#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ASIC4	55515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	220396729	220396729	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:220396729C>G	ENST00000347842.3	+	3	1129	c.1115C>G	c.(1114-1116)aCg>aGg	p.T372R	ASIC4_ENST00000358078.4_Missense_Mutation_p.T372R|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	372					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.T372R(1)									GCAGATGAGACGTCGTTTGAG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											119.0	127.0	124.0					2																	220396729		2203	4300	6503	SO:0001583	missense	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1115C>G	2.37:g.220396729C>G	ENSP00000326627:p.Thr372Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510522	0.64522	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.65178	-0.12;-0.14	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.72894	2.215	0.54753	D	0.999985	D;D;D	0.89917	0.997;0.992;1.0	D;D;D	0.75484	0.967;0.952;0.986	T	0.80027	-0.1554	10	0.54805	T	0.06	-19.6742	15.8578	0.78994	0.0:1.0:0.0:0.0	.	372;372;372	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	R	372	ENSP00000326627:T372R;ENSP00000350786:T372R	ENSP00000326627:T372R	T	+	2	0	ACCN4	220104973	1.000000	0.71417	0.942000	0.38095	0.914000	0.54420	4.712000	0.61888	2.152000	0.67230	0.561000	0.74099	ACG		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1		NM_018674	
AMICA1	120425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118068750	118068750	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr11:118068750T>G	ENST00000356289.5	-	8	1141	c.968A>C	c.(967-969)aAa>aCa	p.K323T	AMICA1_ENST00000292067.7_Missense_Mutation_p.K313T|AMICA1_ENST00000533261.1_Missense_Mutation_p.K312T|AMICA1_ENST00000526620.1_Missense_Mutation_p.K284T	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	323					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.K313T(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGTTTTTCTTTTATCTCTGG	0.458											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											205.0	184.0	191.0					11																	118068750		2199	4296	6495	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.968A>C	11.37:g.118068750T>G	ENSP00000348635:p.Lys323Thr	Somatic	1485	WXS	Illumina HiSeq	Phase_I	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	T	7.345	0.621677	0.14193	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620	D;D;D;D	0.98474	-4.38;-4.39;-4.4;-4.95	3.91	2.99	0.34606	.	1.154600	0.06537	N	0.742592	D	0.94155	0.8125	N	0.14661	0.345	0.18873	N	0.999988	B;B;B;B;B	0.31290	0.213;0.063;0.213;0.213;0.318	B;B;B;B;B	0.26770	0.033;0.026;0.033;0.033;0.073	D	0.90355	0.4369	10	0.66056	D	0.02	0.145	6.9305	0.24439	0.0:0.8713:0.0:0.1287	.	323;284;323;312;313	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	T	323;313;312;284	ENSP00000348635:K323T;ENSP00000292067:K313T;ENSP00000436117:K312T;ENSP00000431218:K284T	ENSP00000292067:K313T	K	-	2	0	AMICA1	117573960	0.902000	0.30710	0.401000	0.26359	0.000000	0.00434	1.705000	0.37867	1.201000	0.43203	-0.248000	0.11899	AAA		0.458	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2		NM_153206	
ATP5A1	498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	43666148	43666148	+	Missense_Mutation	SNP	C	C	T	rs374742618		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr18:43666148C>T	ENST00000398752.6	-	10	1481	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	ATP5A1_ENST00000593152.2_Missense_Mutation_p.D404N|ATP5A1_ENST00000590665.1_Missense_Mutation_p.D432N|ATP5A1_ENST00000282050.2_Missense_Mutation_p.D454N	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	454					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.D454N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GTGGCAGCATCGAGGTCAGAA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											88.0	79.0	82.0					18																	43666148		2203	4300	6503	SO:0001583	missense	498			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1360G>A	18.37:g.43666148C>T	ENSP00000381736:p.Asp454Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547566	0.96488	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.78481	-1.18;-1.18	4.93	4.93	0.64822	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96881	0.9646	10	0.87932	D	0	-22.9604	18.2285	0.89926	0.0:1.0:0.0:0.0	.	454	P25705	ATPA_HUMAN	N	454;454;404	ENSP00000282050:D454N;ENSP00000381736:D454N	ENSP00000282050:D454N	D	-	1	0	ATP5A1	41920146	1.000000	0.71417	0.909000	0.35828	0.986000	0.74619	7.421000	0.80204	2.304000	0.77564	0.650000	0.86243	GAT		0.463	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1		NM_004046	
CEP131	22994	hgsc.bcm.edu;ucsc.edu	37	17	79168674	79168677	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	GACA	GACA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:79168674_79168677delGACA	ENST00000269392.4	-	17	2368_2371	c.2121_2124delTGTC	c.(2119-2124)actgtcfs	p.TV707fs	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000575907.1_Frame_Shift_Del_p.TV707fs|AZI1_ENST00000374782.3_Frame_Shift_Del_p.TV704fs|AZI1_ENST00000450824.2_Frame_Shift_Del_p.TV704fs	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		707					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCCACCTCGGACAGTGACCTCCT	0.544																																																	0																																										SO:0001589	frameshift_variant	22994																														ENST00000269392.4:c.2121_2124delTGTC	17.37:g.79168674_79168677delGACA	ENSP00000269392:p.Thr707fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHI8|B2RN11|Q96F50	Frame_Shift_Del	DEL	ENST00000269392.4	37																																																																																					0.544	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32915021	32915021	+	Missense_Mutation	SNP	A	A	G	rs397507865		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr13:32915021A>G	ENST00000380152.3	+	11	6762	c.6529A>G	c.(6529-6531)Att>Gtt	p.I2177V	BRCA2_ENST00000544455.1_Missense_Mutation_p.I2177V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2177					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.I2177V(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAGAACATTCATGTTTT	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	2	Substitution - Missense(2)	kidney(2)											50.0	52.0	52.0					13																	32915021		2203	4298	6501	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6529A>G	13.37:g.32915021A>G	ENSP00000369497:p.Ile2177Val	Somatic		WXS	Illumina HiSeq	Phase_I	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	4.097	0.016082	0.07959	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.78126	-1.15;-1.15	5.34	-3.46	0.04767	.	1.047490	0.07464	N	0.901049	T	0.69043	0.3067	M	0.73598	2.24	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.53443	-0.8438	10	0.06365	T	0.9	.	7.1749	0.25738	0.4799:0.0:0.4072:0.113	.	2177	P51587	BRCA2_HUMAN	V	2177	ENSP00000369497:I2177V;ENSP00000439902:I2177V	ENSP00000369497:I2177V	I	+	1	0	BRCA2	31813021	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.028000	0.12350	-0.580000	0.05944	0.482000	0.46254	ATT		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059	
CCDC7	79741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	33134530	33134530	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr10:33134530A>C	ENST00000375030.2	+	16	1720	c.1102A>C	c.(1102-1104)Acg>Ccg	p.T368P	C10orf68_ENST00000375028.3_Missense_Mutation_p.T413P|C10orf68_ENST00000375025.4_Missense_Mutation_p.T473P			Q9H943	CJ068_HUMAN		409								p.T409P(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GGAGTCAACCACGACACAATT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											83.0	92.0	89.0					10																	33134530		2203	4296	6499	SO:0001583	missense	79741																														ENST00000375030.2:c.1102A>C	10.37:g.33134530A>C	ENSP00000364170:p.Thr368Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375030.2	37		.	.	.	.	.	.	.	.	.	.	.	4.988	0.183504	0.09495	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.29917	1.57;1.56;1.55;1.55	1.69	0.529	0.17095	.	.	.	.	.	T	0.17492	0.0420	L	0.34521	1.04	0.09310	N	1	B;B;P;B	0.37015	0.118;0.104;0.578;0.104	B;B;B;B	0.32465	0.07;0.07;0.146;0.006	T	0.13764	-1.0497	9	0.39692	T	0.17	.	3.4811	0.07602	0.7796:0.0:0.2204:0.0	.	390;409;413;368	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	P	409;368;413;473;385	ENSP00000303710:T409P;ENSP00000364170:T368P;ENSP00000364168:T413P;ENSP00000364165:T473P	ENSP00000303710:T409P	T	+	1	0	C10orf68	33174536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.200000	0.09478	0.145000	0.18977	0.379000	0.24179	ACG		0.308	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			
C1orf158	93190	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12820749	12820749	+	Silent	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:12820749G>A	ENST00000288048.5	+	4	666	c.450G>A	c.(448-450)caG>caA	p.Q150Q	C1orf158_ENST00000376210.3_Silent_p.Q112Q	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	150								p.Q150Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAGACAGCTCACACCCA	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	122.0	128.0					1																	12820749		2203	4300	6503	SO:0001819	synonymous_variant	93190			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.450G>A	1.37:g.12820749G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUY4	Silent	SNP	ENST00000288048.5	37	CCDS147.1																																																																																				0.557	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1		NM_152290	
C4orf51	646603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	146650343	146650343	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:146650343G>C	ENST00000438731.1	+	4	389	c.389G>C	c.(388-390)gGt>gCt	p.G130A		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	130								p.G130A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TGGGATTTTGGTGATTGTTTT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											100.0	94.0	96.0					4																	146650343		1826	4082	5908	SO:0001583	missense	646603				CCDS47140.1	4q31.21	2009-09-09			ENSG00000237136	ENSG00000237136			37264	protein-coding gene	gene with protein product							Standard	NM_001080531		Approved		uc003ikk.3	C9J302	OTTHUMG00000161367	ENST00000438731.1:c.389G>C	4.37:g.146650343G>C	ENSP00000391404:p.Gly130Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000438731.1	37	CCDS47140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.329806|1.329806	0.24167|0.24167	.|.	.|.	ENSG00000237136|ENSG00000237136	ENST00000438731|ENST00000511965	.|.	.|.	.|.	3.37|3.37	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.19967|0.19967	0.0480|0.0480	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.15930|.	0.015|.	B|.	0.17722|.	0.019|.	T|T	0.29701|0.29701	-1.0003|-1.0003	8|5	0.87932|.	D|.	0|.	.|.	5.8464|5.8464	0.18669|0.18669	0.2366:0.5013:0.2621:0.0|0.2366:0.5013:0.2621:0.0	.|.	130|.	C9J302|.	CD051_HUMAN|.	A|L	130|90	.|.	ENSP00000391404:G130A|.	G|V	+|+	2|1	0|0	C4orf51|C4orf51	146869793|146869793	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.035000|0.035000	0.12851|0.12851	-0.139000|-0.139000	0.10358|0.10358	-0.624000|-0.624000	0.05611|0.05611	0.585000|0.585000	0.79938|0.79938	GGT|GTG		0.323	C4orf51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001080531	
CAMK1D	57118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12833177	12833177	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr10:12833177A>C	ENST00000378847.3	+	6	923	c.586A>C	c.(586-588)Aaa>Caa	p.K196Q	CAMK1D_ENST00000378845.1_Missense_Mutation_p.K196Q	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.K196Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCTCGCCCAGAAACCTTACAG	0.493																																																	2	Substitution - Missense(2)	kidney(2)											200.0	179.0	186.0					10																	12833177		2203	4300	6503	SO:0001583	missense	57118			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.586A>C	10.37:g.12833177A>C	ENSP00000368124:p.Lys196Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.233111	0.39498	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.65732	-0.17;-0.17	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.11845	0.185	0.80722	D	1	P;B	0.46706	0.883;0.01	P;B	0.51974	0.686;0.034	T	0.50955	-0.8766	10	0.18710	T	0.47	-20.2713	13.6903	0.62542	1.0:0.0:0.0:0.0	.	196;196	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	Q	196	ENSP00000368124:K196Q;ENSP00000368122:K196Q	ENSP00000368122:K196Q	K	+	1	0	CAMK1D	12873183	1.000000	0.71417	0.998000	0.56505	0.318000	0.28184	8.469000	0.90395	2.168000	0.68352	0.533000	0.62120	AAA		0.493	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1		NM_020397	
CARD9	64170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139266450	139266450	+	Silent	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:139266450G>C	ENST00000371732.5	-	2	246	c.81C>G	c.(79-81)ccC>ccG	p.P27P	CARD9_ENST00000371734.3_Silent_p.P27P|CARD9_ENST00000315908.7_Silent_p.P27P	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	27	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.P27P(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGATGCGTGAGGGGTCGATGA	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											155.0	118.0	130.0					9																	139266450		2203	4300	6503	SO:0001819	synonymous_variant	64170			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.81C>G	9.37:g.139266450G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5SXM5|Q5SXM6|Q9H854	Silent	SNP	ENST00000371732.5	37	CCDS6997.1																																																																																				0.622	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1		NM_052813	
CCKAR	886	hgsc.bcm.edu;ucsc.edu	37	4	26483745	26483745	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:26483745C>A	ENST00000295589.3	-	5	996	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	268					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.G268W(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGTAACACCCATCGCTGTCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											75.0	79.0	78.0					4																	26483745		2203	4300	6503	SO:0001583	missense	886			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.802G>T	4.37:g.26483745C>A	ENSP00000295589:p.Gly268Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134195	0.56828	.	.	ENSG00000163394	ENST00000295589	T	0.55760	0.5	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83757	0.0212	10	0.87932	D	0	.	18.7564	0.91835	0.0:1.0:0.0:0.0	.	268	P32238	CCKAR_HUMAN	W	268	ENSP00000295589:G268W	ENSP00000295589:G268W	G	-	1	0	CCKAR	26092843	1.000000	0.71417	0.801000	0.32222	0.015000	0.08874	7.818000	0.86416	2.444000	0.82710	0.462000	0.41574	GGG		0.602	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227213828	227213828	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:227213828C>T	ENST00000366769.3	-	30	5644	c.4353G>A	c.(4351-4353)gtG>gtA	p.V1451V	CDC42BPA_ENST00000366764.2_Silent_p.V1423V|CDC42BPA_ENST00000366765.3_Silent_p.V1464V|CDC42BPA_ENST00000366766.2_Silent_p.V1486V|CDC42BPA_ENST00000334218.5_Silent_p.V1451V|CDC42BPA_ENST00000366767.3_Silent_p.V1370V|CDC42BPA_ENST00000535525.1_Silent_p.V1431V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.V1486V(1)|p.V1370V(1)|p.V1451V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTTCACTGTACACCGAGAGAT	0.398																																																	3	Substitution - coding silent(3)	kidney(3)											90.0	89.0	89.0					1																	227213828		2203	4300	6503	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4353G>A	1.37:g.227213828C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	7.222	0.597662	0.13875	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.5	-5.2	0.02823	.	0.203706	0.41605	N	0.000843	T	0.05410	0.0143	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37291	-0.9712	7	0.33940	T	0.23	.	1.8451	0.03158	0.201:0.2816:0.0984:0.4191	.	.	.	.	I	654;780;349;676	ENSP00000415388:V654I;ENSP00000401051:V780I;ENSP00000407120:V349I;ENSP00000408165:V676I	ENSP00000407120:V349I	V	-	1	0	CDC42BPA	225280451	0.771000	0.28555	0.019000	0.16419	0.800000	0.45204	-0.033000	0.12246	-1.209000	0.02631	-0.157000	0.13467	GTA		0.398	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826	
CDK13	8621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40085608	40085608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:40085608A>T	ENST00000181839.4	+	6	3132	c.2527A>T	c.(2527-2529)Atc>Ttc	p.I843F	CDK13_ENST00000340829.5_Missense_Mutation_p.I843F|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	843	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.I843F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATGTTCCAATATCCTTCTAAA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											87.0	94.0	92.0					7																	40085608		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2527A>T	7.37:g.40085608A>T	ENSP00000181839:p.Ile843Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894750	0.52121	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.57907	0.37;0.37	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.72669	0.3489	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.993;0.994;0.998	T	0.75980	-0.3126	8	.	.	.	-6.7766	14.1741	0.65529	1.0:0.0:0.0:0.0	.	229;843;843	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	F	843	ENSP00000181839:I843F;ENSP00000340557:I843F	.	I	+	1	0	CDK13	40052133	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	9.139000	0.94554	1.930000	0.55929	0.528000	0.53228	ATC		0.323	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2		NM_003718	
CNNM3	26505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97483238	97483238	+	Splice_Site	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:97483238A>C	ENST00000305510.3	+	1	1252	c.1224A>C	c.(1222-1224)cgA>cgC	p.R408R	CNNM3_ENST00000377060.3_Splice_Site_p.R408R	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	408	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R408R(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AATTCAAGCGAGGTAACGGCC	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	99.0	100.0					2																	97483238		2203	4300	6503	SO:0001630	splice_region_variant	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1225+1A>C	2.37:g.97483238A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	CCDS2025.1																																																																																				0.602	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2		NM_017623	Silent
CPNE5	57699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36730739	36730739	+	Silent	SNP	A	A	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr6:36730739A>G	ENST00000244751.2	-	12	1434	c.810T>C	c.(808-810)agT>agC	p.S270S		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	270						extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.S270S(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						GCTCCCGGTAACTGGTGGTGA	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	112.0	121.0					6																	36730739		2203	4300	6503	SO:0001819	synonymous_variant	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.810T>C	6.37:g.36730739A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z6C8	Silent	SNP	ENST00000244751.2	37	CCDS4825.1																																																																																				0.597	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1		NM_020939	
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	4495044	4495044	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:4495044C>A	ENST00000520002.1	-	2	677	c.122G>T	c.(121-123)gGc>gTc	p.G41V	CSMD1_ENST00000539096.1_Missense_Mutation_p.G41V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G41V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G41V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G41V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G41V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G41V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	41	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G41V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCAATAGTGCCATTGGGACC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											75.0	75.0	75.0					8																	4495044		1903	4126	6029	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.122G>T	8.37:g.4495044C>A	ENSP00000430733:p.Gly41Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	C	18.01	3.528431	0.64860	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.32	5.32	0.75619	.	.	.	.	.	T	0.79598	0.4473	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86594	0.1862	9	0.87932	D	0	.	16.4949	0.84237	0.0:1.0:0.0:0.0	.	41	E5RIG2	.	V	41	ENSP00000383047:G41V;ENSP00000430733:G41V;ENSP00000441462:G41V;ENSP00000446243:G41V;ENSP00000441675:G41V	ENSP00000383047:G41V	G	-	2	0	CSMD1	4482452	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	7.755000	0.85180	2.508000	0.84585	0.585000	0.79938	GGC		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	
CTDSPL2	51496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	44751276	44751276	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr15:44751276A>T	ENST00000260327.4	+	2	627	c.64A>T	c.(64-66)Aga>Tga	p.R22*	CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.R22*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.R22*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.R22*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	22							phosphoprotein phosphatase activity (GO:0004721)	p.R22*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACGCACTGCCAGAGCAAAGAG	0.403																																																	1	Substitution - Nonsense(1)	kidney(1)											93.0	94.0	94.0					15																	44751276		2198	4298	6496	SO:0001587	stop_gained	51496			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.64A>T	15.37:g.44751276A>T	ENSP00000260327:p.Arg22*	Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Nonsense_Mutation	SNP	ENST00000260327.4	37	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	A	38	7.115831	0.98074	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	.	.	.	5.28	5.28	0.74379	.	0.156390	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5297	11.3128	0.49375	0.7185:0.2815:0.0:0.0	.	.	.	.	X	22	.	ENSP00000260327:R22X	R	+	1	2	CTDSPL2	42538568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.771000	0.47670	1.994000	0.58287	0.528000	0.53228	AGA		0.403	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1		NM_016396	
CYB5R1	51706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202932260	202932260	+	Missense_Mutation	SNP	C	C	T	rs559078788		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:202932260C>T	ENST00000367249.4	-	8	753	c.679G>A	c.(679-681)Gag>Aag	p.E227K	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	227					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.E227K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TGCAGTTCCTCTAAGTCCTCC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		7674	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											106.0	102.0	103.0					1																	202932260		2203	4300	6503	SO:0001583	missense	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.679G>A	1.37:g.202932260C>T	ENSP00000356218:p.Glu227Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616392	0.87359	.	.	ENSG00000159348	ENST00000367249	D	0.87412	-2.25	5.98	5.06	0.68205	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.133205	0.49305	D	0.000151	D	0.90769	0.7102	M	0.86740	2.835	0.58432	D	0.999993	B	0.31503	0.326	B	0.42462	0.388	D	0.90732	0.4643	10	0.72032	D	0.01	-5.0745	12.2192	0.54425	0.0:0.9189:0.0:0.0811	.	227	Q9UHQ9	NB5R1_HUMAN	K	227	ENSP00000356218:E227K	ENSP00000356218:E227K	E	-	1	0	CYB5R1	201198883	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.634000	0.61325	2.837000	0.97791	0.591000	0.81541	GAG		0.473	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1		NM_016243	
DHX57	90957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39075474	39075474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:39075474delC	ENST00000295373.6	-	10	2227	c.2101delG	c.(2101-2103)gcafs	p.A701fs		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	701	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTAGAGTTGCACTCATTAAA	0.353																																					Melanoma(191;1090 2095 4375 23729 47341)												0													75.0	82.0	79.0					2																	39075474		2203	4300	6503	SO:0001589	frameshift_variant	90957			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2101delG	2.37:g.39075474delC	ENSP00000295373:p.Ala701fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Frame_Shift_Del	DEL	ENST00000295373.6	37	CCDS1800.1																																																																																				0.353	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2		NM_145646	
ECT2	1894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	172480526	172480526	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:172480526T>C	ENST00000392692.3	+	10	1111	c.935T>C	c.(934-936)gTa>gCa	p.V312A	ECT2_ENST00000232458.5_Missense_Mutation_p.V281A|ECT2_ENST00000427830.1_Missense_Mutation_p.V281A|ECT2_ENST00000540509.1_Missense_Mutation_p.V312A|ECT2_ENST00000417960.1_Missense_Mutation_p.V280A|ECT2_ENST00000441497.2_Missense_Mutation_p.V281A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	312	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.V281A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ACTCACCTTGTAGTTGAAGAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											101.0	102.0	102.0					3																	172480526		2203	4300	6503	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.935T>C	3.37:g.172480526T>C	ENSP00000376457:p.Val312Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075634	0.76415	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.84	4.64	0.57946	BRCT (3);	0.265778	0.42682	D	0.000666	T	0.40372	0.1114	M	0.85197	2.74	0.58432	D	0.999995	P;D;D;P	0.55172	0.862;0.97;0.965;0.915	P;P;P;P	0.58266	0.562;0.836;0.831;0.746	T	0.43893	-0.9363	10	0.87932	D	0	-5.1662	12.4197	0.55514	0.1254:0.0:0.0:0.8746	.	312;312;281;280	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	A	281;312;281;280;281;312	ENSP00000232458:V281A;ENSP00000376457:V312A;ENSP00000401910:V281A;ENSP00000415876:V280A;ENSP00000412259:V281A;ENSP00000443160:V312A	ENSP00000232458:V281A	V	+	2	0	ECT2	173963220	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.730000	0.68546	2.226000	0.72624	0.482000	0.46254	GTA		0.348	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2		NM_018098	
EEA1	8411	hgsc.bcm.edu;ucsc.edu	37	12	93205170	93205170	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr12:93205170delG	ENST00000322349.8	-	17	2348	c.2084delC	c.(2083-2085)gcafs	p.A695fs		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	695	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTGTAACTTTGCAGTGACCTG	0.343																																																	0													64.0	64.0	64.0					12																	93205170		2201	4298	6499	SO:0001589	frameshift_variant	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2084delC	12.37:g.93205170delG	ENSP00000317955:p.Ala695fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14221	Frame_Shift_Del	DEL	ENST00000322349.8	37	CCDS31874.1																																																																																				0.343	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566	
ELP3	55140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27970578	27970578	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:27970578G>A	ENST00000256398.8	+	7	882	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	ELP3_ENST00000542181.1_Missense_Mutation_p.V40M|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Missense_Mutation_p.V50M|ELP3_ENST00000380353.4_Missense_Mutation_p.V77M|ELP3_ENST00000521015.1_Missense_Mutation_p.V155M|ELP3_ENST00000524103.1_Missense_Mutation_p.V97M	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	169					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)	p.V169M(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGAGTTTATTGTGATGGGTGG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											177.0	171.0	173.0					8																	27970578		2203	4300	6503	SO:0001583	missense	55140				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.505G>A	8.37:g.27970578G>A	ENSP00000256398:p.Val169Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986729	0.93106	.	.	ENSG00000134014	ENST00000521015;ENST00000521570;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	T;T;T;T;T;T	0.80994	-1.44;-1.44;1.93;-1.44;1.93;1.87	5.93	5.93	0.95920	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.92077	3.27	0.80722	D	1	D;P	0.71674	0.998;0.56	D;P	0.64687	0.928;0.489	D	0.93108	0.6514	10	0.87932	D	0	-18.5491	17.8306	0.88682	0.0:0.0:1.0:0.0	.	50;169	B4DE19;Q9H9T3	.;ELP3_HUMAN	M	155;155;169;40;97;50;77	ENSP00000428449:V155M;ENSP00000256398:V169M;ENSP00000439242:V40M;ENSP00000429180:V97M;ENSP00000445558:V50M;ENSP00000369711:V77M	ENSP00000256398:V169M	V	+	1	0	ELP3	28026497	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.246000	0.72405	2.805000	0.96524	0.655000	0.94253	GTG		0.333	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2		NM_018091	
ERAL1	26284	hgsc.bcm.edu	37	17	27182058	27182059	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:27182058_27182059insG	ENST00000254928.5	+	1	103_104	c.6_7insG	c.(7-9)gccfs	p.A3fs	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	3					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTGTAATGGCTGCCCCCAGCTG	0.614																																																	0																																										SO:0001589	frameshift_variant	26284			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.7dupG	17.37:g.27182059_27182059dupG	ENSP00000254928:p.Ala3fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Frame_Shift_Ins	INS	ENST00000254928.5	37	CCDS11244.1																																																																																				0.614	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			
FANCI	55215	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89837084	89837084	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr15:89837084T>C	ENST00000310775.7	+	23	2398	c.2312T>C	c.(2311-2313)aTt>aCt	p.I771T	FANCI_ENST00000300027.8_Missense_Mutation_p.I771T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	771					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.I771T(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTTGAGGACATTCTGAGCTTA	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								2	Substitution - Missense(2)	kidney(2)											94.0	96.0	95.0					15																	89837084		2199	4299	6498	SO:0001583	missense	55215	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2312T>C	15.37:g.89837084T>C	ENSP00000310842:p.Ile771Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502231	0.44455	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.42131	0.98;0.98;0.98	5.72	5.72	0.89469	.	0.468946	0.23780	N	0.044637	T	0.46034	0.1372	L	0.57536	1.79	0.80722	D	1	B;P;P	0.35684	0.374;0.515;0.515	B;B;B	0.38842	0.283;0.22;0.22	T	0.48445	-0.9035	10	0.66056	D	0.02	-1.977	15.9998	0.80285	0.0:0.0:0.0:1.0	.	771;771;771	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	T	771	ENSP00000300027:I771T;ENSP00000310842:I771T;ENSP00000413249:I771T	ENSP00000300027:I771T	I	+	2	0	FANCI	87638088	0.977000	0.34250	0.493000	0.27502	0.437000	0.31866	7.436000	0.80404	2.189000	0.69895	0.533000	0.62120	ATT		0.318	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1		NM_018193	
FBXL16	146330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	745593	745593	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr16:745593G>C	ENST00000397621.1	-	3	1295	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V	FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Missense_Mutation_p.L110V|FBXL16_ENST00000324361.5_Missense_Mutation_p.L322V	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	322								p.L322V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				AGCGCGGTGAGGTTGGGCAGG	0.687																																																	1	Substitution - Missense(1)	kidney(1)											42.0	38.0	39.0					16																	745593		2197	4295	6492	SO:0001583	missense	146330			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.964C>G	16.37:g.745593G>C	ENSP00000380746:p.Leu322Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	g	18.47	3.630535	0.67015	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.64085	-0.08;-0.08	4.56	4.56	0.56223	.	0.139354	0.49916	D	0.000128	D	0.83968	0.5369	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88468	0.3060	10	0.72032	D	0.01	.	16.0528	0.80775	0.0:0.0:1.0:0.0	.	322	Q8N461	FXL16_HUMAN	V	322	ENSP00000380746:L322V;ENSP00000318674:L322V	ENSP00000318674:L322V	L	-	1	0	FBXL16	685594	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.522000	0.98032	2.365000	0.80145	0.561000	0.74099	CTC		0.687	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2		NM_153350	
FCRL4	83417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157556209	157556209	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:157556209G>A	ENST00000271532.1	-	6	1019	c.884C>T	c.(883-885)cCc>cTc	p.P295L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	295	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P295L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCCCCCTGAGGGCTGGGTCTC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											51.0	51.0	51.0					1																	157556209		2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.884C>T	1.37:g.157556209G>A	ENSP00000271532:p.Pro295Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914711	0.33815	.	.	ENSG00000163518	ENST00000271532	D	0.85339	-1.97	4.12	4.12	0.48240	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39020	N	0.001495	D	0.90539	0.7035	M	0.89658	3.05	0.09310	N	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.83249	-0.0054	10	0.41790	T	0.15	.	12.0607	0.53561	0.0:0.0:1.0:0.0	.	295	Q96PJ5	FCRL4_HUMAN	L	295	ENSP00000271532:P295L	ENSP00000271532:P295L	P	-	2	0	FCRL4	155822833	0.915000	0.31059	0.047000	0.18901	0.044000	0.14063	2.930000	0.48924	2.255000	0.74692	0.467000	0.42956	CCC		0.617	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1		NM_031282	
NUDT6	11162	hgsc.bcm.edu;ucsc.edu	37	4	123813456	123813456	+	IGR	DEL	G	G	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:123813456delG	ENST00000304430.5	-	0	1169				FGF2_ENST00000264498.3_Frame_Shift_Del_p.V258fs|FGF2_ENST00000608478.1_Frame_Shift_Del_p.V125fs|NUDT6_ENST00000608639.1_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6							mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CAGTTGGTATGTGGCACTGAA	0.378																																																	0													143.0	136.0	138.0					4																	123813456		2203	4300	6503	SO:0001628	intergenic_variant	2247			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507		4.37:g.123813456delG		Somatic		WXS	Illumina HiSeq	Phase_I	A8K756|O95097|Q9UQD9	Frame_Shift_Del	DEL	ENST00000304430.5	37	CCDS43268.1																																																																																				0.378	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095331.3		NM_007083	
GOLPH3	64083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32126354	32126354	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr5:32126354C>A	ENST00000265070.6	-	4	1176	c.861G>T	c.(859-861)gaG>gaT	p.E287D	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	287					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)	p.E287D(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCCACAGAACCTCATTGGTGT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											114.0	107.0	110.0					5																	32126354		2203	4300	6503	SO:0001583	missense	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.861G>T	5.37:g.32126354C>A	ENSP00000265070:p.Glu287Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	C	3.120	-0.180775	0.06380	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	5.87	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.66506	2.035	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.54173	-0.8333	9	0.30078	T	0.28	.	12.2568	0.54629	0.0:0.861:0.0:0.139	.	287	Q9H4A6	GOLP3_HUMAN	D	287;270	.	ENSP00000265070:E287D	E	-	3	2	GOLPH3	32162111	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	3.549000	0.53681	0.921000	0.36994	-0.150000	0.13652	GAG		0.507	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2		NM_022130	
GPR126	57211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	142737063	142737063	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr6:142737063G>T	ENST00000230173.6	+	20	3276	c.2800G>T	c.(2800-2802)Gca>Tca	p.A934S	GPR126_ENST00000367609.3_Missense_Mutation_p.A934S|GPR126_ENST00000296932.8_Missense_Mutation_p.A906S|GPR126_ENST00000367608.2_Missense_Mutation_p.A906S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	934					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A905S(1)|p.A934S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CATTGCTGTTGCAGTCCTGTT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											220.0	211.0	214.0					6																	142737063		1986	4177	6163	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2800G>T	6.37:g.142737063G>T	ENSP00000230173:p.Ala934Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539260	0.65085	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	T	0.73401	0.3582	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.79424	-0.1809	10	0.87932	D	0	.	19.5245	0.95199	0.0:0.0:1.0:0.0	.	906;934;906;934	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	S	934;906;906;934	ENSP00000230173:A934S;ENSP00000356580:A906S;ENSP00000296932:A906S;ENSP00000356581:A934S	ENSP00000230173:A934S	A	+	1	0	GPR126	142778756	1.000000	0.71417	0.140000	0.22221	0.007000	0.05969	9.420000	0.97426	2.694000	0.91930	0.650000	0.86243	GCA		0.453	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			
INTS1	26173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	1539240	1539240	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:1539240C>T	ENST00000404767.3	-	6	798	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	INTS1_ENST00000493531.1_5'UTR|INTS1_ENST00000389470.4_Missense_Mutation_p.R366Q	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	238					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.R366Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACCCAGATCCGCTCCCCCAG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											47.0	57.0	54.0					7																	1539240		1979	4156	6135	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.713G>A	7.37:g.1539240C>T	ENSP00000385722:p.Arg238Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847519	0.71603	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.70164	-0.46;-0.44	4.44	3.54	0.40534	.	0.127849	0.52532	D	0.000076	T	0.81706	0.4879	M	0.82056	2.57	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84533	0.0634	10	0.87932	D	0	.	14.5385	0.67979	0.0:0.8523:0.1477:0.0	.	366;238	A4D212;Q8N201	.;INT1_HUMAN	Q	238;366	ENSP00000385722:R238Q;ENSP00000374121:R366Q	ENSP00000374121:R366Q	R	-	2	0	INTS1	1505766	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.404000	0.79996	0.958000	0.37956	0.561000	0.74099	CGG		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			
ITGB1	3688	hgsc.bcm.edu	37	10	33199253	33199258	+	In_Frame_Del	DEL	CAGGAT	CAGGAT	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	CAGGAT	CAGGAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr10:33199253_33199258delCAGGAT	ENST00000396033.2	-	14	2192_2197	c.2057_2062delATCCTG	c.(2056-2064)gatcctgtg>gtg	p.DP686del	ITGB1_ENST00000374956.4_In_Frame_Del_p.DP686del|ITGB1_ENST00000302278.3_In_Frame_Del_p.DP686del|ITGB1_ENST00000423113.1_In_Frame_Del_p.DP686del	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	686					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|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 endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CAATGGGACACAGGATCAGGTTGGAC	0.427																																																	0																																										SO:0001651	inframe_deletion	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2057_2062delATCCTG	10.37:g.33199253_33199258delCAGGAT	ENSP00000379350:p.Asp686_Pro687del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	In_Frame_Del	DEL	ENST00000396033.2	37	CCDS7174.1																																																																																				0.427	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1		NM_002211	
KDELR2	11014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6502730	6502730	+	3'UTR	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:6502730C>G	ENST00000258739.4	-	0	865				DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000490996.1_Missense_Mutation_p.R143P|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2						intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	KDEL sequence binding (GO:0005046)	p.R143P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GAATTCTGTCCGAGCACCCTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											149.0	130.0	137.0					7																	6502730		2203	4300	6503	SO:0001624	3_prime_UTR_variant	11014			X63745	CCDS5351.1, CCDS43550.1	7p	2008-05-02			ENSG00000136240	ENSG00000136240			6305	protein-coding gene	gene with protein product		609024				1316805, 1325562	Standard	NM_006854		Approved	ELP-1, ERD2.2	uc003sqe.4	P33947	OTTHUMG00000023103	ENST00000258739.4:c.*42G>C	7.37:g.6502730C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D2P4|Q6IPC5|Q96E30	Missense_Mutation	SNP	ENST00000258739.4	37	CCDS5351.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875802	0.33162	.	.	ENSG00000136240	ENST00000490996	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.22424	N	0.99911	P	0.47191	0.891	P	0.45913	0.497	T	0.41034	-0.9531	7	0.87932	D	0	.	9.5927	0.39557	0.0:0.8434:0.0:0.1566	.	143	P33947-2	.	P	143	.	ENSP00000420501:R143P	R	-	2	0	KDELR2	6469255	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.250000	0.32850	2.451000	0.82905	0.591000	0.81541	CGG		0.418	KDELR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059424.2			
KIF21B	23046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200954092	200954092	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:200954092T>A	ENST00000422435.2	-	27	4014	c.3698A>T	c.(3697-3699)gAt>gTt	p.D1233V	KIF21B_ENST00000332129.2_Missense_Mutation_p.D1233V|KIF21B_ENST00000360529.5_Missense_Mutation_p.D1233V|KIF21B_ENST00000461742.2_Missense_Mutation_p.D1233V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1233					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1233V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GAATCCCACATCTGTGGACCT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											75.0	67.0	70.0					1																	200954092		2203	4300	6503	SO:0001583	missense	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3698A>T	1.37:g.200954092T>A	ENSP00000411831:p.Asp1233Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.396422	0.62177	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73258	-0.43;-0.73;-0.67;-0.36	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	L	0.51422	1.61	0.80722	D	1	D;P;P;P	0.57899	0.981;0.875;0.933;0.617	P;B;B;B	0.49637	0.617;0.212;0.276;0.242	T	0.74494	-0.3647	10	0.48119	T	0.1	.	15.7018	0.77547	0.0:0.0:0.0:1.0	.	1233;1233;1233;1233	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1233	ENSP00000328494:D1233V;ENSP00000353724:D1233V;ENSP00000433808:D1233V;ENSP00000411831:D1233V	ENSP00000328494:D1233V	D	-	2	0	KIF21B	199220715	1.000000	0.71417	0.215000	0.23724	0.449000	0.32228	7.369000	0.79578	2.114000	0.64651	0.459000	0.35465	GAT		0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332	
KLRC1	3821	broad.mit.edu;hgsc.bcm.edu	37	12	10599220	10599220	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr12:10599220A>C	ENST00000359151.3	-	7	813	c.632T>G	c.(631-633)cTa>cGa	p.L211R	KLRC1_ENST00000347831.5_Missense_Mutation_p.L193R|KLRC1_ENST00000408006.3_Missense_Mutation_p.L193R|KLRC1_ENST00000544822.1_Missense_Mutation_p.L211R|KLRC1_ENST00000536188.1_Missense_Mutation_p.L211R	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	211	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L211R(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ATTTACTTGTAGCACTGCACA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											183.0	175.0	178.0					12																	10599220		2203	4298	6501	SO:0001583	missense	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.632T>G	12.37:g.10599220A>C	ENSP00000352064:p.Leu211Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000359151.3	37	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.740913	0.30865	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	2.13	2.13	0.27403	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.286130	0.18938	N	0.127032	T	0.36220	0.0959	M	0.87269	2.87	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.05007	-1.0912	10	0.87932	D	0	.	6.2779	0.20991	1.0:0.0:0.0:0.0	.	193;211	P26715-2;P26715	.;NKG2A_HUMAN	R	211;211;193;193;211	ENSP00000441432:L211R;ENSP00000352064:L211R;ENSP00000385304:L193R;ENSP00000256965:L193R;ENSP00000438038:L211R	ENSP00000256965:L193R	L	-	2	0	KLRC1	10490487	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.052000	0.14163	1.241000	0.43820	0.333000	0.21579	CTA		0.348	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1		NM_002259	
LIFR	3977	broad.mit.edu;hgsc.bcm.edu	37	5	38484964	38484964	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr5:38484964C>A	ENST00000263409.4	-	18	2666	c.2504G>T	c.(2503-2505)gGa>gTa	p.G835V	LIFR_ENST00000453190.2_Missense_Mutation_p.G835V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	835					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.G835V(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AATAATTAATCCCACAGCTGA	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	2	Substitution - Missense(2)	kidney(2)											67.0	64.0	65.0					5																	38484964		2203	4300	6503	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2504G>T	5.37:g.38484964C>A	ENSP00000263409:p.Gly835Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642188	0.67244	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.59083	0.29;0.29	5.67	4.8	0.61643	.	0.333028	0.35320	N	0.003293	T	0.74966	0.3786	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73316	-0.4021	10	0.17832	T	0.49	-19.5102	16.8818	0.86065	0.0:0.872:0.128:0.0	.	835	P42702	LIFR_HUMAN	V	835	ENSP00000263409:G835V;ENSP00000398368:G835V	ENSP00000263409:G835V	G	-	2	0	LIFR	38520721	0.986000	0.35501	0.909000	0.35828	0.940000	0.58332	2.774000	0.47694	1.383000	0.46405	0.563000	0.77884	GGA		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1		NM_002310	
MALAT1	378938	broad.mit.edu;hgsc.bcm.edu	37	11	65266030	65266030	+	lincRNA	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr11:65266030C>G	ENST00000534336.1	+	0	798				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CGCAGGACTGCAAGCAGTTGG	0.517																																																	0													42.0	43.0	43.0					11																	65266030		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266030C>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000534336.1	37																																																																																					0.517	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1		NR_002819	
MAP3K7	6885	broad.mit.edu;hgsc.bcm.edu	37	6	91228282	91228282	+	Splice_Site	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr6:91228282C>A	ENST00000369329.3	-	16	1686		c.e16-1		MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369320.1_Splice_Site|MAP3K7_ENST00000479630.1_Splice_Site|MAP3K7_ENST00000369332.3_Splice_Site	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.?(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTGCTAGAGGCTGAAAATAAT	0.328																																																	2	Unknown(2)	kidney(2)											57.0	54.0	55.0					6																	91228282		2203	4299	6502	SO:0001630	splice_region_variant	6885			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1525-1G>T	6.37:g.91228282C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Splice_Site	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780900	0.90282	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP3K7	91285003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.740000	0.93945	0.563000	0.77884	.		0.328	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1		NM_145331	Intron
MBD4	8930	hgsc.bcm.edu	37	3	129152947	129152950	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	TTCT	TTCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:129152947_129152950delTTCT	ENST00000249910.1	-	4	1406_1409	c.1231_1234delAGAA	c.(1231-1236)agaaggfs	p.RR411fs	MBD4_ENST00000503197.1_Frame_Shift_Del_p.RR411fs|MBD4_ENST00000429544.2_Frame_Shift_Del_p.RR405fs|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000507208.1_Frame_Shift_Del_p.RR411fs|MBD4_ENST00000393278.2_Frame_Shift_Del_p.RR93fs	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	411					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTGTTTTCCTTCTTTCTATCTGT	0.348								Base excision repair (BER), DNA glycosylases																																									0																																										SO:0001589	frameshift_variant	8930			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1231_1234delAGAA	3.37:g.129152951_129152954delTTCT	ENSP00000249910:p.Arg411fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000249910.1	37	CCDS3058.1																																																																																				0.348	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1		NM_003925	
MMEL1	79258	broad.mit.edu;hgsc.bcm.edu	37	1	2530196	2530196	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:2530196G>C	ENST00000378412.3	-	12	1236	c.1075C>G	c.(1075-1077)Cta>Gta	p.L359V	MMEL1_ENST00000288709.6_Missense_Mutation_p.L350V|MMEL1_ENST00000502556.1_Missense_Mutation_p.L202V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	359						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L350I(1)|p.L350V(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACAGAGGATAGCACAGTTTGT	0.483																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											121.0	112.0	115.0					1																	2530196		2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1075C>G	1.37:g.2530196G>C	ENSP00000367668:p.Leu359Val	Somatic		WXS	Illumina HiSeq	Phase_I	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439443	0.43326	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.75477	-0.94;-0.94;-0.94	4.82	2.7	0.31948	Peptidase M13 (1);	0.118844	0.52532	D	0.000067	T	0.73218	0.3559	L	0.58583	1.82	0.43080	D	0.994737	P	0.41159	0.74	P	0.48738	0.588	T	0.72603	-0.4243	10	0.62326	D	0.03	-15.5577	5.6068	0.17385	0.1067:0.0:0.5325:0.3608	.	359	Q495T6	MMEL1_HUMAN	V	202;350;359;202	ENSP00000288709:L350V;ENSP00000367668:L359V;ENSP00000422492:L202V	ENSP00000288709:L350V	L	-	1	2	MMEL1	2520056	1.000000	0.71417	0.987000	0.45799	0.486000	0.33341	3.247000	0.51422	0.999000	0.39023	0.561000	0.74099	CTA		0.483	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2		NM_033467	
NICN1	84276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49466658	49466658	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:49466658C>T	ENST00000273598.3	-	1	101	c.15G>A	c.(13-15)ttG>ttA	p.L5L	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Silent_p.L5L	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	5						microtubule (GO:0005874)|nucleus (GO:0005634)		p.L5L(1)		kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGGCACCAAAACGCGGG	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	28.0	29.0					3																	49466658		2201	4294	6495	SO:0001819	synonymous_variant	84276			AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.15G>A	3.37:g.49466658C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IZQ2	Silent	SNP	ENST00000273598.3	37	CCDS2798.1																																																																																				0.652	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3		NM_032316	
OPTC	26254	broad.mit.edu;hgsc.bcm.edu	37	1	203465362	203465362	+	Missense_Mutation	SNP	G	G	A	rs140125203	byFrequency	TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:203465362G>A	ENST00000367222.2	+	2	345	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	77					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.E77K(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAACTCCCCGAGGTGAGGGA	0.562																																																	1	Substitution - Missense(1)	kidney(1)						G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73.0	65.0	67.0		229	0.7	0.4	1	dbSNP_134	67	0,8600		0,0,4300	no	missense	OPTC	NM_014359.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	77/333	203465362	1,13005	2203	4300	6503	SO:0001583	missense	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.229G>A	1.37:g.203465362G>A	ENSP00000356191:p.Glu77Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	G	0.376	-0.931549	0.02359	2.27E-4	0.0	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.51071	0.72;0.72	3.9	0.683	0.17998	.	0.623886	0.14314	N	0.327461	T	0.27832	0.0685	L	0.33293	1	0.26274	N	0.978387	B	0.15473	0.013	B	0.10450	0.005	T	0.15752	-1.0426	10	0.15499	T	0.54	-9.6218	2.9253	0.05783	0.337:0.2632:0.3997:0.0	.	77	Q9UBM4	OPT_HUMAN	K	77	ENSP00000356191:E77K;ENSP00000399491:E77K	ENSP00000356191:E77K	E	+	1	0	OPTC	201731985	0.061000	0.20836	0.403000	0.26384	0.274000	0.26718	0.179000	0.16840	0.326000	0.23384	0.563000	0.77884	GAG		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1		NM_014359	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52598242	52598242	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:52598242A>C	ENST00000296302.7	-	23	3700	c.3699T>G	c.(3697-3699)tgT>tgG	p.C1233W	PBRM1_ENST00000394830.3_Missense_Mutation_p.C1208W|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.C1208W|PBRM1_ENST00000409114.3_Missense_Mutation_p.C1248W|PBRM1_ENST00000409057.1_Missense_Mutation_p.C1233W|PBRM1_ENST00000409767.1_Missense_Mutation_p.C1248W|PBRM1_ENST00000356770.4_Missense_Mutation_p.C1201W|PBRM1_ENST00000337303.4_Missense_Mutation_p.C1233W			Q86U86	PB1_HUMAN	polybromo 1	1233	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.C1233W(2)|p.C1201W(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAACACAGCACACTTTCCTG	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											63.0	63.0	63.0					3																	52598242		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3699T>G	3.37:g.52598242A>C	ENSP00000296302:p.Cys1233Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	18.26	3.583711	0.65992	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.53	3.18	0.36537	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.994;0.998;0.995;0.999;1.0;0.998;0.997	D	0.95107	0.8235	10	0.87932	D	0	-10.469	9.4812	0.38902	0.8574:0.0:0.1426:0.0	.	1208;1208;1233;1248;1248;1233;1201;1233	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	W	1201;1208;1233;1233;1233;1208;1248;1248;1232	ENSP00000349213:C1201W;ENSP00000378307:C1208W;ENSP00000296302:C1233W;ENSP00000338302:C1233W;ENSP00000386593:C1233W;ENSP00000386529:C1208W;ENSP00000386643:C1248W;ENSP00000386601:C1248W;ENSP00000387775:C1232W	ENSP00000296302:C1233W	C	-	3	2	PBRM1	52573282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.512000	0.53407	0.930000	0.37217	0.533000	0.62120	TGT		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE4B	5142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	66798124	66798124	+	Intron	SNP	G	G	A	rs200202611		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:66798124G>A	ENST00000329654.4	+	8	821				PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371045.5_Missense_Mutation_p.G18S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.G18S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CGGTGGTAGCGGTGACTCTGC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		18901	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											91.0	92.0	92.0					1																	66798124		2203	4300	6503	SO:0001627	intron_variant	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.635-67G>A	1.37:g.66798124G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	CCDS632.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.698	0.129817	0.08981	.	.	ENSG00000184588	ENST00000371045	T	0.63096	-0.02	4.94	0.766	0.18476	.	.	.	.	.	T	0.15478	0.0373	N	0.14661	0.345	0.40136	D	0.976775	B	0.02656	0.0	B	0.01281	0.0	T	0.16012	-1.0417	9	0.08381	T	0.77	.	5.0262	0.14385	0.3476:0.1574:0.495:0.0	.	60	Q13945	.	S	18	ENSP00000360084:G18S	ENSP00000360084:G18S	G	+	1	0	PDE4B	66570712	0.001000	0.12720	0.517000	0.27799	0.844000	0.47949	-0.032000	0.12266	0.059000	0.16252	0.561000	0.74099	GGT		0.517	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3		NM_002600	
PGLYRP2	114770	broad.mit.edu;hgsc.bcm.edu	37	19	15587107	15587107	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr19:15587107A>T	ENST00000340880.4	-	2	854	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.L125Q	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	125					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.L125Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCCCCGCCAGCAGAGGCTC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											105.0	89.0	95.0					19																	15587107		2203	4300	6503	SO:0001583	missense	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.374T>A	19.37:g.15587107A>T	ENSP00000345968:p.Leu125Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630645	0.67015	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.42;2.34	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000025	T	0.43787	0.1263	M	0.83012	2.62	0.37261	D	0.906991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.55945	-0.8060	10	0.87932	D	0	-13.472	11.4109	0.49925	1.0:0.0:0.0:0.0	.	125;125	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Q	125	ENSP00000345968:L125Q;ENSP00000292609:L125Q	ENSP00000292609:L125Q	L	-	2	0	PGLYRP2	15448107	0.865000	0.29922	0.807000	0.32361	0.490000	0.33462	7.008000	0.76341	1.967000	0.57214	0.460000	0.39030	CTG		0.612	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1		NM_052890	
PLEKHA2	59339	hgsc.bcm.edu	37	8	38827186	38827186	+	Splice_Site	DEL	C	C	-	rs398007544|rs5891050		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:38827186delC	ENST00000420274.1	+	12	1397	c.1163delC	c.(1162-1164)gcc>gc	p.A388fs	PLEKHA2_ENST00000521746.1_Intron|PLEKHA2_ENST00000388745.4_3'UTR|CTD-2544N14.3_ENST00000520863.1_RNA	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	388					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)			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)			GAGGGCAGCGCCTCCTGGGGT	0.607													C|CC|C|insertion	5008	1.0	1.0	1.0	5008	,	,		13967	1.0		1.0	False		,,,				2504	1.0																0										3621,1		1810,1,0	1.0	1.0	1.0			-8.5	0.0	8	dbSNP_126	12	7844,0		3922,0,0	no	frameshift	PLEKHA2	NM_021623.1		5732,1,0	A1A1,A1R,RR		0.0,0.0276,0.0087			38827186	11465,1	472	1163	1635	SO:0001630	splice_region_variant	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		ENST00000420274.1:c.1164+1C>-	8.37:g.38827186delC		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000420274.1	37																																																																																					0.607	PLEKHA2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021623	Frame_Shift_Del
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214170133	214170133	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr1:214170133G>A	ENST00000366958.4	+	2	863	c.255G>A	c.(253-255)atG>atA	p.M85I	PROX1_ENST00000261454.4_Missense_Mutation_p.M85I|PROX1_ENST00000498508.2_Missense_Mutation_p.M85I|PROX1_ENST00000435016.1_Missense_Mutation_p.M85I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	85					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.M85I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ATGCCATGATGCCTTTTCCAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											89.0	86.0	87.0					1																	214170133		2203	4300	6503	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.255G>A	1.37:g.214170133G>A	ENSP00000355925:p.Met85Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634282	0.67130	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	L	0.51422	1.61	0.80722	D	1	D	0.54964	0.969	D	0.70227	0.968	T	0.09818	-1.0657	10	0.62326	D	0.03	-4.9313	20.3626	0.98863	0.0:0.0:1.0:0.0	.	85	Q92786	PROX1_HUMAN	I	85	ENSP00000419517:M85I;ENSP00000420283:M85I;ENSP00000355925:M85I;ENSP00000400694:M85I;ENSP00000261454:M85I	ENSP00000261454:M85I	M	+	3	0	PROX1	212236756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.146000	0.71777	2.885000	0.99019	0.655000	0.94253	ATG		0.473	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		NM_002763	
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121653811	121653811	+	Missense_Mutation	SNP	G	G	A	rs200249121		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:121653811G>A	ENST00000393386.2	+	12	5122	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1571					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1571N(1)|p.A1571T(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTCAGTTTTGCAGACACTAA	0.448																																																	2	Substitution - Missense(2)	kidney(2)											140.0	140.0	140.0					7																	121653811		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4711G>A	7.37:g.121653811G>A	ENSP00000377047:p.Ala1571Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541967	0.45280	.	.	ENSG00000106278	ENST00000393386	T	0.44083	0.93	5.75	4.87	0.63330	.	0.180007	0.39210	N	0.001432	T	0.23133	0.0559	N	0.08118	0	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.05616	-1.0874	10	0.39692	T	0.17	.	9.8464	0.41030	0.0:0.6619:0.269:0.0691	.	1571	P23471	PTPRZ_HUMAN	T	1571	ENSP00000377047:A1571T	ENSP00000377047:A1571T	A	+	1	0	PTPRZ1	121441047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.617000	0.36943	1.580000	0.49851	-0.139000	0.14373	GCA		0.448	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
PXDNL	137902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52359592	52359592	+	Silent	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:52359592C>A	ENST00000356297.4	-	12	1597	c.1497G>T	c.(1495-1497)gtG>gtT	p.V499V	PXDNL_ENST00000543296.1_Silent_p.V499V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	499	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V499V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTGCACAGACACCTTTTTCA	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											167.0	165.0	166.0					8																	52359592		2017	4175	6192	SO:0001819	synonymous_variant	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1497G>T	8.37:g.52359592C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																				0.453	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651	
RNF43	54894	hgsc.bcm.edu	37	17	56435751	56435752	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:56435751_56435752insG	ENST00000584437.1	-	8	3340_3341	c.1385_1386insC	c.(1384-1386)ccafs	p.P462fs	RNF43_ENST00000577716.1_Frame_Shift_Ins_p.P462fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.P335fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.P421fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.P421fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.P462fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.P335fs|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	462	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTCACTGGCTGGCCCATCTGC	0.614																																																	0																																										SO:0001589	frameshift_variant	54894				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1386dupC	17.37:g.56435753_56435753dupG	ENSP00000463069:p.Pro462fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	CCDS11607.1																																																																																				0.614	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1		NM_017763	
RPS21	6227	hgsc.bcm.edu	37	20	60962917	60962918	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr20:60962917_60962918insG	ENST00000343986.4	+	4	172_173	c.133_134insG	c.(133-135)aggfs	p.R45fs	RPS21_ENST00000450116.2_Frame_Shift_Ins_p.R45fs|RPS21_ENST00000492356.2_3'UTR|RPS21_ENST00000370562.1_3'UTR	NM_001024.3	NP_001015.1	P63220	RS21_HUMAN	ribosomal protein S21	45					cellular protein metabolic process (GO:0044267)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000461)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|structural constituent of ribosome (GO:0003735)			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTCACAGGCAGGTTTAATGGC	0.505																																																	0																																										SO:0001589	frameshift_variant	6227			L04483	CCDS13497.1	20q13.3	2011-04-05			ENSG00000171858	ENSG00000171858		"""S ribosomal proteins"""	10409	protein-coding gene	gene with protein product	"""8.2 kDa differentiation factor"""	180477				8332502, 9582194	Standard	NM_001024		Approved	S21	uc002ycr.3	P63220	OTTHUMG00000032915	ENST00000343986.4:c.135dupG	20.37:g.60962919_60962919dupG	ENSP00000345957:p.Arg45fs	Somatic		WXS	Illumina HiSeq	Phase_I	P35265	Frame_Shift_Ins	INS	ENST00000343986.4	37	CCDS13497.1																																																																																				0.505	RPS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080031.2		NM_001024	
SETMAR	6419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	4355062	4355062	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:4355062A>G	ENST00000358065.4	+	2	704	c.637A>G	c.(637-639)Act>Gct	p.T213A	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.T213A|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	213	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)	p.T200A(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TGTTGACCCTACTTATATAGG	0.368								Chromatin Structure																																									1	Substitution - Missense(1)	kidney(1)											90.0	92.0	91.0					3																	4355062		2203	4300	6503	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.637A>G	3.37:g.4355062A>G	ENSP00000373354:p.Thr213Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	A	2.999	-0.206391	0.06180	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	D;D	0.82081	-1.57;-1.57	5.17	-3.18	0.05186	SET domain (3);	.	.	.	.	T	0.69477	0.3115	L	0.41906	1.305	0.34268	D	0.68066	B;B	0.27117	0.168;0.006	B;B	0.30646	0.118;0.013	T	0.57751	-0.7757	9	0.28530	T	0.3	.	2.5344	0.04711	0.5745:0.1102:0.2088:0.1065	.	200;213	Q53H47;C9JHK2	SETMR_HUMAN;.	A	213	ENSP00000373354:T213A;ENSP00000403000:T213A	ENSP00000373354:T213A	T	+	1	0	SETMAR	4330062	0.081000	0.21417	0.088000	0.20740	0.008000	0.06430	1.710000	0.37920	-0.506000	0.06558	-0.323000	0.08544	ACT		0.368	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4		NM_006515	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu	37	3	47059132	47059132	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr3:47059132C>T	ENST00000409792.3	-	20	7571	c.7529G>A	c.(7528-7530)cGc>cAc	p.R2510H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2510	Interaction with POLR2A.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R2510H(1)|p.R2007H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGTACCTTGCGAGCCAGATG	0.453			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											125.0	102.0	110.0					3																	47059132		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7529G>A	3.37:g.47059132C>T	ENSP00000386759:p.Arg2510His	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	32	5.132835	0.94517	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	D	0.93076	-3.16	5.44	5.44	0.79542	SRI, Set2 Rpb1 interacting (1);	0.000000	0.56097	D	0.000037	D	0.95424	0.8514	M	0.64997	1.995	0.80722	D	1	P;P	0.52577	0.843;0.954	P;P	0.58130	0.452;0.833	D	0.95514	0.8588	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	2510;2510	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	2510	ENSP00000386759:R2510H	ENSP00000386759:R2510H	R	-	2	0	SETD2	47034136	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.390000	0.79816	2.837000	0.97791	0.655000	0.94253	CGC		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SPG11	80208	hgsc.bcm.edu	37	15	44858098	44858099	+	Frame_Shift_Ins	INS	-	-	G	rs373233936|rs377341108		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr15:44858098_44858099insG	ENST00000261866.7	-	38	6968_6969	c.6952_6953insC	c.(6952-6954)cgcfs	p.R2318fs	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Frame_Shift_Ins_p.R2205fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2318					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTTGTGGCGGCCCAAGTTG	0.525																																																	0									,	45,4219		0,45,2087					,	1.3	0.9			44	74,8180		0,74,4053	no	frameshift,frameshift	SPG11	NM_025137.3,NM_001160227.1	,	0,119,6140	A1A1,A1R,RR		0.8965,1.0553,0.9506	,	,		119,12399				SO:0001589	frameshift_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6953dupC	15.37:g.44858100_44858100dupG	ENSP00000261866:p.Arg2318fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Ins	INS	ENST00000261866.7	37	CCDS10112.1																																																																																				0.525	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			
SULF1	23213	hgsc.bcm.edu;ucsc.edu	37	8	70515859	70515861	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr8:70515859_70515861delAAT	ENST00000260128.4	+	12	1932_1934	c.1215_1217delAAT	c.(1213-1218)aaaatt>aat	p.405_406KI>N	SULF1_ENST00000402687.4_In_Frame_Del_p.405_406KI>N|SULF1_ENST00000458141.2_In_Frame_Del_p.405_406KI>N|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_In_Frame_Del_p.405_406KI>N	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	405					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGAAGGCCAAAATTTGGCGTGAT	0.409																																																	0																																										SO:0001651	inframe_deletion	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1215_1217delAAT	8.37:g.70515859_70515861delAAT	ENSP00000260128:p.Lys405_Ile406delinsAsn	Somatic		WXS	Illumina HiSeq	Phase_I	Q86YV8|Q8NCA2|Q9UPS5	In_Frame_Del	DEL	ENST00000260128.4	37	CCDS6204.1																																																																																				0.409	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170	
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83839153	83839153	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr4:83839153C>T	ENST00000302236.5	+	5	1839	c.1788C>T	c.(1786-1788)gtC>gtT	p.V596V	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	596					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.V596V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCCCAAAGGTCATGCCTTTTC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	38.0	38.0					4																	83839153		2203	4299	6502	SO:0001819	synonymous_variant	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1788C>T	4.37:g.83839153C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KRE2|Q59AC9	Silent	SNP	ENST00000302236.5	37	CCDS3598.1																																																																																				0.348	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1		NM_024672	
TLR7	51284	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12906241	12906241	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chrX:12906241C>T	ENST00000380659.3	+	3	2753	c.2614C>T	c.(2614-2616)Cat>Tat	p.H872Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	872					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.H872Y(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GTATATTTACCATTTCTGTAA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											200.0	180.0	187.0					X																	12906241		2203	4300	6503	SO:0001583	missense	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2614C>T	X.37:g.12906241C>T	ENSP00000370034:p.His872Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291255	0.23564	.	.	ENSG00000196664	ENST00000380659	T	0.33438	1.41	5.62	3.75	0.43078	.	0.117336	0.56097	N	0.000024	T	0.28764	0.0713	L	0.54323	1.7	0.45762	D	0.998659	B	0.14805	0.011	B	0.21151	0.033	T	0.04333	-1.0959	10	0.42905	T	0.14	.	9.7502	0.40470	0.0:0.8184:0.0:0.1816	.	872	Q9NYK1	TLR7_HUMAN	Y	872	ENSP00000370034:H872Y	ENSP00000370034:H872Y	H	+	1	0	TLR7	12816162	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.936000	0.63506	0.467000	0.27218	0.529000	0.55759	CAT		0.403	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562	
TPTE2	93492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	20039633	20039633	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr13:20039633C>G	ENST00000400230.2	-	8	628	c.584G>C	c.(583-585)aGa>aCa	p.R195T	TPTE2_ENST00000400103.2_Missense_Mutation_p.R84T|TPTE2_ENST00000382977.4_Missense_Mutation_p.R195T|TPTE2_ENST00000382978.1_Missense_Mutation_p.R155T|TPTE2_ENST00000457266.2_Missense_Mutation_p.R84T|TPTE2_ENST00000390680.2_Missense_Mutation_p.R118T|TPTE2_ENST00000382975.4_Missense_Mutation_p.R155T|TPTE2_ENST00000255310.6_Missense_Mutation_p.R118T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	195					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R118T(1)|p.R195T(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCAAGTTGTCTTTTTTGATG	0.328																																																	2	Substitution - Missense(2)	kidney(2)											48.0	46.0	47.0					13																	20039633		2202	4300	6502	SO:0001583	missense	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.584G>C	13.37:g.20039633C>G	ENSP00000383089:p.Arg195Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	9.434	1.086248	0.20390	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98602	-4.42;-3.58;-5.02;-4.42;-4.42;-5.02;-4.42;-3.58	2.79	0.919	0.19392	Ion transport (1);	0.166531	0.52532	U	0.000071	D	0.97595	0.9212	M	0.71581	2.175	0.37533	D	0.917991	P;D;P	0.55172	0.902;0.97;0.952	B;P;P	0.58454	0.4;0.839;0.83	D	0.95511	0.8586	9	.	.	.	-13.1627	4.0131	0.09631	0.0:0.6093:0.2457:0.1451	.	84;118;195	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	T	155;84;195;118;118;195;155;84;195;64	ENSP00000372438:R155T;ENSP00000382974:R84T;ENSP00000383089:R195T;ENSP00000255310:R118T;ENSP00000375098:R118T;ENSP00000372437:R195T;ENSP00000372435:R155T;ENSP00000442218:R84T	.	R	-	2	0	TPTE2	18937633	1.000000	0.71417	0.077000	0.20336	0.025000	0.11179	0.404000	0.20999	0.195000	0.20347	0.467000	0.42956	AGA		0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_199254	
TRPV5	56302	broad.mit.edu;hgsc.bcm.edu	37	7	142626641	142626641	+	Silent	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:142626641G>A	ENST00000265310.1	-	4	717	c.369C>T	c.(367-369)atC>atT	p.I123I	TRPV5_ENST00000442623.1_Silent_p.I123I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	123					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.I123I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCACAACAGCGATGTGCAGTG	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	83.0	88.0					7																	142626641		2203	4300	6503	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.369C>T	7.37:g.142626641G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																				0.622	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1		NM_019841	
TRAPPC12	51112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	3391616	3391616	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:3391616C>T	ENST00000324266.5	+	2	417	c.222C>T	c.(220-222)gaC>gaT	p.D74D	TRAPPC12_ENST00000382110.2_Silent_p.D74D	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	74					vesicle-mediated transport (GO:0016192)			p.D74D(1)									TCATCTCTGACTCCCCCAACA	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	40.0	42.0					2																	3391616		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.222C>T	2.37:g.3391616C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	CCDS1652.1																																																																																				0.662	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2		NM_016030	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179399168	179399168	+	Silent	SNP	C	C	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr2:179399168C>T	ENST00000591111.1	-	308	97475	c.97251G>A	c.(97249-97251)agG>agA	p.R32417R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.R31490R|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.R25185R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000460472.2_Silent_p.R24993R|TTN_ENST00000589042.1_Silent_p.R34058R|TTN_ENST00000359218.5_Silent_p.R25118R|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32417	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.R25118R(1)|p.R25185R(1)|p.R31490R(1)|p.R24993R(1)|p.R31488R(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)			TGCGAGATTTCCTCTCTTTCA	0.413																																																	5	Substitution - coding silent(5)	kidney(5)											133.0	134.0	134.0					2																	179399168		1942	4132	6074	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.97251G>A	2.37:g.179399168C>T		Somatic		WXS	Illumina HiSeq	Phase_I	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																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
WDR36	134430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	110428228	110428228	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr5:110428228A>T	ENST00000513710.2	+	1	246	c.242A>T	c.(241-243)aAc>aTc	p.N81I	WDR36_ENST00000506538.2_Missense_Mutation_p.N81I|WDR36_ENST00000505303.1_Missense_Mutation_p.N25I|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	81					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.N81I(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTTTCAGCAACGACATTCCA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											38.0	41.0	40.0					5																	110428228		2202	4300	6502	SO:0001583	missense	134430			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.242A>T	5.37:g.110428228A>T	ENSP00000424628:p.Asn81Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711359	0.68730	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.69175	-0.38;-0.38;0.13	5.98	-3.36	0.04913	WD40 repeat-like-containing domain (1);	0.388740	0.31897	N	0.006886	T	0.57975	0.2090	M	0.71871	2.18	0.47621	D	0.999473	P	0.35656	0.514	B	0.36335	0.222	T	0.54200	-0.8329	10	0.87932	D	0	-2.3335	7.1987	0.25868	0.4719:0.3214:0.2066:0.0	.	81	Q8NI36	WDR36_HUMAN	I	81;81;25	ENSP00000423067:N81I;ENSP00000424628:N81I;ENSP00000422158:N25I	ENSP00000422158:N25I	N	+	2	0	WDR36	110456127	0.465000	0.25815	0.172000	0.22920	0.998000	0.95712	-0.062000	0.11674	-0.329000	0.08527	0.528000	0.53228	AAC		0.602	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281	
WSCD1	23302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	6021491	6021491	+	Missense_Mutation	SNP	G	G	A	rs112285134		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr17:6021491G>A	ENST00000574946.1	+	8	1748	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H	WSCD1_ENST00000573634.1_Missense_Mutation_p.R337H|WSCD1_ENST00000317744.5_Missense_Mutation_p.R453H|WSCD1_ENST00000574232.1_Missense_Mutation_p.R453H|WSCD1_ENST00000539421.1_Missense_Mutation_p.R453H			Q658N2	WSCD1_HUMAN	WSC domain containing 1	453						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.R453H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCTGACCGCAACTGGAAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20077	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											36.0	37.0	37.0					17																	6021491		2203	4300	6503	SO:0001583	missense	23302				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1358G>A	17.37:g.6021491G>A	ENSP00000460825:p.Arg453His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	CCDS32538.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.54	1.969039	0.34754	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	D;D	0.82255	-1.59;-1.59	5.47	2.38	0.29361	Sulfotransferase domain (1);	0.428098	0.23874	N	0.043712	T	0.72326	0.3446	L	0.36672	1.1	0.35135	D	0.768348	B	0.17465	0.022	B	0.12837	0.008	T	0.69884	-0.5024	10	0.44086	T	0.13	-25.328	7.7078	0.28661	0.3349:0.0:0.6651:0.0	.	453	Q658N2	WSCD1_HUMAN	H	453	ENSP00000323087:R453H;ENSP00000446032:R453H	ENSP00000323087:R453H	R	+	2	0	WSCD1	5962215	0.166000	0.22962	0.999000	0.59377	0.788000	0.44548	1.490000	0.35573	0.693000	0.31634	0.655000	0.94253	CGC		0.517	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4		NM_015253	
XRCC6BP1	91419	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58340855	58340855	+	Missense_Mutation	SNP	C	C	A	rs201702418		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr12:58340855C>A	ENST00000300145.3	+	3	436	c.311C>A	c.(310-312)tCt>tAt	p.S104Y		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	104					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S104Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GCTTCAACATCTCAGGTAGGC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											196.0	182.0	187.0					12																	58340855		1877	4114	5991	SO:0001583	missense	91419			AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.311C>A	12.37:g.58340855C>A	ENSP00000300145:p.Ser104Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047894	0.75846	.	.	ENSG00000166896	ENST00000300145	T	0.47528	0.84	5.58	3.71	0.42584	Metallopeptidase, catalytic domain (1);	0.096756	0.85682	D	0.000000	T	0.63628	0.2527	M	0.78916	2.43	0.80722	D	1	D	0.53885	0.963	P	0.54629	0.757	T	0.70132	-0.4956	10	0.66056	D	0.02	-12.6712	16.1893	0.81975	0.0:0.7335:0.2664:0.0	.	104	Q9Y6H3	ATP23_HUMAN	Y	104	ENSP00000300145:S104Y	ENSP00000300145:S104Y	S	+	2	0	XRCC6BP1	56627122	1.000000	0.71417	0.971000	0.41717	0.974000	0.67602	4.759000	0.62227	0.794000	0.33899	0.655000	0.94253	TCT		0.388	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1		NM_033276	
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88938317	88938317	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:88938317G>A	ENST00000375963.3	-	13	2520	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.S72L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S783L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S660L|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	783					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S783L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGTGCTCTCTGACTCATTATT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											218.0	202.0	208.0					9																	88938317		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2348C>T	9.37:g.88938317G>A	ENSP00000365130:p.Ser783Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542992	0.45280	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.54866	0.55;0.97;0.97;0.97	4.71	2.75	0.32379	.	1.176620	0.06221	N	0.686772	T	0.36026	0.0952	N	0.08118	0	0.27749	N	0.944201	B;B	0.15930	0.015;0.008	B;B	0.13407	0.009;0.004	T	0.28776	-1.0033	10	0.48119	T	0.1	-29.2896	11.3915	0.49817	0.0:0.1361:0.7224:0.1415	.	660;783	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	L	72;660;783;783	ENSP00000277141:S72L;ENSP00000365127:S660L;ENSP00000365128:S783L;ENSP00000365130:S783L	ENSP00000277141:S72L	S	-	2	0	ZCCHC6	88128137	0.999000	0.42202	0.008000	0.14137	0.017000	0.09413	2.144000	0.42197	1.184000	0.42957	0.585000	0.79938	TCA		0.443	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617	
ZMIZ2	83637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	44805139	44805139	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:44805139C>A	ENST00000309315.4	+	16	2326	c.2203C>A	c.(2203-2205)Ccc>Acc	p.P735T	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P703T|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P709T|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P677T|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P735T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	735	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.P735T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCCTGCAGCCCCCCTCAGT	0.692																																					NSCLC(20;604 852 1948 16908 50522)												1	Substitution - Missense(1)	kidney(1)											9.0	10.0	10.0					7																	44805139		1835	4026	5861	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2203C>A	7.37:g.44805139C>A	ENSP00000311778:p.Pro735Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908146	0.33721	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.32515	1.46;1.46;1.46;1.45;1.47	5.14	1.16	0.20824	.	0.436137	0.21345	N	0.076080	T	0.26774	0.0655	M	0.75264	2.295	0.31381	N	0.679008	B;B;B	0.21520	0.057;0.005;0.057	B;B;B	0.21917	0.037;0.007;0.037	T	0.27872	-1.0061	10	0.15066	T	0.55	-3.647	5.1718	0.15114	0.0:0.4466:0.2639:0.2895	.	709;735;677	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	T	677;735;735;703;709;738	ENSP00000409648:P677T;ENSP00000311778:P735T;ENSP00000414723:P735T;ENSP00000396601:P703T;ENSP00000265346:P709T	ENSP00000265346:P709T	P	+	1	0	ZMIZ2	44771664	0.017000	0.18338	0.890000	0.34922	0.718000	0.41266	1.120000	0.31271	0.038000	0.15604	-0.258000	0.10820	CCC		0.692	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1		NM_031449	
ZNF493	284443	broad.mit.edu;hgsc.bcm.edu	37	19	21607620	21607620	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr19:21607620A>G	ENST00000355504.4	+	2	2041	c.1775A>G	c.(1774-1776)aAa>aGa	p.K592R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.K720R	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	592					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.K720R(1)|p.K592R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAATGTGGCAAAGCTTTTAAC	0.368																																																	2	Substitution - Missense(2)	kidney(2)											35.0	37.0	36.0					19																	21607620		2202	4299	6501	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1775A>G	19.37:g.21607620A>G	ENSP00000347691:p.Lys592Arg	Somatic		WXS	Illumina HiSeq	Phase_I	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	14.29	2.489892	0.44249	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.26223	1.75;1.75	1.02	-0.155	0.13395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17916	0.0430	N	0.20530	0.585	0.80722	D	1	P;P	0.42973	0.796;0.544	P;B	0.46479	0.518;0.066	T	0.10132	-1.0643	9	0.72032	D	0.01	.	5.1043	0.14775	0.7828:0.0:0.2172:0.0	.	592;720	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	R	720;592	ENSP00000376110:K720R;ENSP00000347691:K592R	ENSP00000347691:K592R	K	+	2	0	ZNF493	21399460	0.100000	0.21855	0.284000	0.24805	0.283000	0.27025	1.824000	0.39072	0.378000	0.24764	0.372000	0.22366	AAA		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910	
Unknown	0	broad.mit.edu	37	21	14439357	14439357	+	IGR	SNP	C	C	G	rs373841494		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr21:14439357C>G								RNU6-614P (19347 upstream) : AL050302.1 (302573 downstream)																							TGAATCAGCTCAATCAATCGC	0.279																																																	0																																										SO:0001628	intergenic_variant	0																															21.37:g.14439357C>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.279									
CERCAM	51148	broad.mit.edu	37	9	131196482	131196483	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:131196482_131196483GG>TT	ENST00000372838.4	+	10	1703_1704	c.1305_1306GG>TT	c.(1303-1308)gaGGca>gaTTca	p.435_436EA>DS	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.357_358EA>DS	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	435					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.E435_A436>DS(1)|p.E435D(1)|p.E357_A358>DS(1)|p.A436S(1)|p.A358S(1)|p.E357D(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AGGATGTGGAGGCAGAGAAACT	0.634																																																	6	Substitution - Missense(4)|Complex - compound substitution(2)	kidney(6)																																								SO:0001583	missense	51148			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	Exception_encountered	9.37:g.131196482_131196483delinsTT	ENSP00000361929:p.E435_A436delinsDS	Somatic		WXS	Illumina GAIIx	Phase_I	A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	CCDS6901.2																																																																																				0.634	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2		NM_016174	
DOPEY2	9980	broad.mit.edu	37	21	37653892	37653892	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr21:37653892A>C	ENST00000399151.3	+	32	6228	c.6143A>C	c.(6142-6144)tAc>tCc	p.Y2048S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2048					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.Y2048S(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TACCACCTTTACCTTCCACTG	0.378																																																	2	Substitution - Missense(2)	kidney(2)											74.0	73.0	73.0					21																	37653892		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6143A>C	21.37:g.37653892A>C	ENSP00000382104:p.Tyr2048Ser	Somatic		WXS	Illumina GAIIx	Phase_I	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313454	0.81358	.	.	ENSG00000142197	ENST00000399151	T	0.52057	0.68	5.42	5.42	0.78866	.	0.061947	0.64402	D	0.000003	T	0.70325	0.3211	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71368	-0.4614	10	0.33940	T	0.23	-10.9093	15.4962	0.75653	1.0:0.0:0.0:0.0	.	2041;2048	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	S	2048	ENSP00000382104:Y2048S	ENSP00000382104:Y2048S	Y	+	2	0	DOPEY2	36575762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.892000	0.75644	2.058000	0.61347	0.533000	0.62120	TAC		0.378	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128	
G6PD	2539	broad.mit.edu	37	X	153770607	153770607	+	Intron	SNP	G	G	T			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chrX:153770607G>T	ENST00000393564.2	-	2	233				IKBKG_ENST00000369609.5_Silent_p.G43G|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000497281.1_Intron|G6PD_ENST00000393562.2_Intron|G6PD_ENST00000369620.2_Intron	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase						carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.G43G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGGTGGGGAAAGATGCT	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	52.0	55.0					X																	153770607		1568	3582	5150	SO:0001627	intron_variant	8517			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.120+3643C>A	X.37:g.153770607G>T		Somatic		WXS	Illumina GAIIx	Phase_I	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	CCDS44023.1																																																																																				0.572	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3		NM_000402	
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	TCGCTGTCGCCA	TCGCTGTCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374																2	Deletion - In frame(2)	large_intestine(1)|breast(1)								958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del	Somatic		WXS	Illumina GAIIx	Phase_I	Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1		NM_198471	
Unknown	0	broad.mit.edu	37	7	39873259	39873259	+	IGR	SNP	C	C	A			TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr7:39873259C>A								LINC00265 (40568 upstream) : RN7SL496P (54712 downstream)																							ATTTACTGCACGTAAGAGTAC	0.507																																																	0																																										SO:0001628	intergenic_variant	0																															7.37:g.39873259C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.507									
MIR4477B	100616194	broad.mit.edu	37	9	68413567	68413567	+	RNA	DEL	G	G	-	rs371321076		TCGA-A3-3311-01A-01D-0966-08	TCGA-A3-3311-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c095b70-9a64-48b0-8a1c-45dd00a70019	9ac1d3b4-17a7-43dd-85fc-e52fb82fe7bf	g.chr9:68413567delG	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		CTCCCCCAGTGGCGCCGGATC	0.602																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413567delG		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000581659.1	37																																																																																					0.602	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
