense_Mutation_p.A392T|CTNND1_ENST00000528621.1_Missense_Mutation_p.A439T|CTNND1_ENST00000530094.1_Missense_Mutation_p.A392T|CTNND1_ENST00000525902.1_Missense_Mutation_p.A170T|CTNND1_ENST00000533667.1_Missense_Mutation_p.A170T|CTNND1_ENST00000532649.1_Missense_Mutation_p.A439T|CTNND1_ENST00000532844.1_Missense_Mutation_p.A439T|CTNND1_ENST00000532245.1_Missense_Mutation_p.A392T|CTNND1_ENST00000526357.1_Missense_Mutation_p.A439T|CTNND1_ENST00000361796.4_Missense_Mutation_p.A493T|CTNND1_ENST00000527467.1_Missense_Mutation_p.A170T|CTNND1_ENST00000529526.1_Missense_Mutation_p.A439T|CTNND1_ENST00000360682.6_Missense_Mutation_p.A493T	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	493					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)	p.A493T(2)		breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGTGGACCATGCACTGCATGC	0.468																																																	2	Substitution - Missense(2)	kidney(2)											99.0	91.0	93.0					11																	57571149		1975	4163	6138	SO:0001583	missense	1500			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1477G>A	11.37:g.57571149G>A	ENSP00000382004:p.Ala493Thr		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.690259	0.96793	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.998;0.998;0.986;0.998;0.996	T	0.67277	-0.5711	10	0.52906	T	0.07	-2.9148	19.3681	0.94473	0.0:0.0:1.0:0.0	.	493;493;493;392;439;439;493;493;493	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	T	493;493;493;493;493;439;392;493;493;493;392;392;493;392;170;439;439;439;493;170;392;170;170;439;170;439;439;392;392;392;439;493	ENSP00000436543:A493T;ENSP00000434808:A493T;ENSP00000381996:A493T;ENSP00000353902:A493T;ENSP00000354907:A493T;ENSP00000436323:A439T;ENSP00000409930:A392T;ENSP00000382004:A493T;ENSP00000354785:A493T;ENSP00000354823:A493T;ENSP00000432075:A392T;ENSP00000437156:A392T;ENSP00000351527:A493T;ENSP00000434949:A392T;ENSP00000437051:A170T;ENSP00000435379:A439T;ENSP00000432243:A439T;ENSP00000436744:A439T;ENSP00000413586:A493T;ENSP00000434900:A170T;ENSP00000435266:A392T;ENSP00000432623:A170T;ENSP00000433158:A170T;ENSP00000435494:A439T;ENSP00000434672:A170T;ENSP00000433276:A439T;ENSP00000433334:A439T;ENSP00000437327:A392T;ENSP00000403518:A392T;ENSP00000434017:A392T;ENSP00000435789:A439T;ENSP00000432041:A493T	ENSP00000351527:A493T	A	+	1	0	CTNND1	57327725	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	GCA		0.468	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1		NM_001331	
PIEZO1	9780	hgsc.bcm.edu	37	16	88780635	88780640	+	IGR	DEL	GGTGTG	GGTGTG	-	rs397761749|rs149847195|rs571090098|rs562672342|rs11278302	byFrequency	TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	GGTGTG	GGTGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:88780635_88780640delGGTGTG	ENST00000301015.9	-	0	8072				MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Splice_Site_p.R366del|CTU2_ENST00000453996.2_Splice_Site_p.R366del|CTU2_ENST00000567949.1_Splice_Site_p.R437del|CTU2_ENST00000378384.3_Splice_Site_p.R279del	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						ACtgtgtacaggtgtgggtgtgtgtg	0.646														3875	0.773762	0.5923	0.7997	5008	,	,		15812	0.9385		0.7644	False		,,,				2504	0.8405																0																																										SO:0001628	intergenic_variant	348180			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780641_88780646delGGTGTG			A6NHT9|A7E2B7|Q0KKZ9	Frame_Shift_Del	DEL	ENST00000301015.9	37	CCDS54058.1																																																																																				0.646	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4		NM_014745	
CYLC1	1538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83128529	83128529	+	Silent	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chrX:83128529T>C	ENST00000329312.4	+	4	850	c.813T>C	c.(811-813)aaT>aaC	p.N271N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	271					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N271N(1)|p.N270N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACTCACAGAATAATTCAAAGA	0.323																																																	2	Substitution - coding silent(2)	kidney(2)											31.0	30.0	30.0					X																	83128529		2191	4281	6472	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.813T>C	X.37:g.83128529T>C			A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	CCDS35341.1																																																																																				0.323	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1		NM_021118	
DCDC2	51473	hgsc.bcm.edu;ucsc.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)gcafs	p.A324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.A77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411																																																	0									,	0,4262		0,0,2131					,	6.1	1.0			246	1,8253		0,1,4126	no	frameshift,frameshift	DCDC2	NM_016356.3,NM_001195610.1	,	0,1,6257	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12515				SO:0001589	frameshift_variant	51473			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.971dupG	6.37:g.24205288_24205288dupC	ENSP00000367715:p.Ala324fs		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Frame_Shift_Ins	INS	ENST00000378454.3	37	CCDS4550.1																																																																																				0.411	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1		NM_016356	
DEPDC5	9681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32188047	32188047	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:32188047T>C	ENST00000382112.3	+	10	723	c.653T>C	c.(652-654)gTg>gCg	p.V218A	DEPDC5_ENST00000535622.1_Missense_Mutation_p.V218A|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V218A|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V218A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V218A|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V218A|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V218A|DEPDC5_ENST00000536766.1_Missense_Mutation_p.V190A|DEPDC5_ENST00000400242.3_Missense_Mutation_p.V218A|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V218A	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	218					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.V218A(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGTGACAGTGGTCCTGTTT	0.403																																																	2	Substitution - Missense(2)	kidney(2)											146.0	138.0	141.0					22																	32188047		1861	4101	5962	SO:0001583	missense	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.653T>C	22.37:g.32188047T>C	ENSP00000371546:p.Val218Ala		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	-	25.5	4.649218	0.87958	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.50277	1.38;1.33;0.75;1.77;1.74;1.76;1.36;1.74;1.76;1.74	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.983;0.992;0.981;0.996;0.984	D;P;D;D;D;P	0.71656	0.974;0.826;0.95;0.928;0.947;0.79	T	0.64728	-0.6339	10	0.87932	D	0	.	14.7907	0.69841	0.0:0.0:0.0:1.0	.	218;190;218;218;218;218	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	A	218;190;218;218;218;218;218;218;218;218;218	ENSP00000440210:V218A;ENSP00000441358:V190A;ENSP00000383101:V218A;ENSP00000266091:V218A;ENSP00000383108:V218A;ENSP00000383105:V218A;ENSP00000371539:V218A;ENSP00000371546:V218A;ENSP00000371545:V218A;ENSP00000383107:V218A	ENSP00000266091:V218A	V	+	2	0	DEPDC5	30518047	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.996000	0.76263	2.173000	0.68751	0.515000	0.50301	GTG		0.403	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662	
DLC1	10395	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	12950255	12950255	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:12950255C>G	ENST00000276297.4	-	13	4015	c.3606G>C	c.(3604-3606)caG>caC	p.Q1202H	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.Q765H|DLC1_ENST00000520226.1_Missense_Mutation_p.Q691H|DLC1_ENST00000512044.2_Missense_Mutation_p.Q799H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1202	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.Q1202H(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAAGCAGGGTCTGCAGAACCT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											84.0	71.0	76.0					8																	12950255		2203	4300	6503	SO:0001583	missense	10395			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3606G>C	8.37:g.12950255C>G	ENSP00000276297:p.Gln1202His		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677576	0.88445	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	4.98	4.98	0.66077	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.064545	0.64402	D	0.000003	T	0.36166	0.0957	L	0.43757	1.38	0.80722	D	1	B;D;D	0.89917	0.07;1.0;0.966	B;D;P	0.74023	0.087;0.982;0.647	T	0.02047	-1.1223	10	0.56958	D	0.05	.	12.1996	0.54317	0.0:0.9222:0.0:0.0778	.	1202;799;765	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	H	1202;765;141;799;691	ENSP00000276297:Q1202H;ENSP00000351797:Q765H;ENSP00000422595:Q799H;ENSP00000428028:Q691H	ENSP00000276297:Q1202H	Q	-	3	2	DLC1	12994626	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.601000	0.46249	2.770000	0.95276	0.655000	0.94253	CAG		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094	
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225721605	225721605	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:225721605G>C	ENST00000258390.7	-	15	1847	c.1780C>G	c.(1780-1782)Cta>Gta	p.L594V	DOCK10_ENST00000409592.3_Missense_Mutation_p.L588V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	594					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L594V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTTTAACTAGGTCCTCAGTT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											104.0	101.0	102.0					2																	225721605		1824	4082	5906	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1780C>G	2.37:g.225721605G>C	ENSP00000258390:p.Leu594Val		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790058	0.50102	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.02140	4.43;4.43	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	M	0.84326	2.69	0.46167	D	0.998909	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.996	T	0.00015	-1.2393	10	0.66056	D	0.02	.	10.933	0.47228	0.1137:0.0:0.8863:0.0	.	594;588	Q96BY6;B3FL70	DOC10_HUMAN;.	V	588;594	ENSP00000386694:L588V;ENSP00000258390:L594V	ENSP00000258390:L594V	L	-	1	2	DOCK10	225429849	1.000000	0.71417	0.996000	0.52242	0.221000	0.24807	6.165000	0.71891	2.699000	0.92147	0.579000	0.79373	CTA		0.313	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
DOCK2	1794	broad.mit.edu;ucsc.edu	37	5	169494675	169494675	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:169494675C>T	ENST00000256935.8	+	45	4709	c.4629C>T	c.(4627-4629)ttC>ttT	p.F1543F	DOCK2_ENST00000520908.1_Silent_p.F1035F|DOCK2_ENST00000540750.1_Silent_p.F604F|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1543	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.F1543F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGAGGCTTCGCCAAGTATG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	132.0	134.0					5																	169494675		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4629C>T	5.37:g.169494675C>T			Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	CCDS4371.1																																																																																				0.552	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946	
FAM160A2	84067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6233063	6233063	+	Silent	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:6233063G>T	ENST00000449352.2	-	12	2855	c.2592C>A	c.(2590-2592)ctC>ctA	p.L864L	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Silent_p.L878L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	864					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.L878L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGCCGCAGGAGTAACTCCC	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	105.0	101.0					11																	6233063		2200	4295	6495	SO:0001819	synonymous_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2592C>A	11.37:g.6233063G>T			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	ENST00000449352.2	37	CCDS44530.1																																																																																				0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1		NM_032127	
FAM21C	253725	broad.mit.edu	37	10	46272804	46272804	+	Silent	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:46272804G>A	ENST00000336378.4	+	22	2338	c.2220G>A	c.(2218-2220)gtG>gtA	p.V740V	FAM21C_ENST00000374362.2_Silent_p.V742V|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000359860.4_Silent_p.V684V|FAM21C_ENST00000540872.1_Silent_p.V742V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	740					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.V739V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGAAGTCTGTGGATAAGAAGG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											134.0	133.0	133.0					10																	46272804		1816	4046	5862	SO:0001819	synonymous_variant	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2220G>A	10.37:g.46272804G>A			B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37																																																																																					0.423	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
FAM86B1	85002	broad.mit.edu	37	8	12044016	12044016	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:12044016T>A	ENST00000448228.2	-	5	534	c.485A>T	c.(484-486)cAg>cTg	p.Q162L	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000534520.1_Intron|FAM86B1_ENST00000533852.2_Missense_Mutation_p.Q196L|FAM86B1_ENST00000533513.1_3'UTR	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	162								p.Q196L(1)		kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CCCTCGGAGCTGCTCGAGGAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											39.0	43.0	42.0					8																	12044016		1489	2646	4135	SO:0001583	missense	85002			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.485A>T	8.37:g.12044016T>A	ENSP00000407067:p.Gln162Leu			Missense_Mutation	SNP	ENST00000448228.2	37	CCDS59512.1	.	.	.	.	.	.	.	.	.	.	-	11.47	1.647751	0.29336	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	T	0.04234	3.67	1.17	1.17	0.20885	.	.	.	.	.	T	0.06872	0.0175	N	0.16368	0.405	0.80722	D	1	P;D	0.67145	0.952;0.996	P;D	0.68765	0.777;0.96	T	0.51849	-0.8653	9	0.25106	T	0.35	.	6.488	0.22099	0.0:0.0:0.0:1.0	.	162;196	Q8N7N1;E9PN63	F86B1_HUMAN;.	L	196;162;196	ENSP00000407067:Q162L	ENSP00000444227:Q196L	Q	-	2	0	FAM86B1	12081425	1.000000	0.71417	0.321000	0.25320	0.215000	0.24574	2.416000	0.44644	0.788000	0.33755	0.145000	0.16022	CAG		0.617	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1		NM_032916	
FBXO18	84893	hgsc.bcm.edu;ucsc.edu	37	10	5967396	5967404	+	In_Frame_Del	DEL	ATTTTGTGA	ATTTTGTGA	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	ATTTTGTGA	ATTTTGTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:5967396_5967404delATTTTGTGA	ENST00000362091.4	+	18	2778_2786	c.2663_2671delATTTTGTGA	c.(2662-2673)gattttgtgaaa>gaa	p.888_891DFVK>E	FBXO18_ENST00000379999.5_In_Frame_Del_p.939_942DFVK>E|FBXO18_ENST00000397269.3_In_Frame_Del_p.392_395DFVK>E	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	888					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GTTTTGGATGATTTTGTGAAAGTGCCTTG	0.512																																																	0																																										SO:0001651	inframe_deletion	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2663_2671delATTTTGTGA	10.37:g.5967396_5967404delATTTTGTGA	ENSP00000355415:p.Asp888_Lys891delinsGlu		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	In_Frame_Del	DEL	ENST00000362091.4	37	CCDS7072.1																																																																																				0.512	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807	
FNDC1	84624	broad.mit.edu	37	6	159659602	159659602	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:159659602G>A	ENST00000297267.9	+	13	4285	c.4085G>A	c.(4084-4086)cGt>cAt	p.R1362H	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.R1299H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1362					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1362H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GACCTTGATCGTGGGTTAGTA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											101.0	92.0	95.0					6																	159659602		1872	4098	5970	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4085G>A	6.37:g.159659602G>A	ENSP00000297267:p.Arg1362His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071865	0.76301	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.13901	2.55;3.34	6.03	6.03	0.97812	.	0.256178	0.38959	N	0.001520	T	0.30293	0.0760	L	0.60455	1.87	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00875	-1.1531	10	0.72032	D	0.01	-9.1928	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1299;1362	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	1362;1299	ENSP00000297267:R1362H;ENSP00000342460:R1299H	ENSP00000297267:R1362H	R	+	2	0	FNDC1	159579592	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	5.277000	0.65586	2.861000	0.98227	0.655000	0.94253	CGT		0.373	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532	
FZR1	51343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	3533330	3533330	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:3533330C>A	ENST00000395095.3	+	11	1281	c.1281C>A	c.(1279-1281)gtC>gtA	p.V427V	FZR1_ENST00000441788.2_Silent_p.V427V|FZR1_ENST00000313639.8_Silent_p.V338V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	427					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V427V(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCCTTGTCTGGAAGTACC	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	93.0	106.0					19																	3533330		2203	4300	6503	SO:0001819	synonymous_variant	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1281C>A	19.37:g.3533330C>A			O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	CCDS45916.1																																																																																				0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2		NM_016263	
GJC1	10052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42882647	42882647	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:42882647T>A	ENST00000426548.1	-	3	808	c.539A>T	c.(538-540)cAg>cTg	p.Q180L	GJC1_ENST00000592524.1_Missense_Mutation_p.Q180L|GJC1_ENST00000330514.4_Missense_Mutation_p.Q180L|GJC1_ENST00000590758.1_Missense_Mutation_p.Q180L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	180					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.Q180L(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGCCAGCAACTGCAGCACATA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											211.0	190.0	197.0					17																	42882647		2203	4300	6503	SO:0001583	missense	10052			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.539A>T	17.37:g.42882647T>A	ENSP00000411528:p.Gln180Leu		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008961	0.75046	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98192	-4.78;-4.78	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98723	0.9571	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.99826	1.1050	10	0.72032	D	0.01	.	14.8123	0.70006	0.0:0.0:0.0:1.0	.	180	P36383	CXG1_HUMAN	L	180	ENSP00000411528:Q180L;ENSP00000333193:Q180L	ENSP00000333193:Q180L	Q	-	2	0	GJC1	40238173	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.026000	0.88783	2.086000	0.62901	0.421000	0.28195	CAG		0.478	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1		NM_005497	
GPR152	390212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67219269	67219269	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:67219269C>A	ENST00000312457.2	-	1	931	c.927G>T	c.(925-927)gtG>gtT	p.V309V	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V309V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGACGAGAGCACGGAGCGCA	0.647																																					Pancreas(102;800 1581 2723 7382 33622)												1	Substitution - coding silent(1)	kidney(1)											56.0	55.0	55.0					11																	67219269		2200	4295	6495	SO:0001819	synonymous_variant	390212			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.927G>T	11.37:g.67219269C>A			Q0VD88|Q86SM0	Silent	SNP	ENST00000312457.2	37	CCDS8165.1																																																																																				0.647	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1			
GRK6	2870	broad.mit.edu	37	5	176863393	176863393	+	Splice_Site	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:176863393G>T	ENST00000355472.5	+	13	1434		c.e13-1		PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Splice_Site|GRK6_ENST00000393576.3_Splice_Site|GRK6_ENST00000355958.5_Splice_Site|GRK6_ENST00000507633.1_Splice_Site	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6						regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.?(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCCACAGCTCCTCTGCA	0.662																																																	1	Unknown(1)	kidney(1)											25.0	25.0	25.0					5																	176863393		2203	4297	6500	SO:0001630	splice_region_variant	2870				CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1267-1G>T	5.37:g.176863393G>T			O60541|Q13652	Splice_Site	SNP	ENST00000355472.5	37	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365273	0.61513	.	.	ENSG00000198055	ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7341	0.69404	0.0712:0.0:0.9288:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRK6	176795999	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.836000	0.86788	2.625000	0.88918	0.484000	0.47621	.		0.662	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1		NM_002082	Intron
HEBP2	23593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	138734184	138734184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:138734184delA	ENST00000607197.1	+	4	864	c.587delA	c.(586-588)caafs	p.Q196fs	HEBP2_ENST00000448741.1_3'UTR|HEBP2_ENST00000367697.3_3'UTR	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	196					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.N198fs*2(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGGTTGATTCAAAAAAATGAA	0.363																																																	1	Insertion - Frameshift(1)	lung(1)											86.0	90.0	89.0					6																	138734184		2203	4300	6503	SO:0001589	frameshift_variant	23593			AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.587delA	6.37:g.138734184delA	ENSP00000475750:p.Gln196fs		Q96P57	Frame_Shift_Del	DEL	ENST00000607197.1	37	CCDS5191.1																																																																																				0.363	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			
HELB	92797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	66731858	66731858	+	Silent	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:66731858G>A	ENST00000247815.4	+	13	3299	c.3240G>A	c.(3238-3240)aaG>aaA	p.K1080K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1080					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.K1080K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AACTTTTCAAGCCCACCGATA	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	71.0	70.0					12																	66731858		2203	4300	6503	SO:0001819	synonymous_variant	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3240G>A	12.37:g.66731858G>A			A8K4C9|Q4G0T2|Q9H7L5	Silent	SNP	ENST00000247815.4	37	CCDS8976.1																																																																																				0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160461597	160461597	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:160461597G>T	ENST00000356956.1	+	11	1469	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	441					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.D441Y(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGCAGGTAACGATGGGAAAGG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											145.0	126.0	133.0					6																	160461597		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1321G>T	6.37:g.160461597G>T	ENSP00000349437:p.Asp441Tyr		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	g	13.13	2.144427	0.37825	.	.	ENSG00000197081	ENST00000356956	T	0.02446	4.29	4.79	2.05	0.26809	Mannose-6-phosphate receptor, binding (1);	0.660669	0.15796	N	0.244196	T	0.03564	0.0102	M	0.64997	1.995	0.09310	N	1	D	0.63046	0.992	P	0.59703	0.862	T	0.32693	-0.9897	10	0.66056	D	0.02	-12.9867	7.794	0.29138	0.3211:0.0:0.6789:0.0	.	441	P11717	MPRI_HUMAN	Y	441	ENSP00000349437:D441Y	ENSP00000349437:D441Y	D	+	1	0	IGF2R	160381587	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.025000	0.12413	0.467000	0.27218	-0.119000	0.15052	GAT		0.463	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876	
IMPDH1	3614	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128049515	128049515	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:128049515T>C	ENST00000338791.6	-	2	520	c.170A>G	c.(169-171)cAc>cGc	p.H57R	IMPDH1_ENST00000419067.2_Missense_Mutation_p.H57R|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000354269.5_Intron|IMPDH1_ENST00000378717.4_Intron|IMPDH1_ENST00000343214.4_Intron	NM_000883.3	NP_000874.2			IMP (inosine 5'-monophosphate) dehydrogenase 1									p.H57R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TGTCGTCGGGTGTGTAGCGAG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											237.0	257.0	250.0					7																	128049515		2203	4300	6503	SO:0001583	missense	3614				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000338791.6:c.170A>G	7.37:g.128049515T>C	ENSP00000345096:p.His57Arg			Missense_Mutation	SNP	ENST00000338791.6	37	CCDS34749.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347738	0.24426	.	.	ENSG00000106348	ENST00000419067;ENST00000338791	T;T	0.16897	2.31;2.32	4.02	1.6	0.23607	.	.	.	.	.	T	0.07638	0.0192	N	0.08118	0	0.25742	N	0.985156	B;B	0.13594	0.008;0.0	B;B	0.11329	0.006;0.0	T	0.30563	-0.9974	9	0.44086	T	0.13	-0.0512	3.597	0.08010	0.0:0.1205:0.2321:0.6475	.	57;57	C9JV30;A4D0Z6	.;.	R	57	ENSP00000399400:H57R;ENSP00000345096:H57R	ENSP00000345096:H57R	H	-	2	0	IMPDH1	127836751	0.003000	0.15002	0.176000	0.23000	0.335000	0.28730	0.233000	0.17911	0.672000	0.31204	0.454000	0.30748	CAC		0.557	IMPDH1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349458.1		NM_000883	
ITIH2	3698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7759749	7759749	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:7759749G>C	ENST00000358415.4	+	6	794	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	ITIH2_ENST00000379587.4_Missense_Mutation_p.E199Q|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	210					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E210Q(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAACACTTAGAGGTAAGCCT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											119.0	114.0	116.0					10																	7759749		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.628G>C	10.37:g.7759749G>C	ENSP00000351190:p.Glu210Gln		Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169259	0.38315	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.18016	4.88;2.24;4.87	5.47	5.47	0.80525	.	0.052420	0.85682	D	0.000000	T	0.19366	0.0465	L	0.41124	1.26	0.48511	D	0.999668	P	0.46220	0.874	B	0.42692	0.395	T	0.01424	-1.1358	10	0.25751	T	0.34	-32.4592	19.3388	0.94332	0.0:0.0:1.0:0.0	.	210	P19823	ITIH2_HUMAN	Q	210;185;199	ENSP00000351190:E210Q;ENSP00000388826:E185Q;ENSP00000368906:E199Q	ENSP00000351190:E210Q	E	+	1	0	ITIH2	7799755	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	4.067000	0.57527	2.553000	0.86117	0.655000	0.94253	GAG		0.507	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2		NM_002216	
JAK2	3717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	5073717	5073717	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr9:5073717G>T	ENST00000381652.3	+	14	2290	c.1796G>T	c.(1795-1797)aGt>aTt	p.S599I	JAK2_ENST00000539801.1_Missense_Mutation_p.S599I|JAK2_ENST00000544510.1_Missense_Mutation_p.S450I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	599	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.S599I(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GAAGCAGCAAGTATGATGAGC	0.338		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - Missense(1)	kidney(1)											109.0	121.0	117.0					9																	5073717		2203	4299	6502	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1796G>T	9.37:g.5073717G>T	ENSP00000371067:p.Ser599Ile		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758773	0.89843	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.83506	-1.73;-1.73;-1.73	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90662	0.4591	10	0.87932	D	0	-14.1552	19.4075	0.94653	0.0:0.0:1.0:0.0	.	599	O60674	JAK2_HUMAN	I	599;599;450	ENSP00000440387:S599I;ENSP00000371067:S599I;ENSP00000443103:S450I	ENSP00000371067:S599I	S	+	2	0	JAK2	5063717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.388000	0.97237	2.583000	0.87209	0.591000	0.81541	AGT		0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			
KCNS3	3790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	18113665	18113665	+	Missense_Mutation	SNP	G	G	A	rs150320186		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:18113665G>A	ENST00000403915.1	+	3	1841	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.D464N	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	464					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.D464N(3)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGGTGAGCGATCCTGACTC	0.453																																																	3	Substitution - Missense(3)	ovary(1)|large_intestine(1)|kidney(1)						G	ASN/ASP	0,4406		0,0,2203	123.0	112.0	116.0		1390	5.2	0.4	2	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	missense	KCNS3	NM_002252.3	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	464/492	18113665	2,13004	2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1390G>A	2.37:g.18113665G>A	ENSP00000385968:p.Asp464Asn		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	4.513	0.095252	0.08681	0.0	2.33E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97138	-4.26;-4.26	6.07	5.19	0.71726	.	0.658090	0.16144	N	0.227590	D	0.93602	0.7957	N	0.22421	0.69	0.43803	D	0.996355	B	0.10296	0.003	B	0.04013	0.001	D	0.89831	0.3996	10	0.38643	T	0.18	.	15.2363	0.73432	0.0669:0.0:0.9331:0.0	.	464	Q9BQ31	KCNS3_HUMAN	N	464	ENSP00000385968:D464N;ENSP00000305824:D464N	ENSP00000305824:D464N	D	+	1	0	KCNS3	17977146	0.870000	0.30015	0.420000	0.26596	0.987000	0.75469	2.980000	0.49321	1.578000	0.49821	0.655000	0.94253	GAT		0.453	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1		NM_002252	
KIF3B	9371	hgsc.bcm.edu;ucsc.edu	37	20	30919118	30919119	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:30919118_30919119delAG	ENST00000375712.3	+	9	2407_2408	c.2240_2241delAG	c.(2239-2241)aagfs	p.K747fs	KIF3B_ENST00000418717.2_Frame_Shift_Del_p.K373fs	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	747	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGTTCCAAAGTAAAGCCAGC	0.525																																																	0																																										SO:0001589	frameshift_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2240_2241delAG	20.37:g.30919118_30919119delAG	ENSP00000364864:p.Lys747fs		B2RMP4|B4DSR5|E1P5M5	Frame_Shift_Del	DEL	ENST00000375712.3	37	CCDS13200.1																																																																																				0.525	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798	
PPP1R21	129285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48687267	48687267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:48687267G>T	ENST00000294952.8	+	6	731	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.E192*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.E192*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	192						membrane (GO:0016020)	phosphatase binding (GO:0019902)	p.E192*(2)		endometrium(2)|kidney(4)|lung(9)	15						GGAAGCCAAGGAATGTCGACT	0.438																																																	2	Substitution - Nonsense(2)	kidney(2)											93.0	86.0	88.0					2																	48687267		2203	4300	6503	SO:0001587	stop_gained	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.574G>T	2.37:g.48687267G>T	ENSP00000294952:p.Glu192*		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	G	38	6.944760	0.97952	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.4	5.4	0.78164	.	0.295637	0.41500	D	0.000861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.8212	19.5244	0.95197	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000281394:E192X	E	+	1	0	KLRAQ1	48540771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.041000	0.93788	2.693000	0.91896	0.467000	0.42956	GAA		0.438	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4		NM_152994	
KRT6C	286887	broad.mit.edu	37	12	52864378	52864378	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:52864378C>G	ENST00000252250.6	-	6	1161	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	372	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.D372H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CGCAGGTCGTCCCCATGTCTG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											121.0	98.0	106.0					12																	52864378		2202	4278	6480	SO:0001583	missense	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1114G>C	12.37:g.52864378C>G	ENSP00000252250:p.Asp372His		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235266	0.79800	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.89681	-2.55	3.5	3.5	0.40072	Filament (1);	0.000000	0.64402	D	0.000007	D	0.95812	0.8637	H	0.95365	3.66	0.58432	D	0.999992	D	0.59357	0.985	D	0.68765	0.96	D	0.97358	0.9968	10	0.87932	D	0	.	15.5492	0.76133	0.0:1.0:0.0:0.0	.	372	P48668	K2C6C_HUMAN	H	372;357	ENSP00000252250:D372H	ENSP00000252250:D372H	D	-	1	0	KRT6C	51150645	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.756000	0.68757	1.934000	0.56057	0.448000	0.29417	GAC		0.557	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1		NM_173086	
LAMA1	284217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	7032162	7032162	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr18:7032162C>T	ENST00000389658.3	-	16	2270	c.2177G>A	c.(2176-2178)gGc>gAc	p.G726D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	726	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G726D(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCGGTAATAGCCAGAGAGGCA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											87.0	69.0	75.0					18																	7032162		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2177G>A	18.37:g.7032162C>T	ENSP00000374309:p.Gly726Asp			Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425694	0.83667	.	.	ENSG00000101680	ENST00000389658	T	0.66995	-0.24	5.51	5.51	0.81932	EGF-like, laminin (2);	0.070768	0.56097	D	0.000039	D	0.87330	0.6150	H	0.95151	3.63	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90421	0.4417	10	0.59425	D	0.04	.	17.5921	0.87999	0.0:1.0:0.0:0.0	.	726	P25391	LAMA1_HUMAN	D	726	ENSP00000374309:G726D	ENSP00000374309:G726D	G	-	2	0	LAMA1	7022162	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	7.462000	0.80851	2.572000	0.86782	0.655000	0.94253	GGC		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141032077	141032077	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:141032077C>A	ENST00000389484.3	-	85	14029	c.13058G>T	c.(13057-13059)gGa>gTa	p.G4353V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4353	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G4353V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTTTGGTCCTTCATAGCG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	kidney(1)											187.0	151.0	163.0					2																	141032077		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13058G>T	2.37:g.141032077C>A	ENSP00000374135:p.Gly4353Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.321363|4.321363	0.81580|0.81580	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|D	.|0.96587	.|-4.06	5.36|5.36	4.49|4.49	0.54785|0.54785	.|Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.64402	.|U	.|0.000001	D|D	0.96525|0.96525	0.8866|0.8866	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.55260	.|0.772	D|D	0.96291|0.96291	0.9214|0.9214	5|10	.|0.72032	.|D	.|0.01	.|.	12.3132|12.3132	0.54940|0.54940	0.0:0.9211:0.0:0.0789|0.0:0.9211:0.0:0.0789	.|.	.|4353	.|Q9NZR2	.|LRP1B_HUMAN	Y|V	585;85|4353;4291	.|ENSP00000374135:G4353V	.|ENSP00000374135:G4353V	D|G	-|-	1|2	0|0	LRP1B|LRP1B	140748547|140748547	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	1.257000|1.257000	0.44085|0.44085	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
LYST	1130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	235944201	235944201	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:235944201delA	ENST00000389794.3	-	16	5352	c.5178delT	c.(5176-5178)tttfs	p.F1726fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.F1726fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1726					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGGTCATAAAAAGTTCTC	0.259																																																	0													36.0	38.0	38.0					1																	235944201		2202	4300	6502	SO:0001589	frameshift_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5178delT	1.37:g.235944201delA	ENSP00000374444:p.Phe1726fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	CCDS31062.1																																																																																				0.259	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MED30	90390	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	118552190	118552190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:118552190delA	ENST00000297347.3	+	4	674	c.510delA	c.(508-510)atafs	p.I170fs	MED30_ENST00000522839.1_Frame_Shift_Del_p.I135fs	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	170					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			TCTGGGATATAAATGCCATGT	0.313																																					Melanoma(81;817 1341 9674 26244 29255)												0													60.0	60.0	60.0					8																	118552190		2203	4297	6500	SO:0001589	frameshift_variant	90390			AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.510delA	8.37:g.118552190delA	ENSP00000297347:p.Ile170fs		C6GKU9	Frame_Shift_Del	DEL	ENST00000297347.3	37	CCDS6323.1																																																																																				0.313	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1		NM_080651	
METTL9	51108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	21666709	21666709	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:21666709T>A	ENST00000358154.3	+	5	1171	c.913T>A	c.(913-915)Tac>Aac	p.Y305N	METTL9_ENST00000396014.4_Missense_Mutation_p.Y304N|IGSF6_ENST00000268389.4_5'Flank	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	305								p.Y305N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GTATAATGACTACTACGTTCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											112.0	90.0	97.0					16																	21666709		2199	4300	6499	SO:0001583	missense	51108			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.913T>A	16.37:g.21666709T>A	ENSP00000350874:p.Tyr305Asn		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	ENST00000358154.3	37	CCDS10598.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297086	0.81025	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.993	T	0.76769	-0.2837	9	0.87932	D	0	-9.9788	14.5959	0.68407	0.0:0.0:0.0:1.0	.	304;305	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	N	305;304;269	.	ENSP00000350874:Y305N	Y	+	1	0	METTL9	21574210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.674000	0.83992	2.333000	0.79357	0.533000	0.62120	TAC		0.463	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254465.1		NM_016025	
MPST	4357	broad.mit.edu	37	22	37420797	37420797	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:37420797G>T	ENST00000397225.2	+	2	1456	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	MPST_ENST00000401419.3_Missense_Mutation_p.V181L|MPST_ENST00000404802.3_Missense_Mutation_p.V181L|MPST_ENST00000429360.2_Missense_Mutation_p.V181L|MPST_ENST00000341116.3_Missense_Mutation_p.V181L|MPST_ENST00000397129.1_Missense_Mutation_p.V201L|MPST_ENST00000404393.1_Missense_Mutation_p.V181L			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	181	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)	p.V181L(1)		central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CTTCCAGGTGGTGGACTCCCG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											11.0	14.0	13.0					22																	37420797		2163	4233	6396	SO:0001583	missense	4357			X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.541G>T	22.37:g.37420797G>T	ENSP00000380402:p.Val181Leu		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	ENST00000397225.2	37	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845717	0.91197	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.41400	1.97;1.97;1.97;1.97;1.97;1.0;1.97	5.67	5.67	0.87782	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	L	0.51853	1.615	0.80722	D	1	B;B;P;B;D	0.54047	0.108;0.108;0.872;0.108;0.964	B;B;B;B;P	0.49561	0.121;0.121;0.288;0.121;0.615	T	0.46176	-0.9210	10	0.48119	T	0.1	-10.2862	19.7782	0.96405	0.0:0.0:1.0:0.0	.	181;181;181;181;201	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	L	181;201;181;181;181;181;181;181	ENSP00000384812:V181L;ENSP00000380318:V201L;ENSP00000383950:V181L;ENSP00000342333:V181L;ENSP00000411719:V181L;ENSP00000385062:V181L;ENSP00000380402:V181L	ENSP00000342333:V181L	V	+	1	0	MPST	35750743	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.629000	0.83207	2.667000	0.90743	0.561000	0.74099	GTG		0.692	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1		NM_001013440	
MPV17L	255027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15501886	15501886	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:15501886A>T	ENST00000396385.3	+	4	627	c.508A>T	c.(508-510)Agt>Tgt	p.S170C	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000287594.7_Missense_Mutation_p.E146V	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	170					negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)	p.E146V(1)|p.S170C(1)		kidney(2)|large_intestine(1)|skin(1)	4						TTCCCAGCAGAGTGGTGACGG	0.488																																																	2	Substitution - Missense(2)	kidney(2)											59.0	51.0	54.0					16																	15501886		2197	4300	6497	SO:0001583	missense	255027			DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.508A>T	16.37:g.15501886A>T	ENSP00000379669:p.Ser170Cys		B4DDY1|Q6P7T6|Q8N8E9	Missense_Mutation	SNP	ENST00000396385.3	37	CCDS45421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.29|13.29	2.193504|2.193504	0.38707|0.38707	.|.	.|.	ENSG00000156968|ENSG00000156968	ENST00000287594|ENST00000396385	D|D	0.94184|0.89939	-3.37|-2.59	5.29|5.29	3.01|3.01	0.34805|0.34805	.|.	.|0.140128	.|0.45361	.|U	.|0.000367	T|T	0.82226|0.82226	0.4991|0.4991	.|.	.|.	.|.	0.28020|0.28020	N|N	0.934543|0.934543	D|B	0.53151|0.22003	0.958|0.063	P|B	0.48704|0.22880	0.587|0.042	T|T	0.72747|0.72747	-0.4200|-0.4200	8|9	0.62326|0.52906	D|T	0.03|0.07	-8.7525|-8.7525	6.9992|6.9992	0.24799|0.24799	0.8104:0.0:0.1896:0.0|0.8104:0.0:0.1896:0.0	.|.	146|170	Q2QL34-2|Q2QL34	.|MP17L_HUMAN	V|C	146|170	ENSP00000287594:E146V|ENSP00000379669:S170C	ENSP00000287594:E146V|ENSP00000379669:S170C	E|S	+|+	2|1	0|0	MPV17L|MPV17L	15409387|15409387	1.000000|1.000000	0.71417|0.71417	0.781000|0.781000	0.31783|0.31783	0.752000|0.752000	0.42762|0.42762	3.235000|3.235000	0.51328|0.51328	0.332000|0.332000	0.23536|0.23536	0.386000|0.386000	0.25728|0.25728	GAG|AGT		0.488	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1		NM_173803	
MTERF2	80298	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	107371722	107371722	+	Silent	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:107371722T>C	ENST00000552029.1	-	2	2839	c.771A>G	c.(769-771)caA>caG	p.Q257Q	MTERFD3_ENST00000240050.4_Silent_p.Q257Q|MTERFD3_ENST00000392830.2_Silent_p.Q257Q|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTEF2_HUMAN		257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)	p.Q257Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTGGGCAAAGTTGAAAAAGAA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	66.0	64.0					12																	107371722		2203	4299	6502	SO:0001819	synonymous_variant	80298																														ENST00000552029.1:c.771A>G	12.37:g.107371722T>C			Q53HM2|Q9H4L6|Q9H7Y9	Silent	SNP	ENST00000552029.1	37	CCDS9111.1																																																																																				0.373	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			
MUC4	4585	hgsc.bcm.edu	37	3	195505746	195505746	+	Silent	SNP	T	T	G	rs369426870		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:195505746T>G	ENST00000463781.3	-	2	13164	c.12705A>C	c.(12703-12705)acA>acC	p.T4235T	MUC4_ENST00000475231.1_Silent_p.T4235T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	992					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATACTG	0.587																																																	0								T	,,	12,4206		0,12,2097	48.0	48.0	48.0		,12705,	2.3	0.3	3		48	120,8280		1,118,4081	no	intron,coding-synonymous,intron	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	,,	1,130,6178	GG,GT,TT		1.4286,0.2845,1.0461	,,	,4235/5413,	195505746	132,12486	2109	4200	6309	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12705A>C	3.37:g.195505746T>G			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	3.587	-0.084433	0.07097	0.002845	0.014286	ENSG00000145113	ENST00000392409	.	.	.	2.31	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.25916	N	0.983177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.531	0.22326	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC4	196990525	0.008000	0.16893	0.260000	0.24451	0.033000	0.12548	0.285000	0.18883	1.300000	0.44818	0.482000	0.46254	.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUS81	80198	broad.mit.edu	37	11	65629418	65629418	+	Splice_Site	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:65629418G>C	ENST00000308110.4	+	4	701	c.352G>C	c.(352-354)Gtt>Ctt	p.V118L	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Splice_Site_p.V43L|CFL1_ENST00000531413.1_5'Flank|CFL1_ENST00000525451.2_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	118					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V118L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		TACCTTTCAGGTTCCTGCCCA	0.572								Homologous recombination																																									1	Substitution - Missense(1)	kidney(1)											27.0	24.0	25.0					11																	65629418		2196	4297	6493	SO:0001630	splice_region_variant	80198				CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.352-1G>C	11.37:g.65629418G>C			Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.634687|1.634687	0.29068|0.29068	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000529374;ENST00000530111|ENST00000529857;ENST00000533035;ENST00000308110;ENST00000437855;ENST00000525768	.|T;T;T;T	.|0.31769	.|1.48;2.57;2.78;1.91	4.97|4.97	0.402|0.402	0.16344|0.16344	.|.	.|1.544010	.|0.03444	.|N	.|0.209656	T|T	0.21227|0.21227	0.0511|0.0511	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.12837	.|0.008	T|T	0.17745|0.17745	-1.0359|-1.0359	5|10	.|0.07990	.|T	.|0.79	-0.1749|-0.1749	7.6128|7.6128	0.28139|0.28139	0.4553:0.0:0.5447:0.0|0.4553:0.0:0.5447:0.0	.|.	.|118	.|Q96NY9	.|MUS81_HUMAN	T|L	42;13|183;43;118;118;43	.|ENSP00000431979:V183L;ENSP00000432287:V43L;ENSP00000307853:V118L;ENSP00000431478:V43L	.|ENSP00000307853:V118L	S|V	+|+	2|1	0|0	MUS81|MUS81	65385994|65385994	0.377000|0.377000	0.25106|0.25106	0.006000|0.006000	0.13384|0.13384	0.266000|0.266000	0.26442|0.26442	0.344000|0.344000	0.19962|0.19962	0.117000|0.117000	0.18138|0.18138	0.561000|0.561000	0.74099|0.74099	AGT|GTT		0.572	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3		NM_025128	Missense_Mutation
MUT	4594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49425564	49425564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:49425564delT	ENST00000274813.3	-	3	720	c.593delA	c.(592-594)aatfs	p.N198fs		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	198					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTATAAAATTTGCAAGAAC	0.338																																																	0													65.0	63.0	63.0					6																	49425564		2203	4300	6503	SO:0001589	frameshift_variant	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.593delA	6.37:g.49425564delT	ENSP00000274813:p.Asn198fs		A8K953|Q5SYZ3|Q96B11|Q9UD64	Frame_Shift_Del	DEL	ENST00000274813.3	37	CCDS4924.1																																																																																				0.338	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			
MYBPC2	4606	broad.mit.edu	37	19	50962223	50962223	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:50962223G>A	ENST00000357701.5	+	22	2606	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	852	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R852H(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACCTACATCCGCAAAGTGGGC	0.697																																																	1	Substitution - Missense(1)	kidney(1)											21.0	27.0	25.0					19																	50962223		2014	4221	6235	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2555G>A	19.37:g.50962223G>A	ENSP00000350332:p.Arg852His		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	16.43	3.121337	0.56613	.	.	ENSG00000086967	ENST00000357701	T	0.66995	-0.24	4.01	4.01	0.46588	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.505595	0.13386	U	0.391790	T	0.66819	0.2828	M	0.88241	2.94	0.31567	N	0.6568	P	0.34800	0.469	B	0.31686	0.134	T	0.70766	-0.4783	10	0.36615	T	0.2	.	6.6699	0.23062	0.2134:0.0:0.7866:0.0	.	852	Q14324	MYPC2_HUMAN	H	852	ENSP00000350332:R852H	ENSP00000350332:R852H	R	+	2	0	MYBPC2	55654035	0.246000	0.23909	0.993000	0.49108	0.609000	0.37215	0.754000	0.26390	1.967000	0.57214	0.457000	0.33378	CGC		0.697	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		NM_004533	
N4BP1	9683	hgsc.bcm.edu;ucsc.edu	37	16	48595915	48595918	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	TGTT	TGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr16:48595915_48595918delTGTT	ENST00000262384.3	-	2	872_875	c.636_639delAACA	c.(634-639)caaacafs	p.QT212fs	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	212					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTGTAAACTCTGTTTGTTGAGAAT	0.407																																																	0																																										SO:0001589	frameshift_variant	9683			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.636_639delAACA	16.37:g.48595919_48595922delTGTT	ENSP00000262384:p.Gln212fs		A7MD49|Q2YDX1	Frame_Shift_Del	DEL	ENST00000262384.3	37	CCDS45479.1																																																																																				0.407	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1		NM_014664	
NACA	4666	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57112266	57112266	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:57112266A>G	ENST00000454682.1	-	3	3329	c.3048T>C	c.(3046-3048)ccT>ccC	p.P1016P	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1016	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGAGGGAGGAGTCACAG	0.647			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													31.0	37.0	35.0					12																	57112266		1541	3541	5082	SO:0001819	synonymous_variant	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3048T>C	12.37:g.57112266A>G				Silent	SNP	ENST00000454682.1	37																																																																																					0.647	NACA-201	KNOWN	basic	protein_coding	protein_coding			NM_005594	
NBEAL2	23218	broad.mit.edu	37	3	47038048	47038048	+	Silent	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:47038048G>A	ENST00000450053.3	+	16	2618	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.L813L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	813					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L813L(1)|p.L374L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGAAGCCCTGCAGGCGACGG	0.662																																																	2	Substitution - coding silent(2)	kidney(2)											11.0	13.0	12.0					3																	47038048		2065	4183	6248	SO:0001819	synonymous_variant	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2439G>A	3.37:g.47038048G>A			O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223531	0.09863	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.58	3.66	0.41972	.	.	.	.	.	T	0.63931	0.2553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62324	-0.6878	4	.	.	.	.	12.8914	0.58073	0.0:0.0:0.8376:0.1624	.	.	.	.	Y	285	.	.	C	+	2	0	NBEAL2	47013052	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	1.308000	0.33528	2.367000	0.80283	0.462000	0.41574	TGC		0.662	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		XM_291064	
NLRX1	79671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119045325	119045325	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:119045325C>T	ENST00000409109.1	+	6	1600	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	NLRX1_ENST00000525863.1_Missense_Mutation_p.S338L|NLRX1_ENST00000292199.2_Missense_Mutation_p.S338L|NLRX1_ENST00000409991.1_Missense_Mutation_p.S338L|NLRX1_ENST00000409265.4_Missense_Mutation_p.S338L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	338	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.S338L(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTTGGCGGTTCAGGTGTCTCT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											106.0	100.0	102.0					11																	119045325		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1013C>T	11.37:g.119045325C>T	ENSP00000387334:p.Ser338Leu		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	6.268	0.417582	0.11870	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.71698	-0.52;-0.52;-0.59;-0.52;-0.59	5.59	4.49	0.54785	.	0.871981	0.10051	N	0.722201	T	0.50922	0.1644	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.005	B;B	0.12837	0.008;0.002	T	0.29243	-1.0018	10	0.35671	T	0.21	.	10.2524	0.43377	0.0:0.8961:0.0:0.1039	.	338;338	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	338	ENSP00000386851:S338L;ENSP00000292199:S338L;ENSP00000386858:S338L;ENSP00000387334:S338L;ENSP00000433442:S338L	ENSP00000292199:S338L	S	+	2	0	NLRX1	118550535	0.000000	0.05858	0.006000	0.13384	0.047000	0.14425	0.405000	0.21015	2.644000	0.89710	0.655000	0.94253	TCA		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1		NM_170722	
OPRL1	4987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62729653	62729653	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:62729653C>T	ENST00000349451.3	+	6	1026	c.614C>T	c.(613-615)cCt>cTt	p.P205L	OPRL1_ENST00000355631.4_Missense_Mutation_p.P205L|OPRL1_ENST00000336866.2_Missense_Mutation_p.P205L	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	205					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.P205L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGGAGATCCCTACCCCTCAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											216.0	172.0	187.0					20																	62729653		2203	4297	6500	SO:0001583	missense	4987				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.614C>T	20.37:g.62729653C>T	ENSP00000336764:p.Pro205Leu		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838364	0.71373	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.36878	1.23;1.23;1.23	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74748	-0.3560	10	0.87932	D	0	.	17.6656	0.88202	0.0:1.0:0.0:0.0	.	200;205	P41146-2;P41146	.;OPRX_HUMAN	L	205	ENSP00000336843:P205L;ENSP00000347848:P205L;ENSP00000336764:P205L	ENSP00000336843:P205L	P	+	2	0	OPRL1	62200097	1.000000	0.71417	0.913000	0.36048	0.349000	0.29174	7.637000	0.83313	2.166000	0.68216	0.555000	0.69702	CCT		0.617	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1		NM_182647	
PARP12	64761	broad.mit.edu;ucsc.edu	37	7	139754561	139754561	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:139754561delT	ENST00000263549.3	-	4	1636	c.763delA	c.(763-765)agafs	p.R255fs		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	255						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTGTCTTTTCTTTCTGCAAAG	0.423																																																	0													109.0	99.0	102.0					7																	139754561		2203	4300	6503	SO:0001589	frameshift_variant	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.763delA	7.37:g.139754561delT	ENSP00000263549:p.Arg255fs		Q9H610|Q9NP36|Q9NTI3	Frame_Shift_Del	DEL	ENST00000263549.3	37	CCDS5857.1																																																																																				0.423	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1		NM_022750	
PHLDB3	653583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43999463	43999463	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:43999463C>T	ENST00000292140.5	-	8	1340	c.980G>A	c.(979-981)tGc>tAc	p.C327Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	327							enzyme binding (GO:0019899)	p.C327Y(1)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCCCTGAAGGCAATTGAGCTC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											44.0	48.0	46.0					19																	43999463		1992	4158	6150	SO:0001583	missense	653583				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.980G>A	19.37:g.43999463C>T	ENSP00000292140:p.Cys327Tyr		Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.536040	0.00942	.	.	ENSG00000176531	ENST00000292140	T	0.43294	0.95	3.85	-1.03	0.10102	.	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.005;0.006	B;B	0.10450	0.005;0.004	T	0.30001	-0.9993	9	0.02654	T	1	.	2.7623	0.05310	0.2053:0.3984:0.0:0.3963	.	31;327	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	327	ENSP00000292140:C327Y	ENSP00000292140:C327Y	C	-	2	0	PHLDB3	48691303	0.000000	0.05858	0.010000	0.14722	0.097000	0.18754	-0.458000	0.06737	-0.078000	0.12730	0.585000	0.79938	TGC		0.557	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			
PLEKHA2	59339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38775521	38775521	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:38775521T>A	ENST00000521746.1	+	2	308	c.74T>A	c.(73-75)tTt>tAt	p.F25Y	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Missense_Mutation_p.F25Y			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	25	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)	p.F25Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			AGCGGCAAGTTTCTGCGGAGG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											117.0	120.0	119.0					8																	38775521		2061	4221	6282	SO:0001583	missense	59339			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"""Pleckstrin homology (PH) domain containing"""	14336	protein-coding gene	gene with protein product	"""tandem PH Domain containing protein-2"""	607773	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"""			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.74T>A	8.37:g.38775521T>A	ENSP00000430938:p.Phe25Tyr			Missense_Mutation	SNP	ENST00000521746.1	37		.	.	.	.	.	.	.	.	.	.	T	32	5.106794	0.94292	.	.	ENSG00000169499	ENST00000521746;ENST00000420274;ENST00000519640	T;T;T	0.74002	-0.8;-0.8;-0.8	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84710	0.5532	M	0.67397	2.05	0.80722	D	1	D	0.61697	0.99	D	0.77557	0.99	D	0.86393	0.1737	10	0.72032	D	0.01	.	15.3992	0.74823	0.0:0.0:0.0:1.0	.	25	A8K727	.	Y	25	ENSP00000430938:F25Y;ENSP00000393860:F25Y;ENSP00000429956:F25Y	ENSP00000393860:F25Y	F	+	2	0	PLEKHA2	38894678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.246000	0.72405	2.045000	0.60652	0.514000	0.50259	TTT		0.567	PLEKHA2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000377068.1		NM_021623	
PNMA3	29944	broad.mit.edu	37	X	152226515	152226515	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chrX:152226515T>C	ENST00000370264.4	+	1	1129	c.1103T>C	c.(1102-1104)cTc>cCc	p.L368P	PNMA3_ENST00000447306.1_Missense_Mutation_p.L368P|PNMA3_ENST00000370265.4_Missense_Mutation_p.L368P			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	368					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L368P(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTACCTCTCCCTGCCTCT	0.637																																																	2	Substitution - Missense(2)	kidney(2)											27.0	30.0	29.0					X																	152226515		2203	4300	6503	SO:0001583	missense	29944			AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.1103T>C	X.37:g.152226515T>C	ENSP00000359286:p.Leu368Pro		D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	t	4.702	0.130591	0.08981	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.17370	2.29;2.28;2.28	2.05	-4.09	0.03951	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.31280	-0.9949	9	0.35671	T	0.21	.	1.0175	0.01510	0.198:0.153:0.398:0.251	.	368	Q9UL41	PNMA3_HUMAN	P	368	ENSP00000359288:L368P;ENSP00000407642:L368P;ENSP00000359286:L368P	ENSP00000359286:L368P	L	+	2	0	PNMA3	151977171	0.014000	0.17966	0.000000	0.03702	0.011000	0.07611	0.597000	0.24059	-1.393000	0.02079	-0.763000	0.03452	CTC		0.637	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2		NM_013364	
POLR2B	5431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57876947	57876947	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr4:57876947T>G	ENST00000381227.1	+	13	1995	c.1582T>G	c.(1582-1584)Ttg>Gtg	p.L528V	POLR2B_ENST00000314595.5_Missense_Mutation_p.L528V|POLR2B_ENST00000431623.2_Missense_Mutation_p.L453V|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000441246.2_Missense_Mutation_p.L521V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	528					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.L528V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GAATTTAGCCTTGATGGCGTA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											123.0	129.0	127.0					4																	57876947		2203	4298	6501	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1582T>G	4.37:g.57876947T>G	ENSP00000370625:p.Leu528Val		A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.779021	0.49891	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.64	2.98	0.34508	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	L	0.53561	1.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81086	-0.1092	10	0.87932	D	0	.	8.3866	0.32503	0.0:0.6982:0.0:0.3018	.	453;528	C9J4M6;P30876	.;RPB2_HUMAN	V	528;453;521;528	ENSP00000370625:L528V;ENSP00000391096:L453V;ENSP00000391452:L521V;ENSP00000312735:L528V	ENSP00000312735:L528V	L	+	1	2	POLR2B	57571704	0.833000	0.29383	0.446000	0.26920	0.496000	0.33645	1.650000	0.37292	0.327000	0.23409	-0.248000	0.11899	TTG		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1		NM_000938	
PPFIA1	8500	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	70201888	70201888	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:70201888G>A	ENST00000253925.7	+	18	2674	c.2459G>A	c.(2458-2460)gGa>gAa	p.G820E	AP000487.6_ENST00000528607.1_RNA|AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.G820E	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	820					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.G820E(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCGACCTGGACAAACTGGC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											96.0	99.0	98.0					11																	70201888		2200	4294	6494	SO:0001583	missense	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2459G>A	11.37:g.70201888G>A	ENSP00000253925:p.Gly820Glu		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.96|12.96|12.96	2.094190|2.094190|2.094190	0.36952|0.36952|0.36952	.|.|.	.|.|.	ENSG00000131626|ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000253925;ENST00000389547;ENST00000544950|ENST00000530798	.|T;T|.	.|0.17691|.	.|2.26;2.26|.	5.3|5.3|5.3	4.39|4.39|4.39	0.52855|0.52855|0.52855	.|.|.	.|0.138957|.	.|0.49305|.	.|U|.	.|0.000160|.	T|T|.	0.66684|0.66684|.	0.2814|0.2814|.	L|L|L	0.48642|0.48642|0.48642	1.525|1.525|1.525	0.41796|0.41796|0.41796	D|D|D	0.989896|0.989896|0.989896	.|B;B|.	.|0.25904|.	.|0.137;0.136|.	.|B;B|.	.|0.29524|.	.|0.103;0.073|.	T|T|.	0.65405|0.65405|.	-0.6176|-0.6176|.	5|10|.	.|0.56958|.	.|D|.	.|0.05|.	.|.|.	16.3581|16.3581|16.3581	0.83244|0.83244|0.83244	0.0:0.1321:0.8679:0.0|0.0:0.1321:0.8679:0.0|0.0:0.1321:0.8679:0.0	.|.|.	.|820;820|.	.|Q13136;Q13136-2|.	.|LIPA1_HUMAN;.|.	N|E|X	263|820;820;317|212	.|ENSP00000253925:G820E;ENSP00000374198:G820E|.	.|ENSP00000253925:G820E|.	D|G|W	+|+|+	1|2|3	0|0|0	PPFIA1|PPFIA1|PPFIA1	69879536|69879536|69879536	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.104000|0.104000|0.104000	0.21259|0.21259|0.21259	0.036000|0.036000|0.036000	0.12997|0.12997|0.12997	6.278000|6.278000|6.278000	0.72614|0.72614|0.72614	1.371000|1.371000|1.371000	0.46172|0.46172|0.46172	-0.165000|-0.165000|-0.165000	0.13383|0.13383|0.13383	GAC|GGA|TGG		0.542	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626	
PRLR	5618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35065723	35065723	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:35065723G>A	ENST00000382002.5	-	10	1763	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	PRLR_ENST00000342362.5_Missense_Mutation_p.A345V|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.A345V	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	446					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.A446V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGTGGCCGGTGCACCTGCAGG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											94.0	100.0	98.0					5																	35065723		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1337C>T	5.37:g.35065723G>A	ENSP00000371432:p.Ala446Val		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	4.253	0.045986	0.08243	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.72282	-0.64;-0.64;-0.64	5.16	3.29	0.37713	.	0.784106	0.12522	N	0.461585	T	0.50888	0.1642	N	0.16602	0.42	0.09310	N	1	B;B	0.22800	0.004;0.075	B;B	0.22386	0.013;0.039	T	0.23547	-1.0185	10	0.18710	T	0.47	-1.4278	8.8858	0.35402	0.125:0.2423:0.6327:0.0	.	446;345	P16471;P16471-2	PRLR_HUMAN;.	V	345;446;345	ENSP00000339213:A345V;ENSP00000371432:A446V;ENSP00000422556:A345V	ENSP00000339213:A345V	A	-	2	0	PRLR	35101480	0.000000	0.05858	0.006000	0.13384	0.011000	0.07611	0.562000	0.23531	2.690000	0.91761	0.655000	0.94253	GCA		0.507	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			
PRPF4B	8899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	4032532	4032532	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:4032532G>T	ENST00000337659.6	+	2	881	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	PRPF4B_ENST00000538861.1_Missense_Mutation_p.D247Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	261	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D261Y(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCCTACTGATGATAAGGTTAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											107.0	117.0	114.0					6																	4032532		2203	4300	6503	SO:0001583	missense	8899			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.781G>T	6.37:g.4032532G>T	ENSP00000337194:p.Asp261Tyr		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149477	0.57151	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69040	-0.37;-0.36	5.91	5.04	0.67666	.	0.234178	0.36303	N	0.002674	T	0.41213	0.1149	N	0.22421	0.69	0.40983	D	0.984794	B	0.31790	0.34	B	0.33890	0.172	T	0.48714	-0.9011	10	0.48119	T	0.1	.	14.9942	0.71418	0.068:0.0:0.932:0.0	.	261	Q13523	PRP4B_HUMAN	Y	261;247	ENSP00000337194:D261Y;ENSP00000439331:D247Y	ENSP00000337194:D261Y	D	+	1	0	PRPF4B	3977531	1.000000	0.71417	0.248000	0.24265	0.981000	0.71138	5.992000	0.70609	1.494000	0.48533	0.655000	0.94253	GAT		0.353	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			
PRR11	55771	hgsc.bcm.edu;ucsc.edu	37	17	57262419	57262419	+	Missense_Mutation	SNP	G	G	C	rs114400215	byFrequency	TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:57262419G>C	ENST00000262293.4	+	3	445	c.133G>C	c.(133-135)Ggt>Cgt	p.G45R		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	45						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTACAGAGTCGGTATTTCTTC	0.383																																																	0													63.0	68.0	66.0					17																	57262419		2202	4300	6502	SO:0001583	missense	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.133G>C	17.37:g.57262419G>C	ENSP00000262293:p.Gly45Arg		Q9NUZ7|Q9NXE9	Missense_Mutation	SNP	ENST00000262293.4	37	CCDS11614.1	.	.	.	.	.	.	.	.	.	.	G	1.066	-0.671517	0.03403	.	.	ENSG00000068489	ENST00000262293	.	.	.	5.67	0.837	0.18896	.	0.699968	0.12932	N	0.427319	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.21586	-1.0241	9	0.66056	D	0.02	-0.3637	9.3052	0.37870	0.2807:0.0:0.7193:0.0	.	45	Q96HE9	PRR11_HUMAN	R	45	.	ENSP00000262293:G45R	G	+	1	0	PRR11	54617201	0.022000	0.18835	0.055000	0.19348	0.005000	0.04900	0.038000	0.13862	0.230000	0.21059	-1.076000	0.02234	GGT		0.383	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1		NM_018304	
RPL18A	6142	broad.mit.edu;hgsc.bcm.edu	37	19	17972160	17972160	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:17972160C>A	ENST00000222247.5	+	2	158	c.77C>A	c.(76-78)cCc>cAc	p.P26H	RPL18A_ENST00000599870.1_5'UTR|RPL18A_ENST00000600147.1_Missense_Mutation_p.P26H|RPL18A_ENST00000599898.1_Intron|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	26					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P26H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CACACGCCGCCCCTCTACCGC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											53.0	51.0	52.0					19																	17972160		2203	4296	6499	SO:0001583	missense	6142			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.77C>A	19.37:g.17972160C>A	ENSP00000222247:p.Pro26His			Missense_Mutation	SNP	ENST00000222247.5	37	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	c	15.85	2.954734	0.53293	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	3.94	3.94	0.45596	Ribosomal protein L18a/LX (1);	0.000000	0.85682	U	0.000000	T	0.81113	0.4755	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.85763	0.1350	9	0.87932	D	0	.	13.8461	0.63468	0.0:1.0:0.0:0.0	.	26	Q02543	RL18A_HUMAN	H	26	.	ENSP00000222247:P26H	P	+	2	0	RPL18A	17833160	1.000000	0.71417	0.035000	0.18076	0.059000	0.15707	7.562000	0.82300	1.930000	0.55929	0.558000	0.71614	CCC		0.547	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1		NM_000980	
RUFY4	285180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	218954028	218954028	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:218954028A>C	ENST00000344321.7	+	12	2074	c.1556A>C	c.(1555-1557)gAg>gCg	p.E519A	RUFY4_ENST00000374155.3_Missense_Mutation_p.E539A|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	519							metal ion binding (GO:0046872)	p.E519A(1)|p.E539A(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGGCTCCCGAGTGCTGTGTG	0.567																																																	2	Substitution - Missense(2)	kidney(2)											64.0	67.0	66.0					2																	218954028		1969	4152	6121	SO:0001583	missense	285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1556A>C	2.37:g.218954028A>C	ENSP00000345900:p.Glu519Ala		Q6ZR96	Missense_Mutation	SNP	ENST00000344321.7	37		.	.	.	.	.	.	.	.	.	.	G	8.685	0.906052	0.17760	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.76060	-0.99;0.9	4.92	4.03	0.46877	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.124327	0.36628	N	0.002495	T	0.47801	0.1465	N	0.05330	-0.07	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.28744	-1.0034	10	0.09338	T	0.73	-8.3588	6.8517	0.24018	0.094:0.1758:0.7303:0.0	.	519	Q6ZNE9	RUFY4_HUMAN	A	519;539	ENSP00000345900:E519A;ENSP00000363270:E539A	ENSP00000345900:E519A	E	+	2	0	RUFY4	218662273	0.010000	0.17322	0.006000	0.13384	0.145000	0.21501	0.587000	0.23909	0.678000	0.31325	-0.227000	0.12334	GAG		0.567	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_198483	
SAMD9	54809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	92732506	92732506	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:92732506T>G	ENST00000379958.2	-	3	3174	c.2905A>C	c.(2905-2907)Aaa>Caa	p.K969Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	969						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.K969Q(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTCTGTTTTTATCAGAATT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											123.0	120.0	121.0					7																	92732506		2203	4300	6503	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2905A>C	7.37:g.92732506T>G	ENSP00000369292:p.Lys969Gln		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	4.000	-0.002772	0.07819	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.21734	1.99;2.79	4.88	1.03	0.20045	.	1.317040	0.05150	N	0.495796	T	0.12178	0.0296	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.28396	-1.0045	10	0.27082	T	0.32	-4.9029	5.7835	0.18320	0.2308:0.0:0.4118:0.3573	.	969	Q5K651	SAMD9_HUMAN	Q	969	ENSP00000369292:K969Q;ENSP00000414529:K969Q	ENSP00000369292:K969Q	K	-	1	0	SAMD9	92570442	0.000000	0.05858	0.975000	0.42487	0.790000	0.44656	0.331000	0.19733	0.863000	0.35553	0.496000	0.49642	AAA		0.398	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1		NM_017654	
SEPHS1	22929	broad.mit.edu;hgsc.bcm.edu	37	10	13386847	13386848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:13386847_13386848insG	ENST00000327347.5	-	2	478_479	c.103_104insC	c.(103-105)caafs	p.Q35fs	SEPHS1_ENST00000545675.1_Frame_Shift_Ins_p.Q35fs|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Frame_Shift_Ins_p.Q35fs	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	35					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CAGGACATCTTGGGGCACTTTG	0.495																																																	0																																										SO:0001589	frameshift_variant	22929			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.104dupC	10.37:g.13386851_13386851dupG	ENSP00000367893:p.Gln35fs		B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Frame_Shift_Ins	INS	ENST00000327347.5	37	CCDS7098.1																																																																																				0.495	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1		NM_012247	
SEC24C	9632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75520026	75520026	+	Silent	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr10:75520026C>T	ENST00000339365.2	+	6	894	c.732C>T	c.(730-732)ccC>ccT	p.P244P	SEC24C_ENST00000546025.1_Silent_p.P102P|SEC24C_ENST00000345254.4_Silent_p.P244P|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Silent_p.P102P|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	244					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.P244P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGAGCCAGCCCAACCATGTGT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	82.0	80.0					10																	75520026		2203	4300	6503	SO:0001819	synonymous_variant	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.732C>T	10.37:g.75520026C>T			B4DZT4|Q8WV25	Silent	SNP	ENST00000339365.2	37	CCDS7332.1																																																																																				0.642	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			
SERINC4	619189	broad.mit.edu;hgsc.bcm.edu	37	15	44087848	44087848	+	Intron	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr15:44087848G>T	ENST00000319327.6	-	10	1424				SERINC4_ENST00000299969.6_Intron|MIR1282_ENST00000408865.1_RNA|HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERINC4_ENST00000249714.3_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4						phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		ACTCCACAGAGATCTACCACT	0.512																																																	0													129.0	126.0	127.0					15																	44087848		2198	4298	6496	SO:0001627	intron_variant	10169			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1189+37C>A	15.37:g.44087848G>T			B2RN41|Q3YL75	RNA	SNP	ENST00000319327.6	37	CCDS58360.1																																																																																				0.512	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			
SEZ6L	23544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26743810	26743810	+	Missense_Mutation	SNP	G	G	A	rs375640180		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:26743810G>A	ENST00000248933.6	+	11	2433	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M	SEZ6L_ENST00000343706.4_Missense_Mutation_p.V780M|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000529632.2_Missense_Mutation_p.V780M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V780M|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V553M|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V780M			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	780	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.V780M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTATGACATCGTGGGGAGTGA	0.552																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	84.0	81.0	82.0		2338,2338,2338,2338,2338,2338	4.8	1.0	22		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	21,21,21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	780/1024,780/1014,780/1012,780/950,780/949,780/1025	26743810	1,13005	2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2338G>A	22.37:g.26743810G>A	ENSP00000248933:p.Val780Met		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165631	0.78339	0.0	1.16E-4	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	4.84	4.84	0.62591	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.50627	D	0.000111	T	0.80934	0.4719	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;1.0;1.0	D	0.83940	0.0311	10	0.72032	D	0.01	.	17.1206	0.86701	0.0:0.0:1.0:0.0	.	780;780;553;780;780;780;780	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	M	780;780;780;780;780;553;553	ENSP00000384772:V780M;ENSP00000437037:V780M;ENSP00000354185:V780M;ENSP00000248933:V780M;ENSP00000342661:V780M;ENSP00000384838:V553M;ENSP00000384733:V553M	ENSP00000248933:V780M	V	+	1	0	SEZ6L	25073810	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.089000	0.94137	2.520000	0.84964	0.655000	0.94253	GTG		0.552	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			
SFRP4	6424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	37955990	37955990	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:37955990C>A	ENST00000436072.2	-	1	527	c.150G>T	c.(148-150)acG>acT	p.T50T	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	50	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T50T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGTTCTCCTGCGTGCTGTGGT	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	128.0	139.0					7																	37955990		2203	4300	6503	SO:0001819	synonymous_variant	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.150G>T	7.37:g.37955990C>A			B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	ENST00000436072.2	37	CCDS5453.1																																																																																				0.667	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2		NM_003014	
KIAA0100	9703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	26940338	26940338	+	IGR	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:26940338G>C	ENST00000528896.2	-	0	7407				SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SGK494_ENST00000301037.5_Missense_Mutation_p.S117C|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_Missense_Mutation_p.S117C|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)		p.S117C(2)|p.S156C(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTTCCAAAGGAGCCTTTAGC	0.473											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					3	Substitution - Missense(3)	kidney(3)											79.0	75.0	77.0					17																	26940338		2203	4300	6503	SO:0001628	intergenic_variant	124923			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26940338G>C		790	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227411	0.79576	.	.	ENSG00000258472;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524;ENSG00000167524	ENST00000531839;ENST00000378976;ENST00000481916;ENST00000301037;ENST00000534850;ENST00000530121	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.131804	0.52532	D	0.000070	T	0.33614	0.0869	M	0.72118	2.19	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.05194	-1.0900	10	0.87932	D	0	-9.484	16.8076	0.85709	0.0:0.0:1.0:0.0	.	117;117	E9PMD0;Q96LW2	.;SG494_HUMAN	C	117	ENSP00000431165:S117C;ENSP00000436369:S117C;ENSP00000301037:S117C;ENSP00000437573:S117C;ENSP00000434603:S117C	ENSP00000301037:S117C	S	-	2	0	AC005726.6;RP11-192H23.4	23964465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.516000	0.90552	2.480000	0.83734	0.561000	0.74099	TCC		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680	
SH2D3A	10045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6760899	6760899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:6760899delC	ENST00000245908.6	-	3	438	c.169delG	c.(169-171)gccfs	p.A57fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	57	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AAATGGAGGGCTGAGCCCCGC	0.637																																																	0													38.0	38.0	38.0					19																	6760899		2203	4299	6502	SO:0001589	frameshift_variant	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.169delG	19.37:g.6760899delC	ENSP00000245908:p.Ala57fs		A8K9R6|B4DRS7|Q9Y2X4	Frame_Shift_Del	DEL	ENST00000245908.6	37	CCDS12173.1																																																																																				0.637	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1		NM_005490	
SHMT2	6472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57626066	57626066	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:57626066delT	ENST00000328923.3	+	5	1037	c.585delT	c.(583-585)tatfs	p.Y195fs	SHMT2_ENST00000393827.4_Frame_Shift_Del_p.I90fs|SHMT2_ENST00000414700.3_Frame_Shift_Del_p.Y174fs|SHMT2_ENST00000557487.1_Frame_Shift_Del_p.Y195fs|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Frame_Shift_Del_p.Y174fs|SHMT2_ENST00000553474.1_Frame_Shift_Del_p.Y174fs	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	195					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	CTATGCCCTATAAGCTCAACG	0.597																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													152.0	127.0	136.0					12																	57626066		2203	4300	6503	SO:0001589	frameshift_variant	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.585delT	12.37:g.57626066delT	ENSP00000333667:p.Tyr195fs		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Frame_Shift_Del	DEL	ENST00000328923.3	37	CCDS8934.1																																																																																				0.597	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2		NM_005412	
SIGLEC9	27180	broad.mit.edu;ucsc.edu	37	19	51628430	51628430	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr19:51628430A>C	ENST00000250360.3	+	1	266	c.199A>C	c.(199-201)Aat>Cat	p.N67H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.N67H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	67	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N67H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAAGGGGCCAATACAGACCA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											100.0	84.0	90.0					19																	51628430		2203	4300	6503	SO:0001583	missense	27180			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.199A>C	19.37:g.51628430A>C	ENSP00000250360:p.Asn67His		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	2.803	-0.248647	0.05867	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.67345	-0.26;-0.26	2.88	-5.77	0.02369	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.681520	0.02182	N	0.060553	T	0.50017	0.1591	L	0.35414	1.06	0.09310	N	1	B	0.12013	0.005	B	0.15870	0.014	T	0.24476	-1.0159	10	0.45353	T	0.12	.	2.4509	0.04517	0.4584:0.118:0.307:0.1167	.	67	Q9Y336	SIGL9_HUMAN	H	67	ENSP00000413861:N67H;ENSP00000250360:N67H	ENSP00000250360:N67H	N	+	1	0	SIGLEC9	56320242	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.020000	0.00159	-2.473000	0.00528	-2.291000	0.00267	AAT		0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1		NM_014441	
SIRPA	140885	hgsc.bcm.edu	37	20	1896052	1896054	+	In_Frame_Del	DEL	CGA	CGA	-	rs139878822|rs202172737	byFrequency	TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	CGA	CGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:1896052_1896054delCGA	ENST00000358771.4	+	2	539_541	c.387_389delCGA	c.(385-390)cccgat>cct	p.D131del	SIRPA_ENST00000400068.3_In_Frame_Del_p.D131del|SIRPA_ENST00000356025.3_In_Frame_Del_p.D131del	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	131	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D131delD(2)|p.D130A(1)|p.P129P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		AAGGGAGCCCCGATGACGTGGAG	0.527														1950	0.389377	0.264	0.4063	5008	,	,		16040	0.5933		0.2932	False		,,,				2504	0.4356				GBM(155;1668 1920 5945 42733 48121)												4	Deletion - In frame(2)|Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)							,,	1147,3105		167,813,1146					,,	2.0	0.0		dbSNP_134	106	2654,5494		452,1750,1872	no	coding,coding,coding	SIRPA	NM_080792.2,NM_001040023.1,NM_001040022.1	,,	619,2563,3018	A1A1,A1R,RR		32.5724,26.9755,30.6532	,,	,,		3801,8599				SO:0001651	inframe_deletion	140885			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.387_389delCGA	20.37:g.1896052_1896054delCGA	ENSP00000351621:p.Asp131del		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	In_Frame_Del	DEL	ENST00000358771.4	37	CCDS13022.1																																																																																				0.527	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2		NM_080792	
SLC15A3	51296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60714170	60714170	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:60714170G>T	ENST00000227880.3	-	2	915	c.682C>A	c.(682-684)Ctg>Atg	p.L228M		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	228					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L228M(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CTGTAGCCCAGCAGGAAGCTG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											106.0	102.0	103.0					11																	60714170		2203	4299	6502	SO:0001583	missense	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.682C>A	11.37:g.60714170G>T	ENSP00000227880:p.Leu228Met		Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	CCDS7998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.563032|3.563032	0.65538|0.65538	.|.	.|.	ENSG00000110446|ENSG00000110446	ENST00000442626|ENST00000227880;ENST00000536491;ENST00000538739	.|T;T;T	.|0.06449	.|3.3;3.3;3.3	4.55|4.55	-1.54|-1.54	0.08584|0.08584	.|Major facilitator superfamily domain, general substrate transporter (1);	.|1.318910	.|0.05341	.|N	.|0.530061	.|T	.|0.16685	.|0.0401	M|M	0.62723|0.62723	1.935|1.935	0.19575|0.19575	N|N	0.999964|0.999964	.|D;P	.|0.53619	.|0.961;0.81	.|P;P	.|0.62740	.|0.906;0.622	.|T	.|0.26985	.|-1.0087	.|10	0.28530|0.48119	T|T	0.3|0.1	-0.0121|-0.0121	5.2514|5.2514	0.15524|0.15524	0.0811:0.4838:0.2273:0.2079|0.0811:0.4838:0.2273:0.2079	.|.	.|228;228	.|F5H1C8;Q8IY34	.|.;S15A3_HUMAN	X|M	227|228;41;95	.|ENSP00000227880:L228M;ENSP00000439535:L41M;ENSP00000441559:L95M	ENSP00000403318:C227X|ENSP00000227880:L228M	C|L	-|-	3|1	2|2	SLC15A3|SLC15A3	60470746|60470746	0.001000|0.001000	0.12720|0.12720	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	-0.232000|-0.232000	0.09055|0.09055	-0.039000|-0.039000	0.13602|0.13602	0.591000|0.591000	0.81541|0.81541	TGC|CTG		0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1		NM_016582	
SLC25A24	29957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	108700179	108700179	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:108700179C>T	ENST00000565488.1	-	5	793	c.574G>A	c.(574-576)Gga>Aga	p.G192R	SLC25A24_ENST00000370041.4_Missense_Mutation_p.G173R	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	192					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.G173R(1)|p.G192R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CACCATTGTCCGGATTTTTTT	0.463																																																	2	Substitution - Missense(2)	kidney(2)											106.0	100.0	102.0					1																	108700179		2203	4300	6503	SO:0001583	missense	29957			AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.574G>A	1.37:g.108700179C>T	ENSP00000457733:p.Gly192Arg		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546854	0.86022	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	T	0.77750	-1.12	5.18	5.18	0.71444	Mitochondrial carrier domain (2);	0.097004	0.64402	D	0.000001	T	0.82204	0.4986	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.65010	0.931;0.887	T	0.80645	-0.1290	10	0.39692	T	0.17	-20.0443	18.0295	0.89278	0.0:1.0:0.0:0.0	.	192;173	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	R	192;173	ENSP00000359058:G173R	ENSP00000264128:G192R	G	-	1	0	SLC25A24	108501702	1.000000	0.71417	0.056000	0.19401	0.752000	0.42762	7.698000	0.84413	2.560000	0.86352	0.585000	0.79938	GGA		0.463	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2		NM_013386	
SLC26A8	116369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	35987387	35987387	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:35987387T>A	ENST00000490799.1	-	2	451	c.98A>T	c.(97-99)gAg>gTg	p.E33V	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E33V|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E33V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.E33V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTGAAAGGTCTCCTCATTGTA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											265.0	194.0	218.0					6																	35987387		2203	4300	6503	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.98A>T	6.37:g.35987387T>A	ENSP00000417638:p.Glu33Val			Missense_Mutation	SNP	ENST00000490799.1	37	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933918	0.73442	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.79	4.79	0.61399	.	0.000000	0.48286	D	0.000187	T	0.25827	0.0629	L	0.34521	1.04	0.35234	D	0.777229	D;P	0.89917	1.0;0.933	D;P	0.85130	0.997;0.854	T	0.05257	-1.0896	10	0.42905	T	0.14	.	10.8857	0.46965	0.0:0.0:0.0:1.0	.	33;33	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	V	33;33;33;119	ENSP00000417638:E33V;ENSP00000378100:E33V;ENSP00000347778:E33V;ENSP00000420488:E119V	ENSP00000347778:E33V	E	-	2	0	SLC26A8	36095365	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	1.956000	0.40382	2.136000	0.66102	0.528000	0.53228	GAG		0.498	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			
SLC45A3	85414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205632093	205632093	+	Missense_Mutation	SNP	C	C	T	rs138897809		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:205632093C>T	ENST00000367145.3	-	3	1121	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	276					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.V276M(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGCTCAGCCACGAAGAGCCGG	0.672			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								C|||	1	0.000199681	0.0	0.0	5008	,	,		17642	0.0		0.0	False		,,,				2504	0.001							Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	1	Substitution - Missense(1)	kidney(1)						C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	31.0	36.0	34.0		826	4.5	1.0	1	dbSNP_134	34	0,8600		0,0,4300	yes	missense	SLC45A3	NM_033102.2	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	276/554	205632093	2,13004	2203	4300	6503	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.826G>A	1.37:g.205632093C>T	ENSP00000356113:p.Val276Met		A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942645	0.73672	4.54E-4	0.0	ENSG00000158715	ENST00000367145	D	0.91996	-2.95	5.37	4.47	0.54385	Major facilitator superfamily domain, general substrate transporter (1);	0.055760	0.64402	D	0.000001	D	0.94049	0.8093	M	0.75777	2.31	0.42181	D	0.991686	D;D	0.69078	0.997;0.997	P;P	0.55112	0.769;0.769	D	0.93957	0.7237	10	0.51188	T	0.08	0.9301	13.9717	0.64245	0.0:0.9262:0.0:0.0738	.	276;276	A8K2U9;Q96JT2	.;S45A3_HUMAN	M	276	ENSP00000356113:V276M	ENSP00000356113:V276M	V	-	1	0	SLC45A3	203898716	0.991000	0.36638	0.978000	0.43139	0.878000	0.50629	2.946000	0.49050	1.274000	0.44362	-0.119000	0.15052	GTG		0.672	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1		NM_033102	
SMAD7	4092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	46474803	46474803	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr18:46474803A>G	ENST00000262158.2	-	2	904	c.618T>C	c.(616-618)tcT>tcC	p.S206S	SMAD7_ENST00000591805.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.S206S	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	206	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|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)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.S206S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GAGGGGGGGGAGACTCTGAAA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	42.0	39.0					18																	46474803		2203	4297	6500	SO:0001819	synonymous_variant	4092			AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"""SMADs"""	6773	protein-coding gene	gene with protein product		602932	"""MAD, mothers against decapentaplegic homolog 7 (Drosophila)"", ""SMAD, mothers against DPP homolog 7 (Drosophila)"""	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.618T>C	18.37:g.46474803A>G			B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	CCDS11936.1																																																																																				0.383	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1		NM_005904	
SNX14	57231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	86256928	86256928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr6:86256928delA	ENST00000314673.3	-	12	1186	c.1010delT	c.(1009-1011)ttgfs	p.L337fs	SNX14_ENST00000369627.2_Frame_Shift_Del_p.L337fs|SNX14_ENST00000505648.1_Frame_Shift_Del_p.L285fs|SNX14_ENST00000513865.1_Frame_Shift_Del_p.L337fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Del_p.L293fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	337	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GATTTGCTTCAATTCTAACTT	0.323																																																	0													85.0	76.0	79.0					6																	86256928		2203	4300	6503	SO:0001589	frameshift_variant	57231			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1010delT	6.37:g.86256928delA	ENSP00000313121:p.Leu337fs		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	ENST00000314673.3	37	CCDS5004.1																																																																																				0.323	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816	
SRC	6714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36024602	36024602	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:36024602C>A	ENST00000373578.2	+	8	940	c.591C>A	c.(589-591)gcC>gcA	p.A197A	SRC_ENST00000445403.1_Silent_p.A197A|SRC_ENST00000358208.4_Silent_p.A197A|SRC_ENST00000373567.2_Silent_p.A197A|SRC_ENST00000360723.4_Silent_p.A203A|SRC_ENST00000373558.2_Silent_p.A203A	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|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 (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.A197A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TCGACAACGCCAAGGGCCTCA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	77.0	79.0					20																	36024602		2203	4300	6503	SO:0001819	synonymous_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.591C>A	20.37:g.36024602C>A			E1P5V4|Q76P87|Q86VB9|Q9H5A8	Silent	SNP	ENST00000373578.2	37	CCDS13294.1																																																																																				0.652	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1		NM_005417	
SCAF11	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46318555	46318555	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:46318555G>T	ENST00000369367.3	-	12	4095	c.3862C>A	c.(3862-3864)Caa>Aaa	p.Q1288K	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q1288K|SCAF11_ENST00000549162.1_Missense_Mutation_p.Q1096K|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q973K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1288					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1288K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TAGTTGACTTGTTGGGATGGT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											71.0	69.0	70.0					12																	46318555		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3862C>A	12.37:g.46318555G>T	ENSP00000358374:p.Gln1288Lys		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724126	0.89298	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.27	5.27	0.74061	.	0.100126	0.44285	D	0.000465	T	0.71584	0.3357	M	0.66939	2.045	0.53688	D	0.999971	D	0.76494	0.999	D	0.70016	0.967	T	0.72513	-0.4270	10	0.54805	T	0.06	-8.773	19.2466	0.93905	0.0:0.0:1.0:0.0	.	1288	Q99590	SCAFB_HUMAN	K	973;1288;1096;1288	ENSP00000449812:Q973K;ENSP00000358374:Q1288K;ENSP00000448864:Q1096K;ENSP00000413036:Q1288K	ENSP00000358374:Q1288K	Q	-	1	0	SCAF11	44604822	1.000000	0.71417	0.661000	0.29709	0.896000	0.52359	8.043000	0.89432	2.624000	0.88883	0.655000	0.94253	CAA		0.473	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719	
SCAF11	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46318557	46318557	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:46318557T>C	ENST00000369367.3	-	12	4093	c.3860A>G	c.(3859-3861)cAa>cGa	p.Q1287R	SCAF11_ENST00000419565.2_Missense_Mutation_p.Q1287R|SCAF11_ENST00000549162.1_Missense_Mutation_p.Q1095R|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000465950.1_Missense_Mutation_p.Q972R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1287					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1287R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTTGACTTGTTGGGATGGTGG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											71.0	69.0	70.0					12																	46318557		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3860A>G	12.37:g.46318557T>C	ENSP00000358374:p.Gln1287Arg		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.551528	0.86127	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000016	T	0.69396	0.3106	M	0.61703	1.905	0.49915	D	0.999836	D	0.69078	0.997	D	0.70016	0.967	T	0.72411	-0.4302	10	0.66056	D	0.02	-11.4934	15.6788	0.77352	0.0:0.0:0.0:1.0	.	1287	Q99590	SCAFB_HUMAN	R	972;1287;1095;1287	ENSP00000449812:Q972R;ENSP00000358374:Q1287R;ENSP00000448864:Q1095R;ENSP00000413036:Q1287R	ENSP00000358374:Q1287R	Q	-	2	0	SCAF11	44604824	1.000000	0.71417	0.918000	0.36340	0.903000	0.53119	6.629000	0.74267	2.165000	0.68154	0.533000	0.62120	CAA		0.478	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719	
SSH1	54434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109186220	109186220	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr12:109186220C>T	ENST00000326495.5	-	14	1828	c.1735G>A	c.(1735-1737)Ggt>Agt	p.G579S	SSH1_ENST00000360239.3_Missense_Mutation_p.G267S|SSH1_ENST00000326470.5_Missense_Mutation_p.G590S|SSH1_ENST00000551165.1_Missense_Mutation_p.G579S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	579					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G579S(1)|p.G590S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCGCTCCGACCTTTGGGACTC	0.607																																																	2	Substitution - Missense(2)	kidney(2)											99.0	95.0	96.0					12																	109186220		2203	4300	6503	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1735G>A	12.37:g.109186220C>T	ENSP00000315713:p.Gly579Ser		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765767	0.31228	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.11277	3.01;2.83;2.82;2.79	5.11	-1.83	0.07833	.	16.227600	0.00166	N	0.000000	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23249	0.058;0.082;0.049;0.034	B;B;B;B	0.28011	0.059;0.085;0.024;0.053	T	0.39057	-0.9632	10	0.10111	T	0.7	-1.6294	12.9011	0.58125	0.0:0.2657:0.6092:0.1251	.	590;579;579;267	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	S	267;579;579;590	ENSP00000353374:G267S;ENSP00000315713:G579S;ENSP00000448824:G579S;ENSP00000326107:G590S	ENSP00000326107:G590S	G	-	1	0	SSH1	107710349	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.141000	0.16076	-0.588000	0.05882	-0.182000	0.12963	GGT		0.607	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1		NM_018984	
SYPL2	284612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110020593	110020593	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:110020593G>C	ENST00000369872.3	+	5	826	c.610G>C	c.(610-612)Ggg>Cgg	p.G204R	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	204	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)	p.G204R(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTGCAGTGCCGGGGCCACGCC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											49.0	50.0	50.0					1																	110020593		2117	4230	6347	SO:0001583	missense	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.610G>C	1.37:g.110020593G>C	ENSP00000358888:p.Gly204Arg		A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	ENST00000369872.3	37	CCDS41365.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195759	0.58126	.	.	ENSG00000143028	ENST00000369872	T	0.24908	1.83	6.04	6.04	0.98038	Marvel (1);MARVEL-like domain (1);	0.098510	0.64402	D	0.000001	T	0.37046	0.0989	M	0.71871	2.18	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72625	0.969;0.95;0.978	T	0.14062	-1.0486	10	0.07175	T	0.84	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	112;204;204	Q14DL7;Q5VXT5;Q5VXT5-2	.;SYPL2_HUMAN;.	R	204	ENSP00000358888:G204R	ENSP00000358888:G204R	G	+	1	0	SYPL2	109822116	1.000000	0.71417	0.980000	0.43619	0.810000	0.45777	7.418000	0.80167	2.873000	0.98535	0.561000	0.74099	GGG		0.647	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030191.1		NM_001006603	
TAF5L	27097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229738593	229738593	+	Silent	SNP	C	C	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:229738593C>A	ENST00000366676.1	-	3	320	c.321G>T	c.(319-321)ctG>ctT	p.L107L	TAF5L_ENST00000258281.2_Silent_p.L107L|TAF5L_ENST00000366675.3_Silent_p.L107L			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	107					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.L107L(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGTTTTGGACCAGGTTGAGAT	0.448																																																	2	Substitution - coding silent(2)	kidney(2)											61.0	59.0	59.0					1																	229738593		2203	4300	6503	SO:0001819	synonymous_variant	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.321G>T	1.37:g.229738593C>A			Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	CCDS1581.1																																																																																				0.448	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1		NM_014409	
TBC1D29	26083	hgsc.bcm.edu	37	17	28890361	28890361	+	Missense_Mutation	SNP	G	G	A	rs372824382		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr17:28890361G>A	ENST00000580161.1	+	6	2868	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000579181.1_Missense_Mutation_p.R124Q|TBC1D29_ENST00000584297.1_3'UTR			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	124							Rab GTPase activator activity (GO:0005097)	p.R124Q(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				GCCTTGAGCCGGGGAGACAAG	0.567																																																	1	Substitution - Missense(1)	prostate(1)											78.0	68.0	71.0					17																	28890361		2203	4300	6503	SO:0001583	missense	26083			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.371G>A	17.37:g.28890361G>A	ENSP00000462799:p.Arg124Gln			Missense_Mutation	SNP	ENST00000580161.1	37	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	2.991	-0.208219	0.06180	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	.	.	.	.	.	T	0.14399	0.0348	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.14559	-1.0468	7	0.33141	T	0.24	.	3.9265	0.09265	0.6657:0.0:0.3343:0.0	.	124	Q9UFV1	TBC29_HUMAN	Q	124	.	ENSP00000330052:R124Q	R	+	2	0	TBC1D29	25914487	0.090000	0.21635	0.024000	0.17045	0.025000	0.11179	-1.180000	0.03088	-1.657000	0.01492	-1.643000	0.00768	CGG		0.567	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1		NM_015594	
TGFBI	7045	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135385220	135385220	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:135385220C>G	ENST00000442011.2	+	7	1025	c.864C>G	c.(862-864)atC>atG	p.I288M	TGFBI_ENST00000305126.8_Missense_Mutation_p.I288M	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	288	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.I288M(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGAGAAGATCCCTAGTGAGA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											61.0	65.0	64.0					5																	135385220		1997	4155	6152	SO:0001583	missense	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.864C>G	5.37:g.135385220C>G	ENSP00000416330:p.Ile288Met		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	CCDS47266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.001687|3.001687	0.54254|0.54254	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126|ENST00000508767;ENST00000514554	D;D|.	0.90676|.	-2.71;-2.71|.	5.94|5.94	-0.306|-0.306	0.12780|0.12780	FAS1 domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55816|0.55816	0.1944|0.1944	L|L	0.58101|0.58101	1.795|1.795	0.51482|0.51482	D|D	0.999923|0.999923	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.995|.	T|T	0.50250|0.50250	-0.8850|-0.8850	10|5	0.42905|.	T|.	0.14|.	-0.4057|-0.4057	6.4886|6.4886	0.22103|0.22103	0.1098:0.5148:0.0:0.3754|0.1098:0.5148:0.0:0.3754	.|.	21;288|.	B9ZVW9;Q15582|.	.;BGH3_HUMAN|.	M|A	288;21;288|64;6	ENSP00000416330:I288M;ENSP00000306306:I288M|.	ENSP00000306306:I288M|.	I|P	+|+	3|1	3|0	TGFBI|TGFBI	135413119|135413119	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.502000|0.502000	0.33828|0.33828	0.550000|0.550000	0.23345|0.23345	0.122000|0.122000	0.18314|0.18314	0.561000|0.561000	0.74099|0.74099	ATC|CCC		0.567	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			
UBR3	130507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170863656	170863656	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:170863656A>G	ENST00000272793.5	+	28	4236	c.4186A>G	c.(4186-4188)Ata>Gta	p.I1396V	UBR3_ENST00000418381.1_Missense_Mutation_p.I1396V|UBR3_ENST00000392631.1_Missense_Mutation_p.I217V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1396					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I249V(1)|p.I1396V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACAAGATCTCATAAAGGAAGT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											79.0	66.0	70.0					2																	170863656		2203	4300	6503	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4186A>G	2.37:g.170863656A>G	ENSP00000272793:p.Ile1396Val		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.	.	.	.	.	.	.	.	.	.	a	2.491	-0.317355	0.05386	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.0	5.0	0.66597	.	0.098188	0.64402	D	0.000002	T	0.19446	0.0467	N	0.03608	-0.345	0.30023	N	0.814181	B;B;B	0.17465	0.0;0.0;0.022	B;B;B	0.12837	0.0;0.001;0.008	T	0.10590	-1.0623	10	0.26408	T	0.33	.	9.6201	0.39716	0.9099:0.0:0.0901:0.0	.	1396;217;1396	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	V	1396;1396;1396;217;67	ENSP00000272793:I1396V;ENSP00000396068:I1396V;ENSP00000376408:I217V;ENSP00000389097:I67V	ENSP00000272793:I1396V	I	+	1	0	UBR3	170571902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.369000	0.59511	1.884000	0.54569	0.373000	0.22412	ATA		0.453	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2		NM_172070	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179437362	179437362	+	Silent	SNP	T	T	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr2:179437362T>A	ENST00000591111.1	-	276	68798	c.68574A>T	c.(68572-68574)ctA>ctT	p.L22858L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.L21931L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L15559L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.L15434L|TTN_ENST00000342175.6_Silent_p.L15626L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.L24499L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22858	Ig-like 117.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L15434L(1)|p.L15626L(1)|p.L15559L(1)|p.L21929L(1)|p.L21931L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTACAGTTAGTATATATT	0.403																																																	5	Substitution - coding silent(5)	kidney(5)											71.0	74.0	73.0					2																	179437362		1884	4107	5991	SO:0001819	synonymous_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.68574A>T	2.37:g.179437362T>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19488213	19488213	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:19488213C>T	ENST00000375254.3	-	37	5072	c.5045G>A	c.(5044-5046)tGt>tAt	p.C1682Y	UBR4_ENST00000375226.2_Missense_Mutation_p.C1682Y|UBR4_ENST00000375267.2_Missense_Mutation_p.C1682Y|UBR4_ENST00000375217.2_Missense_Mutation_p.C1682Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1682					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C1682Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCATTTTACAGGTGTGACA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											98.0	91.0	93.0					1																	19488213		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5045G>A	1.37:g.19488213C>T	ENSP00000364403:p.Cys1682Tyr		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954580	0.92726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	D;D;D;D;D	0.93763	-2.16;-2.17;-2.21;-2.24;-3.28	6.17	6.17	0.99709	Zinc finger, N-recognin (2);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.92649	3.33	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	D	0.97692	1.0179	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1682	Q5T4S7	UBR4_HUMAN	Y	1682;1682;1682;1682;392;898	ENSP00000364403:C1682Y;ENSP00000364416:C1682Y;ENSP00000364365:C1682Y;ENSP00000364374:C1682Y;ENSP00000404897:C392Y	ENSP00000364365:C1682Y	C	-	2	0	UBR4	19360800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.941000	0.99782	0.655000	0.94253	TGT		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C				RNA	SNP	ENST00000412938.1	37																																																																																					0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188299	10188306	+	Frame_Shift_Del	DEL	TTTGCCAA	TTTGCCAA	-	rs587780077		TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	TTTGCCAA	TTTGCCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:10188299_10188306delTTTGCCAA	ENST00000256474.2	+	2	1282_1289	c.442_449delTTTGCCAA	c.(442-450)tttgccaatfs	p.FAN148fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	148	Involved in binding to CCT complex.		Missing (in VHLD; type I).		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.F148fs*11(13)|p.A149fs*26(4)|p.N150fs*9(3)|p.A149fs*24(3)|p.I147fs*11(2)|p.F148fs*25(2)|p.A149fs*25(1)|p.F148fs*9(1)|p.I147fs*25(1)|p.?(1)|p.A149D(1)|p.F148del(1)|p.F148S(1)|p.I147fs*10(1)|p.I147_F148del(1)|p.N150fs*7(1)|p.A149P(1)|p.A149fs*11(1)|p.P146fs*23(1)|p.F148fs*26(1)|p.G144fs*19(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)		ACAGCCTATTTTTGCCAATATCACACTG	0.409		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"""	42	Deletion - Frameshift(28)|Insertion - Frameshift(7)|Substitution - Missense(3)|Deletion - In frame(2)|Complex - frameshift(1)|Unknown(1)	kidney(41)|adrenal_gland(1)	GRCh37	CD011878|CD951876|CD962179|CI024082|CM951288|CM982010|HD971374	VHL	D|I|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.442_449delTTTGCCAA	3.37:g.10188299_10188306delTTTGCCAA	ENSP00000256474:p.Phe148fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.409	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VIPR1	7433	broad.mit.edu;hgsc.bcm.edu	37	3	42568970	42568970	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr3:42568970C>T	ENST00000325123.4	+	5	598	c.485C>T	c.(484-486)gCt>gTt	p.A162V	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.A121V|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.A114V|VIPR1-AS1_ENST00000600342.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	162					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.A162V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GTCGCCACAGCTATCCTGAGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											104.0	89.0	94.0					3																	42568970		2203	4300	6503	SO:0001583	missense	7433			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.485C>T	3.37:g.42568970C>T	ENSP00000327246:p.Ala162Val		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.274628	0.01410	.	.	ENSG00000114812	ENST00000433647;ENST00000450274;ENST00000543411;ENST00000439731;ENST00000325123	T;T;T;T;T	0.57107	1.29;0.42;1.29;0.92;1.29	4.81	3.71	0.42584	GPCR, family 2-like (1);	0.390576	0.25765	N	0.028454	T	0.18087	0.0434	N	0.01515	-0.825	0.24720	N	0.993156	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12156	0.004;0.002;0.007	T	0.32745	-0.9895	10	0.02654	T	1	.	6.5578	0.22469	0.0:0.7287:0.0:0.2713	.	135;114;162	B4DNY6;F5H1F5;P32241	.;.;VIPR1_HUMAN	V	121;121;114;162;162	ENSP00000394950:A121V;ENSP00000415013:A121V;ENSP00000445701:A114V;ENSP00000403478:A162V;ENSP00000327246:A162V	ENSP00000327246:A162V	A	+	2	0	VIPR1	42543974	0.000000	0.05858	0.244000	0.24202	0.281000	0.26958	0.927000	0.28818	2.199000	0.70637	0.655000	0.94253	GCT		0.617	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4		NM_004624	
WWP1	11059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87464827	87464827	+	Silent	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:87464827A>G	ENST00000517970.1	+	21	2620	c.2313A>G	c.(2311-2313)gaA>gaG	p.E771E	WWP1_ENST00000341922.2_Silent_p.E641E|WWP1_ENST00000349423.2_Silent_p.E553E|WWP1_ENST00000265428.4_Silent_p.E771E	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	771	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E771E(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GAGTACAAGAACAGACCAAAG	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	111.0	112.0					8																	87464827		2203	4300	6503	SO:0001819	synonymous_variant	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2313A>G	8.37:g.87464827A>G			O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																				0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1		NM_007013	
XRN2	22803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21314413	21314413	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:21314413G>C	ENST00000377191.3	+	11	1100	c.1005G>C	c.(1003-1005)tgG>tgC	p.W335C	XRN2_ENST00000539513.1_Missense_Mutation_p.W281C|XRN2_ENST00000430571.2_Missense_Mutation_p.W259C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	335					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.W335C(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTGATGACTGGGTTTTCATGT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											308.0	283.0	292.0					20																	21314413		2203	4300	6503	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1005G>C	20.37:g.21314413G>C	ENSP00000366396:p.Trp335Cys		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276793	0.80580	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.38401	1.16;1.14;1.15	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.72977	0.3528	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80211	-0.1476	10	0.87932	D	0	-7.6303	20.1162	0.97934	0.0:0.0:1.0:0.0	.	335	Q9H0D6	XRN2_HUMAN	C	335;259;281	ENSP00000366396:W335C;ENSP00000413548:W259C;ENSP00000441113:W281C	ENSP00000366396:W335C	W	+	3	0	XRN2	21262413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.756000	0.94617	0.655000	0.94253	TGG		0.408	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2		NM_012255	
ZBTB40	9923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22828055	22828055	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr1:22828055A>G	ENST00000375647.4	+	4	1109	c.902A>G	c.(901-903)gAg>gGg	p.E301G	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E301G	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	301					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E301G(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAAGTAAGAGAGGAAAGCCTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											123.0	112.0	116.0					1																	22828055		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.902A>G	1.37:g.22828055A>G	ENSP00000364798:p.Glu301Gly		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314695	0.23908	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	D;D;D	0.88586	-2.4;-2.4;-2.4	5.57	1.63	0.23807	.	0.635593	0.14381	N	0.323138	T	0.79816	0.4511	N	0.22421	0.69	0.09310	N	0.999991	B	0.13594	0.008	B	0.14578	0.011	T	0.68554	-0.5378	10	0.87932	D	0	-0.4954	7.0924	0.25291	0.6498:0.2725:0.0778:0.0	.	301	Q9NUA8	ZBT40_HUMAN	G	301	ENSP00000384527:E301G;ENSP00000364798:E301G;ENSP00000383098:E301G	ENSP00000364798:E301G	E	+	2	0	ZBTB40	22700642	0.904000	0.30761	0.004000	0.12327	0.098000	0.18820	1.961000	0.40432	0.020000	0.15106	0.524000	0.50904	GAG		0.418	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870	
ZFR	51663	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32403288	32403288	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr5:32403288G>A	ENST00000265069.8	-	8	1541	c.1439C>T	c.(1438-1440)aCa>aTa	p.T480I		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	480					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T480I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTGTTAGATGTGCTATTAAG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											186.0	176.0	179.0					5																	32403288		2203	4300	6503	SO:0001583	missense	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1439C>T	5.37:g.32403288G>A	ENSP00000265069:p.Thr480Ile		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298029	0.40694	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.05081	3.5	5.73	5.73	0.89815	.	0.334642	0.37955	N	0.001869	T	0.05227	0.0139	N	0.14661	0.345	0.26886	N	0.967435	B	0.06786	0.001	B	0.04013	0.001	T	0.32188	-0.9916	10	0.41790	T	0.15	.	15.0228	0.71643	0.0698:0.0:0.9302:0.0	.	480	Q96KR1	ZFR_HUMAN	I	480;458	ENSP00000265069:T480I	ENSP00000265069:T480I	T	-	2	0	ZFR	32439045	0.774000	0.28592	1.000000	0.80357	0.997000	0.91878	3.851000	0.55926	2.709000	0.92574	0.491000	0.48974	ACA		0.398	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			
ZNF16	7564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	146156465	146156465	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr8:146156465G>T	ENST00000276816.4	-	4	1894	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	ZNF16_ENST00000394909.2_Missense_Mutation_p.L570M	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	570					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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.L570M(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGGGGCTTCAGCCCATTATGA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											75.0	74.0	74.0					8																	146156465		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1708C>A	8.37:g.146156465G>T	ENSP00000276816:p.Leu570Met		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331070	0.41297	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17854	2.25;2.25	4.0	-0.248	0.13015	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21347	0.0514	N	0.21194	0.64	0.20764	N	0.99986	D	0.76494	0.999	D	0.71414	0.973	T	0.13980	-1.0489	9	0.87932	D	0	.	5.1657	0.15084	0.4386:0.3528:0.2085:0.0	.	570	P17020	ZNF16_HUMAN	M	570	ENSP00000276816:L570M;ENSP00000378369:L570M	ENSP00000276816:L570M	L	-	1	2	ZNF16	146127269	0.285000	0.24296	0.944000	0.38274	0.863000	0.49368	0.923000	0.28757	0.118000	0.18165	-0.379000	0.06801	CTG		0.473	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1		NM_006958	
ZNF343	79175	broad.mit.edu;hgsc.bcm.edu	37	20	2464152	2464152	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr20:2464152C>G	ENST00000278772.4	-	6	1942	c.1455G>C	c.(1453-1455)agG>agC	p.R485S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R485S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTGAGTGTGTCCTCTGGTGGA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											114.0	101.0	105.0					20																	2464152		2203	4300	6503	SO:0001583	missense	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1455G>C	20.37:g.2464152C>G	ENSP00000278772:p.Arg485Ser		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190270	0.58017	.	.	ENSG00000088876	ENST00000278772	T	0.56776	0.44	2.19	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52468	0.1736	M	0.77486	2.375	0.20873	N	0.999837	P	0.46457	0.878	P	0.45276	0.475	T	0.51293	-0.8724	9	0.72032	D	0.01	.	3.6136	0.08069	0.0:0.628:0.0:0.372	.	485	Q6P1L6	ZN343_HUMAN	S	485	ENSP00000278772:R485S	ENSP00000278772:R485S	R	-	3	2	ZNF343	2412152	0.000000	0.05858	0.134000	0.22075	0.901000	0.52897	-3.072000	0.00618	1.229000	0.43630	0.591000	0.81541	AGG		0.517	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1		NM_024325	
ZNHIT2	741	hgsc.bcm.edu;ucsc.edu	37	11	64883959	64883959	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr11:64883959delG	ENST00000310597.4	-	1	1211	c.1167delC	c.(1165-1167)cccfs	p.P389fs	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	389							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGTGGCACGGGGCCTCCCC	0.617																																																	0													69.0	74.0	72.0					11																	64883959		2201	4297	6498	SO:0001589	frameshift_variant	741				CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.1167delC	11.37:g.64883959delG	ENSP00000308548:p.Pro389fs		Q3SY14|Q8IUV0	Frame_Shift_Del	DEL	ENST00000310597.4	37	CCDS8094.1																																																																																				0.617	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1		NM_014205	
KMT2C	58508	broad.mit.edu	37	7	151962234	151962234	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4976-01A-01D-1462-08	TCGA-BP-4976-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	95bd81ec-3c06-4c4d-9915-5cc3dd7a7155	68ce0389-a530-4c46-bb35-d7308b0549f1	g.chr7:151962234A>C	ENST00000262189.6	-	8	1291	c.1073T>G	c.(1072-1074)tTt>tGt	p.F358C	KMT2C_ENST00000355193.2_Missense_Mutation_p.F358C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	358					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F358C(2)									AGTAGTACAAAAGAACTGATC	0.433																																						.											2	Substitution - Missense(2)	kidney(2)											245.0	226.0	233.0					7																	151962234		2203	4298	6501	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1073T>G	7.37:g.151962234A>C	ENSP00000262189:p.Phe358Cys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.575994	0.28092	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98822	-5.16;-5.16	4.65	3.4	0.38934	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.175556	0.26863	U	0.022104	D	0.96987	0.9016	N	0.17312	0.475	0.80722	D	1	D	0.69078	0.997	P	0.57283	0.817	D	0.96385	0.9284	10	0.59425	D	0.04	.	10.3771	0.44088	0.8535:0.0:0.0:0.1465	.	358	Q8NEZ4	MLL3_HUMAN	C	358	ENSP00000262189:F358C;ENSP00000347325:F358C	ENSP00000262189:F358C	F	-	2	0	MLL3	151593167	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	7.358000	0.79466	1.843000	0.53566	0.455000	0.32223	TTT		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
